P21359
PR
Gene name |
NF1 |
Protein name |
Neurofibromin |
Names |
Neurofibromatosis-related protein NF-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4763 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
26 structures for P21359
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1NF1 | X-ray | 250 A | A | 1198-1551 | PDB |
| 2D4Q | X-ray | 230 A | A/B | 1581-1837 | PDB |
| 2E2X | X-ray | 250 A | A/B | 1566-1837 | PDB |
| 3P7Z | X-ray | 265 A | A/B | 1566-1837 | PDB |
| 3PEG | X-ray | 252 A | A | 1566-1837 | PDB |
| 3PG7 | X-ray | 219 A | A/B | 1581-1837 | PDB |
| 6OB2 | X-ray | 285 A | B/D | 1209-1484 | PDB |
| 6OB3 | X-ray | 210 A | B/D | 1209-1484 | PDB |
| 6V65 | X-ray | 276 A | B | 1203-1551 | PDB |
| 6V6F | X-ray | 254 A | B | 1203-1551 | PDB |
| 7MOC | EM | 456 A | A/B | 2-2839 | PDB |
| 7MP5 | EM | 560 A | A/B | 2-2839 | PDB |
| 7MP6 | EM | 625 A | A/B | 2-2839 | PDB |
| 7PGP | EM | 310 A | F/N | 1-2839 | PDB |
| 7PGQ | EM | 350 A | F/N | 1-2839 | PDB |
| 7PGR | EM | 400 A | F/N | 1-2839 | PDB |
| 7PGS | EM | 340 A | F/N | 1-2839 | PDB |
| 7PGT | EM | 480 A | F/N | 1-2839 | PDB |
| 7PGU | EM | 330 A | F/N | 1-2839 | PDB |
| 7R03 | EM | 360 A | A/B | 1-2839 | PDB |
| 7R04 | EM | 370 A | A/B | 1-2839 | PDB |
| 8E20 | EM | 360 A | A/B | 1-2839 | PDB |
| 8EDL | EM | 370 A | A | 1-2839 | PDB |
| 8EDM | EM | 360 A | A/B | 1-2839 | PDB |
| 8EDN | EM | 380 A | A | 1-2839 | PDB |
| 8EDO | EM | 340 A | A/B | 1039-2302 | PDB |
4997 variants for P21359
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001172240 rs1060500252 |
1 | M>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555594471 RCV000632482 RCV002315794 CA658658569 |
2 | A>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398979169 rs1555594473 RCV000564452 |
2 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1911550821 RCV001340220 |
3 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1598173770 RCV002422823 CA398979175 RCV000815492 |
3 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375213 RCV001223014 rs1911550821 |
3 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1911551060 RCV001056212 |
4 | H>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000408872 rs1057516197 |
5 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002493226 RCV000701041 CA398979213 rs1567786804 |
5 | R>S | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398979203 RCV002319146 rs1598173775 |
5 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000206070 CA350124 RCV002317732 RCV002494520 rs864622210 |
6 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1911552278 RCV001051473 |
7 | V>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398979266 rs1567786829 RCV000687206 |
9 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001337307 rs1567786829 |
9 | W>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000222237 RCV001046361 CA10577556 RCV000216917 rs876658658 RCV001814121 |
11 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001203831 RCV002451424 rs1911554964 |
12 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1911556061 RCV002363551 RCV002298852 RCV001036626 |
13 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398979315 rs1060500261 RCV002319282 |
13 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060500261 CA16615401 RCV000461213 RCV002365591 |
13 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002319116 CA398979344 rs1598173852 RCV000815984 |
15 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632423 rs1057520334 RCV000435513 CA16607554 RCV002318978 |
16 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398979374 rs1555594493 RCV001212851 RCV002316643 |
16 | R>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1911557433 RCV001326500 |
17 | F>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398979393 rs1369290988 RCV000806661 |
17 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000166554 RCV001799629 rs786203307 RCV000554192 CA196174 |
19 | E>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001341497 rs1911558602 |
19 | E>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706302 CA398979412 RCV002343569 rs786203307 |
19 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1911558884 RCV001208430 |
20 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698970 RCV002352176 CA398979432 rs1567786905 |
20 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567786905 RCV002356968 RCV001227828 |
20 | Q>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240243 rs1911559787 RCV001559916 |
20 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1598173901 CA398979435 RCV000806247 |
20 | Q>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700381 COSM3983359 CA398988021 rs1567814403 RCV002485718 COSM3983360 |
21 | L>P | ovary Neurofibromatosis, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001306574 rs779453629 |
21 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597625794 RCV001038649 |
22 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230396 rs2065654347 |
22 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989777 rs1597625794 CA398988030 |
22 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000414793 rs1057518884 |
23 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555604870 CA398988068 RCV002316651 RCV002528015 |
23 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000460803 RCV001797086 rs542824372 RCV002318502 CA8485473 |
23 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA398988104 rs1555604874 RCV001067528 RCV000573262 |
25 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555604874 RCV001049539 |
25 | T>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778973022 RCV002315767 RCV001858128 CA8485475 |
26 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16615539 RCV000585221 rs1060500363 RCV000469252 RCV002418351 |
27 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398988142 RCV001385883 RCV000492657 rs771764281 |
28 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000782209 RCV001293593 RCV000203778 RCV000132116 CA169288 rs587782686 |
28 | Q>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA398988172 RCV000550449 rs1555604881 RCV001764536 RCV002314946 |
30 | T>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003128643 rs1567814432 RCV000690348 |
31 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046801 rs786202864 |
31 | H>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000059218 RCV001854237 RCV002313740 CA219643 VAR_032459 rs199474725 |
31 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA194500 RCV001060079 rs786202864 RCV002372049 RCV000165908 |
31 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1597625887 RCV002409341 |
32 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220165 rs2065655236 |
32 | T>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398988210 RCV000824622 rs1060500324 |
33 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16615540 rs1060500324 RCV000457940 |
33 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398988215 rs1555604887 RCV000540766 RCV002448636 |
33 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500320 RCV000464003 RCV002379413 |
34 | V>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1217358160 RCV001307515 |
34 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA193875 rs772995929 RCV000165635 RCV002478510 RCV000534740 |
34 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060500282 RCV000468077 CA16615406 |
35 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199966218 RCV001204266 CA398988272 RCV002316663 |
36 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000129384 RCV002415623 RCV000196537 rs199966218 CA164315 RCV000680810 |
36 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001290902 rs2065655815 |
38 | H>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704741 rs1567814494 CA398988337 |
39 | N>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002329342 RCV001350439 rs1567814494 |
39 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2065656004 RCV001214830 |
40 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203038 RCV000632311 CA195162 RCV000166171 |
41 | E>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786203038 RCV000766133 |
41 | E>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000583005 rs1555604897 |
43 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681046 rs1555604899 RCV000542948 RCV002316488 CA398988394 |
43 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001368174 RCV002318936 CA398988399 rs1597625982 |
44 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597625973 RCV000819188 |
44 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001538629 rs753189381 RCV001731530 CA8485481 RCV000217609 RCV000556849 |
45 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398988450 rs1555604902 RCV000632405 |
48 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213478 rs1597626026 |
49 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469078 rs764367878 RCV000681013 RCV002318995 CA8485483 |
49 | Y>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398988479 RCV001853786 RCV002315864 rs1555604907 |
50 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691109 RCV000492529 |
52 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290775 rs2065656979 |
54 | V>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM393296 RCV000469477 CA16615542 rs1060500330 COSM393297 |
54 | V>F | lung Neurofibromatosis, type 1 breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001238324 rs2065657050 |
55 | I>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751891720 RCV001061261 CA398988585 |
56 | S>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001043074 rs779727341 |
57 | G>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398988616 RCV000536722 rs1555604925 RCV002404384 |
57 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000996514 RCV002311333 rs779727341 COSM977392 RCV000564586 COSM977393 CA8485485 RCV000765342 RCV000234251 |
57 | G>S | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome endometrium Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2065657352 RCV001300948 |
58 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597626094 CA398988642 RCV000804180 |
58 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702444 CA398988650 RCV002256483 rs1567814586 |
59 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580184 rs876659891 RCV000213366 |
59 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs546729596 CA8485486 RCV002316491 RCV000526548 |
60 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002473065 RCV002317226 rs1007047958 CA289348700 RCV000632464 |
60 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555604935 RCV000632454 |
61 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000539139 CA289348701 RCV001562458 RCV002316492 rs754295034 |
61 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000659956 rs1555604939 |
63 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316662 rs1555604941 |
64 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000216551 RCV000659957 CA8485487 rs375038808 |
67 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001316518 RCV003166817 CA398988781 rs1441153485 |
68 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8485488 RCV002420364 RCV000535010 rs779063198 |
68 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002418972 RCV001324153 rs1216707810 |
69 | R>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167453 rs752396270 RCV000794104 RCV002498829 CA198351 |
71 | F>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA398989552 RCV000690250 rs1567816022 |
73 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315746 CA398989558 rs199474726 RCV001865723 |
74 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597629724 RCV000801778 |
75 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2065716538 RCV001205486 |
75 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799922 CA398989560 RCV002424844 rs1597629733 |
75 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA164511 RCV001808397 rs373563053 RCV000129481 RCV002453460 RCV000205241 RCV002478386 |
77 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001305439 rs2065716657 |
77 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555605367 RCV000527494 RCV002319023 |
78 | N>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1438566555 RCV000657240 RCV000820700 |
78 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219194 rs876658354 CA10580185 RCV000227890 RCV002494585 RCV001753656 |
78 | N>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000811523 COSM327915 CA398989597 rs1597629765 COSM327914 |
79 | L>* | Neurofibromatosis, type 1 skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA398989603 rs752208826 RCV000632487 RCV002319061 |
79 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001229448 rs764855221 |
79 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310138 rs2065717116 |
80 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA194515 rs4795581 RCV000165912 VAR_022254 RCV000465537 |
80 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP |
|
VAR_049135 RCV002314926 RCV000613716 RCV000553141 rs4795581 CA289350615 |
80 | Y>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP |
|
RCV000132301 RCV001568636 CA169597 RCV000198417 rs587782772 RCV001818332 RCV002444593 |
81 | L>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs771115661 RCV002317299 RCV000681036 RCV001223294 |
82 | S>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597629809 RCV000820780 |
82 | S>ERD | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199474729 RCV000659959 CA219465 RCV000059172 VAR_021730 |
82 | S>F | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 NF1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA398989636 RCV000807903 rs1597629813 |
82 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237741 rs199474729 |
82 | S>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632345 rs771115661 RCV002458005 |
83 | Q>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001572283 CA8485509 RCV000796434 rs746824139 |
83 | Q>* | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002469291 RCV002424817 RCV000795319 CA398989656 rs1060500360 |
83 | Q>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464951 CA16615140 rs1060500360 |
83 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597629835 RCV002319242 CA398989683 |
84 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2065717507 RCV001229777 |
85 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319093 CA8485510 RCV000702860 rs757057811 |
86 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001065320 rs876658691 |
87 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2065717750 RCV001348637 |
88 | D>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555605392 CA398989760 RCV002424562 RCV000659960 |
89 | T>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002429699 RCV001062713 rs1555605393 |
90 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989772 RCV000989778 rs1555605393 |
90 | L>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398989777 RCV002473098 RCV000659961 rs1555605393 |
90 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290875 rs2065717991 |
91 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704437 CA398989810 rs1555605396 RCV002317247 |
92 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503900 RCV000697292 CA398989824 |
92 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2065718099 RCV001044094 |
92 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989851 rs1597629882 RCV000810499 |
93 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000522641 rs1555605398 CA398989829 RCV002527575 RCV002438253 |
93 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_071668 rs1597629882 RCV001197025 |
93 | C>W | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000466535 RCV000059180 rs199474728 CA219494 VAR_017551 |
93 | C>Y | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1597629884 RCV000788939 CA398989867 RCV001869213 |
94 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597629895 RCV002319621 |
95 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000584701 rs1555605404 |
95 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567816119 CA398989880 RCV002319620 RCV001059584 |
95 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398989881 rs1567816119 RCV000689760 |
95 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319617 CA398989886 rs1597629902 |
96 | G>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597635615 CA398981623 RCV001009587 |
97 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002337069 rs780979519 CA398981632 |
98 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567817841 RCV000699268 |
100 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8485530 RCV002316498 rs756370324 RCV000532623 RCV000681271 |
102 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555606053 RCV000632392 |
103 | R>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057521097 RCV000424712 RCV001808810 CA16607194 |
104 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691116 RCV002311240 RCV001009328 |
107 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001245079 rs2065792343 |
107 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681050 RCV002325343 CA398981696 RCV001861886 rs1567817857 |
107 | T>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002409339 CA398981697 rs1567817857 |
107 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780233935 RCV000544444 RCV002420366 CA8485531 |
108 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000692777 rs1567817865 |
110 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597635722 RCV000989779 |
111 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497208 rs1135402787 |
111 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555606061 CA398981725 RCV000506647 RCV000814001 COSM79002 RCV002323871 |
112 | Q>* | ovary Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001008466 rs1597635745 RCV001389882 |
113 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793049 RCV001543529 rs1597635740 RCV002442618 RCV001002131 |
113 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2065792758 RCV001063310 |
113 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2065792798 RCV001290786 |
114 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070156 RCV002497212 RCV002317277 CA398981757 rs1231174547 RCV001069279 |
116 | E>D | Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2065792921 RCV001056262 |
117 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199474731 VAR_010989 CA219518 RCV000059186 |
117 | I>S | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA398981760 RCV000795498 rs1597635759 |
117 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398981772 rs1555606066 RCV000687764 |
119 | H>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA289324751 rs150080742 RCV002317317 RCV001858326 |
119 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs1555606066 RCV001061457 RCV000570245 CA398981774 |
119 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs138952888 RCV001056525 |
122 | H>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062580 rs587782107 CA166772 RCV000130623 |
122 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319273 rs1597635793 |
123 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632509 RCV003162578 rs587781757 CA165455 RCV002243793 RCV000129973 |
123 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10583461 RCV000231497 rs878853886 |
123 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000793464 RCV002352318 CA398981802 rs878853886 |
123 | T>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809662 rs1597635825 |
124 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398981804 RCV000539960 rs1555606074 |
124 | C>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215356 rs876659418 RCV000808155 CA10580188 |
125 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002316615 rs876659418 RCV001219117 CA398981813 |
125 | R>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000685560 RCV000573497 rs149003051 CA8485533 RCV000681097 |
125 | R>H | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP |
|
RCV001861003 RCV002319279 rs149003051 CA398981815 |
125 | R>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs876659418 RCV002319278 CA398981812 |
125 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001516761 CA190952 RCV000164441 RCV003162689 rs786201914 |
126 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001838013 RCV002319056 CA398981842 rs1390215440 RCV000632324 |
129 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001873344 CA398981841 rs1060500250 RCV002319288 |
129 | Q>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16615132 rs1060500250 RCV002318982 RCV000459426 |
129 | Q>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000802097 rs876660277 RCV000217661 CA10580189 RCV002500736 |
130 | H>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1597635884 CA398981850 RCV000799204 |
130 | H>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001255477 rs876660277 RCV002316503 RCV000525286 CA398981848 |
130 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567817930 RCV002369815 RCV000697276 CA398981856 RCV000681226 |
131 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2065794141 RCV001067915 |
132 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000234482 rs878853891 |
133 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235562 rs2065794225 |
133 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042987 rs2065794400 |
135 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069248 rs1060500244 |
135 | R>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615142 RCV000456876 RCV002318496 RCV000679388 rs1060500244 |
135 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1235321 CA349631 RCV002317737 RCV000205474 rs775191883 |
135 | R>W | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000807891 rs1597635919 |
135 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398981891 rs1597635932 RCV002319316 RCV001054187 |
137 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597635936 RCV001813803 CA398981894 RCV000806300 |
138 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597635936 RCV001053885 |
138 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319321 CA398981898 rs1597635942 |
138 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349333 rs1555606096 |
139 | S>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1194841 RCV001061093 COSM1194842 rs1262333812 CA398981904 |
139 | S>F | lung Neurofibromatosis, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1555606096 RCV002317255 CA398981900 |
139 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2065794781 RCV001226593 |
140 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311243 rs1131691119 |
141 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322879 rs2065794956 |
143 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049826 rs2065795028 |
144 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546140 RCV002319028 rs786203460 CA398981939 |
145 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398981940 RCV002315708 rs199474734 |
145 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_032460 RCV000059200 CA219570 rs199474734 RCV002514299 |
145 | L>P | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA196702 RCV000166775 rs786203460 RCV001037866 |
145 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597636022 CA398981955 RCV000856563 |
147 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002528014 CA398981951 RCV002316636 rs1555606104 |
147 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2065795260 RCV001070999 |
149 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750974024 CA8485537 RCV000690934 |
149 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000696241 rs1567817974 |
150 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs202142624 RCV001064096 |
150 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203127 rs769391944 |
151 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002318992 rs769391944 CA16615408 RCV000474298 |
151 | N>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398982084 RCV002319083 rs1567817981 RCV000691131 RCV002477556 |
151 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2065795669 RCV001290927 |
152 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001811636 rs2065795636 RCV001058604 |
152 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2065795756 RCV001202631 |
153 | V>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555606113 RCV002316603 CA398982148 RCV000692642 |
155 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001775847 RCV000559442 RCV002311846 rs755890242 CA8485541 |
156 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM977398 rs754096545 RCV002334068 COSM977397 RCV000632442 CA8485543 |
156 | R>H | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8485542 RCV000632459 RCV000681084 RCV000216562 rs754096545 |
156 | R>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA219591 RCV000059205 VAR_021731 rs199474744 RCV001360602 |
157 | I>N | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA398982168 RCV001066379 RCV002316649 rs1555606118 |
157 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002326846 RCV000681279 rs371192107 CA169283 RCV000206040 RCV000132115 |
159 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371192107 RCV001225003 RCV000165462 CA193461 |
159 | T>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199474752 RCV002315795 CA398982212 |
160 | R>K | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555607071 CA398984630 RCV002319373 RCV001350025 |
160 | R>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474752 RCV000059206 RCV000538243 RCV002336218 CA219595 VAR_065888 |
160 | R>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002316596 CA398984667 RCV001837995 rs1555607073 RCV000659962 |
162 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000553892 rs1555607073 RCV002316509 CA398984664 |
162 | Q>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000709411 CA398984662 rs1555607073 |
162 | Q>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2065903080 RCV001254800 RCV001380804 |
163 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203186 CA195740 RCV000166390 RCV000632282 |
165 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580192 RCV000222747 rs876660009 RCV001319484 |
165 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002311847 RCV000533990 CA398984775 rs876660009 |
165 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003159605 RCV002285342 rs1135402788 RCV002341170 RCV000497069 |
166 | V>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201874 RCV000164374 RCV000486687 RCV000461491 RCV002318954 RCV001009588 |
167 | C>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043524 rs2065903351 |
167 | C>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009566 RCV000493132 RCV000707168 rs1131691994 CA398984855 |
168 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398984936 rs1597643788 RCV002319403 |
170 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2065903486 RCV001302153 |
170 | D>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398984943 rs1597643796 RCV000799601 |
171 | N>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000234201 rs767500770 RCV000166685 RCV000681197 CA196478 |
171 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000792351 rs767500770 CA398984958 |
171 | N>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000632296 CA398984983 rs1555607083 RCV000679397 |
172 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319407 rs1597643815 |
173 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398985011 RCV000818178 rs1597643820 |
173 | D>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316620 RCV002483529 CA398985025 RCV000820168 rs1555607084 |
174 | V>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398985022 RCV000796405 rs1555607084 RCV002345756 RCV003222132 |
174 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs112306990 RCV000034585 COSM24498 RCV000129680 RCV000199175 VAR_017552 RCV000264802 CA161065 RCV000323382 RCV000268253 RCV000121638 |
176 | D>E | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis soft_tissue Neurofibromatosis, familial spinal found in mismatch repair deficient cancer cells; also found in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001366769 rs1567820732 CA398985083 RCV000680979 |
176 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555607093 RCV000632323 |
177 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218907 rs766213678 RCV000679399 CA8485552 RCV000550459 |
177 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1135402789 RCV000497153 |
180 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398985157 RCV002319631 rs1597643865 |
180 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214615 rs2065904037 |
181 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497228 rs1135402790 |
181 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398985168 rs753529924 RCV000583592 RCV001007972 RCV002350411 RCV002468589 |
181 | Q>* | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001824691 CA8485553 rs753529924 RCV000222911 |
181 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2065904138 RCV001342398 |
181 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319635 CA398985189 rs1597643876 |
182 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398985228 RCV000815361 rs1597643884 |
183 | I>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398985235 RCV000632312 rs1555607101 RCV002319544 |
184 | N>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003165573 rs876659849 RCV000213670 CA10580194 RCV001042725 |
184 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567820771 CA398985295 VAR_032461 RCV000706861 |
186 | D>V | Neurofibromatosis, type 1 NF1; reduced splicing enhancement [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000756436 RCV002507322 rs1567820765 CA398985291 RCV001214491 |
186 | D>Y | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000581233 rs1555607107 RCV000566676 |
187 | C>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778975931 RCV001301870 CA8485555 |
188 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000468877 CA16615136 rs1060500309 |
188 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000632318 rs1555607110 |
189 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000498082 CA398985389 rs1555607112 RCV000632370 |
190 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290791 rs2065904589 |
191 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398985415 RCV002528148 RCV002526881 rs1555607113 RCV000574648 |
191 | K>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA325787 COSM42794 RCV000442381 RCV002310996 RCV000033171 RCV001003806 rs397514641 RCV000626737 COSM1382024 |
192 | R>* | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome central_nervous_system Juvenile myelomonocytic leukemia soft_tissue Juvenile myelomonocytic leukemia (jmml) Cafe au lait spots, multiple [NCI-TCGA, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587781670 COSM3421390 RCV000765343 RCV000476088 RCV000129826 RCV002345443 COSM3421391 RCV001549489 CA165152 |
192 | R>Q | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199474753 CA398985474 COSM1382025 COSM75594 RCV000809471 |
194 | L>P | ovary Neurofibromatosis, type 1 large_intestine [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000059209 rs199474753 VAR_032462 CA219607 RCV001854236 |
194 | L>R | Neurofibromatosis, type 1 NFNS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000166667 rs587778552 RCV000691511 RCV001762266 CA161060 RCV000121637 |
195 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002354619 RCV000222660 rs876659079 CA10580195 RCV000468972 |
196 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694325 CA398989191 rs1171626658 RCV002352151 |
197 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398989196 rs1597658021 RCV000824992 |
197 | T>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567825858 RCV000691606 |
198 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000198111 CA337644 rs863224663 |
198 | A>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555608643 CA398989201 RCV002343219 RCV000632365 |
198 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398989209 RCV000819054 rs863224663 |
198 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632475 rs1555608647 |
199 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310139 rs2066130986 |
200 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819466 CA398989241 rs1597658055 |
200 | K>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402792 RCV000497229 |
201 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213797 rs2066131098 |
201 | F>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705600 rs1567825887 |
203 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs904361724 RCV002317223 CA289334456 RCV001206849 |
203 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs904361724 RCV001318296 |
203 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497078 rs1135402793 |
204 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002315796 CA398989320 RCV000692685 rs1555608659 |
205 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000626648 rs1555608663 |
206 | K>missing | Cafe au lait spots, multiple [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615413 rs1060500269 RCV000460273 |
206 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel RCV003165878 RCV000702199 CA398989342 rs1567825917 |
206 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
CA8485573 RCV000222794 RCV000525463 rs758624540 |
208 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555608666 RCV000632378 |
209 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204041 CA196655 rs786203448 RCV000166757 |
209 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10580196 RCV002518271 rs876658570 COSM1736126 RCV000217256 COSM54425 |
210 | L>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001203712 rs2066132105 |
211 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820381 RCV002311904 rs781519491 CA8485576 |
211 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000820933 rs1555608675 CA398989406 RCV002315859 |
211 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067982 rs2066132329 |
213 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597658192 RCV002363534 RCV001009567 |
215 | S>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM977400 RCV000059214 rs199474756 RCV002362697 RCV001814043 VAR_021732 CA219627 RCV000705441 COSM977399 |
216 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium NF1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000996515 CA398989487 RCV000803443 rs199474756 |
216 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583463 rs878853909 RCV000228869 |
217 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809400 rs1131691094 |
218 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492550 rs1131691094 RCV001865532 |
219 | A>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1160353919 CA398989616 RCV002316653 RCV000797621 |
219 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001217717 rs2066137928 |
219 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989622 rs1160353919 RCV002316612 RCV001858201 |
219 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001810977 rs1131691126 RCV002311251 CA398989666 |
221 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398989675 RCV002317236 rs1555608737 |
221 | W>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs587781709 CA165285 RCV000129883 RCV002512535 |
222 | N>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057517967 RCV000413819 RCV000704754 CA16043099 RCV000492355 |
223 | W>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702987 CA398989727 rs1567826110 |
223 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057517967 CA398989743 RCV000792331 |
223 | W>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398989723 RCV000659966 rs1555608740 RCV000680812 |
223 | W>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567826116 CA398989750 RCV000692021 |
224 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705989 CA8485604 RCV002360829 rs770339628 |
226 | N>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA398989860 CA398989869 rs745804540 RCV000703736 RCV002509552 RCV000813110 |
227 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000690852 RCV001775882 RCV002315805 CA398989855 rs1555608742 |
227 | Y>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8485605 RCV002365730 rs780682850 RCV001059628 |
227 | Y>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060500285 RCV001753862 CA16615154 RCV002318504 RCV000457709 |
229 | D>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001214947 rs2066138591 RCV002365965 |
229 | D>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066138676 RCV002508793 RCV001055990 |
230 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223792 rs2066138707 |
230 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660027 RCV001324114 RCV002366195 |
232 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769719064 RCV000632485 RCV002360522 CA8485607 RCV000681214 |
232 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000632286 RCV003162808 rs1555608748 CA658798746 |
232 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660027 RCV000221926 CA10580199 RCV001296039 |
232 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990006 rs922257267 RCV000551965 |
233 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002400192 rs1597658628 CA398990019 |
233 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA289334694 RCV000632294 rs922257267 |
233 | K>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066138986 RCV001339802 |
233 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066139158 RCV001224125 |
235 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA196302 rs769048538 RCV001229570 COSM3402724 RCV000166611 COSM3402723 RCV002516504 |
235 | Y>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinVar dbSNP ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA349262 RCV002478730 rs864622465 RCV000205078 RCV000221863 |
235 | Y>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002400195 rs1597658661 |
236 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398990072 RCV000822308 RCV002397725 rs1597658664 |
236 | Q>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1321998864 CA398990084 RCV000813796 |
236 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001063306 rs2066139444 |
237 | I>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615143 RCV000476499 rs1060500365 |
238 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002360707 RCV000679406 CA398990133 rs1567826152 |
238 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000814862 CA398990141 rs1597658676 |
239 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042616 rs2066139718 |
241 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555608763 RCV000806565 RCV000518858 |
242 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347020 rs1555608765 |
242 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555608765 RCV002316640 CA398990214 RCV001858203 |
242 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321178 RCV002317249 rs1555608762 CA398990206 |
242 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990463 rs1567826603 RCV002386275 RCV000706853 |
244 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567826188 RCV001091252 RCV000692867 CA398990254 |
244 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000681038 CA10580200 RCV000223331 rs587781869 |
245 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000130189 RCV001058836 rs587781869 CA165906 |
245 | C>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2066155612 RCV001290826 |
246 | A>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597659751 CA398990497 RCV000803181 |
246 | A>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622385 CA350333 RCV000206270 |
247 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658252 RCV000219377 CA10580201 |
248 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990566 RCV002422638 rs1567826623 RCV000757562 RCV000806391 |
249 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567826623 CA398990564 RCV000693333 RCV002388245 |
249 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687954 rs1567826633 |
250 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699338 CA398990627 rs1567826636 RCV002388298 |
251 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500323 RCV000469747 |
253 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044721 rs2066156105 |
253 | V>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203607 RCV002429474 CA16615564 CA197214 RCV000166994 RCV000474516 |
253 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203607 RCV001229138 |
253 | V>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066156209 RCV001290905 |
254 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395703 RCV001321105 rs773207833 CA8485638 |
255 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597659830 RCV002427467 RCV001030569 |
256 | F>missing | Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802206 CA398990725 rs1597659838 |
256 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066156448 RCV001303224 |
257 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212221 RCV002258159 rs2066156591 |
259 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706528 CA398990803 rs1466892954 |
260 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398990808 rs1567826665 RCV002406608 RCV000698503 |
260 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233466 rs2066156804 |
261 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066156804 RCV001202200 |
261 | K>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8485641 RCV000228995 COSM1710089 COSM1710090 RCV002281072 rs754343223 RCV002315682 |
262 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000632412 RCV002413805 CA398990832 rs1555608957 |
262 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009570 rs1597659879 |
263 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808117 rs1597659883 CA398990842 |
263 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000800736 rs1597659893 |
264 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497021 rs1135402795 |
264 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402796 RCV000497084 |
265 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066157267 RCV001037025 |
266 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567826683 RCV000779213 |
267 | W>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1580303 RCV000481303 RCV002446925 rs1064794273 COSM1580304 RCV000699692 COSM355085 CA16620355 COSM355084 RCV001000935 |
267 | W>* | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome central_nervous_system [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002411881 RCV001238864 rs1441060549 |
268 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045098 RCV002409409 rs1441060549 |
268 | P>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555608970 RCV002415938 CA398990931 RCV000822263 |
270 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555608970 RCV000573298 CA398990930 |
270 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990937 rs1597659939 RCV000816018 |
270 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597659948 RCV001202960 CA398990953 RCV002445185 |
271 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632376 CA398990963 rs1555608971 |
272 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000659968 rs1555608972 |
273 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066157974 RCV001290908 |
274 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066157933 RCV001219896 |
275 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002426948 rs786202464 RCV000200432 CA339306 |
275 | I>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001850314 rs786202464 CA192973 RCV000165285 |
275 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1406698961 RCV002406774 RCV000801196 CA398991003 |
275 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA398990999 rs786202464 RCV002445193 |
275 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001169879 rs2066158230 |
276 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066158274 RCV001225077 |
277 | C>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066158359 RCV001237806 |
279 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398991094 RCV000821408 rs753054046 RCV000788984 |
282 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8485644 rs753054046 RCV001049014 RCV002409423 |
282 | Q>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA289335196 rs779034900 RCV000765344 RCV002343217 RCV000632302 |
282 | Q>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2066158802 RCV001220195 |
283 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311337 CA10583464 rs878853921 RCV000231223 |
283 | D>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA398991109 RCV000797852 rs200572531 |
283 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398991115 rs878853921 RCV001222380 |
283 | D>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002444461 RCV002490460 rs200572531 RCV000130047 RCV000205213 RCV000034592 CA165606 RCV001027794 |
283 | D>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398991132 rs1567826762 RCV000702482 RCV002343544 |
284 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066158910 RCV001069754 |
284 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555608981 RCV002343221 CA398991136 RCV000632508 |
285 | S>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001246044 rs2066159067 |
285 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066158952 RCV001206125 |
286 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497173 rs1135402797 |
288 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223253 RCV000608961 RCV000234015 rs755670651 CA8485645 |
288 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749251299 CA8485646 RCV002442688 RCV000805116 |
289 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA398991203 rs1597660081 RCV002354922 |
290 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223188 RCV001535488 CA10580203 RCV000806878 RCV000479894 rs876660171 |
291 | E>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754915138 CA8485647 RCV002316526 RCV000528084 |
291 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002354924 rs1597660090 |
292 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214817 rs2066159719 |
293 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704809 rs1567826819 |
294 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860906 rs1597660112 RCV002363536 CA398991269 |
294 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002503804 RCV000204948 CA349137 rs864622300 RCV002317734 |
295 | N>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000632514 rs1555608994 RCV002317245 CA398991296 |
295 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402798 RCV000497026 CA398991305 |
296 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA192655 rs786202384 RCV000165165 RCV002515150 |
297 | K>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1219929525 RCV002483530 RCV002316652 CA398995487 |
297 | K>R | Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001290814 rs2066505649 |
300 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065427 rs2066505751 |
301 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001759812 RCV001058532 rs2066505718 RCV002374940 |
301 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000476472 CA194056 RCV000165716 rs786202746 |
302 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000539183 rs1555610848 |
303 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398995563 rs1555610847 RCV001060289 RCV002316625 |
303 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA198406 RCV001294062 RCV000508304 RCV000468520 RCV000167474 COSM1666613 RCV000579282 COSM24486 RCV002498830 rs786203950 |
304 | R>* | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 adrenal_gland Hereditary cancer-predisposing syndrome central_nervous_system Juvenile myelomonocytic leukemia soft_tissue Juvenile myelomonocytic leukemia (jmml) Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA658798749 rs1555610854 RCV000632510 |
304 | R>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222432 rs786203950 |
304 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs76015786 RCV001038337 |
304 | R>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002370156 RCV001574942 rs76015786 RCV000807822 CA289348600 |
304 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000808179 rs1567835041 CA398995577 RCV000712408 |
305 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002400182 CA398995600 rs1597680783 |
306 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002400188 RCV001860936 CA915949660 rs1597680797 |
308 | A>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660836 RCV000214706 RCV000681196 CA10580205 RCV000686132 |
308 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060500301 RCV000456984 |
309 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555610862 CA398995648 RCV000527376 |
309 | G>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315326 rs1555610865 |
310 | H>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002409337 CA398995656 RCV001041780 rs1597680837 |
310 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398995710 rs1555610868 RCV002316609 |
312 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398995714 rs1555610868 RCV002409338 |
312 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066506773 RCV001338730 |
313 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066506904 RCV001205403 |
315 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766011053 CA398995777 RCV000659970 RCV001584518 |
315 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267606609 RCV000000396 CA114197 |
316 | L>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070093 RCV002374994 rs2066507116 RCV002245852 |
318 | E>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000549119 rs1555610881 |
318 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219150 RCV002316648 RCV000810511 rs876660931 |
319 | S>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398995896 RCV000780544 rs1555610884 RCV000659971 |
320 | A>D | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001061326 rs2066507272 RCV001760025 |
320 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066507408 RCV001208522 |
321 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820795 rs1597680909 |
322 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690184 rs1417994243 RCV000561475 CA398995947 RCV000757558 |
322 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8485664 rs755007999 RCV002313156 RCV000462749 |
322 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001041575 rs2066507556 |
323 | A>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597680938 RCV000820261 CA398995993 RCV002286790 |
324 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474735 VAR_032463 RCV000059219 CA219647 RCV001060875 |
324 | C>R | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1422095982 RCV000816061 CA398996017 |
325 | V>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000795559 CA398996025 rs1597680956 RCV002386394 |
326 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066507912 RCV001241548 |
326 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066507983 RCV001290910 |
327 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984801 rs1597680978 |
327 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000530605 RCV001811033 RCV002377020 rs1555610893 |
327 | L>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201624827 RCV000659972 CA289348685 RCV002369783 RCV000757560 |
327 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001206956 rs201624827 |
327 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555610894 CA398996110 RCV002317235 |
329 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567835161 RCV000692308 |
330 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555610896 RCV000659973 |
330 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555610898 CA398996131 RCV000678463 |
330 | A>E | Cafe au lait spots, multiple [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474767 CA16615153 RCV000473350 RCV003151771 |
330 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555610898 RCV000659974 CA398996129 RCV002386131 RCV000680813 |
330 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002316618 rs1555610899 CA398996145 |
331 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035664 rs1567835183 RCV000694438 |
333 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000555781 rs1555610900 |
333 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066508538 RCV001054809 RCV002379561 |
333 | Y>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398996217 rs1466912192 RCV000802285 RCV001290914 COSM133078 |
333 | Y>* | Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinVar dbSNP ClinGen cosmic curated gnomAD |
|
RCV001203532 rs2066508508 |
333 | Y>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558546 RCV002316482 CA8485667 rs758212945 |
335 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2066508712 RCV001216084 |
336 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_032464 RCV000059148 CA219370 rs199474736 |
337 | E>V | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199474773 RCV000059149 RCV000817222 CA219374 VAR_010990 |
338 | D>G | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001775144 RCV000659975 rs1555610903 RCV000788498 RCV001009571 RCV002317911 |
340 | S>missing | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567835228 RCV001210370 |
340 | S>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000547070 RCV002358450 rs771089333 CA8485669 |
340 | S>C | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000809527 RCV000657241 RCV002507143 rs1555610905 |
341 | V>missing | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290778 RCV003148972 rs2066509100 |
341 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398996340 RCV000823991 rs1555610907 RCV000564194 |
341 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043066 rs2066509214 RCV002379509 |
342 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232117 rs2066509240 |
346 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066509487 RCV001222476 |
346 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319626 RCV001322145 CA398996427 rs1597681117 |
346 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402800 RCV000497032 |
347 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555610910 RCV001290923 COSM1479413 CA398996436 RCV000498599 RCV002395201 COSM1479414 |
347 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA398996440 RCV002318905 rs1597681131 |
347 | Q>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205395 rs864622064 CA349558 RCV002399758 |
348 | S>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8485673 RCV001009788 RCV002317380 rs776050648 RCV000632402 |
349 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1185636269 CA398996490 RCV000559602 RCV002319524 |
350 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001043716 RCV002402402 CA16620356 rs878853861 RCV000483644 |
351 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227273 rs878853861 CA10583466 |
351 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398996504 rs1597681173 RCV002319627 |
351 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210621 rs2066510063 |
353 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053543 rs2066510027 |
353 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224488 RCV000196611 |
354 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497123 RCV001837935 rs1135402801 CA398996566 |
354 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402801 RCV000797648 CA398996560 |
354 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000822264 rs1597681864 |
356 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398996697 rs1567835662 RCV001318408 RCV000681359 RCV002406525 |
357 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001345922 rs1567835662 |
357 | L>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854563 RCV000000399 RCV000000398 RCV002496218 VAR_021733 RCV002476903 CA212552 |
357 | L>P | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. Neurofibromatosis, familial spinal NF1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs137854563 RCV000808095 RCV000216480 RCV000487279 CA10580209 |
357 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686974 CA398996694 rs1567835662 |
357 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000659977 rs1555610971 |
358 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305599 rs2066518753 |
358 | F>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066518822 RCV001338421 |
359 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000659978 rs1555610972 |
360 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806132 RCV002422762 CA398996748 rs1597681902 |
360 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597681902 RCV001041930 |
360 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702812 rs876660103 RCV000436371 CA10580211 RCV000215346 |
361 | S>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2066519027 RCV001319539 |
362 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398996776 RCV002315784 RCV001755925 rs1555610976 |
362 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205613 CA349742 RCV000807218 rs864622107 RCV001546631 CA398996822 RCV000507359 |
365 | S>* | Variant assessed as Somatic; impact. Neurofibromatosis, type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000817520 rs1597681960 RCV002442739 |
367 | G>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227088 rs2066519416 |
367 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044119 rs2066519656 |
368 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002320220 rs1597681975 RCV001860861 CA398996862 |
368 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000659979 rs1555610984 |
369 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002450666 RCV000681022 rs878853862 RCV000233817 CA10583467 |
370 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002429970 RCV001228116 rs2066519817 |
371 | A>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800180 rs1597681991 CA398996916 |
371 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001240115 rs2066519935 |
372 | D>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818411 rs1597682016 CA398996956 |
373 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318907 rs1597682030 RCV001225438 |
374 | D>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824322 RCV000223198 rs876658666 CA10580212 |
374 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660856 CA10580213 RCV000221516 |
374 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066520145 RCV001290803 |
377 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000228845 CA10583468 RCV002321853 rs878853863 |
377 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699925 CA398997043 rs781367679 |
378 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000463618 rs1060500281 CA16615433 |
379 | C>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002314924 RCV000574491 RCV000526803 RCV002266983 rs1426127948 CA398997070 |
380 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001229137 rs1555611004 |
380 | L>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000534870 RCV002456060 CA398997077 rs1555611004 |
380 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001871672 RCV001812358 rs1555611004 |
380 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660276 RCV001295901 |
381 | V>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580214 rs876660276 RCV000220778 |
381 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1135402802 RCV000497211 |
382 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555611016 CA398997106 RCV000632356 |
382 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066520625 RCV001237431 |
382 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597682085 RCV000798230 CA398997119 |
383 | C>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497070 rs1135402803 |
385 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059282 rs2066520848 |
385 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398997152 rs1322986962 RCV000567658 RCV000813001 |
385 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA398997147 rs1322986962 RCV002318913 |
385 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002358451 CA398997154 RCV000547769 rs1350329837 |
385 | R>H | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs779930387 RCV003163502 CA8485690 RCV001199057 |
386 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002315732 RCV001858124 rs1555611025 CA398997187 |
387 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130738 CA167012 RCV000708723 RCV001121969 rs149739570 RCV001121971 RCV002326845 RCV000680982 RCV001121970 RCV000845190 RCV000765345 RCV000204985 |
389 | H>R | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Atypical coarctation of aorta Neurofibromatosis, familial spinal Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000793315 rs1597682137 RCV001811484 CA398997286 |
392 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315790 rs786202581 RCV002527996 CA398997349 |
394 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1597682159 RCV001290897 |
395 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597682159 RCV002068822 RCV002318916 RCV001223319 |
395 | K>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001323627 rs770767889 CA8485693 |
395 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001304252 rs770767889 |
395 | K>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989784 rs1597682729 |
396 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398997406 RCV000530886 RCV002316485 rs1413735911 |
396 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002318917 CA398997425 rs786201937 |
397 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA191072 RCV000164478 rs786201937 |
397 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001035999 rs2066527734 |
398 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009572 RCV002346210 CA398997447 COSM460383 rs1597682751 COSM460384 RCV001381232 RCV001593181 |
400 | Q>* | cervix Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2066527837 RCV002350508 RCV001294697 |
400 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238799 rs2066527867 |
403 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067475 rs2066527867 |
403 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398997519 RCV002318923 rs1597682758 |
404 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3362067 RCV001588986 CA167397 RCV000130930 RCV000632354 COSM3362068 rs587782233 |
405 | T>A | kidney Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398997546 rs1555611082 RCV000571484 RCV001858123 |
405 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691106 RCV000701483 RCV000492281 |
407 | H>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398997578 RCV000793098 rs1156614886 |
407 | H>Y | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1555611089 RCV002528994 RCV001047467 CA398997606 RCV002315865 |
408 | Y>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV003165574 CA10580216 RCV001070482 rs876660344 RCV000216611 |
408 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002366151 RCV001306555 rs2066528210 |
408 | Y>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515719 CA10580217 RCV000217347 rs876660378 |
409 | V>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1376759287 RCV000692721 CA398997634 |
410 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA289349513 rs199703072 RCV001219044 RCV002318928 |
411 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV002466637 rs1567836090 CA398997654 RCV001220956 |
412 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001788327 CA398997677 rs1241533665 RCV002317917 CA398997679 RCV000819802 RCV000691369 |
413 | S>* | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD NCI-TCGA |
|
CA398997666 RCV000659980 rs1555611093 |
413 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1334926587 RCV001290860 CA398997692 |
414 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000574709 rs1555611097 CA398997703 RCV000659981 |
415 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1128766 rs1415155749 COSM1128767 CA398997697 RCV000820084 RCV000708724 |
415 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1555611098 RCV000659982 |
416 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1217153 rs764079291 RCV000467266 RCV002393083 RCV000484297 CA8485718 RCV002502604 COSM27353 |
416 | R>* | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome skin soft_tissue Neurofibromatosis, familial spinal [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV002316486 rs1343309278 COSM1382036 RCV000543779 CA398997717 COSM1382035 |
416 | R>Q | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001860641 RCV002318930 rs1597682898 CA398997743 |
418 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290934 rs761430357 |
419 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002528013 rs1555611105 RCV000569028 |
419 | T>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320896 rs2066529281 |
420 | N>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316487 RCV000532243 rs1555611107 CA398997795 |
420 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066618784 RCV001239925 |
421 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853864 RCV000228032 RCV002317748 CA10583469 |
421 | S>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001325139 rs878853864 |
421 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681190 RCV000164813 rs786202145 RCV002505208 CA191826 RCV000706979 |
422 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2066619067 RCV001239353 |
424 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066619128 RCV001061335 |
425 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398999111 RCV000812451 RCV002370190 rs1597688734 |
425 | W>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM220117 RCV000492382 RCV002523990 CA398999137 rs1131691085 RCV001785636 |
426 | W>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1135402804 RCV000497156 |
427 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597688746 RCV000794169 CA398999150 |
427 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318934 rs1597688751 CA398999156 |
428 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323597 rs2066619337 RCV002384428 |
431 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066619428 RCV001215738 |
433 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615569 rs876660099 CA10580218 RCV000219851 RCV000461633 RCV000760822 |
433 | Y>* | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001246727 rs1772820423 |
434 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002315857 CA398999306 rs1555611570 |
434 | C>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398999317 RCV002384060 rs1555611571 RCV000560048 |
435 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318938 rs1597688786 |
436 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002318893 CA8485748 RCV000806540 rs755190083 |
436 | S>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16615157 RCV001775800 RCV000458889 RCV000570439 rs876658642 |
437 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000544035 RCV000218603 CA10580219 rs876658642 |
437 | V>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398999349 RCV002316489 RCV000535947 rs1555611574 |
437 | V>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213237 COSM133142 RCV000519956 COSM977403 RCV001814122 rs778405030 CA8485754 RCV000762984 RCV000225855 |
440 | R>* | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome skin central_nervous_system endometrium soft_tissue Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP |
|
COSM3421393 rs1466678870 COSM3421392 RCV000692563 CA398999421 |
440 | R>Q | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs2066620307 RCV001235125 |
441 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497218 rs1135402805 |
442 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398999461 RCV002315729 rs1555611580 |
442 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208899 rs2066620431 |
442 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555611581 RCV000659985 CA398999496 |
443 | F>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689684 rs1567838293 |
444 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681210 rs1555611582 RCV002385986 CA398999514 RCV000632326 |
444 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812785 RCV000566895 rs1162173842 CA398999508 |
444 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001225406 CA398999548 rs1389152072 RCV001776153 |
446 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM3738539 CA398999562 RCV000821261 rs1597688896 |
447 | L>P | Neurofibromatosis, type 1 adrenal_gland [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2066620866 RCV001296218 |
447 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000476377 rs1555611584 |
448 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398999572 RCV002314847 rs1131691257 RCV000494537 |
448 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567838311 RCV000691036 |
449 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206265 rs2066621144 |
450 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224853 rs2066621213 |
451 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061906 RCV000219244 CA10580220 rs747466938 |
451 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000792004 rs747466938 RCV002386375 CA8485755 RCV002508257 |
451 | V>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555611590 CA398999651 RCV000632336 |
452 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398999664 RCV001315661 RCV002315763 rs1324833228 |
452 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2066621372 RCV002379627 RCV001070745 |
452 | Q>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319055 rs1273060925 RCV000632314 CA398999678 |
453 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10580221 RCV000632390 RCV000222296 rs876660915 |
453 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243556 rs2066621671 |
454 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324786 rs1597688962 CA398999767 RCV002319141 |
456 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232404 RCV002378973 CA8485756 rs757560526 |
457 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567838357 RCV000690671 |
457 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000709412 CA194111 RCV002478511 rs786202763 RCV000165738 |
457 | H>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA398999791 RCV000565241 rs1318894606 RCV001301658 |
457 | H>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001290787 rs2066622088 |
458 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804852 rs1597688990 RCV002381766 CA398999796 |
458 | P>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8485757 RCV002550763 RCV002319142 rs781555047 |
458 | P>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1135402806 RCV000497074 |
459 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054075 rs1131691070 CA398999818 RCV000492466 |
459 | A>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060565 RCV002379580 rs1131691070 |
459 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA289352356 rs147417054 RCV000803750 RCV002319108 |
460 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV000255390 RCV000492771 rs878853865 RCV000229618 COSM24464 COSM977404 RCV003165598 CA10583470 |
461 | R>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system endometrium soft_tissue haematopoietic_and_lymphoid_tissue Gastric cancer [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA398999863 RCV002315843 rs1555611606 |
461 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555611606 RCV002319096 CA398999858 RCV000707265 COSM977406 COSM977405 |
461 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555611607 RCV001853727 RCV002317243 CA398999907 |
463 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319082 RCV000688496 rs1269425503 CA398999954 |
464 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001234570 rs2066785267 |
465 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000581163 rs1555612270 |
467 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778963145 RCV001381233 RCV001008105 |
467 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402808 RCV000497080 |
467 | T>N | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000632467 CA399001433 rs1555612271 |
469 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066785596 RCV001045744 |
469 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192726 RCV001054653 CA399001442 rs1597698330 RCV002319147 |
470 | E>* | Neurofibromatosis, type 1 RASopathy Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166241 rs786203090 CA195351 RCV000809613 |
470 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555612273 RCV000659987 |
471 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290839 rs2066785835 |
471 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253268 rs746149047 |
471 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597698326 RCV000819729 |
472 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215601 rs2066785879 |
474 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555612274 RCV000632369 |
475 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066785949 RCV001051977 |
476 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003160442 RCV001055250 rs1555612278 |
477 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303711 RCV000756431 RCV002317267 rs1555612276 CA399001490 |
477 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066786100 RCV001290926 RCV001664805 |
480 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781675 RCV000129835 CA165171 |
480 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399001525 RCV002316668 rs1355572914 |
481 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002311417 COSM705673 RCV000303184 COSM705674 RCV000357860 rs770201871 CA8485787 RCV000361439 RCV002509367 RCV000568934 RCV000266747 |
482 | T>A | lung Neurofibromatosis-Noonan syndrome Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1004943800 RCV002550770 RCV002319151 CA289356775 |
482 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000493049 rs1131691610 CA399001544 RCV001240173 |
485 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA289356782 rs1019393337 RCV000803652 |
486 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16615438 RCV000465380 rs1060500305 |
486 | T>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597698420 CA399001555 RCV002319153 |
487 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402809 CA399001557 RCV000497138 |
487 | R>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402810 RCV000497235 |
488 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315479 rs2066786622 |
488 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257527 rs137854557 RCV001009573 CA325499 COSM1290665 RCV000492667 COSM329089 RCV000757556 RCV000000382 RCV002504731 RCV001813925 VAR_032465 |
489 | Y>C | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 adrenal_gland Hereditary cancer-predisposing syndrome Rhabdomyosarcoma haematopoietic_and_lymphoid_tissue Neurofibromatosis, familial spinal NF1 [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002256653 RCV001044577 rs2066786672 RCV002393219 |
489 | Y>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402811 RCV000497174 |
490 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000476612 rs1060500307 |
490 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000474322 CA16615439 RCV003168734 rs1060500260 |
490 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199474757 RCV000703856 COSM3937316 CA219388 RCV002316211 VAR_021734 COSM3937315 RCV000059152 |
491 | Y>C | Neurofibromatosis, type 1 oesophagus Hereditary cancer-predisposing syndrome NF1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV001062865 rs2066787009 |
493 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497030 CA399001598 rs1135402812 |
493 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227789 CA10583472 rs878853867 |
494 | L>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555612286 RCV000659988 |
497 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM308523 RCV002319058 rs1555612288 CA399001640 RCV000632384 |
499 | L>P | upper_aerodigestive_tract Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002388166 RCV000659989 rs1555612288 CA399001641 |
499 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036201 rs2066787362 |
500 | I>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597698479 RCV002319156 CA399001652 |
501 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399001673 RCV002319106 RCV000798340 rs1597698495 |
504 | P>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548382 rs1555612289 |
505 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041596 rs2066787606 |
505 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1952238027 RCV001060965 |
508 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399001698 rs1597698512 RCV000794183 |
508 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000000383 rs137854558 VAR_010991 CA251467 |
508 | L>P | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000497090 RCV000703057 rs1135402813 |
509 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069104 RCV002319159 rs1597698521 CA399001706 |
509 | C>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213572 rs876660091 CA10580224 RCV001853606 |
510 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660091 RCV000706132 CA399001814 |
510 | N>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000219036 CA10580225 rs876659336 |
513 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000520958 RCV000659992 rs1555612815 |
514 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399001840 RCV001724121 RCV000659991 rs1316926587 RCV002397340 |
514 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002399792 rs775369084 RCV000233491 CA8485806 RCV000222304 RCV001555550 |
514 | Q>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000000374 RCV002288457 RCV000164295 RCV000414730 RCV001001001 rs267606600 |
514 | Q>R | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000492659 rs1131691068 |
517 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778548 COSM48885 CA399001856 RCV000632515 |
517 | E>* | lung Neurofibromatosis, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000132222 RCV000681180 RCV000121626 RCV000195429 rs587778548 CA161005 |
517 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000132136 RCV000693666 rs587782696 CA169328 RCV000681295 |
518 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2066874267 RCV001061848 |
519 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066874419 RCV001039275 |
519 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497035 rs1135402814 |
521 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064493 rs2066874810 |
522 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1085307461 RCV000489954 RCV002318594 |
524 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402815 COSM184166 RCV002319011 RCV000497127 CA399001902 |
524 | E>* | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2066875204 RCV001069189 RCV002402469 |
525 | L>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696834 CA399001926 rs1567843874 |
527 | T>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658693 RCV000215553 |
529 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497216 CA399001938 rs1135402816 |
529 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000489208 CA165238 RCV000205363 RCV000129860 rs145191978 RCV002399508 |
530 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16042974 rs1057518134 RCV001850989 RCV000413398 |
531 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583474 RCV000231005 rs773712266 |
531 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000168173 VAR_032466 RCV000059154 rs199474737 CA219397 |
532 | L>P | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199474737 RCV000227710 CA10583475 RCV002399810 |
532 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555612857 RCV000659993 CA399001961 |
533 | V>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399001965 RCV003159750 RCV000540676 rs1555612858 |
534 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009574 rs1567843917 COSM1579604 CA399001969 RCV002284427 COSM28017 RCV000693256 |
535 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001239689 rs2066876397 |
536 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000659995 RCV000659994 CA399001992 rs1555612859 CA399001994 |
536 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041143 rs1555612859 |
536 | S>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597703539 CA399002017 RCV002319167 |
537 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000706994 RCV000167353 rs786203860 CA198074 |
537 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497039 rs1135402817 |
538 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069042 rs2066876556 |
538 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615169 rs1060500366 RCV000463111 |
539 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687049 rs1567843934 |
540 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703087 CA399002055 rs1567843930 |
540 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000553024 RCV003162708 RCV000166167 CA195153 rs766748586 |
540 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10580229 rs876660632 RCV000221880 |
541 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399002086 rs1242297747 RCV001343552 |
542 | A>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000698954 rs894292181 RCV002315830 CA289359163 |
543 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000757568 CA399002141 RCV001855896 rs1567843945 |
545 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002400252 rs2066877456 RCV001759756 RCV001044247 |
546 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052222 rs2066877516 |
547 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293725 rs2066877587 RCV002402814 |
547 | E>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001585932 rs2066927450 RCV002400209 RCV001034792 |
548 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399002216 RCV000692742 rs1567844997 RCV002319084 |
548 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001227758 rs2066927581 |
549 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA219401 RCV000632472 RCV000059155 VAR_021735 rs199474758 |
549 | L>P | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000263054 RCV000277617 COSM1382052 rs886052798 COSM71824 CA10639323 RCV000318328 RCV000354441 |
550 | L>P | Neurofibromatosis-Noonan syndrome ovary Neurofibromatosis, type 1 large_intestine Variant assessed as Somatic; impact. Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001327286 CA289360585 rs113867817 RCV002317170 |
551 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001290869 rs1555613193 |
552 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399002234 rs1555613193 RCV000659998 |
552 | L>R | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000632424 RCV002402394 COSM1666605 COSM98377 CA16620358 rs1064794274 RCV000480683 |
553 | H>R | NS Neurofibromatosis, type 1 adrenal_gland autonomic_ganglia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA399002242 RCV000659999 rs953440640 RCV000756430 |
554 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000223315 rs147594815 CA8485823 RCV000681090 RCV000230263 |
554 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs863224656 CA338936 RCV000681098 RCV000221342 RCV000199877 COSM1382055 COSM1382056 |
554 | Q>R | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001241802 rs2066928095 |
555 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402819 RCV000497191 |
556 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066928367 RCV001231775 |
557 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399002265 rs1567845046 RCV000702479 RCV002319092 |
557 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001295455 rs1209447028 |
559 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567845069 RCV000706151 |
560 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399002298 rs1135402820 RCV000497046 |
561 | W>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA399002304 RCV002319172 rs1597706709 |
562 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001241083 rs2066928705 |
563 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066928784 RCV001223579 |
564 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597706718 RCV000809943 CA399002322 |
564 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402917 RCV001327052 rs2066928875 |
566 | P>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399002335 rs1555613200 RCV000543177 |
567 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597706730 RCV000800336 CA399002345 |
568 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549281 RCV003160167 RCV001008106 rs1597706737 |
571 | W>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA337698 rs863224489 RCV000198156 COSM436316 COSM436317 |
571 | W>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001044567 rs761199437 CA8485825 COSM436316 COSM436317 |
571 | W>* | Neurofibromatosis, type 1 breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs876660135 RCV000697442 RCV000221288 |
572 | E>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066929357 RCV001343933 |
572 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399002379 rs1597706766 RCV000800786 RCV001776014 |
573 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399002390 rs1555613206 RCV002527156 RCV000497781 |
574 | S>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497645 CA399002388 RCV000538065 RCV002404301 RCV000626735 RCV000574543 rs1555613206 |
574 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cafe au lait spots, multiple [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_032467 | 574 | S>R | NF1 [UniProt] | Yes | UniProt |
|
RCV002397385 CA399003958 rs915463951 RCV000689166 |
575 | S>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2066961890 RCV001241676 |
576 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500278 RCV000478871 CA16615167 RCV000459704 |
576 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474774 RCV002315842 RCV001064262 CA399004013 |
578 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474774 CA219405 VAR_021736 RCV000059156 RCV001290895 |
578 | L>R | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2066962078 RCV001345921 |
579 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290853 RCV000168460 rs786204255 |
580 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA219409 rs199474759 RCV000059157 VAR_021737 |
581 | I>T | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001235250 rs2066962216 |
581 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597708661 CA399004079 RCV000812301 |
582 | C>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597708661 RCV001344209 |
582 | C>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066962321 RCV001341333 |
582 | C>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303838 rs2066962353 |
582 | C>W | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA219413 rs199474760 RCV000059158 VAR_021738 COSM36863 RCV001266321 RCV000458151 |
583 | K>R | Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue Inborn genetic diseases NF1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000701646 rs1567845855 CA399004125 |
584 | K>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066962518 RCV001038170 |
585 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399004144 RCV000681411 RCV001253392 rs775670722 TCGA novel |
585 | L>* | Variant assessed as Somatic; impact. Neurofibromatosis, type 1 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar ExAC dbSNP |
|
RCV000484704 RCV000787330 RCV000467300 rs786202782 RCV003162704 RCV000165769 |
586 | T>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Inborn genetic diseases Neurofibroma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824504 rs876659242 CA399004154 |
586 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001221423 rs876659242 CA10580233 RCV000219393 |
586 | T>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001051668 rs2066962730 |
587 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597708695 RCV002402437 RCV001061876 |
587 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597708695 RCV000794506 CA399004166 RCV002319102 |
587 | S>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066962798 RCV001300671 |
588 | H>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002245599 CA399004213 rs1282299543 RCV000695424 |
589 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001314474 rs1282299543 |
589 | Q>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464426 RCV002318986 RCV001584128 RCV000780546 rs761559887 CA8485850 |
590 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002402231 rs767247726 CA8485851 RCV000463207 |
591 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs760256377 RCV000692156 RCV000166463 CA195938 |
592 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2066963100 RCV001341232 RCV002404797 |
593 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555613419 RCV000550689 CA399004296 RCV001764535 |
594 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167922 rs786204059 RCV001002339 |
595 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399004314 RCV000811770 rs1597708728 |
595 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231691 rs2066963288 |
596 | I>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402449 rs2066963329 RCV001064444 |
597 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066963397 RCV001056320 |
598 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209291 rs2066963397 |
598 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399004398 RCV000703721 RCV001171932 COSM220111 rs1567845906 |
599 | W>* | Neurofibromatosis, type 1 soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001217607 CA399004390 RCV001799669 RCV002311257 COSM220111 rs1131691130 |
599 | W>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000131934 RCV002483268 rs587782592 CA168912 RCV000470005 |
601 | R>W | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000658093 rs1555613421 RCV001249574 |
601 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472905 RCV002411427 RCV002506093 RCV000681095 CA16615173 rs1060500288 |
601 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1597708762 RCV000816975 |
602 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615583 RCV000465827 rs1060500322 |
602 | E>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317274 rs1555613427 CA399004479 |
604 | L>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA219417 RCV000059159 VAR_017553 rs142712751 |
604 | L>V | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1567845935 RCV000704845 |
606 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002406587 rs1567845937 CA399004543 RCV000694023 |
606 | C>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597708810 CA399004602 RCV000816587 |
609 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001301480 rs2066964109 |
612 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240190 rs2066964073 |
612 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824480 rs1597708816 |
614 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691080 RCV000680814 CA399004780 RCV000492781 RCV000549833 |
615 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM133073 RCV000660001 rs1555613543 CA399005005 |
616 | Q>* | Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002319057 RCV000632334 rs1555613543 CA399005003 |
616 | Q>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066989409 RCV001049349 |
617 | A>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1461412558 CA399005020 RCV000795955 |
617 | A>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000686488 RCV002475971 rs1131691135 CA399005015 RCV000492708 RCV002311259 |
617 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2066989481 RCV001223498 |
618 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989786 rs1597710342 |
618 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1184750227 RCV001221836 CA399005035 |
618 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV000706925 rs1567846634 |
619 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681033 RCV003162580 CA165700 rs587781821 RCV000130098 RCV000471843 |
619 | R>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399005064 RCV002319181 rs1597710354 |
620 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001241974 rs2066989737 |
620 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799495 rs1597710358 |
621 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525700 CA399005080 rs760346063 |
621 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000497140 rs753245823 COSM1167884 RCV002413364 CA399005095 COSM510733 |
622 | C>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome skin central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA8485874 RCV000221415 rs535869486 RCV001853534 |
622 | C>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001049442 rs2066990036 |
623 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399005106 RCV000538260 RCV002319019 rs1555613555 |
623 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319000 CA8485876 rs759555122 RCV000459580 RCV001013453 |
623 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002247663 rs765060733 CA8485877 RCV000220571 RCV000474617 RCV001291784 |
624 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000819884 CA399005119 rs1597710397 RCV002406882 |
624 | F>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349081 rs2066990176 |
625 | L>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319182 rs1597710409 |
626 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319088 CA8485878 RCV000698515 rs752591958 |
626 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001045101 rs2066990429 |
627 | F>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216295 rs2066990341 |
627 | F>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497244 rs1135402823 |
628 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000539630 RCV002413458 rs1555613558 |
628 | Y>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319021 rs555635097 COSM1666988 RCV000552255 CA399005169 |
628 | Y>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1567846670 RCV001238344 |
629 | G>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001535533 rs199474738 RCV000059160 CA399005175 VAR_002653 COSM3937317 RCV000506837 CA165914 RCV000206280 RCV000130191 RCV001009575 RCV003162463 |
629 | G>R | Neurofibromatosis, type 1 oesophagus Hereditary cancer-predisposing syndrome Gastric cancer NF1; affects splicing by creating a novel splice acceptor site [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ExAC gnomAD ClinVar UniProt dbSNP |
|
RCV000814234 CA399005179 rs1597710440 |
629 | G>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399005186 rs1135402824 RCV000497057 |
630 | V>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318959 CA350243 RCV000206181 RCV000761108 rs751795238 |
630 | V>I | Neurofibromatosis, type 1 Diffuse intrinsic pontine glioma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000812616 CA399005197 rs876660272 |
631 | G>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000793803 rs876660272 RCV000218849 CA10580234 |
631 | G>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757424379 RCV002408723 RCV000163708 CA189000 RCV001762362 RCV000632504 |
631 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002549390 rs876660272 CA399005199 RCV002319184 |
631 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066990838 RCV001290887 |
632 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597710497 RCV000818297 |
632 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290784 rs2066990906 |
632 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA161025 RCV002483222 RCV000712402 RCV000220588 RCV000121630 RCV000234708 rs370789267 |
632 | C>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA399005208 RCV000697211 RCV002319087 rs1567846698 RCV002264979 |
632 | C>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066990975 RCV001055951 |
633 | D>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8485880 COSM215674 RCV000459283 RCV001564100 rs527563505 RCV000217933 |
634 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000681096 RCV000467659 CA8485879 rs745906742 RCV002318511 RCV003155184 |
634 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399005247 rs1597710514 RCV002319183 RCV001860743 |
635 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780412565 CA8485881 RCV002317254 RCV000796467 |
636 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399005259 rs780412565 RCV000545833 |
636 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2066991161 RCV001051701 |
636 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695546 rs780412565 CA399005256 |
636 | S>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399005273 rs1456848774 RCV002319186 |
637 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8485882 RCV002274067 rs749745247 RCV000792307 RCV002315730 RCV001584372 |
637 | S>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555613567 RCV000632304 CA399005278 |
638 | G>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615586 RCV000472632 rs1060500275 |
639 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497146 rs1135402825 |
640 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399005318 rs1555613573 RCV002319101 RCV000811606 RCV000787332 |
640 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibroma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315791 CA399005315 RCV002527997 rs1555613573 |
640 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707578 rs769154907 CA399005322 |
641 | S>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003165563 rs769154907 CA8485883 RCV000214938 RCV000558090 |
641 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555613576 RCV002317280 CA399005330 |
641 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224358 rs2066991605 |
642 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2066991740 RCV001290854 |
644 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1373021403 RCV001304799 |
644 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1174202288 CA399005382 RCV003148919 RCV001042391 |
644 | S>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1597710605 CA399005404 RCV002319188 |
645 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000341061 CA161010 rs146051850 COSM1581303 RCV000680336 RCV000121627 RCV000286004 RCV000301396 RCV002492433 RCV000130724 COSM1581302 RCV000206514 |
645 | M>V | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis haematopoietic_and_lymphoid_tissue Neurofibromatosis, familial spinal [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs142079728 CA8485884 RCV001753676 RCV001238664 RCV000215309 |
646 | D>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001302331 rs1170252879 |
647 | H>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399005439 rs1397958327 CA399005440 RCV002319190 |
647 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1170252879 RCV001313076 RCV001776185 CA399005429 RCV002268471 |
647 | H>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8485885 RCV000228534 rs776251084 RCV002317749 |
647 | H>Y | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs2066992127 RCV001219001 |
648 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597710658 RCV000989787 |
650 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399005472 RCV000497234 rs1135402826 |
650 | L>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA399005478 rs1597710650 RCV002319187 |
650 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215715 rs2066992207 |
651 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319193 rs1597710690 RCV001244879 |
652 | R>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048599 rs2066992658 |
652 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319192 rs1597710675 RCV002551766 |
652 | R>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165246 RCV003162696 rs786202436 COSM120820 RCV000685531 CA192854 |
652 | R>C | upper_aerodigestive_tract Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002318953 CA161020 RCV001289105 RCV000121629 rs587778549 RCV001013832 RCV000477324 |
652 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001301871 rs587778549 |
652 | R>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597710712 CA399005506 RCV000797229 |
653 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492256 rs1131691108 |
654 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765281937 RCV001068450 |
654 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319194 rs1597710728 CA399005519 |
654 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318962 RCV000232520 CA8485886 rs765281937 |
654 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001339899 rs765281937 |
654 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399005527 RCV002317263 rs1555613596 |
655 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066993000 RCV001350089 |
655 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226533 rs775414476 CA8485887 |
656 | A>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555613598 CA399005531 RCV002420363 RCV000529749 |
656 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399005541 RCV001248657 rs1471484159 |
657 | S>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs763901597 RCV000220178 CA8485889 RCV001557652 RCV000466869 |
658 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000547195 RCV002415710 RCV000163421 RCV000825676 rs151138158 CA188240 |
659 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000163436 CA188275 rs757512142 RCV000205526 |
659 | R>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002418942 rs2066993430 RCV001309300 |
661 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597710793 CA399005594 RCV000794341 |
662 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549398 rs1597710793 RCV002319195 CA399005593 |
662 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs578141234 RCV000226087 CA8485891 RCV002318963 |
662 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2066993661 RCV001048142 |
663 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000163499 RCV000415075 RCV001124833 RCV002415711 RCV001124832 RCV000206471 rs140653372 RCV001124834 CA188459 RCV001549334 |
663 | G>R | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001290794 rs2066993468 |
664 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989788 rs1202226733 |
664 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003128803 CA8485892 RCV000456743 rs756145065 RCV002255383 RCV003168736 |
664 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597710824 RCV001009576 |
665 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_021739 RCV000129662 RCV001124836 rs145891889 RCV000587577 RCV000121628 RCV000200171 CA161015 RCV001124835 RCV001124837 |
665 | S>F | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal NF1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2066993840 RCV001202737 |
666 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659281 RCV000215733 CA10580238 |
666 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2066993930 RCV001057670 |
666 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659281 CA10580237 RCV000220660 |
666 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597710853 CA399005646 RCV003166334 RCV000814440 |
667 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001775648 CA194931 RCV000166077 rs749833271 RCV000197513 |
667 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001312797 rs1445299269 RCV002418944 |
668 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040892 rs1288056326 CA398982000 |
669 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1597712251 RCV000786905 |
671 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002315838 rs760900648 CA8485908 RCV000566011 RCV002526913 |
671 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA193636 RCV000165538 RCV000700067 rs786202632 RCV000508132 |
672 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002415624 CA169205 RCV000132074 RCV002464122 RCV000476573 rs371817372 |
672 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs146624509 RCV001009577 CA398982024 |
673 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs878853872 CA10583479 RCV000226748 RCV002417991 |
673 | C>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319054 CA398982026 RCV000632298 rs1555613753 |
674 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs779546178 RCV000681229 RCV000559747 RCV001125814 RCV001125813 RCV001125815 RCV002415908 CA10580240 RCV000213385 |
675 | G>R | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398982040 rs1294581001 RCV002319197 RCV001030571 RCV001046280 |
676 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2067015355 RCV001290949 |
676 | T>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492337 RCV000558816 rs587781807 RCV001556086 |
678 | P>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319199 rs1597712318 |
678 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8485912 RCV002265694 rs758691069 RCV000213376 RCV002293429 RCV000464265 |
678 | P>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002416089 rs1597712334 CA915949722 RCV001459936 |
678 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000034581 rs17881753 RCV000121631 RCV000200179 RCV000130295 CA161030 VAR_022255 |
678 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002319200 rs1597712318 |
678 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164974 rs758691069 RCV000543709 CA192203 |
678 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597712318 RCV002319198 |
678 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000200062 CA195401 rs758691069 RCV000166265 |
678 | P>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000697005 rs1567847384 RCV002422535 |
679 | I>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204850 RCV003162579 RCV000265986 RCV001009578 rs587781807 RCV000130078 |
679 | I>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064796331 RCV000485853 RCV002420238 RCV000497093 |
679 | I>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660003 rs1555613773 |
679 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214179 rs2067015935 |
679 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420691 CA398982056 RCV000632342 rs1555613775 |
680 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567847398 RCV000696461 |
681 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA334507 RCV002313014 RCV001775088 RCV000168265 COSM41805 RCV000415426 RCV000414746 RCV001257528 RCV000999937 COSM367174 rs768638173 |
681 | R>* | lung Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Rhabdomyosarcoma Hereditary cancer-predisposing syndrome soft_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000205161 rs786201768 CA190397 RCV000164229 |
681 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001223770 RCV001009579 CA398982069 rs1597712392 |
682 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000791506 CA398982070 rs1304889984 RCV002317309 |
682 | Q>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2067016480 RCV001051126 |
684 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597712398 RCV000815548 |
684 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238898 rs2067016517 |
684 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002222446 rs876658190 CA10580241 RCV000216178 RCV000233280 RCV002478783 |
685 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1597712403 RCV002319201 |
687 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318431 rs1597712422 |
687 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632501 CA398982133 rs1555613784 |
688 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001240704 rs1354039315 |
688 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398982132 RCV002319202 rs1555613784 RCV001062773 |
688 | E>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555613786 RCV000528061 RCV001039634 |
689 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8485915 rs771784652 RCV002318512 RCV000472940 |
689 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001038830 rs2067016932 |
690 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500364 RCV000477103 |
691 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001786393 RCV000705843 RCV003159595 rs1131691132 CA398982164 RCV000492230 |
691 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000536374 CA398982165 rs1131691132 RCV001311487 |
691 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290907 rs2067017033 |
691 | L>RA | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324534 rs2067017065 |
692 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555613792 CA398982175 RCV002316655 |
692 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067017258 RCV001218579 |
693 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681177 RCV000549001 RCV002316494 CA398982181 rs1555613794 |
693 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212284 CA398982196 RCV002319206 rs1597712476 |
694 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474761 RCV000810919 VAR_021740 RCV002415519 RCV000059161 CA219421 |
695 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. NF1 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs2067017409 RCV001172241 |
696 | W>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM41808 CA398982224 RCV000492419 rs1131691099 |
696 | W>* | Hereditary cancer-predisposing syndrome soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1182909595 RCV001061440 |
698 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555613801 CA398982252 RCV001030572 RCV000632397 RCV002315769 |
700 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1446159048 CA398982256 COSM225385 RCV001216847 |
700 | T>S | NS Neurofibromatosis, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1597712510 CA398982258 RCV000818622 |
701 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001232998 rs2067017751 |
702 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217540 CA10580243 rs876659251 |
703 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319207 rs1597712521 CA398982278 |
704 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658232 CA398982289 RCV002319205 |
706 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222829 rs876658232 CA10580244 RCV001071634 |
706 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597712535 RCV000800684 |
708 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691095 RCV001060333 RCV002420257 RCV000762240 CA398982309 RCV000492104 |
709 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000206238 CA350303 rs864622547 |
709 | C>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001205233 rs2067018223 |
711 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000541994 rs1400902839 CA398982325 RCV002314925 RCV000681115 |
711 | R>C | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001051921 RCV002319208 rs1479669686 CA398982326 |
711 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001341260 rs1479669686 |
711 | R>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555613811 RCV002317298 |
712 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM24502 RCV000059162 CA219425 rs199474727 VAR_017554 RCV001854233 RCV002318948 |
712 | H>R | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome mismatch repair deficient cancer cells [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs141382637 CA398982348 RCV002424758 RCV000760788 |
714 | C>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV001342731 rs2067018640 |
714 | C>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002430591 rs2067018762 |
715 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698354 rs1567847538 |
716 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754025938 CA8485917 RCV002319111 RCV000807728 |
719 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000808010 rs1597712619 |
720 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632285 RCV002298716 CA398982388 RCV001535716 rs1350468182 RCV002319053 |
720 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000220091 RCV002500735 RCV001775692 RCV000465439 rs759679443 CA8485918 RCV002415909 |
720 | R>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000660004 rs1555613816 RCV000579031 CA398982396 |
721 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067019239 RCV001345653 RCV002431973 |
721 | C>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398982391 rs1597712637 RCV000803196 RCV002319107 |
721 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002418808 RCV001235052 rs1597712637 |
721 | C>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567847571 RCV000690618 |
723 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214287 rs2067019399 |
726 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202954 RCV000166034 |
727 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597712665 RCV001003807 |
728 | V>missing | Juvenile myelomonocytic leukemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660005 rs1555613821 |
730 | N>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219219 RCV000469957 rs758893131 CA10580245 |
730 | N>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001314216 rs1176754107 |
730 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8485920 RCV000573213 RCV000538798 RCV001199898 RCV001755803 RCV002316495 rs778033578 |
730 | N>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000232549 rs758893131 CA195489 RCV001564267 RCV000166293 RCV002426798 |
730 | N>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002426797 RCV001175083 RCV000679379 RCV000460161 CA193274 rs185204667 RCV000165395 |
731 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001343060 rs2067019832 |
732 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067019858 RCV001042085 |
734 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398982483 rs1555613827 RCV000532421 |
735 | Y>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567847621 CA398982490 RCV000707587 RCV002319097 |
736 | N>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000545035 rs1555613831 |
737 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067020259 RCV001219545 |
737 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497183 rs1135402827 CA398982522 |
740 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067020397 RCV002431947 RCV001339338 |
740 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA289335068 RCV000572487 RCV001858122 rs533819802 |
741 | F>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV002298479 RCV000533490 RCV001567731 RCV002426694 CA165997 rs587781896 RCV000130233 |
742 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2067020544 RCV001243294 |
744 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA190631 rs786201833 RCV000164322 RCV002515137 |
744 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046049 rs786201833 |
744 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM977416 CA190772 RCV000164363 rs786201865 RCV000544130 |
745 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555613838 RCV000569713 |
746 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1176567641 RCV000556377 CA398982562 RCV002431543 |
746 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002319213 rs1597712751 CA398982572 |
747 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1471232737 CA398982568 RCV002317190 RCV002274069 RCV000802133 |
747 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA193036 RCV003162698 RCV002223800 RCV000165305 rs786202478 RCV000469775 |
748 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000989789 rs1597712758 |
749 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465924 CA193362 rs748064845 RCV000165422 RCV000681212 |
750 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002225738 CA398982595 RCV000811218 RCV002442715 RCV000709413 rs1567847681 CA398982594 |
751 | G>R | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
RCV001218797 rs2067030499 |
752 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306335 rs2067030463 |
752 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232903 rs2067030522 |
752 | R>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000230362 RCV002318964 rs758325102 CA8485941 |
753 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000534180 CA398982695 RCV002448632 RCV002256345 rs1555613912 |
754 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398982688 RCV001344044 rs1597713272 RCV002319214 |
754 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000698942 rs1567847905 RCV000762985 CA398982714 COSM1302615 COSM24579 |
756 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. urinary_tract soft_tissue Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001344961 rs1567847905 |
756 | Q>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1222770265 CA398982716 RCV001228357 |
756 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1270674587 CA398982727 RCV000660009 |
757 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398982736 rs1555613916 RCV000688869 |
757 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067030828 RCV002276602 RCV001053227 |
758 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398982739 RCV000791818 rs777759192 |
758 | R>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA398982749 RCV000813431 rs1597713310 |
758 | R>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001236996 rs2067030950 |
758 | R>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066194 rs2067031123 |
759 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040885 rs2067031065 |
759 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229941 rs2067031096 |
759 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166364 rs978948341 CA398982754 RCV000816988 |
759 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA398982764 RCV002317270 rs1191883088 |
760 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000809149 RCV000165347 rs786202504 CA193150 |
761 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002319216 RCV001349090 RCV002489520 CA289335255 rs786202504 |
761 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001755933 RCV002316597 rs746850653 RCV001221678 CA8485943 |
761 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000059164 rs199474762 CA192983 RCV001001401 VAR_021741 RCV000165288 RCV000220933 |
763 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA336482 rs199474762 RCV000196515 RCV000222376 |
763 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597713340 RCV000804250 CA398982798 RCV002442682 |
763 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002510986 RCV000816782 rs1597713360 |
765 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067031470 RCV002451203 RCV001050146 |
765 | R>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002486301 rs1383770460 CA398982818 RCV001325242 RCV002456454 |
765 | R>C | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000632374 CA398982817 rs1383770460 |
765 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000221393 VAR_021742 CA219435 RCV001009580 RCV000059165 RCV002265591 RCV002444523 rs199474777 RCV000197680 |
765 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.619e-05 impact. NF1; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000681065 COSM977418 COSM977417 RCV001861889 CA398982823 RCV002458192 rs199474777 |
765 | R>L | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA339103 RCV000200108 rs863224657 |
766 | I>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786204154 RCV000168149 |
767 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211785 rs746127097 |
767 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211786 rs2067031890 |
768 | H>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597713390 CA398982865 RCV002319215 |
768 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166900 CA196983 rs786203543 |
769 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070650 rs2067031963 |
769 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555613928 RCV002298668 CA398982895 RCV002315812 |
771 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660010 rs1555613926 |
773 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218301 rs2067032198 |
774 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA289335308 rs917302286 RCV002448941 RCV002279453 RCV000632452 |
774 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000706832 rs1567847962 |
775 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067032355 RCV001340912 |
775 | E>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805535 CA398982944 RCV002265007 COSM1259038 rs1555613932 RCV001205954 COSM1259039 |
775 | E>D | Neurofibromatosis, type 1 oesophagus [ClinVar, Cosmic] | Yes |
ClinVar dbSNP ClinGen cosmic curated Ensembl |
|
rs2067037211 RCV001347751 |
776 | A>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002456525 RCV001350583 rs199474771 |
776 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000059166 VAR_067205 rs199474771 RCV002513774 COSM220099 CA219440 |
776 | A>T | Neurofibromatosis, type 1 soft_tissue a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA398983015 RCV000506917 rs1555613983 RCV001844182 |
777 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224377 rs199474745 |
777 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398983006 rs876658853 RCV000786988 |
777 | W>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001569303 RCV000414491 RCV002453817 RCV000541442 RCV000807897 CA398983008 CA10580250 RCV000219741 rs876658853 RCV002444867 |
777 | W>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632274 RCV001009589 RCV002444524 CA219445 RCV000059167 rs199474745 VAR_021743 |
777 | W>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002317253 CA398983045 rs1555613989 RCV001051410 |
779 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067037681 RCV001290825 |
780 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689601 rs1567848129 |
780 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1205746953 CA398983050 RCV002317264 RCV000802079 |
780 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199474746 VAR_021744 RCV002316212 CA219449 RCV000468694 RCV000059168 |
780 | T>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs199474746 RCV002497068 RCV000681848 RCV002448633 RCV000553902 CA398983055 |
780 | T>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1135402828 RCV000497233 |
780 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA336494 RCV000215892 RCV000196521 rs199474763 |
781 | H>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_021745 CA219453 RCV000059169 RCV002470751 RCV000218636 rs199474763 |
781 | H>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA398983065 RCV000824148 rs199474763 |
781 | H>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001340840 RCV002447399 CA398983061 rs1443362216 |
781 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1203924788 CA398983079 RCV002445350 RCV001067898 |
782 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1352143970 RCV002319223 CA398983075 RCV001345313 |
782 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1135402829 RCV000497100 |
783 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1710093 rs199474778 COSM1710094 RCV000230729 CA10583483 |
784 | W>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. skin [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA219461 rs199474778 VAR_021746 RCV001854234 RCV000059171 |
784 | W>C | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001290805 rs199474730 VAR_021747 RCV000525652 RCV000059170 CA219457 |
784 | W>R | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001221530 rs2067038047 RCV001030573 |
784 | W>S | Neurofibromatosis, type 1 Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205856 rs2067038120 |
785 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398983110 RCV001297099 RCV002319217 rs1597713756 |
785 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398983125 rs1555613999 RCV000660013 |
786 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398983122 RCV000809111 rs1555613999 RCV002315712 |
786 | Q>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001339195 rs2067038399 |
787 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071647 rs2067038509 |
791 | I>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067038542 RCV001217040 |
791 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311902 rs1555614005 CA398983195 RCV001858120 RCV001584371 |
792 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398983197 COSM560396 RCV003169056 RCV000823704 COSM560397 rs1597713777 RCV003141860 |
792 | L>H | lung Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Gastric cancer [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2067037965 RCV001214033 |
793 | N>GNKQQS* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8485967 RCV001127932 RCV001127934 rs772543826 RCV001127933 RCV000691531 RCV002317187 |
793 | N>T | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567848178 RCV000694300 |
794 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8485968 RCV001351740 rs773624220 |
794 | Y>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002317291 RCV002535752 rs1555614011 RCV000787329 |
797 | A>missing | Neurofibromatosis, type 1 Neurofibroma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706982 RCV002316633 rs1181350360 CA398983257 RCV001755935 |
797 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002319224 rs1135402830 CA398983261 |
798 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398983263 rs1135402830 RCV000497189 |
798 | K>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398983265 RCV000632499 rs745498566 |
798 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615595 RCV002451074 RCV000465813 rs1060500317 |
799 | M>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001342701 rs2067039365 |
799 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698073 rs1060500317 CA398983275 |
799 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2067039387 RCV001201667 |
800 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002317257 CA8485972 RCV001858321 rs752404130 |
802 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA398983329 RCV001000702 rs1567848213 RCV000685435 |
803 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166068 CA194909 rs786202976 |
803 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000546417 rs1555614180 |
804 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761109477 RCV000469403 CA16615612 RCV000681141 RCV002313154 |
804 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2067064355 RCV001218753 |
807 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597715090 RCV002319226 CA398983819 |
807 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001242187 rs2067064463 |
808 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567848731 RCV000704677 |
809 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319227 rs1597715102 |
810 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567848739 RCV000697009 |
812 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002472952 RCV000130236 CA166008 RCV000554294 rs587781899 |
812 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10580254 RCV000530610 RCV000219048 rs587781899 |
812 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878853876 CA10583485 RCV000228548 |
813 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067064699 RCV001209234 |
814 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002491130 RCV000818641 CA398983888 rs1555614184 RCV000572871 RCV002317211 |
814 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796000 rs1555614185 CA398983891 |
814 | K>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614185 RCV002316674 CA398983894 |
814 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002550807 CA398983902 RCV002319229 rs1597715123 |
815 | R>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067064931 RCV001290789 |
816 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000762986 rs886041347 CA10603442 COSM24444 RCV000376782 RCV000626642 RCV002311233 RCV000497042 |
816 | R>* | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome soft_tissue Cafe au lait spots, multiple Neurofibromatosis, familial spinal [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001063317 CA398983913 rs762709897 |
816 | R>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762709897 CA348541 RCV000204295 RCV002317741 |
816 | R>Q | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000701325 rs1567848755 |
817 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597715147 RCV002319230 RCV002551780 CA398983922 |
817 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000708615 rs1567848761 RCV001387605 |
819 | H>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597715179 RCV000800767 |
819 | H>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202297 RCV000165038 CA192364 |
819 | H>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398983944 rs786202297 RCV002319233 |
819 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597715162 RCV002319232 CA398983943 |
819 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761408020 CA191219 RCV000164539 RCV002505206 RCV001307612 |
820 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002319234 rs1303972238 CA398983963 |
821 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2067065463 RCV001217042 |
822 | G>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067065463 RCV002451508 RCV001220613 |
822 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500267 RCV000466726 CA16615177 |
823 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597715196 CA398983984 RCV002319235 |
823 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001295578 rs2067065647 |
824 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214072 rs2067065609 |
824 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227090 rs2067065647 |
824 | G>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1666608 RCV000466584 COSM1666609 CA16615172 rs1060500314 |
825 | S>C | Neurofibromatosis, type 1 adrenal_gland [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA10580255 RCV000632355 RCV000679380 rs767069721 RCV000219385 |
826 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767069721 RCV002448942 CA8485992 RCV000632468 |
826 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398984015 RCV002319103 RCV000796204 rs1597715215 |
827 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041556 rs2067065846 |
828 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691069 RCV003152711 RCV001595010 RCV000492223 |
828 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230953 rs2067065917 |
829 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398984043 RCV002526882 RCV002317276 rs1555614202 |
829 | S>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567848794 RCV002424605 RCV001766475 CA398984045 RCV000689147 |
829 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614204 CA398984064 RCV001344167 RCV002315727 |
831 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597715231 RCV002319237 |
831 | T>KS | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615179 rs1060500283 RCV001292906 RCV000476226 RCV002318503 |
832 | D>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Juvenile myelomonocytic leukemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350837 rs2067066207 |
833 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688604 rs1555614207 CA398984104 RCV000627380 |
835 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2067066435 RCV001247798 |
836 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1348129244 RCV000800838 RCV000680802 CA398984133 |
837 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555614211 CA398984135 RCV000584234 |
837 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347944 CA165409 rs587781747 RCV000129953 CA398984127 RCV000757559 |
837 | W>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398984143 rs1555614212 RCV000531825 |
838 | I>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474812 CA16615174 rs863224352 |
838 | I>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002431902 rs1555614212 RCV001317139 |
838 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567848834 CA398984152 RCV000693753 |
839 | N>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001228734 rs779931789 CA8485995 |
840 | M>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA398984161 RCV000681200 rs779931789 RCV001035114 RCV002424578 |
840 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2067066952 RCV001172242 RCV003169088 |
841 | T>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240431 rs2067066922 |
842 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804197 rs1597715284 |
842 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319241 CA398984189 rs1597715290 |
842 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000856623 CA658761000 rs1597715286 |
842 | G>SFH | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_010992 rs199474785 RCV002453377 COSM3402732 COSM3402731 RCV000632503 RCV000059173 RCV000571726 CA219469 |
844 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system NF1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA398984208 RCV000856622 rs137854566 |
844 | L>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000856621 VAR_032468 CA219473 COSM3402733 RCV000059174 COSM3402734 rs137854566 |
844 | L>P | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. central_nervous_system NF1 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000000404 VAR_002654 rs137854566 CA251482 |
844 | L>R | Neurofibromatosis, type 1 NF1; sporadic [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001320199 rs1060500367 |
845 | C>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000476269 CA16615181 rs1060500254 |
845 | C>R | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA16615183 COSM133081 rs1060500367 RCV000456671 |
845 | C>Y | Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555614229 CA398984227 RCV001091259 RCV000556992 |
846 | A>D | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000856624 rs1555614226 CA398984225 |
846 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000544594 rs1555614226 CA398984222 |
846 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230376 rs2067067405 |
847 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753552408 RCV000537852 RCV001755804 CA8485996 |
847 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000205919 RCV000492608 RCV003162464 VAR_021748 RCV000845192 CA219477 RCV000507716 RCV002054910 RCV002453378 rs199474747 RCV000059175 |
847 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Atypical coarctation of aorta Neurofibromatosis, familial spinal Gastric cancer NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199474747 RCV000694567 CA398984236 |
847 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690355 CA398984232 rs753552408 |
847 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002490663 VAR_021749 RCV000059176 RCV000687480 CA219481 rs199474748 |
848 | G>E | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1060500368 RCV002318997 RCV000793191 CA398984238 CA16615616 RCV000470292 |
848 | G>R | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003151846 RCV001290832 rs1567848878 |
849 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064794275 RCV000478250 CA16620361 COSM1382070 COSM35852 RCV002525828 |
849 | G>* | Neurofibromatosis, type 1 large_intestine central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001051807 RCV000709414 rs1567848878 |
850 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795706 CA398984260 RCV002424822 rs1424956205 |
850 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000660014 rs1555614260 |
851 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398984273 rs2230852 RCV001860498 RCV001000841 |
851 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001319656 rs2067067965 |
851 | C>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220845 rs876659440 RCV001853566 CA10580257 |
852 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000760742 RCV000660015 CA398984299 rs1555614261 |
854 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001245975 rs2067068283 |
855 | R>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203716 RCV000689149 RCV000167139 CA197585 RCV001753572 |
855 | R>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002429473 RCV000467677 CA16615458 rs1060500259 |
857 | N>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500299 RCV000465212 CA16615621 RCV002318506 RCV001753863 RCV003114578 RCV002480345 |
857 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs369493270 RCV000475700 RCV001027838 RCV000164772 CA191732 RCV003224179 RCV000681003 |
858 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000213205 rs587778550 RCV000121632 CA161035 RCV001854661 |
858 | S>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001753670 CA10580258 RCV000689148 RCV000213294 rs876659829 |
859 | G>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002319243 rs1597715404 CA398984361 |
860 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614266 RCV002315820 CA398984369 RCV001853784 |
861 | A>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001778805 rs768425956 RCV000231109 RCV003165557 CA8486001 RCV000222895 RCV000413260 |
861 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768425956 RCV002431544 CA289336076 RCV000534500 |
861 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002319244 RCV001205506 rs1597715417 CA398984377 |
862 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200302954 RCV002426541 RCV000200298 CA215735 RCV000034582 RCV000765346 RCV000222839 |
862 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000132382 CA169728 rs587782814 |
863 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1344682851 RCV002451269 RCV003148922 CA398984388 RCV001063125 |
863 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000218184 rs876658207 |
864 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA195318 RCV000166232 rs786203084 RCV000696866 |
865 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632379 RCV000220387 CA8486003 rs767159555 |
866 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555614272 CA398984419 RCV000632289 |
866 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039271 rs2067069052 |
867 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA348994 rs864622715 RCV000204806 RCV002426971 |
867 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853877 RCV000233970 |
869 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231786 CA10583487 rs878853878 |
869 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207834 RCV002436800 rs2067069318 |
871 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1382071 rs199474739 VAR_032469 RCV002316213 COSM1382072 CA219485 RCV000059177 RCV000226490 |
873 | R>C | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA398984498 rs199474739 RCV001565819 RCV000693877 |
873 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002316592 CA289336163 RCV000574292 RCV001755932 rs949092641 RCV000821403 |
873 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs949092641 RCV001050106 |
873 | R>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398984499 rs949092641 RCV002319024 RCV000527806 |
873 | R>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1567848976 RCV000690416 |
874 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003139597 RCV000459275 rs1555614284 |
874 | K>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA |
|
RCV000130296 rs587781933 |
875 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597715477 RCV000788998 CA915949795 |
875 | G>* | Neurofibroma [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
rs754734571 RCV001218664 |
875 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754734571 RCV000822272 CA8486006 RCV002317305 |
875 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8486007 RCV000472319 RCV002429476 rs1060500361 |
875 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549435 RCV002319249 rs1597715515 CA398984570 |
877 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8486009 RCV000458436 RCV000220745 rs764950557 RCV001770181 |
877 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM96329 CA8486010 RCV001840629 rs372049168 RCV000538263 RCV001821505 RCV000566661 |
878 | I>T | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597715490 CA915949796 RCV002319247 |
879 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216052 rs1156571421 |
880 | V>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220918 CA8486013 RCV000526958 rs376666221 |
881 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002319080 RCV000685990 CA8486012 rs777868654 |
881 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002318984 RCV002502603 RCV000475812 rs1060500263 CA16615459 |
881 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757843283 CA398984729 CA398984732 RCV002319251 |
884 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002318985 rs1060500272 RCV000470422 CA16615464 |
885 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398984772 RCV001338492 rs781549970 RCV000220928 CA10580260 |
886 | N>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV002319025 RCV001775846 RCV002248762 COSM510743 CA398984779 rs1251621684 RCV000552198 |
887 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1567849029 CA398984793 RCV000688090 |
887 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000327872 rs886041348 RCV000660016 RCV002429207 |
889 | T>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001756046 RCV000632490 rs1314766383 CA398984826 |
889 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs369912079 RCV000205754 CA349864 RCV001795334 RCV002318960 |
889 | T>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs1555614293 RCV000632322 |
890 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771012891 RCV000470466 CA16615465 |
890 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs771012891 RCV000222147 CA10580261 RCV001300792 |
890 | P>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001065330 rs1060500256 |
891 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615185 RCV000565524 RCV000457646 rs1060500256 |
891 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000581857 RCV001008107 RCV002316614 rs1555614296 RCV001002165 |
892 | S>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746324091 RCV002288877 CA8486014 RCV000804574 RCV000213503 |
892 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001066195 rs2067071059 |
893 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209099 CA398984885 rs1597715604 |
893 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398984906 rs1282493551 RCV001050822 |
894 | F>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002436998 RCV001290912 rs770295902 CA8486015 |
895 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555614301 RCV000632506 CA398984935 |
895 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214356 RCV000533027 CA10580262 rs876659129 |
895 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052810 rs1189816828 |
896 | D>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224658 RCV000196746 CA336675 |
897 | R>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs863224658 CA398984977 RCV000540934 RCV002438306 |
897 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000461127 rs775949348 CA8486016 RCV002318508 |
897 | R>W | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA165101 RCV002477208 RCV000129792 RCV000059178 VAR_002655 RCV000823359 rs199474786 |
898 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal NF1; sporadic [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001070068 rs199474786 |
898 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597715649 RCV000816181 CA398985031 |
901 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067071786 RCV001290883 |
902 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229723 rs2067071823 |
902 | M>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1353007349 RCV001298536 |
902 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558462 rs1555614310 |
904 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067072110 RCV001224943 |
909 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567849105 RCV000685438 CA398985187 |
909 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001037748 rs1555614313 |
910 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614314 CA398985197 RCV002315720 |
910 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614313 RCV000474179 |
911 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614315 CA398985224 RCV002317161 |
911 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319114 rs1597715673 RCV000810382 CA398985231 |
912 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660017 rs1555614319 |
914 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA915949804 rs1597715646 RCV000810503 |
914 | R>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318513 rs776447057 CA8486020 RCV000461369 |
914 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002507190 RCV002440426 rs765848298 CA8486019 RCV000686766 |
914 | R>W | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001343580 rs2067072617 |
916 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8486022 RCV000761186 RCV000679381 RCV000220288 RCV001818516 rs765043916 RCV000226024 |
916 | N>S | Acute monoblastic leukemia Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224357 rs2067072694 |
917 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752455591 RCV000529697 CA8486023 RCV002319026 |
917 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1131691078 RCV000492637 |
918 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319105 RCV000797281 rs1131691110 CA398985411 |
919 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398985398 rs1597715708 RCV002319256 |
919 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474775 CA219490 RCV002513775 RCV000059179 VAR_021750 |
920 | L>P | Neurofibromatosis, type 1 NF1; patient with cafe-au-lait spots; may be a distinct form of NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199474775 CA398985427 RCV000805016 |
920 | L>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318990 CA8486024 RCV000457432 rs567023433 |
921 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001054773 rs2067073056 |
922 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398985447 RCV002440466 RCV000694083 rs1378141985 |
922 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000497105 rs1135402831 CA501154 |
922 | G>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000681154 CA398985468 RCV003163086 rs1567849138 |
923 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067073241 RCV001239404 |
925 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398985578 rs1277935019 RCV000559425 |
928 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001216362 rs2067073386 |
928 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660018 rs1555614338 CA398985607 RCV002440405 |
929 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA398985610 rs1555614338 RCV000632400 |
929 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497167 rs1135402832 CA398985629 |
930 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398985651 CA398985649 rs886052800 RCV002316626 |
932 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003165572 CA10580263 rs876659779 RCV000217452 |
932 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001812855 RCV000382833 RCV000328141 RCV002319478 rs886052800 RCV000288428 RCV000324521 CA10648994 |
932 | M>V | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA398985673 RCV002307567 rs1555614342 RCV000632333 RCV002438657 |
933 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210829 rs2067073865 |
934 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000678464 rs1567849174 |
934 | F>missing | Cafe au lait spots, multiple [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614343 RCV000531211 |
934 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164309 RCV000467221 RCV002492655 CA190596 rs786201823 |
935 | N>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002436683 RCV001069840 rs2067074098 |
936 | K>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002298667 CA398985713 RCV002315761 rs1555614345 |
936 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567849184 RCV001035775 |
937 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000701761 CA398985734 RCV002319562 rs1567849181 |
937 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067074174 RCV001325871 |
938 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398985781 rs1443857560 RCV001312983 |
940 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002317751 CA8486026 RCV000572241 rs368995630 RCV000229723 RCV000612518 |
940 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597715824 RCV002319615 |
941 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304953 rs2067074387 |
941 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580264 RCV000223333 RCV001753672 RCV002433939 rs876659888 RCV000632385 |
941 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2067074423 RCV001252982 |
942 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035078 rs2067074457 |
942 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316641 rs1555614350 CA398985808 RCV000695693 |
942 | S>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319568 rs1567849199 CA398985815 RCV000710042 |
943 | K>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567849208 RCV001290933 RCV001548643 |
945 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209023 rs1567849208 RCV001729814 |
946 | D>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067074650 RCV001056952 |
946 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000232579 CA10583488 rs878853879 |
947 | S>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA398985858 RCV000695892 rs1567849219 RCV002440478 |
947 | S>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660019 rs1555614354 RCV001038427 |
948 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398985866 RCV001223944 rs1567849237 RCV000756429 |
948 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497020 rs1135402833 |
950 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660020 rs1555614358 |
950 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615471 rs1060500357 COSM3402735 RCV000757557 RCV000464458 COSM3402736 |
950 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA337604 rs863224446 RCV000198059 |
950 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597716277 RCV000804638 CA398985948 |
951 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750488772 RCV001303835 RCV002316623 CA398985967 |
952 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2067082667 RCV001290807 |
953 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536958 rs1555614418 |
956 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326511 rs2067082802 |
956 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398986012 RCV002319580 rs1323973848 RCV000803030 |
956 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1323973848 CA398986010 RCV002315717 RCV002527994 |
956 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555614423 RCV000632414 RCV002438659 |
957 | N>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497111 rs1135402834 CA398986020 |
957 | N>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660022 rs1555614426 |
958 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660023 rs1555614429 |
960 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067083151 RCV001205785 |
962 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497197 rs1135402835 |
962 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659474 CA10580266 RCV000220631 |
962 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003165575 RCV000660024 RCV000219051 RCV001782711 rs876660444 CA10580267 |
963 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Gastric cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614437 RCV000521415 RCV001069105 |
964 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209801 rs2067083355 |
964 | T>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067083472 RCV001290804 |
965 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001773491 RCV001218789 rs1555614438 |
965 | I>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000559851 CA398986108 rs1555614438 |
965 | I>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319566 rs1567849533 RCV000709416 CA398986116 |
966 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000709415 RCV000215958 COSM3387783 RCV003137822 COSM3387782 rs876658849 CA10580268 |
966 | A>T | Neurofibromatosis, type 1 pancreas Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002485430 CA10580269 RCV000214387 RCV000536111 rs876660279 |
967 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001040679 rs2067083695 |
968 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319624 rs1597716342 CA398986137 |
968 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000059181 VAR_021751 CA219498 rs199474749 |
968 | M>R | Variant assessed as Somatic; impact. NF1 [NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000129472 RCV000819721 CA164475 rs587781499 RCV000681213 |
968 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001239277 rs2067083880 |
972 | L>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1710095 RCV000813265 rs1597716348 CA398986182 RCV002319587 COSM1710096 |
972 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000793509 rs1597716348 CA398986181 |
972 | L>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000681074 rs557875547 RCV001086794 RCV000165243 CA192846 RCV002433718 |
974 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001237206 RCV002436927 CA8486051 rs755404523 |
976 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398986245 RCV000816936 rs1597716367 |
978 | G>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398986247 rs1597716371 RCV002337065 |
978 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597716367 RCV001061670 |
978 | G>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614448 RCV002316669 |
979 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040080 rs2067084249 |
979 | S>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067084275 RCV001247487 |
980 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290809 rs2067084312 |
981 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067084366 RCV001071278 |
981 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398986276 RCV002315775 rs1555614449 |
981 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597716380 RCV001009590 |
982 | H>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597716378 RCV000815184 |
983 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001252972 rs2067084444 |
983 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614453 RCV000571075 |
985 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001567993 RCV002438308 CA398986319 RCV000548674 COSM220073 rs1555614455 |
985 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA398986325 RCV000701096 rs1567849565 |
985 | Q>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221671 CA10580270 rs876659417 RCV001070080 |
986 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615473 rs1060500329 RCV000474396 |
987 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002440417 rs746670929 CA8486053 RCV000685347 |
988 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA166123 RCV000130299 RCV001050120 rs587781936 |
988 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707267 rs876658299 RCV000219343 CA10580271 RCV003165553 |
990 | T>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555614458 RCV000524951 |
991 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820786 RCV002508267 rs1597716432 RCV001003808 RCV002345891 |
991 | M>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Juvenile myelomonocytic leukemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211258 rs1060500298 |
991 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500298 RCV000458345 RCV002436387 CA16615184 |
991 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398986384 RCV000563360 RCV000632519 RCV002316601 RCV000680875 rs1268543864 |
991 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_002656 | 991 | M>del | NF1; most patients carrying the mutation do not manifest cutaneous neurofibromas [UniProt] | Yes | UniProt |
|
RCV003162200 rs267606606 RCV000384725 RCV002496217 RCV000215737 RCV000000393 RCV000196290 RCV000000392 |
992 | M>missing | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567849596 CA398986402 RCV002346211 |
992 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438518 rs1555614460 CA398986416 RCV001385059 RCV000584979 |
993 | L>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211054 rs2067085209 RCV002436813 |
994 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039622 rs2067085170 |
994 | N>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398986437 rs1597716466 RCV002346213 RCV001220879 RCV001772190 |
995 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001535658 rs2067085335 RCV001053596 |
997 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398986458 COSM35637 RCV002345833 rs1555614462 RCV000810271 |
997 | R>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA398986456 RCV000526160 COSM341094 COSM341093 rs1555614462 |
997 | R>M | lung Neurofibromatosis, type 1 large_intestine Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000804682 CA398986502 COSM560395 RCV000489444 rs755501749 RCV000540077 CA398986500 COSM560394 |
997 | R>S | lung Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD NCI-TCGA |
|
rs1555614462 CA398986455 RCV000688659 |
997 | R>T | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001290812 rs2067085335 |
997 | R>W | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002315733 rs1555614496 CA398986509 |
998 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067090218 RCV001068500 |
999 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597716817 RCV000984937 |
1000 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001591197 RCV002316497 rs367684252 CA8486073 RCV000552854 |
1000 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000704579 RCV002317231 rs753082620 CA8486074 |
1000 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002498819 RCV000165811 RCV000706070 rs753082620 CA194245 |
1000 | R>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001066812 rs753082620 |
1000 | R>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067090473 RCV001290893 |
1003 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067090561 RCV001290936 |
1004 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1475800240 CA398986571 RCV000810518 |
1004 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA398986583 RCV001327138 RCV002317289 rs1555614504 |
1005 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614502 RCV002316617 CA398986577 RCV000681104 RCV000817182 |
1005 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002440667 CA8486076 rs755636107 RCV000799785 |
1006 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16615189 rs1060500383 RCV000476983 |
1006 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858837 rs1597716866 RCV002434380 RCV000996519 CA398986622 |
1009 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497116 rs1135402837 |
1010 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035663 rs2067091045 |
1012 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398987329 rs1597716883 RCV002354923 |
1012 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318600 RCV000497204 RCV001568155 rs1135402838 |
1013 | T>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166306 rs786203132 CA195527 RCV000546149 |
1013 | T>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002440689 RCV000803047 rs1597716888 CA398987335 |
1013 | T>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402839 RCV000497059 CA398987348 |
1014 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402839 CA398987346 RCV000554048 |
1014 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632420 rs1555614514 |
1015 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398987362 RCV002311236 RCV001379172 rs1131691112 |
1015 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597716910 RCV002442760 RCV000821634 |
1016 | C>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398987373 RCV000497148 rs1135402840 |
1016 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000229259 CA10583489 rs878853880 |
1016 | C>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067091492 RCV001210163 RCV001576562 |
1016 | C>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067091646 RCV001061629 |
1017 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447059 RCV001204635 rs2067091604 |
1017 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201891488 RCV000223663 RCV002515635 CA10580273 |
1017 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000823164 CA398987390 rs1597716924 |
1018 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1237938582 CA398987395 RCV000816453 |
1018 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398987404 RCV000545101 rs1555614520 |
1019 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002360749 RCV002477565 CA398987398 RCV000692799 rs1567849826 |
1019 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047618 rs2067091912 |
1020 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067091885 RCV001041384 RCV001819751 |
1020 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000603080 rs1555614521 |
1020 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227971 rs878853881 |
1021 | V>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398987428 RCV000696587 RCV002315753 rs1355411201 |
1021 | V>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567849843 RCV000705979 |
1022 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067092180 RCV001297417 |
1022 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290793 rs2067092112 |
1023 | M>K* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002372732 rs786203657 CA398987462 |
1024 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA197395 rs786203657 RCV000167060 |
1024 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398987469 RCV000632398 rs1555614525 RCV002319545 |
1024 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580274 RCV000216587 rs876659876 RCV000466955 |
1025 | R>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000557782 rs1555614526 |
1026 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000508124 CA398987492 rs1555614529 RCV000820663 |
1026 | R>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166138 CA398987502 rs1597716965 RCV000796344 |
1026 | R>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319576 CA8486079 RCV000792045 RCV001797143 rs774066804 |
1027 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002382245 rs1597716976 CA398987558 |
1029 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002322016 RCV001207293 rs2067092609 |
1029 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567849864 CA398987577 RCV002325424 RCV000703421 |
1030 | S>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067092561 RCV001091261 RCV001389309 |
1031 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614535 RCV000632292 |
1032 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747965344 RCV001218913 |
1032 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316634 rs1555614527 |
1033 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398987638 rs1131691104 RCV000492471 RCV001036670 |
1033 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325602 rs137854553 RCV000815367 RCV001577034 CA398987686 |
1035 | M>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA251455 rs137854553 RCV000000375 VAR_002657 |
1035 | M>R | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002323858 rs137854553 CA398987688 RCV000523086 RCV000497241 |
1035 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771694969 RCV000681296 CA349155 RCV000204972 RCV000572733 |
1035 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555614540 CA398987703 RCV000632393 |
1036 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002523993 RCV002311252 rs1131691127 |
1037 | F>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000583135 rs1131691127 |
1038 | R>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472100 CA16615190 rs1060500313 |
1038 | R>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398987831 RCV001042806 RCV002315768 rs1555614616 |
1038 | R>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000989791 rs1597717017 CA398987754 |
1038 | R>W | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597717516 RCV002382247 CA398987847 |
1039 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398987854 rs1555614619 RCV000508466 RCV000696636 |
1040 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348385 rs2067101256 |
1040 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660027 rs1555614624 |
1041 | M>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212466 rs1446427729 CA398987889 |
1042 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1597717530 RCV002322144 RCV001240778 |
1043 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747274278 RCV001221396 CA8486099 |
1044 | Y>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002382248 CA398987912 rs1597717533 |
1044 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398987941 rs1567850142 RCV000689278 |
1045 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000196483 rs863224490 |
1047 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398987973 rs1555614631 RCV000632417 |
1047 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614631 RCV001236647 |
1047 | D>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232929 rs2067101647 |
1047 | D>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM436319 RCV000528513 COSM436318 CA398987993 rs1555614635 |
1048 | W>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555614634 RCV000547974 CA398987981 |
1048 | W>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_071669 | 1048 | W>R | NF1 [UniProt] | Yes | UniProt |
|
CA16615481 RCV002313158 rs1060500343 RCV000462322 |
1049 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398988027 RCV001858325 RCV001755951 RCV002317296 rs1555614639 |
1050 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597717585 CA398988020 RCV000823600 |
1050 | M>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067101757 RCV001205733 |
1050 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067101855 RCV001290886 |
1051 | G>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398988044 rs1597717598 RCV000811890 |
1052 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067101916 RCV001223505 |
1052 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319929 rs1597717610 CA398988066 COSM327926 RCV000824219 COSM1302616 COSM1302617 |
1053 | S>* | Neurofibromatosis, type 1 adrenal_gland Hereditary cancer-predisposing syndrome urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555614642 RCV000702190 RCV002315846 |
1054 | N>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs866069972 RCV001759811 RCV001058329 |
1055 | Q>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536687 CA8486101 RCV002323925 rs776907522 |
1056 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000812590 CA398988135 RCV002397678 RCV002285416 rs1367746167 |
1057 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002322281 RCV001341647 rs2067102400 |
1058 | D>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002323926 rs1387858614 RCV000549188 CA398988175 |
1058 | D>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002551814 RCV002400183 CA398988158 rs1597717634 |
1058 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597717658 RCV002400184 CA398988206 RCV001873315 |
1059 | D>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597717639 RCV002400185 |
1060 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001811126 rs1555614646 CA398988234 RCV000632350 |
1060 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046410 rs1597717664 |
1060 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597717664 RCV002400186 CA398988229 |
1060 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290835 rs1597717672 |
1062 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1314168961 RCV001320917 CA398988260 RCV002315706 |
1062 | K>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1597717672 RCV000809452 |
1063 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009592 rs1597717684 |
1063 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402841 RCV002323859 RCV000497155 CA398988286 COSM24447 |
1063 | C>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000681113 RCV001861891 CA8486104 RCV003163085 rs776079267 |
1063 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001069590 rs2067102829 |
1064 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067102897 RCV001071120 |
1065 | T>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290856 rs2067102964 |
1066 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206170 rs2067102998 |
1066 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398988336 rs1555614652 RCV000632462 |
1066 | R>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398988330 RCV000519919 rs1555614652 RCV001056560 |
1066 | R>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001202043 rs864622469 |
1066 | R>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614652 RCV000525490 CA398988333 RCV002413459 |
1066 | R>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746785904 CA8486124 RCV002316591 RCV001591330 |
1067 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1597718721 CA398988518 RCV000989794 |
1067 | D>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398988549 RCV000989795 rs1258842007 RCV000798329 CA398988552 |
1068 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA191414 rs786202023 RCV000164621 |
1070 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001036448 rs2067122084 |
1070 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814684 rs1597718735 |
1071 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290935 rs2067122183 |
1071 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000530456 rs1555614825 |
1072 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044152 rs2067122345 |
1072 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398988628 rs1597718741 RCV000817457 |
1072 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567850647 RCV003163083 RCV002409342 RCV000680820 CA398988634 CA398988637 |
1072 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317303 rs1555614827 CA398988645 |
1073 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316214 CA219502 RCV000542925 rs199474740 VAR_032470 RCV000059182 |
1073 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs781567020 RCV001220160 |
1074 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597718763 CA398988681 RCV000823823 |
1075 | A>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597718765 RCV002409343 |
1077 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067122696 RCV001229868 |
1078 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398988757 RCV000498691 rs1555614833 RCV001865561 |
1080 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000531698 CA398988755 rs1555614832 |
1080 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8486127 RCV000556844 RCV002314929 RCV001821506 rs769941435 |
1081 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555614834 RCV002416292 CA398988766 |
1081 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632411 rs1555614834 CA398988764 |
1081 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060170 rs2067122982 |
1082 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632448 rs1555614839 CA398988782 |
1082 | G>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067123009 RCV001339440 |
1082 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801306 rs1597718783 |
1082 | G>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002511021 RCV001040677 rs1555614848 |
1084 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1164081667 CA398988801 RCV000660030 |
1084 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002448940 COSM1710098 COSM1710097 CA398988798 rs1555614848 RCV000632451 |
1084 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA398988796 rs1555614848 RCV000501301 |
1084 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614849 CA398988804 RCV000622984 RCV001811121 |
1085 | L>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs145323424 RCV002322121 RCV001233320 |
1085 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614845 RCV000465279 |
1086 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002480940 rs2067123355 RCV001290836 |
1086 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038828 rs2067123493 |
1088 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222104 rs2067123721 |
1091 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311248 CA398988848 rs1131691124 |
1091 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809672 CA398988853 rs1597718838 |
1092 | G>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002434396 CA398988851 rs1457169236 RCV001860948 |
1092 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002442462 CA398988850 rs1457169236 RCV000695243 |
1092 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2067123964 RCV001044183 |
1093 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213597 rs2067124037 |
1093 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398988856 RCV000537710 rs1555614858 |
1093 | V>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000198607 CA338036 rs863224659 |
1096 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315833 CA398988885 rs1555614865 |
1097 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555614862 RCV000660031 |
1099 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224339 rs2067124341 |
1100 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218910 rs2067124341 |
1100 | S>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000545662 rs1555614866 RCV000599527 |
1101 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038136 rs2067124493 |
1102 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597718879 CA398988932 RCV002434401 |
1103 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290859 rs140957113 |
1104 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614867 RCV000660032 CA398988942 |
1105 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659289 CA398988965 RCV000660033 |
1106 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000712405 RCV001062035 CA398988963 rs1567850987 COSM131202 |
1106 | Y>C | liver Neurofibromatosis, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555614918 RCV000660034 |
1109 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214921 rs2067134264 |
1109 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067134394 RCV001045137 |
1110 | F>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317604 rs2067134298 |
1110 | F>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398988995 RCV001201699 rs1256152851 RCV002317205 |
1110 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001246641 rs2067134298 |
1110 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067134298 RCV001225090 |
1110 | F>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614920 CA398989000 RCV000632317 |
1111 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002322092 rs1060500262 RCV001224768 RCV003168735 CA16615205 RCV000462981 |
1112 | N>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV001307423 rs2067134539 |
1113 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067134697 RCV001290779 |
1116 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860969 RCV002445165 CA398989036 rs1597719439 |
1116 | D>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632360 CA398989035 rs1555614932 |
1116 | D>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660762 CA10580281 RCV000222751 |
1117 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002321854 RCV001753686 rs201645318 CA10583491 RCV000234055 |
1118 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000660035 rs1555614934 |
1120 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001821507 RCV000764106 RCV002311842 CA8486157 RCV000551702 rs751571517 |
1120 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000460298 rs200594167 CA16615192 |
1120 | V>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002315776 CA8486155 RCV001237795 rs200594167 |
1120 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001290896 rs2067135200 |
1121 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989067 rs1567851029 RCV000700759 |
1121 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572962 CA398989068 rs757222815 |
1121 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000216796 RCV003165559 RCV000470964 CA8486158 rs757222815 |
1121 | E>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398989065 rs1567851029 RCV002445166 |
1121 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347624 rs2067135101 |
1121 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989077 RCV002445167 rs1597719461 |
1122 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398989082 RCV001213107 rs1555614940 RCV002317168 |
1123 | E>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823588 CA398989084 RCV002453902 rs1410465727 |
1123 | E>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000806036 rs1597719471 |
1124 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858205 CA398989091 RCV002316672 rs374472758 |
1124 | S>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs374472758 RCV001574886 RCV000527707 RCV001020116 RCV002448634 CA8486159 RCV000764107 |
1124 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000535878 rs902739109 RCV000563538 RCV002314930 RCV002286748 CA289337975 RCV002483371 RCV001821508 |
1125 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000526792 rs1555614947 COSM1382083 CA398989100 COSM1382084 RCV000520118 |
1126 | Q>* | Neurofibromatosis, type 1 large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1597719498 RCV002445168 |
1127 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000786962 rs1597719490 |
1128 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989796 rs1597719504 |
1128 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047593 rs2067135666 |
1128 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989117 RCV002526914 RCV002315861 rs1060500325 |
1128 | G>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464563 CA16615628 RCV002446772 rs1060500325 RCV003159120 |
1128 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567851054 RCV000697836 |
1129 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213041 rs2067135965 |
1131 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067135932 RCV001046826 RCV003160357 |
1131 | K>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781725 CA165340 RCV003162575 RCV001753513 RCV000474714 RCV000129912 |
1132 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8486162 RCV002221537 rs778920556 RCV000468469 RCV002318500 RCV002284200 |
1132 | R>H | Neurofibromatosis, type 1 Myeloproliferative neoplasm, unclassifiable Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587782701 RCV000132143 CA169345 RCV001216431 |
1134 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398989149 rs1597719532 RCV000805767 |
1134 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632388 rs1555614952 CA398989161 |
1135 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811784 rs1597719535 |
1136 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002450667 CA10583492 RCV000228732 rs868407539 |
1136 | R>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1610051 RCV002259002 COSM1610050 RCV001756180 RCV000691201 CA289338004 rs868407539 |
1136 | R>Q | liver Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA398989163 RCV001043177 COSM96330 COSM3958166 rs1341314304 |
1136 | R>W | lung Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1555614960 RCV000552006 CA398989190 |
1139 | A>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA161040 RCV000121633 rs587778551 RCV002453442 |
1139 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001799676 CA398989233 RCV002456062 RCV000553517 rs1555614965 |
1143 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000540881 rs1555614963 RCV002330834 CA398989230 |
1143 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002561011 RCV001193428 rs2067136971 |
1144 | C>* | Neurofibromatosis, type 1 RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327410 rs2067136902 RCV002456461 |
1144 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632516 rs1555614966 |
1145 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497239 rs1135402842 |
1145 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067137147 RCV001227859 RCV001776154 |
1146 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703161 rs201047812 CA398989268 |
1146 | V>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000129967 rs201047812 RCV001125918 CA165440 RCV000200527 RCV001125919 RCV000612512 RCV001125917 RCV001594850 |
1146 | V>I | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201047812 RCV001349887 |
1146 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199474779 RCV000059183 VAR_021752 CA219506 |
1147 | L>P | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001243464 rs2067137324 |
1148 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350306 rs2067137289 |
1148 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16620364 RCV000485269 RCV001592861 RCV000632422 RCV000762987 CA398989307 rs1064794277 RCV001811032 RCV000685898 CA398989305 RCV000542239 |
1149 | M>I | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001040006 rs2067137517 |
1149 | M>IA | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989303 rs1131691121 RCV002311245 |
1149 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691121 RCV000818100 CA398989302 |
1149 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1187097568 RCV002060718 RCV000632403 RCV002458006 CA398989297 RCV001591409 |
1149 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.62e-05 impact. Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000798481 rs1597719619 |
1150 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989316 rs1555614972 RCV000497750 RCV001044017 |
1150 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044396 RCV001570393 rs1555614972 |
1150 | S>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067137547 RCV001253552 |
1150 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172243 rs2067137617 |
1151 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567851125 RCV000702558 CA398989319 |
1151 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001316763 rs2067137679 |
1151 | N>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000168453 rs1321848637 RCV001800492 RCV000712406 RCV000165479 |
1153 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1430634618 RCV001561245 RCV000813508 |
1153 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597719643 RCV000809192 |
1154 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067137878 RCV001048384 |
1154 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371544233 RCV000467969 RCV000493463 CA16615630 |
1154 | N>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2067137994 RCV001321400 |
1154 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371544233 RCV000166289 CA195477 RCV000463935 |
1154 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398989372 rs1597719654 RCV000818467 |
1155 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398989385 RCV000632407 rs147955381 |
1156 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_021753 RCV000793336 RCV001001314 rs199474764 CA219510 RCV000059184 |
1156 | N>S | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
rs199474764 RCV001054002 |
1156 | N>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001550221 RCV002317218 rs375845704 RCV001058917 CA289338058 |
1157 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs2067138274 RCV001307672 |
1159 | S>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202815 COSM1520773 CA194290 COSM1520772 RCV000165830 |
1160 | G>C | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001068391 rs2067138342 |
1160 | G>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555614977 RCV000554824 |
1162 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345630 RCV002456496 CA8486167 rs773968270 |
1162 | M>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000221404 CA8486168 RCV001762502 RCV003165576 RCV000467898 rs200732832 |
1162 | M>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003153478 RCV001357245 RCV003150978 rs773968270 RCV000206616 RCV002336555 CA350628 RCV000492521 |
1162 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750303863 RCV000543603 RCV002494595 CA8486169 RCV000222862 |
1164 | S>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA334585 rs786204211 RCV000168309 |
1165 | I>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002451535 RCV001228353 rs786204211 |
1165 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597719704 RCV001346294 |
1166 | G>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA219514 VAR_010993 RCV000059185 rs199474787 |
1166 | G>D | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1597719704 CA398989534 RCV000806418 RCV002453807 |
1166 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002453564 rs786204253 RCV000168456 CA334775 |
1167 | L>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632479 CA398989624 rs1555615008 |
1167 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853883 CA10583493 RCV000492228 RCV000230446 |
1168 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208434 rs2067141195 |
1169 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316627 rs1555615014 CA398989654 RCV000792441 |
1169 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348692 rs2067141225 |
1169 | Y>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225150 rs1555615014 |
1169 | Y>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319261 rs1597719889 CA398989677 RCV001379173 |
1170 | H>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000219024 rs876660580 |
1172 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067141430 RCV001208481 |
1172 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003105964 RCV002509447 CA398989726 rs1555615017 RCV002317160 |
1172 | D>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000477359 rs1060500375 CA16615216 RCV002451075 |
1173 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1679699 CA289338189 rs868450405 RCV001840797 RCV001257535 RCV001334342 COSM1679698 |
1174 | Q>* | ovary Neurofibromatosis, type 1 Rhabdomyosarcoma haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1135402843 CA398989765 RCV000497165 |
1174 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067141601 RCV001229413 |
1175 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989793 rs1555615024 RCV002315815 |
1175 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660037 rs1131691092 RCV000492575 RCV000599249 |
1176 | R>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212119 rs2067141694 |
1176 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398989819 RCV000571238 RCV001235233 rs1227027709 RCV002316610 |
1176 | R>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1597719920 CA398989846 RCV000820391 |
1177 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555615025 RCV000632406 CA398989862 |
1178 | T>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067141791 RCV001060390 |
1178 | T>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203658 CA398989909 RCV001860990 RCV002319262 |
1180 | M>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067141977 RCV001300644 |
1180 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515169 rs786203658 RCV000798602 RCV000167062 CA197403 RCV003162716 |
1180 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290868 rs2067142076 RCV001760328 |
1182 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555615027 CA398989966 RCV000544954 RCV001571922 COSM48598 RCV003159753 RCV001535486 |
1182 | V>F | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001340133 rs1555615027 |
1182 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1166735 COSM1166736 CA398989986 rs1555615028 RCV000632290 |
1183 | L>P | Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001052414 rs2067142260 |
1187 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290881 rs2067142341 |
1188 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290920 rs2067142295 |
1188 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319263 CA398990055 rs758419553 |
1188 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002318965 CA10583494 RCV000231967 rs878853884 |
1189 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853884 RCV002319264 CA398990068 |
1189 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000508495 VAR_071670 CA8486195 rs752039618 |
1189 | Q>R | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1060500271 RCV000463605 |
1190 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555615032 RCV000535930 CA398990092 |
1190 | G>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804580 RCV002453788 RCV001558604 CA398990088 rs1597719982 |
1190 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317189 CA398990102 rs1555615033 |
1191 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000059187 CA219522 VAR_021754 rs199474780 RCV001381678 |
1193 | F>C | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001172244 rs2067142728 |
1193 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398990143 rs199474780 RCV000497226 |
1193 | F>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212361 rs2067142764 |
1196 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002341694 RCV001751663 rs1555615039 RCV001339121 |
1196 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316215 rs199474741 CA219526 RCV000059188 VAR_032471 |
1196 | L>R | Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000660038 rs1555615039 CA398990190 RCV003163040 |
1196 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319027 CA8486196 RCV000548582 rs370820478 |
1197 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs370820478 CA336812 RCV000196926 |
1197 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1135402844 RCV000497081 |
1198 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811145 RCV001759566 CA398990237 rs1453504440 |
1199 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002458297 RCV001557292 rs1555615047 RCV000703473 CA398990242 |
1199 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990239 RCV000660039 rs1555615047 |
1199 | T>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990248 RCV000809082 rs1597720021 |
1200 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302491 rs1597720021 |
1200 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001381303 rs1597720036 RCV002319266 |
1202 | A>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146641724 RCV002453461 RCV000764108 CA166289 RCV000130378 RCV000206873 RCV000680625 |
1202 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA398990283 RCV000556571 rs1555615051 |
1203 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632346 RCV002318949 VAR_021755 CA219530 RCV000059189 rs199474732 |
1204 | R>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA16608393 RCV000425910 RCV002525376 rs1057521848 |
1204 | R>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319267 RCV001766851 RCV001046846 CA398990298 rs1057521848 |
1204 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318950 CA219534 RCV000696613 RCV000059190 COSM94819 rs199474732 VAR_010994 COSM1710099 |
1204 | R>W | ovary Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. skin NF1 [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1597720068 CA398990310 RCV000819881 |
1205 | F>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597720070 CA398990323 RCV002319269 |
1206 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500374 RCV000460448 CA16615224 |
1208 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632456 RCV001771852 rs1060500374 CA398990347 |
1208 | L>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990354 RCV002256492 RCV000549931 CA398990355 RCV000709417 rs1458579232 RCV001759428 RCV002456065 |
1209 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398990382 rs1135402845 RCV000497169 |
1211 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319271 rs1597720116 CA398990385 |
1212 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990413 RCV000691988 rs1567851416 |
1214 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632513 CA398990428 rs1555615071 |
1215 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990426 rs1555615071 RCV000660040 |
1215 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001562547 RCV002451072 RCV000467306 rs1060500276 |
1215 | M>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067143915 RCV001344121 |
1215 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002343592 rs1567851424 CA398990439 RCV000722330 RCV001294488 |
1216 | G>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497024 rs1135402846 CA398990468 |
1217 | D>E | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10580289 RCV000218452 RCV000689832 rs876659541 |
1218 | Q>R | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs878853885 RCV001054275 |
1219 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290862 rs2067144197 |
1219 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000225802 CA10583495 rs878853885 |
1219 | G>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660041 rs1555615077 |
1219 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567851445 RCV000694813 |
1220 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067144350 RCV001230658 |
1220 | E>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398990502 rs1597720155 RCV000799467 |
1220 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212972 rs2067144319 |
1220 | E>V* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398990524 RCV002319272 rs1597720167 |
1221 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597720167 RCV002272395 RCV001046150 |
1221 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757564 rs867391752 RCV000497113 |
1222 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319060 rs1555615088 RCV000632432 CA398990536 |
1222 | P>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398990552 rs1567851470 RCV002458327 RCV000707558 COSM94820 |
1223 | I>V | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002319274 rs1060500340 CA398990571 RCV002549526 |
1224 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615635 RCV000474603 RCV003153578 RCV002318994 rs1060500340 |
1224 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770837892 RCV000685603 CA8486203 RCV001775953 RCV002458196 |
1225 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002458401 rs876660431 RCV000781662 RCV001212024 CA398990610 |
1227 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002318991 rs1060500315 RCV000470684 CA16615230 |
1228 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555615103 RCV000660042 |
1229 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555615102 CA398990641 RCV000632441 |
1229 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473108 RCV000614422 CA191008 RCV000164457 rs140523180 |
1229 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002458007 CA398990644 RCV000632477 rs1555615102 |
1229 | N>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA169771 RCV000132394 rs587782820 |
1230 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402848 RCV000497175 |
1231 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597720248 RCV002319275 CA398990678 |
1231 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567851532 RCV000696628 |
1232 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002350555 RCV001307049 rs2067145287 |
1232 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002483534 RCV001528969 rs1482085668 CA398990692 RCV002317302 RCV000687185 |
1232 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001206404 rs2067145365 |
1233 | C>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555615109 RCV000811154 CA398990746 RCV000627242 |
1235 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000632353 rs1252674239 CA398990770 |
1236 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2067145586 RCV002292617 RCV002348724 RCV001216938 |
1236 | W>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000522650 RCV002358412 RCV002279317 CA398990762 rs1555615111 |
1236 | W>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580291 RCV000214709 rs876659917 RCV001373563 |
1237 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000469700 rs1060500346 CA16615636 RCV001009593 |
1238 | E>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA398992300 RCV000807629 rs1597722390 |
1239 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067185676 RCV003166881 RCV001322723 |
1240 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1710100 CA165261 rs137854562 RCV000129869 COSM24441 RCV000000390 RCV000578991 |
1241 | R>* | Neurofibromatosis, type 1 adrenal_gland Variant assessed as Somatic; impact. skin soft_tissue Inborn genetic diseases [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000818019 CA398992322 rs137854562 |
1241 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000688671 CA398992325 rs543387071 |
1241 | R>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000204384 RCV000166937 rs543387071 RCV000680821 CA197077 |
1241 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2067185801 RCV001215655 |
1242 | V>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680822 CA251473 VAR_032472 rs137854564 RCV000000402 |
1243 | L>P | Neurofibromatosis, type 1 NF1; with neurofibromatous neuropathy [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000822168 rs1597722429 |
1245 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497029 rs1135402849 |
1245 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561420 CA398992374 rs786203616 |
1245 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203616 RCV000167006 CA197252 |
1245 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319277 RCV001776083 rs1363534157 CA398992381 |
1245 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001290939 rs2067186293 |
1246 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398992388 RCV000695982 rs1567852501 |
1246 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555615445 RCV001384192 RCV000519466 |
1247 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319010 RCV000696868 RCV000492776 rs1064794276 RCV000482277 |
1247 | F>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067186495 RCV001056474 |
1248 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199474765 RCV000695846 CA398992455 |
1250 | R>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA219538 VAR_021756 RCV000059191 rs199474765 |
1250 | R>P | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA10580292 RCV000222757 RCV001778813 rs199474765 RCV000806752 |
1250 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM436322 CA398992448 RCV000541317 rs1452005208 RCV002311843 COSM436323 RCV002274058 |
1250 | R>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1567852526 RCV001222384 |
1251 | H>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398992472 rs1597722470 RCV000805977 |
1251 | H>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398992469 RCV000691823 rs1567852526 |
1251 | H>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067186801 RCV001043547 |
1252 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067186931 RCV001299802 |
1253 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067186931 RCV001227055 |
1253 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318428 rs2067186968 |
1254 | Y>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597722477 RCV000803423 |
1254 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000522070 RCV000459390 rs1060500308 RCV002348262 CA16615194 |
1255 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230058 RCV001868299 CA398992520 rs766896025 RCV000679385 |
1255 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000563271 CA398992514 rs1555615453 RCV000553953 |
1255 | Q>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660044 rs1555615457 CA398992528 |
1256 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM24450 rs1555615458 COSM1382100 CA398992543 COSM1382101 RCV000632438 |
1258 | W>* | Neurofibromatosis, type 1 large_intestine soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA398992551 rs1597722516 RCV002319281 |
1258 | W>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811150 RCV001726336 CA398992539 COSM1382099 COSM1382098 rs1597722508 |
1258 | W>R | Neurofibromatosis, type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001267838 rs2067187424 |
1260 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218546 rs2067187364 |
1260 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002317244 rs1555615462 |
1260 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002497071 CA398992572 RCV002316500 rs1555615463 RCV000557541 |
1260 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1264981144 RCV002476108 RCV000547272 RCV002314931 CA398992568 |
1260 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000000397 rs1567852567 |
1262 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067187603 RCV001320403 |
1262 | S>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660045 rs1555615467 |
1263 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555615469 RCV000660046 |
1264 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001386404 rs863224660 RCV000507234 CA398992616 |
1264 | E>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA289340068 RCV001206354 rs200603400 |
1264 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
CA336871 COSM219778 RCV000196980 rs863224660 RCV000492615 |
1264 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2067187885 RCV001234881 |
1265 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580294 rs876660667 RCV000214258 |
1266 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067188136 RCV001212848 |
1268 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067188136 RCV001211536 |
1268 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319283 rs1597722567 CA398992681 RCV001308430 |
1270 | S>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036063 RCV003141943 rs2067188114 |
1271 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580297 RCV000218658 RCV000793626 rs876658565 CA398992699 RCV002518270 |
1271 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398992692 rs746583007 RCV000632307 |
1271 | M>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001582751 CA10580296 RCV000217912 RCV000468737 rs876659801 |
1271 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002316501 CA8486234 RCV000529172 RCV001755805 rs746583007 RCV000764109 |
1271 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002276662 rs2067188361 RCV001213438 RCV001266972 |
1272 | Q>* | Neurofibromatosis, type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791961 rs1597722580 CA398992711 |
1272 | Q>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597722580 RCV001314862 |
1272 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067188459 RCV001290900 |
1273 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238427 rs2067188491 |
1273 | T>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067188550 RCV001233484 |
1274 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001545489 RCV000546341 rs1555615472 |
1275 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050019 RCV000167004 rs786203614 |
1275 | F>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067188667 RCV001225439 |
1276 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8486236 RCV000238903 RCV000492784 COSM1177899 RCV001257529 COSM30762 RCV000227284 rs199474742 |
1276 | R>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Rhabdomyosarcoma endometrium soft_tissue haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_032473 RCV002354254 RCV000507203 RCV000059192 RCV000233439 rs199474742 CA219542 |
1276 | R>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM1563917 RCV000856625 COSM1563918 CA398992755 rs137854556 |
1276 | R>L | Neurofibromatosis, type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000000381 RCV002267796 RCV002354143 VAR_010995 CA251463 rs137854556 |
1276 | R>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1; complete loss of GAP activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA219546 RCV002318951 RCV000824729 RCV000762988 COSM1318520 RCV000213660 RCV000059193 RCV002470752 rs137854556 COSM24497 |
1276 | R>Q | Neurofibromatosis-Noonan syndrome Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA398992771 rs1555615480 RCV000632377 |
1277 | G>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001575189 CA398992784 rs1135402850 RCV000497120 |
1278 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001296676 rs2067188951 |
1278 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1306874240 RCV001214912 |
1278 | N>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1170788683 RCV000632284 CA398992791 |
1279 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000468429 rs1060500341 CA16615496 RCV000679386 RCV002318510 |
1281 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1328592308 CA398992826 RCV002319284 |
1282 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001035794 rs2067189266 |
1282 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820324 rs1597722644 CA398992845 |
1283 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067189436 RCV001224267 |
1284 | I>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398992857 RCV000811706 rs1597722650 |
1284 | I>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067189497 RCV001047655 |
1285 | M>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205760 rs2067189465 |
1285 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500306 RCV000474578 CA16615237 |
1286 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002356951 RCV001223947 CA398992885 rs1434858786 |
1287 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001340785 rs1434858786 |
1287 | F>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555615495 CA398992909 RCV000660047 |
1288 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809503 RCV002487748 rs1597722661 CA398992907 |
1288 | C>Y | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000426217 CA197491 rs138186428 RCV000167100 |
1289 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2067189853 RCV001052428 |
1290 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067189705 RCV001214198 |
1290 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218853 rs876658521 CA10580298 |
1290 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555615497 RCV000547778 CA398992935 |
1290 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067193335 RCV001208193 |
1292 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067193414 RCV001290922 |
1292 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000471733 COSM1630121 RCV002284392 RCV002311767 rs1060500243 CA16615238 COSM1630120 RCV000573306 |
1292 | Y>C | liver Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs2067193448 RCV002357156 RCV001323325 |
1293 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347409 rs2067193484 |
1294 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853889 CA10583498 RCV000230119 |
1294 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051806 rs2067193558 |
1295 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515307 RCV001122261 RCV001122259 RCV000205468 RCV002362857 rs143836226 RCV000165261 RCV001122260 RCV000680330 RCV000428670 CA192901 |
1295 | T>A | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398993047 RCV002319290 rs1597722927 RCV001367688 |
1297 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065757 rs2067193761 RCV002365760 |
1298 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203509 CA196851 RCV000166843 |
1298 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232703 RCV002365178 rs878853890 |
1299 | K>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067193845 RCV001316664 |
1299 | K>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067193878 RCV001070395 |
1301 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166831 rs786203500 |
1302 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs549058591 CA190141 RCV001125038 RCV000542427 RCV001318821 RCV001125040 RCV000681119 RCV001125039 RCV000164143 |
1302 | D>E | Neurofibromatosis-Noonan syndrome Neurofibromatosis-noonan syndrome (nfns) Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar, Ensembl] | Yes |
ClinVar dbSNP ClinGen TOPMed gnomAD |
|
rs2067194038 RCV001208986 |
1302 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398993098 RCV001344063 RCV002319291 rs1597722958 |
1302 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398993119 RCV002319292 rs1597722962 |
1303 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555615549 RCV000660048 |
1304 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000412761 rs761512189 RCV001290937 CA16043044 |
1304 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001570967 CA8486268 RCV000703101 rs761512189 RCV002319094 |
1304 | L>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001009594 RCV002318998 RCV000489457 COSM24478 CA16615197 COSM1382104 RCV000457194 rs376576925 |
1306 | R>* | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome soft_tissue haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA dbSNP gnomAD |
|
rs1306237220 COSM1382107 CA398993147 RCV000632517 COSM1382108 |
1306 | R>Q | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs876660805 RCV000632338 RCV000219337 CA10580300 |
1307 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066180 rs2067194362 |
1307 | I>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067194538 RCV001069574 |
1309 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398993174 RCV000692652 rs1567852796 RCV002369865 |
1309 | I>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319293 CA398993171 rs1350012235 RCV001861024 |
1309 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001039026 RCV002372762 rs1555615554 |
1310 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858126 RCV002315744 rs1555615554 CA398993185 |
1310 | T>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132533 CA170026 RCV003162596 rs587782894 RCV000230492 |
1311 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782894 CA398993194 RCV002319294 |
1311 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580301 RCV000213654 rs876658235 |
1314 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002464361 RCV001053735 rs2067194816 RCV002256665 RCV002374921 |
1314 | W>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700878 RCV002369926 rs576687606 CA8486270 |
1314 | W>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002375146 RCV001207822 rs2067194846 |
1315 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036730 rs751023085 |
1316 | H>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862189 CA398993252 RCV002319296 rs751023085 |
1316 | H>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002319297 RCV001057410 rs1418340346 CA398993256 |
1316 | H>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002319062 RCV002477387 rs751023085 RCV000632489 RCV000681105 CA289340347 |
1316 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA398993247 RCV001341391 rs1218464470 |
1316 | H>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555615559 RCV002317186 |
1317 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214041 rs1555615560 RCV002356916 |
1317 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555615560 CA398993261 RCV000632471 |
1317 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA166015 RCV000130238 rs587781900 |
1318 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002295303 RCV002316604 CA398993298 rs1555615562 |
1320 | E>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398993303 rs1555615564 RCV002317213 |
1320 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398993297 RCV000690399 rs1273280025 |
1320 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16615637 rs1060500337 RCV000465231 RCV002318993 |
1321 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319299 rs1060500337 CA398993313 |
1321 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067195581 RCV001290882 |
1322 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234106 rs2067195486 |
1322 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792273 CA398993319 rs1597723042 |
1322 | D>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398993318 RCV000797698 rs1597723042 |
1322 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555615565 CA398993323 RCV000575653 RCV001343183 |
1322 | D>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067195656 RCV001068808 |
1323 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067195656 RCV001215761 |
1323 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs189522993 RCV001797655 RCV001753569 RCV000167072 RCV000206332 CA197424 |
1324 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001304110 rs2067195762 |
1324 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039844 rs863224447 |
1325 | R>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000624674 rs863224447 CA398993356 |
1325 | R>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597734999 RCV002285438 RCV001048377 |
1325 | R>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515460 rs863224447 RCV000199605 CA338737 RCV002318958 |
1325 | R>T | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067447633 RCV001221433 |
1326 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660506 CA10580303 RCV000214183 RCV000686386 |
1326 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002478790 RCV000556356 CA8486312 RCV000213619 rs765957571 |
1326 | L>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2067447715 RCV002377497 RCV001352084 |
1327 | E>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467614 rs1060500319 CA16615504 |
1329 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000681017 rs1256727206 RCV000709418 RCV002319078 CA398994834 |
1330 | E>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1483311407 RCV002377363 RCV000632520 CA398994831 |
1330 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1483311407 CA398994832 RCV001306795 |
1330 | E>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002377361 CA398994840 rs1411796317 RCV000632299 |
1331 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2067448156 RCV001248633 |
1331 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703563 rs1567858266 CA398994842 |
1331 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000034583 RCV000525685 rs200618072 CA215740 RCV002354183 |
1333 | E>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402851 RCV000497209 |
1334 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685258 rs878853892 CA398994861 |
1334 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000569305 RCV002311334 rs878853892 CA10583500 RCV000681004 RCV000226925 |
1334 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067448379 RCV001290845 |
1335 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067448469 RCV001338722 |
1335 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555617304 CA398994871 RCV000573611 |
1335 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555617304 RCV001030574 |
1335 | N>T | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067448530 RCV001351332 |
1336 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398994878 rs1597735043 RCV002319304 |
1336 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002352102 CA398994884 rs1060500379 RCV000681002 |
1337 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002056708 RCV002481368 RCV002318999 CA16615242 RCV000456397 rs1060500379 |
1337 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000198849 RCV000130170 rs146306756 CA165863 |
1337 | R>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs864622202 CA349017 RCV000204829 |
1338 | N>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398994894 RCV002319305 rs876660466 |
1339 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567858306 RCV000707236 CA398994896 RCV001775981 |
1339 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001092504 rs1567858306 RCV001862714 |
1339 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580304 RCV000219752 rs876660466 |
1339 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290810 rs2067448975 |
1340 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224834 RCV000198153 |
1340 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000222211 CA10580305 rs876658268 RCV000681284 RCV002518248 |
1340 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567858318 RCV000699916 |
1341 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001810828 rs137854559 CA325503 COSM24442 RCV000000385 |
1341 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. soft_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1382112 COSM1382111 RCV002317214 RCV001295377 CA398994907 rs1555617325 |
1341 | Q>L | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2067449278 TCGA novel RCV001065729 |
1342 | M>I | Variant assessed as Somatic; impact. Neurofibromatosis, type 1 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar dbSNP |
|
RCV002550870 CA398994912 RCV002319307 rs1597735093 |
1342 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555617328 CA398994927 RCV000632337 |
1344 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067449346 RCV001042298 |
1345 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207966 rs2067449447 |
1346 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067449493 RCV001290783 |
1347 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702911 rs1567858344 |
1348 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067449536 RCV001050796 |
1348 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201844 RCV001242939 |
1348 | H>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319308 rs1315375188 CA398994962 |
1348 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000538253 RCV000164337 rs786201844 CA190688 |
1348 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1229215269 RCV001047719 CA398994967 RCV002316595 |
1349 | A>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001527349 RCV001342563 RCV002316632 rs1555617332 CA398994964 |
1349 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319309 RCV001347632 rs1229215269 CA398994969 |
1349 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2067449978 RCV001220074 |
1351 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398994979 RCV000795464 rs1233135542 |
1351 | I>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398994986 RCV000555402 RCV002314932 rs1337343400 |
1352 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002494600 RCV000531590 RCV001589161 RCV000220527 CA10580306 rs876660908 |
1352 | S>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001218058 RCV002316599 CA398994996 RCV001755934 rs1555617346 |
1353 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321405 rs1555617348 |
1354 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398995000 rs1555617348 RCV000632436 |
1354 | S>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000815662 rs1597735166 |
1355 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398995007 rs1131691087 RCV000492374 |
1355 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398995008 rs1131691087 RCV002319311 |
1355 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001057151 rs2067450400 |
1356 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051632 rs2067450430 |
1356 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597735186 RCV000819060 |
1356 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002507065 rs1555617354 RCV000632363 |
1357 | F>missing | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398995017 RCV001021798 RCV001221416 rs1207255352 RCV002319312 |
1357 | F>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398995018 RCV000822563 RCV000781667 RCV002325486 rs1207255352 |
1357 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002317304 rs1555617359 CA398995026 |
1358 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067450726 RCV001234849 |
1358 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000996520 RCV002323927 CA398995027 rs1555617359 RCV000544193 |
1358 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497034 RCV001543563 rs1135402852 RCV002323860 |
1359 | P>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745931495 RCV002319314 CA8486321 RCV002481826 |
1359 | P>T | Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000574174 RCV001821509 rs1555617362 CA658656602 RCV000552219 |
1359 | P>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660049 rs1555617364 |
1360 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402852 RCV001047298 RCV001310355 |
1360 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000756425 RCV001386874 CA398995038 rs1555617368 RCV002315793 |
1360 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854560 RCV000000372 COSM977438 RCV002504730 CA325494 RCV000483061 RCV000492495 COSM24443 |
1362 | R>* | ovary Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome endometrium soft_tissue haematopoietic_and_lymphoid_tissue Neurofibromatosis, familial spinal [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA398995052 RCV000823321 rs540108477 |
1362 | R>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV002317730 CA350067 RCV000205985 rs540108477 |
1362 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs749748720 CA8486323 RCV001035992 |
1364 | V>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000000395 rs267606608 |
1366 | H>missing | Neurofibromatosis-Noonan syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002315811 rs769042915 RCV001858130 CA8486324 |
1366 | H>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000632493 CA398995080 rs1555617377 RCV002319063 RCV000681301 |
1366 | H>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769042915 CA398995078 RCV002315756 |
1366 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002319315 CA398995092 RCV001297435 rs1597735265 |
1368 | L>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052254 rs1597735272 |
1369 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290790 rs2067451446 |
1370 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814220 rs1597735273 |
1370 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs868573462 COSM220104 RCV001241893 CA289346840 |
1370 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. soft_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1135402854 CA398995108 RCV000497214 |
1370 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002319012 rs1135402853 CA398995105 RCV000497125 |
1370 | Q>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA194963 RCV000166090 rs786202990 |
1373 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA191172 RCV002053967 RCV000424683 RCV000164524 rs764123241 |
1374 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs876658191 CA10580307 RCV000220505 |
1380 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575794 rs1259436033 CA398996004 |
1385 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002319318 rs1597744525 CA398997481 |
1392 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319317 CA398997478 rs1597744525 RCV001819733 |
1392 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067620152 RCV001207864 |
1393 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618494 CA398997531 RCV003163041 RCV000660050 |
1395 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA336092 RCV000570910 RCV000195985 rs775206746 RCV002317725 |
1395 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001290928 rs2067620305 |
1396 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002476239 RCV002317224 RCV001345718 CA398997547 rs1555618495 |
1396 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204501 CA348726 rs368685980 RCV002485335 RCV002317729 |
1396 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398997567 RCV001858125 rs1555618498 RCV002315739 |
1397 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000558145 RCV002311844 rs768223279 CA8486364 |
1397 | F>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA348120 RCV000203828 rs864622299 |
1398 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067620512 RCV001290873 |
1399 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691072 RCV000507218 RCV000492460 RCV002496890 CA398997588 RCV001290878 |
1399 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002331122 RCV001309531 RCV000632469 RCV002327689 CA398997598 rs1355988609 |
1399 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV000764110 RCV001775802 RCV002329017 RCV000463322 rs1060500310 CA16615204 |
1401 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA398997627 RCV000812557 rs1060500310 |
1401 | S>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16615510 RCV000472226 rs1060500249 |
1401 | S>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615508 RCV000464358 rs1060500249 |
1401 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622406 RCV002319323 CA398997663 |
1402 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002327629 rs2067621019 RCV001290795 |
1403 | G>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319112 RCV000809352 CA398997672 rs138227618 |
1403 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001126022 RCV002498641 CA166199 RCV001126023 rs138227618 RCV000197840 RCV002326844 RCV001126024 RCV000680999 RCV000130328 RCV001824642 |
1403 | G>S | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001047144 rs2067621081 |
1404 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464262 rs1060500257 CA16615210 |
1404 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1186560791 CA398997716 RCV001344882 |
1405 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1256219174 CA398997711 RCV001060487 |
1405 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2067621208 RCV001043943 |
1406 | G>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618505 RCV000546934 CA398997738 |
1406 | G>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001818308 RCV000129962 RCV000480614 CA165427 RCV002483261 rs587781755 RCV000233760 |
1407 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2067621332 RCV001202612 |
1407 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302988 rs2067621366 |
1407 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA190890 CA398997799 RCV002316667 rs786201895 RCV000164414 RCV000687117 RCV001755936 RCV001067950 |
1409 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230914 rs1555618508 |
1409 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311845 RCV000559490 CA398997792 rs1555618508 |
1409 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000458454 rs1060500369 CA16615247 RCV002329018 |
1409 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555618511 RCV000535673 |
1410 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615638 RCV000470425 rs750213850 |
1410 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000059194 VAR_065236 rs199474789 RCV000023983 CA129599 RCV000195735 |
1411 | L>F | Neurofibromatosis-Noonan syndrome Neurofibromatosis-noonan syndrome (nfns) Neurofibromatosis, type 1 NFNS [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001228388 rs2067621676 |
1411 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199474789 RCV002331294 CA398997826 RCV000660051 |
1411 | L>V | Neurofibromatosis-noonan syndrome (nfns) Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548305 rs1555618515 CA398997834 RCV001573342 |
1412 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_010996 CA398997843 rs137854554 RCV000792558 RCV000000376 COSM35487 CA251459 RCV002326656 RCV001810827 |
1412 | R>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome central_nervous_system NF1; significant reduction of GAP activity [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000626643 rs1555618516 CA398997839 RCV000660052 RCV002319052 |
1412 | R>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cafe au lait spots, multiple [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067621912 RCV001043209 |
1413 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1190777334 RCV002327324 RCV001057523 |
1413 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002481827 RCV002319327 CA398997854 RCV001862200 rs1597744644 |
1413 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327570 rs1555618518 RCV001237133 |
1415 | N>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000627054 rs1555618518 CA398997868 RCV000756433 |
1415 | N>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398997878 rs760949880 RCV001211430 RCV000686773 |
1415 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV002332710 CA398997875 RCV000821862 rs1406169018 |
1415 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002317191 rs1555618521 CA398997890 |
1416 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302356 rs1555618521 |
1416 | P>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA166146 RCV001321360 rs587781941 RCV000130307 |
1417 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1783538929 RCV001228438 |
1417 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497048 rs1135402855 |
1418 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597744672 RCV002319328 |
1418 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198159 rs1783539066 |
1418 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197535 rs369345045 RCV000471627 RCV000782208 RCV000167116 |
1418 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
CA398997914 rs1555618528 RCV000632488 |
1419 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065875 RCV002327346 rs2067622413 |
1419 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618533 CA398997921 RCV000537009 |
1420 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567861977 RCV000692060 |
1421 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572685 RCV000472778 rs753997885 CA8486368 RCV002318499 |
1421 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002315860 rs753997885 CA398997933 |
1421 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002311250 rs753997885 CA398997935 RCV001280706 |
1421 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001862201 RCV002319329 rs1347152182 CA398997932 |
1421 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002526883 rs1555618542 RCV002317312 |
1422 | Y>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618544 RCV002317171 CA398997943 |
1422 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000818236 rs17884349 CA289350569 VAR_022256 |
1422 | Y>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000218073 rs876659964 |
1423 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306180 rs2067622976 |
1423 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062005 rs2067623060 |
1424 | A>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618547 RCV000632280 CA398997976 |
1425 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070149 rs2067623178 |
1426 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570019 RCV002316605 rs1555618549 RCV001302927 CA398997987 |
1426 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230141 rs1177433867 |
1427 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758915600 RCV000989800 CA398998015 |
1429 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001269405 CA8486370 rs758915600 |
1429 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002327676 CA8486371 RCV001307210 rs778056258 |
1429 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_032474 | 1430 | K>E | NF1 [UniProt] | Yes | UniProt |
|
CA289350592 CA398998034 rs373086572 RCV000632287 |
1430 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002327589 rs2067623603 RCV001243403 |
1431 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618552 RCV000474728 |
1432 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398998050 RCV002319332 rs1597744755 |
1432 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398998046 RCV001862202 rs1597744750 RCV002319331 |
1432 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046035 rs2067623782 |
1433 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061523 RCV002327334 CA398998059 rs1310048288 |
1433 | P>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002319335 rs1597744780 CA398998066 |
1434 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660053 CA398998084 RCV001592842 rs876660428 |
1436 | E>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000698211 CA10580309 rs876660428 RCV000213115 |
1436 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA398998086 RCV002319336 rs876660428 |
1436 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567862061 RCV000698153 CA398998100 |
1437 | R>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398998098 rs1555618558 RCV000540650 |
1437 | R>W | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398998113 RCV002319337 RCV002549549 rs748901190 |
1438 | G>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555618559 RCV000632348 CA398998110 |
1438 | G>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618559 RCV001058925 CA398998111 RCV002317258 |
1438 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398998114 RCV002332425 RCV000690777 rs748901190 |
1438 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567862071 RCV000761316 CA398998119 |
1439 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317167 RCV002526834 RCV002291672 CA398998116 rs1555618562 RCV002476231 |
1439 | L>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567862071 RCV001307966 RCV002327682 |
1439 | L>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000228712 rs199474790 CA10583501 |
1440 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA219550 rs199474790 VAR_010997 RCV000059195 |
1440 | K>Q | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000059196 VAR_002658 RCV001854235 rs199474788 CA219554 |
1440 | K>R | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000804297 rs786201458 CA398998138 |
1441 | L>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1135402856 RCV000497134 |
1442 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492077 RCV002286742 CA398998156 rs1131691097 |
1442 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618566 CA398998171 RCV001540502 RCV002331121 RCV000632429 |
1443 | S>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854550 RCV001221322 |
1444 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM24576 VAR_002659 RCV000626644 RCV000489593 CA251440 RCV003137479 RCV000000364 RCV000762990 rs137854550 RCV002305424 RCV002310992 |
1444 | K>E | ovary DOORS syndrome Pheochromocytoma Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome Cafe au lait spots, multiple haematopoietic_and_lymphoid_tissue Neurofibromatosis, familial spinal NF1 and NFNS; significant reduction of intrinsic GAP activity [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA398998179 RCV000856626 rs199474781 |
1444 | K>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_021757 CA16615213 RCV000467960 COSM145671 RCV002514298 RCV002311234 COSM383181 rs199474750 RCV000059198 CA219562 |
1444 | K>N | Hereditary cancer-predisposing syndrome lung Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue NF1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP UniProt |
|
RCV003105926 CA398998175 RCV000497192 COSM24577 rs137854550 RCV002329179 |
1444 | K>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001065767 RCV000059197 VAR_021758 rs199474781 COSM1382116 CA219558 COSM1382115 |
1444 | K>R | Neurofibromatosis, type 1 large_intestine NF1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV002319340 rs1597745559 |
1445 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618637 RCV000690104 RCV000554645 CA398998674 CA398998677 RCV002332421 |
1445 | I>L | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597745565 CA398998682 RCV000813397 |
1445 | I>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618639 RCV002317242 RCV001315718 CA398998689 |
1446 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA219566 RCV000059199 VAR_008129 rs199474733 RCV001379175 |
1446 | L>P | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA398998696 RCV000497250 rs1135402857 |
1447 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000792034 RCV002332582 CA398998695 RCV002487639 rs1135402857 |
1447 | Q>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660206 COSM1382122 COSM1382123 RCV000700494 RCV002327094 COSM436327 RCV002280112 RCV000220491 CA10580310 COSM436326 |
1447 | Q>H | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002528016 COSM35758 CA398998693 RCV002316664 COSM1382119 rs1135402857 |
1447 | Q>K | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs786204157 RCV000492775 RCV000660055 CA398998698 |
1447 | Q>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059906 rs2067635955 |
1447 | Q>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204157 COSM1382120 RCV000168155 CA334363 COSM1382121 |
1447 | Q>R | Neurofibromatosis, type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000989801 rs1597745583 |
1448 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618644 CA398998713 RCV000530807 |
1448 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067636212 RCV001290864 |
1450 | A>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060635 rs2067636212 |
1450 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567862283 RCV000689691 CA398998739 |
1451 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002286749 RCV000555970 CA398998742 rs199474754 |
1451 | N>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000543420 RCV002464146 RCV000213891 rs199474754 CA10580311 |
1451 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000059201 RCV002326782 CA219574 rs199474754 VAR_032475 RCV000463192 |
1451 | N>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NFNS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000701343 RCV002332481 rs1567862291 RCV003128648 CA398998754 |
1452 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398998759 RCV002316506 RCV000532161 rs199474755 |
1453 | V>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001815254 rs199474755 RCV000214015 RCV000234155 CA8486399 RCV003165549 |
1453 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000059202 rs199474755 CA219578 RCV001317888 VAR_032476 |
1453 | V>L | Neurofibromatosis, type 1 NFNS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001295320 rs2067636896 |
1454 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398998766 rs1408832954 RCV002316602 RCV000632449 RCV002254935 |
1454 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs2067637088 RCV001290932 |
1456 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618653 RCV000660056 |
1457 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000229110 rs878853893 RCV002318966 RCV001557248 CA10583502 |
1457 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632498 RCV001222099 rs1555618658 CA398998807 |
1457 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001766524 rs878853893 CA398998798 RCV000699721 |
1457 | K>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618656 CA398998804 RCV001324279 RCV002317220 |
1457 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001862715 rs1135402858 RCV001092506 |
1458 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231680 CA10583503 rs878853894 RCV001762518 |
1458 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1135402858 RCV000497096 CA398998810 |
1458 | E>K | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000799115 rs1597745663 CA398998822 |
1459 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_032477 RCV000544772 rs267606607 RCV002326657 RCV000000394 RCV003156210 |
1459 | E>missing | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NFNS [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_032477 rs267606607 |
1459 | E>del | NFNS [UniProt] | Yes |
UniProt dbSNP |
|
RCV000632458 CA398998838 rs748990989 |
1460 | H>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001056297 rs377295676 |
1460 | H>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795138 CA8486401 rs748990989 |
1460 | H>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001785523 RCV000216267 rs377295676 RCV000462406 CA8486400 |
1460 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000989802 rs1597745689 |
1461 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402859 RCV000497151 |
1461 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398998852 rs1555618677 RCV000632293 |
1461 | M>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754639587 RCV000538029 RCV001577802 CA398998849 |
1461 | M>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398998847 RCV000557305 rs1555618675 RCV002330836 RCV003114657 |
1461 | M>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001038704 rs754639587 |
1461 | M>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001805117 CA8486402 RCV001310356 rs754639587 RCV002329180 RCV000497236 |
1461 | M>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002327345 rs1555618675 RCV001065797 |
1461 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456705 RCV000166967 rs370852681 RCV001753565 RCV002505214 CA197155 |
1462 | R>Q | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM472532 CA16615639 rs876658127 RCV002318983 RCV003128802 RCV000474000 COSM472531 |
1462 | R>W | kidney Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA398998864 rs1597745703 RCV001054952 |
1463 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305595 rs2067638875 |
1464 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202492 CA193111 RCV000764111 RCV000165332 RCV001222970 |
1465 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs878853895 RCV000226650 CA10583504 RCV003165599 |
1466 | D>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618685 CA398998915 RCV002317308 |
1467 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398998926 rs1135402860 RCV000497092 |
1468 | V>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216970 CA10580314 rs876660320 RCV002515711 |
1468 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000761947 RCV002485974 rs1567862349 |
1469 | K>missing | Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567862353 RCV000761948 CA398998930 RCV002332541 |
1469 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597745728 RCV000810072 |
1470 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001030575 RCV002478807 rs876660093 RCV000632497 RCV000222235 RCV001731450 RCV000764112 CA10580315 |
1470 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876658250 CA10580316 RCV000706280 RCV000218457 RCV002503866 RCV001762468 |
1471 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002319343 rs1597745737 CA398998969 |
1472 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130045 CA165601 RCV000824482 rs587781790 |
1473 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA164682 RCV001778748 rs587781553 RCV001753511 RCV000467450 |
1474 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771420960 RCV000229500 RCV002318967 RCV001030576 RCV002500756 CA8486403 |
1476 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398999008 RCV002317250 rs1555618691 |
1476 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067640173 RCV001218984 |
1477 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319959 rs1060500293 CA398999014 RCV002329282 |
1477 | R>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060500293 CA16615218 RCV000476473 |
1477 | R>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000813631 rs1597746900 CA398999134 |
1478 | F>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570335 CA398999129 rs1555618802 |
1478 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618803 RCV001048291 |
1479 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757953485 CA8486422 RCV002319346 |
1479 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555618803 RCV000627457 RCV002060706 |
1480 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618806 RCV000632308 |
1481 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777229737 CA8486423 RCV000701500 |
1481 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10580317 RCV001770171 RCV000215539 rs876658776 RCV000537151 |
1482 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs746994734 RCV001318464 |
1482 | I>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681209 RCV000232352 RCV002311335 rs746994734 CA8486424 |
1482 | I>T | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1060500362 RCV002318996 RCV000459730 CA16615223 |
1482 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343928 rs1555618808 |
1483 | A>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632373 RCV002331120 CA398999213 rs1555618808 |
1483 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067662922 RCV001344587 RCV002329324 |
1484 | S>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811561 rs1279391103 RCV002319115 CA398999239 |
1485 | D>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001326241 RCV002486312 rs2067662991 |
1485 | D>Y | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567862860 RCV000704428 |
1486 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497179 rs1135402861 |
1487 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002327630 rs2067663223 RCV001290951 |
1487 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398999271 RCV002330837 rs1265291141 RCV000549771 |
1487 | P>S | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000989804 rs1597746962 |
1488 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681188 RCV002478809 rs876660162 CA10580318 RCV000218722 RCV000476720 |
1488 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002551855 CA398999290 RCV002319349 rs1597746958 |
1488 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002499272 RCV000705598 CA398999280 rs876660162 |
1488 | T>P | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_010998 RCV000059204 RCV000525910 rs199474743 RCV002316216 CA219587 |
1489 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001218673 rs2067663434 |
1489 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067663552 RCV001299341 |
1491 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000216126 CA10580319 rs876658334 RCV000533949 |
1491 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001206160 rs2067663652 |
1492 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000817563 rs1597746976 CA398999387 |
1493 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597746982 RCV000793533 |
1494 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618821 RCV000551106 |
1494 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000225910 rs878853896 |
1495 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1167976 CA398999428 COSM1167975 RCV001363001 RCV000569947 rs1555618823 |
1496 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001290940 rs2067664000 |
1497 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597746999 CA398999444 RCV000793842 |
1497 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8486430 rs763266925 RCV000527245 RCV000218826 |
1497 | S>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597747012 RCV000815100 |
1499 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398999475 RCV002319351 RCV002315773 CA398999478 rs764654925 RCV001214669 |
1499 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000164937 RCV003162695 RCV000232755 rs764654925 CA192115 |
1499 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000497027 CA398999503 rs1135402862 |
1500 | S>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555618829 RCV002317217 CA398999507 |
1500 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317310 CA398999539 COSM472534 rs1555618835 COSM472533 |
1501 | D>G | kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001061168 rs2067664389 |
1501 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000216287 rs876659607 RCV002500732 RCV000632321 CA10580320 |
1502 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555618837 RCV002315785 RCV000681287 RCV000707229 CA398999577 |
1503 | N>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781445 CA164270 RCV000693146 RCV002307399 RCV000129360 |
1503 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398999602 RCV001858127 RCV002315757 rs1555618839 |
1504 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567862930 CA891843826 RCV000704117 |
1506 | A>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497088 rs1135402863 CA398999657 |
1507 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317293 rs1135402863 CA398999654 |
1507 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067664784 RCV001061438 |
1508 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290817 rs1393895345 |
1508 | H>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706469 rs1254695587 CA398999674 |
1508 | H>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000688481 rs1567862956 |
1509 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM977444 COSM977443 RCV002327063 rs864622348 RCV000204133 CA348378 |
1509 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000129797 CA165109 COSM327287 rs546073780 RCV001818305 RCV002326843 RCV000680997 RCV000205307 COSM327288 |
1509 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555618846 RCV000632340 |
1510 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398999701 RCV000823896 rs1597747078 |
1510 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597747076 RCV002319353 CA398999695 |
1510 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067665189 RCV001066994 |
1511 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398999724 RCV000497171 rs1135402864 RCV002329181 |
1511 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305060 rs2067665189 |
1511 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290846 RCV001838471 CA398999734 rs1267947462 |
1512 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878853897 RCV001873457 RCV001092508 |
1512 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853897 RCV002317752 RCV000229153 CA10583506 |
1512 | W>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs113205862 CA289352887 RCV000539856 |
1513 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622404 CA348722 RCV000204499 |
1514 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001296305 rs864622404 |
1514 | N>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567862991 RCV000762991 CA398999784 RCV000691950 |
1515 | Q>* | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402865 RCV000497023 CA398999792 RCV001559507 |
1515 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000200251 CA339196 rs786203390 |
1516 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398999820 rs1567863000 RCV000689431 RCV002332418 |
1516 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA196436 rs786203390 RCV000166673 |
1516 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067665710 RCV001317490 |
1517 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685045 RCV001775951 rs1567863004 CA398999864 |
1519 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615248 RCV003168738 RCV000474829 rs1060500380 |
1519 | G>R | Neurofibromatosis, type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM329087 COSM342674 RCV002318495 rs1060500242 CA16615644 RCV000463317 |
1520 | Q>* | lung Neurofibromatosis, type 1 adrenal_gland Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555618859 RCV001211346 |
1520 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002327471 RCV001206336 rs2067665932 |
1521 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001775931 rs1555618860 RCV000632418 CA658798805 RCV002319059 |
1524 | S>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002550001 RCV002319356 TCGA novel CA398999959 rs1597747170 |
1524 | S>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
rs1555618862 RCV000465918 |
1525 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555618861 RCV000568938 CA398999965 RCV001853724 |
1525 | N>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001303443 rs587781542 CA164651 RCV000129555 |
1527 | D>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597748682 RCV000823648 |
1528 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660059 rs1555619001 CA399000121 |
1529 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044906 rs2067689582 |
1531 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000474271 rs1060500292 |
1533 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009595 RCV001814116 COSM1580305 RCV000999744 RCV000206013 RCV000255589 CA350085 RCV000492716 RCV003165492 COSM24466 RCV000415187 rs760703505 |
1534 | R>* | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome central_nervous_system soft_tissue Cafe au lait spots, multiple haematopoietic_and_lymphoid_tissue Gastric cancer [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000686475 rs867955218 CA289353613 RCV002317295 |
1534 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA399000228 RCV002319357 rs1567863578 |
1539 | M>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567863578 CA399000232 RCV000685158 |
1539 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000807262 rs1597748742 |
1540 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067690116 RCV001290852 |
1540 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597748749 RCV000850063 |
1541 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232540 rs2067690233 |
1541 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067690191 RCV001206204 |
1541 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459218 rs1064792912 |
1541 | T>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492624 rs1131691088 |
1544 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597748782 RCV000816695 |
1544 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696367 rs1567863580 |
1544 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399000288 RCV000582038 rs1555619015 |
1544 | A>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001007973 CA399000300 RCV000492330 RCV000660060 rs754023358 CA399000303 |
1545 | Y>* | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597748795 RCV002319358 RCV001862228 CA399000298 |
1545 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555619019 CA399000293 RCV002317261 |
1545 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660760 CA10580322 RCV001039214 RCV000216997 |
1546 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067690686 RCV001290833 |
1547 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580323 rs876658396 RCV000218815 RCV002518257 |
1548 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555619025 CA399000341 RCV000555162 |
1549 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001205512 rs2067690886 |
1550 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399000383 RCV002334401 RCV000709419 rs1172780277 |
1552 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000660061 rs1555619029 RCV002334224 |
1553 | P>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399000394 rs1033427343 RCV002316673 RCV002461368 RCV000692020 |
1553 | P>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA399000398 rs1597748857 RCV002319359 |
1553 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317290 RCV000823128 rs1033427343 CA289353653 |
1553 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000703305 RCV002334369 rs1319687326 CA399000401 |
1554 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567863614 RCV000694877 |
1555 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597748868 CA399000413 RCV002319360 |
1555 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555619033 RCV000599245 RCV002319048 RCV000660062 |
1557 | T>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399000450 rs876660065 RCV002315863 |
1557 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660065 RCV001216145 |
1557 | T>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580324 RCV000219857 rs876660065 RCV000689033 |
1557 | T>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319361 rs1597748910 CA399000462 |
1558 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1468638747 CA399000458 RCV000681034 RCV000529098 |
1558 | H>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2067691394 RCV001222362 |
1559 | W>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290877 rs2067691658 |
1559 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854555 RCV000660063 RCV000000378 CA114180 RCV001007974 |
1559 | W>* | Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (jmml) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751414513 RCV001577944 RCV000563776 RCV000199054 CA338364 |
1561 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2067691723 RCV001350820 |
1561 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751414513 RCV001296809 |
1561 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555619041 RCV000700146 RCV000599394 |
1563 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399000535 rs1427435078 RCV000800902 RCV002336601 |
1564 | L>F | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2067691859 RCV001206026 RCV002339522 |
1565 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210468 COSM220108 RCV001543516 CA399000578 RCV001000868 RCV002319139 rs1555619051 |
1567 | S>* | Hereditary cancer-predisposing syndrome soft_tissue Neurofibromatosis, type 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002334066 CA399000580 RCV000632366 rs1555619051 |
1567 | S>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555619052 RCV000560787 |
1568 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555619052 RCV000699326 |
1569 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697952 COSM133079 rs1567863648 CA399000629 |
1571 | E>* | Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2067692232 RCV001269122 |
1574 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399000676 RCV001067393 RCV000681040 RCV002319079 rs1567863650 RCV001816692 |
1574 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000190788 rs797044942 CA204853 RCV000632416 |
1577 | Q>* | Neurofibromatosis, type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001361540 CA399001158 RCV002319364 rs1597753156 |
1578 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399001167 rs1275751975 RCV003166303 RCV000811433 |
1579 | H>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1275751975 RCV000681262 RCV002334242 RCV001861895 CA399001168 |
1579 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000809160 rs1597753176 |
1580 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067764827 RCV001253616 |
1580 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660064 rs1555619395 |
1582 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704252 rs1567864972 |
1582 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1167129178 RCV001195872 |
1582 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567864983 RCV000690417 |
1583 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247894 rs2067765099 |
1583 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555619397 RCV000456650 |
1584 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290884 rs2067765257 |
1585 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597753208 RCV001009596 |
1586 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316507 rs767438491 RCV000547953 CA8486472 |
1586 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs767438491 RCV003159754 CA399001220 RCV000537747 |
1586 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001061297 rs2067765422 |
1588 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492696 rs1131691098 |
1589 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs185660700 RCV000764113 CA335711 COSM977450 RCV000195487 RCV000213390 RCV000679395 RCV003165467 COSM977449 |
1589 | T>M | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome endometrium Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555619402 RCV000632483 |
1590 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290888 rs2067765761 |
1590 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202507 rs2067765689 |
1590 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399001250 rs1567865021 RCV000699048 |
1590 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003165872 rs1567865010 RCV001572442 CA399001246 RCV000701581 |
1590 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002551865 CA399001255 RCV002319366 rs1597753246 |
1591 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211978 rs1597753246 |
1591 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8486474 RCV001310008 rs765799937 |
1592 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs2067765927 RCV001203544 |
1593 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339113 CA16615251 rs1060500303 RCV000474527 |
1594 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555619404 RCV000660065 |
1595 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804535 CA399001282 rs1597753263 |
1595 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399001293 RCV000699110 rs1567865042 RCV001260395 RCV002319089 |
1596 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002275052 RCV002319031 RCV000558084 CA8486475 rs753453385 |
1598 | T>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002317286 rs1555619407 CA399001311 |
1599 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555619407 RCV001290950 CA399001309 RCV002319367 |
1599 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290903 rs1555619407 RCV002511070 |
1599 | S>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210263 rs2067766404 |
1600 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000471442 RCV002318505 rs754651519 CA8486476 |
1601 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001568919 RCV000226977 rs878853898 CA10583507 RCV002315681 |
1602 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001298486 rs2067766672 |
1603 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2067766742 RCV001052263 |
1604 | P>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399001345 RCV002319368 rs199474766 |
1605 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000213560 RCV001727558 RCV000059207 rs199474766 CA219599 RCV000457745 VAR_021759 |
1605 | I>V | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1; reduces protein stability [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555619413 RCV000578384 |
1606 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658492 RCV000497109 RCV000215369 RCV001385426 |
1607 | Y>missing | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399001365 RCV002319369 RCV000660066 COSM177885 TCGA novel rs1555619416 CA399001364 |
1607 | Y>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Neurofibromatosis, type 1 large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA Ensembl dbSNP |
|
CA399001372 RCV002536578 RCV000760405 rs1567865089 |
1608 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399001370 rs1555619417 RCV000536386 RCV003159755 |
1608 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067766985 RCV001054757 RCV002327315 |
1608 | Y>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207605 rs1555619417 RCV002327477 |
1608 | Y>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660303 CA10580328 RCV000217294 |
1609 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044118 rs876658973 CA10580327 RCV000215359 |
1609 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555619420 RCV000626645 |
1610 | A>missing | Macrocephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223872 rs2067767184 |
1610 | A>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303231 rs2067767184 |
1610 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597753353 RCV000803985 |
1611 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223634 CA10580329 RCV000812956 rs876659197 RCV001762486 |
1611 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500316 VAR_002660 RCV000680825 CA16615259 RCV000456325 |
1611 | R>W | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA399001389 rs1555619423 RCV002317315 |
1612 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399006874 rs1555533268 RCV002317200 RCV000700673 |
1612 | R>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597829516 RCV000818194 CA399006900 RCV001759594 |
1616 | G>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533271 RCV002319032 RCV000539598 CA399006897 |
1616 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000807384 rs1597829519 |
1617 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220082 rs1466167635 CA399006940 RCV002317202 |
1619 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000130891 RCV001248456 rs587782213 RCV001775625 CA167324 |
1620 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2069325872 RCV001213423 |
1621 | D>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069325928 RCV001035005 |
1622 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807101 CA399006996 RCV002293462 RCV002315854 rs1555533280 |
1624 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597829557 RCV000819582 |
1625 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399007009 rs1555533285 COSM220094 RCV000626640 |
1625 | Y>* | soft_tissue Cafe au lait spots, multiple [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555533284 RCV000555227 RCV002330838 |
1626 | H>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290879 rs2069326347 |
1627 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681063 RCV001861887 CA399007021 rs1567611231 |
1627 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290938 rs2069326575 |
1628 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069326534 RCV001228852 |
1628 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399007034 rs1555533288 RCV000632271 |
1629 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069326761 RCV001048630 |
1630 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000533524 rs1555533290 |
1630 | T>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681422 rs1555533292 CA399007045 RCV002334243 |
1631 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597829604 RCV002319374 CA399007048 |
1632 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065818 rs2069327086 |
1632 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399007056 rs1567611255 RCV000688128 |
1633 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811632 rs1597829621 CA399007066 |
1634 | Y>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000583717 rs948982039 CA399007075 |
1635 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA165554 rs587781780 RCV000130028 |
1635 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069327013 RCV001290863 |
1635 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202866 CA194510 RCV000165911 |
1635 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202866 RCV001205712 |
1635 | Y>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000539134 CA399007103 rs1555533297 |
1639 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567611281 RCV000706500 RCV002334390 CA399007117 |
1641 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317266 CA399007123 rs1555533301 |
1642 | V>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319375 RCV002290547 rs1597829655 CA915949787 |
1643 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000477586 RCV002339115 rs1060500381 CA16615262 |
1643 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349215 rs2069327949 |
1644 | D>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001298487 rs2069327949 |
1644 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691123 CA399007131 RCV000632328 |
1644 | D>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691123 CA399007132 RCV000792977 |
1644 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002311247 rs1131691123 RCV002523992 CA399007133 |
1644 | D>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555533305 RCV003166549 RCV001246838 |
1645 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399007144 rs1555533305 RCV001532342 RCV000660068 RCV002319077 |
1645 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597829686 COSM1382150 COSM1382149 CA399007148 RCV002319377 RCV001862253 |
1646 | T>I | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV003162809 CA399007154 RCV000632359 rs1555533307 |
1647 | H>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055007 RCV002339275 rs2069328243 |
1647 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469644 RCV001030577 CA8487119 RCV001567513 rs770558820 RCV002338691 RCV000219524 |
1648 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000681085 RCV000546921 RCV002327095 CA8487120 rs376655102 RCV000221420 RCV003114391 |
1648 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597829715 RCV002319379 CA399007165 |
1649 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8487121 rs770124316 RCV002318987 RCV001775801 COSM124730 RCV000464668 |
1649 | G>R | upper_aerodigestive_tract Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001290919 rs2069328472 |
1650 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697759 rs1567611339 |
1650 | P>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399007173 RCV002336650 rs1597829723 RCV000807725 |
1650 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1402198290 CA399007170 RCV000562104 |
1650 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399007176 rs1555533314 RCV000632465 |
1651 | S>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533314 RCV000557085 CA399007174 |
1651 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399007187 rs1597829740 RCV002319381 RCV001351632 |
1652 | N>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775874538 RCV001862255 CA8487122 RCV002319380 |
1652 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1597829749 RCV000800915 |
1653 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000476128 RCV000222481 rs876659922 CA10580331 |
1653 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8487123 rs763413441 RCV001037911 COSM1259033 RCV000213730 RCV001658035 COSM1259032 |
1653 | R>H | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 oesophagus Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs763413441 COSM1581305 RCV000530842 COSM1581304 CA399007191 |
1653 | R>L | Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV002319383 rs1597829760 CA399007197 |
1654 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069329312 RCV001046633 |
1655 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567611351 RCV000686304 |
1656 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000532206 rs1555533323 |
1656 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA915949790 RCV002319385 rs1597829765 |
1657 | D>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217692 rs2069329470 |
1659 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167129 CA197563 rs786203709 |
1659 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319386 rs1597829782 |
1660 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069329686 RCV001232091 |
1660 | S>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240525 rs2069329774 |
1661 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1085307459 RCV000660069 RCV000489809 RCV000492080 |
1661 | K>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172245 rs2069329829 |
1661 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632381 rs1555533326 |
1661 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_082822 RCV001776000 CA399007385 RCV000791495 rs1597829901 |
1661 | K>R | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM35833 rs1567611375 RCV001257530 RCV000694562 CA399007253 |
1662 | W>* | Neurofibromatosis, type 1 Rhabdomyosarcoma central_nervous_system soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555533328 COSM1563913 CA399007252 RCV000560227 COSM1563914 |
1662 | W>R | Neurofibromatosis, type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001222333 rs1567611375 |
1662 | W>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690622 rs1567611380 |
1663 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002341171 RCV000626646 RCV000497219 rs1135402867 RCV001532343 RCV000660070 |
1667 | P>missing | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533332 RCV002315824 COSM560380 COSM560381 CA399007294 |
1668 | G>V | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002319387 CA399007304 rs761807609 |
1669 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001035178 rs2069330560 |
1670 | A>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615267 RCV000458556 RCV003222194 RCV002550885 RCV002319388 CA399007316 rs1060500255 |
1671 | Y>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069330719 RCV001290916 |
1672 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001298567 rs1555533338 |
1672 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1483541195 RCV000562425 CA399007317 RCV000558862 |
1672 | D>N | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002334069 rs1555533338 CA399007322 RCV000632457 |
1672 | D>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548760 rs1555533336 |
1673 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316510 RCV000537180 CA399007329 rs1201910133 COSM1520764 COSM1520765 |
1673 | N>S | lung Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000632351 rs1555533342 CA399007333 RCV002315855 RCV001252881 |
1674 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Microcephaly [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000214739 rs876660286 |
1675 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316638 rs756450772 RCV001867864 CA399007345 |
1676 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000223466 RCV003165570 rs756450772 RCV000463631 CA8487128 |
1676 | A>T | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001241181 rs1060500384 |
1677 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615532 rs1060500384 RCV000462713 |
1677 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069331323 RCV001227335 |
1678 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533347 CA399007358 RCV002341272 RCV000547384 RCV001770412 |
1678 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053788 CA195951 rs786203241 RCV000166466 |
1678 | Y>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399007357 rs1555533347 RCV001092510 RCV002319389 |
1678 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000360704 RCV000168431 RCV000305917 rs147327414 RCV002490459 RCV000345616 CA161045 RCV000121634 RCV000129642 RCV000034584 |
1679 | I>V | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1135402868 RCV001339355 |
1679 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680826 RCV002341172 rs1135402868 RCV000497071 |
1679 | I>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687805 rs1567611457 |
1680 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316611 rs758361270 CA8487130 RCV001068421 |
1680 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2069331474 RCV001211535 |
1680 | Y>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002462246 RCV002489461 rs1597829906 RCV000989809 RCV001809878 |
1681 | N>* | Neurofibromatosis, type 1 Cafe au lait spots, multiple Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009597 rs1597829913 |
1682 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069331850 RCV001057781 |
1683 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989810 rs1597829913 |
1683 | N>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811993 CA399007398 rs140994965 |
1683 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000525679 rs1555533354 CA399007413 |
1685 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746461616 RCV001208061 RCV002339533 |
1687 | R>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345509 rs2069332144 |
1687 | R>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM126829 rs1135402869 CA399007427 RCV000497154 |
1688 | E>* | upper_aerodigestive_tract Neurofibromatosis, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA165233 rs587781693 RCV000129858 |
1688 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533359 RCV000660071 |
1689 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069332520 RCV001760381 RCV001314994 |
1690 | T>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533363 RCV000660072 |
1691 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597829953 RCV001059469 |
1691 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338845 RCV001814101 rs863224661 RCV000199761 |
1691 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs863224661 CA399007449 RCV000799623 |
1691 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001222889 rs2069332805 |
1692 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399007464 rs1597829961 RCV002319391 |
1692 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399007453 rs1597829956 RCV002319390 |
1692 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000989811 rs1597829969 |
1693 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069332893 RCV001203985 |
1693 | H>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533365 RCV002315803 CA399007482 |
1693 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533367 CA399007513 RCV001858199 RCV000575088 |
1695 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1217148 RCV002319090 COSM1217149 RCV001023438 rs1567611500 RCV000699764 CA399007509 |
1695 | R>W | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555533366 RCV000464481 |
1696 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002341492 RCV000578376 rs1555533368 |
1696 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165623 RCV003162702 RCV000538141 CA193845 rs745489489 RCV001571338 |
1696 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001208340 rs2069333368 |
1698 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000222026 RCV001058619 rs769469854 CA10580335 |
1698 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10580334 rs876659017 RCV000632408 RCV000215963 |
1698 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069333669 RCV002339282 RCV001056214 |
1699 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319392 CA399007562 rs1597830004 |
1699 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002485661 RCV002319086 rs775786295 CA8487135 RCV000693418 |
1700 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000815538 rs1597830021 CA399007592 |
1701 | K>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221829 rs876659279 CA10580336 |
1701 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002461289 RCV002341273 RCV000548344 rs1555533374 CA399007626 |
1703 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660159 CA10580337 RCV000219388 |
1703 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660159 RCV001241788 |
1703 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687387 RCV000218096 rs876660487 CA10580338 |
1705 | R>K | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002318509 rs749669269 RCV000468559 CA8487136 |
1705 | R>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003222139 CA8487137 RCV002336673 rs769087878 RCV000812304 |
1706 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000853240 rs1597830046 |
1707 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1165222 COSM1165223 rs1597830056 RCV000797573 CA399007713 |
1708 | F>C | Neurofibromatosis, type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs876660316 RCV000460477 CA16615271 |
1709 | I>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221762 CA10580339 rs876660316 RCV001037682 |
1709 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8487138 RCV001068057 RCV002315850 rs774720054 |
1709 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2069334590 RCV001192725 |
1710 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009598 rs1597830078 |
1711 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567611549 CA399007761 RCV000702144 |
1711 | C>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399007770 rs1567611556 RCV002319396 |
1712 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319100 rs1567611556 CA399007771 RCV000781661 |
1712 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399007785 RCV000818140 rs1597830089 |
1714 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217727 rs1555533379 |
1714 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217136 rs2069334864 |
1714 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8487140 rs767469374 RCV000697336 |
1716 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002319064 rs767469374 CA399007798 RCV000632512 |
1716 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399007812 RCV000632389 RCV002334067 rs1555533381 |
1718 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000656741 rs1555533382 RCV001784223 |
1719 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597830137 RCV002319398 CA399007830 |
1719 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399007822 rs1434439252 RCV002317306 RCV001312436 |
1719 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2069335393 RCV001211798 |
1720 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680828 RCV000460990 CA8487141 RCV002257874 RCV000632325 RCV002338690 RCV000219317 RCV001126132 rs773378630 CA399007850 RCV001030578 RCV001126130 RCV000780547 RCV001126131 |
1720 | E>D | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399007862 rs1597830164 RCV002319399 |
1721 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002348836 rs1597830174 RCV001245761 |
1722 | E>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319402 CA8487143 RCV001247079 RCV001023551 rs766727694 |
1723 | Q>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000685859 CA10580340 RCV000214922 rs864622372 |
1723 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065593 rs2069336015 |
1725 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533393 RCV000556060 |
1727 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069336255 RCV001760207 RCV001219601 |
1727 | P>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002341275 rs1555533395 RCV000539978 CA399007981 |
1728 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399008010 RCV000801919 rs772831692 |
1730 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857767 RCV000222639 CA10580341 rs772831692 |
1730 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399008019 RCV000694357 rs1567611604 |
1731 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804726 rs876658602 CA10580342 RCV000215077 |
1731 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs202037436 RCV002318989 CA16615647 RCV000476700 |
1732 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2069336671 RCV001213225 |
1732 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069336948 RCV001240276 |
1733 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247030 rs2069336790 |
1733 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_002661 | 1733 | L>LGHEQQKLPAATLAL | NF1 [UniProt] | Yes | UniProt |
|
rs1597830232 RCV001009599 |
1734 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069337096 RCV001322267 |
1738 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659956 RCV000681298 CA10580343 RCV000219192 RCV000801852 |
1739 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315782 CA399008201 rs1555533402 |
1741 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002314935 rs780529277 RCV000554726 CA8487149 |
1741 | H>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000213105 rs780529277 CA10580344 |
1741 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001210320 rs2069337415 |
1742 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002494519 RCV000206576 RCV002317731 rs745407845 RCV001545516 CA350599 |
1742 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878853900 RCV000845194 RCV000229118 CA10583510 RCV002318968 |
1743 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Atypical coarctation of aorta [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000532957 rs1555533407 CA399008247 |
1744 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069337884 RCV001290808 |
1746 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215148 RCV002339562 rs2069338050 RCV002464413 |
1749 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000598912 RCV002341537 rs1555533409 |
1750 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290918 rs2069338311 |
1752 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761161 RCV001753612 RCV000206031 rs864622373 RCV002317736 CA350098 |
1752 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Retinoblastoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000205990 RCV001588983 CA165887 RCV000130179 RCV003162581 rs148540952 |
1753 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs148540952 CA399008380 RCV000678672 |
1753 | V>L | Keratoconus [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs370181275 RCV002317177 RCV000685481 CA8487153 |
1755 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA289378534 rs1021835871 RCV001772106 RCV000814053 RCV002336682 |
1757 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001298488 rs1021835871 |
1757 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660075 rs1358882546 CA399008879 |
1758 | G>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1358882546 RCV001223959 |
1758 | G>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046370 rs2069375050 |
1759 | S>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256716 RCV001233927 RCV002339644 rs2069375050 |
1759 | S>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069375331 RCV001235166 |
1761 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002350504 RCV001290945 rs2069375243 |
1761 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597831854 RCV000797218 |
1762 | V>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533550 RCV001223246 |
1762 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533550 CA399008935 RCV000660076 |
1762 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474905 rs1060500290 CA16615257 |
1762 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001268793 rs2069375606 RCV001389840 |
1763 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8487172 RCV000704616 RCV003165569 rs778427434 RCV000218761 |
1764 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399008964 RCV000556489 rs778427434 RCV002350190 |
1764 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8487173 RCV000466099 rs747584987 RCV000679398 RCV002313155 |
1765 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399009005 RCV000522875 RCV001262355 rs1555533555 |
1766 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533552 RCV000581394 |
1767 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs529905904 CA16615280 RCV000456414 |
1767 | A>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000632415 CA8487174 rs529905904 RCV002315735 |
1767 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2069376025 RCV001043380 |
1768 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM303874 RCV002311062 RCV000483267 CA10577035 RCV001257531 RCV000220916 COSM36883 rs876657714 |
1769 | R>* | Neurofibromatosis, type 1 large_intestine Rhabdomyosarcoma Hereditary cancer-predisposing syndrome central_nervous_system haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000622461 rs1555533559 CA399009051 RCV002316511 COSM3742170 RCV000534787 COSM3742171 |
1769 | R>Q | liver Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001290777 rs2069376216 |
1770 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069376426 RCV001064859 |
1771 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632446 RCV002063855 RCV000492200 RCV002341164 CA399009069 rs1131691103 RCV000680829 |
1771 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1209831572 RCV000798771 CA399009099 |
1772 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555533561 RCV000582157 |
1773 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002551880 RCV002319410 CA399009113 rs1597831917 |
1773 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002311255 rs1131691128 |
1775 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233467 RCV002339643 rs2069376973 |
1776 | S>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069377259 RCV001290802 RCV002339716 |
1777 | V>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000470729 rs876658562 CA16615535 |
1777 | V>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061779 rs2069377113 |
1777 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002519673 CA10580347 rs876658562 RCV000214575 |
1777 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1411525800 CA399009204 RCV000632391 |
1780 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002319411 CA399009224 rs1160436761 |
1782 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001597159 rs1160436761 CA399009225 RCV002476109 RCV000547255 RCV002314936 |
1782 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567612415 RCV000691719 |
1783 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042528 rs1597831963 RCV002319413 CA399009236 |
1783 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001050704 RCV002319414 rs1060500280 CA399009242 |
1784 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002315715 RCV000632335 CA399009243 rs1060500280 RCV000679400 RCV002476217 |
1784 | Y>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16615537 rs1060500280 RCV000476853 |
1784 | Y>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002250553 rs199474782 CA219603 VAR_021760 RCV000059208 |
1785 | A>S | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM117877 CA399009254 rs1555533569 RCV000660077 |
1786 | S>* | ovary Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM215675 CA399009256 COSM175465 rs1555533569 RCV000557384 |
1786 | S>L | Neurofibromatosis, type 1 large_intestine Variant assessed as Somatic; impact. central_nervous_system [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555533570 CA399009260 RCV000535709 |
1787 | E>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319416 rs1597831986 |
1788 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069378120 RCV001340620 |
1788 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218774 rs2069378035 |
1788 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533573 RCV002317212 CA399009276 |
1789 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399009272 rs1555533571 RCV002316642 RCV001858204 |
1789 | E>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597831990 RCV000810744 CA399009282 |
1790 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597831996 RCV000813656 CA399009294 |
1791 | I>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290806 rs2069378463 |
1792 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319417 RCV002271610 CA399009301 rs1597832002 |
1792 | C>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002343218 CA399009303 RCV000632332 rs761676110 |
1793 | L>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597832021 RCV000989813 |
1794 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703750 rs1567612435 |
1794 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142867979 CA197853 RCV000528734 RCV000167252 RCV002485040 |
1794 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000568297 RCV001775891 CA399009307 RCV002317199 rs1555533574 RCV001853726 |
1794 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399009318 CA399009319 RCV002319418 rs1135402870 RCV000497063 |
1795 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705947 CA399009316 rs1567612446 |
1795 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069378982 RCV001042714 |
1795 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069379168 RCV001290800 |
1796 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597832043 RCV001232502 RCV001009600 CA399009338 |
1798 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597832056 RCV000993759 |
1802 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001030579 RCV002346233 rs2069379800 RCV001049090 |
1803 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs559910904 CA166564 RCV000130513 RCV002345444 RCV000472736 RCV000788617 |
1803 | I>V | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002348766 rs1287561681 CA399009384 RCV001227645 |
1805 | N>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306777 rs1443729188 CA399009399 |
1807 | G>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs760649828 CA399009408 RCV002315719 |
1808 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000220372 RCV001770168 RCV000534333 rs760649828 RCV003165552 CA8487179 |
1808 | T>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA167357 RCV002345445 RCV000519287 RCV000228452 rs587782220 RCV000130910 |
1809 | P>L | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000691607 rs1567612483 |
1810 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002531419 RCV000681403 rs1567612488 |
1811 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232739 rs2069380487 |
1812 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs991848606 CA399009450 RCV000681061 RCV002343425 |
1814 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399009445 RCV002315759 rs1036523228 |
1814 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555533587 RCV001244066 |
1815 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533587 CA399009452 RCV000632495 |
1815 | Q>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069380852 RCV001209369 |
1816 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399009470 RCV002317208 rs1555533589 |
1817 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319628 RCV001228089 CA399009471 rs1555533589 |
1817 | C>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8487181 COSM96331 rs368998534 RCV001209522 |
1819 | A>T | lung Neurofibromatosis, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000632409 rs1555533590 RCV002343220 CA399009487 |
1819 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232084 rs786202459 RCV000165279 CA192960 RCV001762377 |
1820 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA399009491 RCV002319578 rs1597832129 RCV000802831 |
1820 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202459 RCV002345869 CA399009489 RCV000816263 |
1820 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000690333 rs1567612531 |
1821 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067547 rs1597832135 RCV002319629 CA399009495 |
1821 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069381323 RCV002350503 RCV001290838 |
1822 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615651 RCV000461087 RCV002313157 rs1060500328 |
1822 | Q>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002319630 CA399009511 RCV001873377 rs1597832156 |
1823 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399009508 rs1555533592 RCV002315826 RCV000821330 |
1823 | S>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002272259 rs267606605 RCV000819766 RCV000492318 RCV000000391 |
1824 | I>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000549107 RCV002248763 RCV002314937 rs370858405 CA8487182 |
1824 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2069381682 RCV001323402 |
1825 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497149 CA399009526 rs1135402871 |
1826 | H>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000984132 rs1135402871 CA399009525 |
1826 | H>N | Multiple myeloma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583512 RCV000225849 RCV002319468 rs878853902 RCV001024066 |
1826 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399009538 RCV000700096 rs1555533607 RCV000606706 RCV002343166 |
1827 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632486 rs1555533605 CA399009536 |
1827 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002343658 RCV000794407 rs1299780528 CA399009533 |
1827 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA399009540 RCV000798760 rs1555533609 |
1828 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216424 CA10580348 COSM382826 RCV000632434 COSM382825 rs876660298 |
1828 | R>Q | lung Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV002315823 RCV000680830 CA399009539 RCV000632461 rs1555533609 |
1828 | R>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000999745 RCV001257603 COSM39600 COSM1382155 CA276040 RCV000190889 RCV002319460 rs797045139 RCV000439869 RCV002273979 RCV001775095 RCV002503749 RCV001027793 |
1830 | R>C | Neurofibromatosis-Noonan syndrome Neurofibromatosis-noonan syndrome (nfns) Intellectual disability Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome central_nervous_system Neurofibromatosis, familial spinal [ClinVar, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA276060 RCV000190893 rs797045139 RCV000756426 |
1830 | R>G | Neurofibromatosis-noonan syndrome (nfns) Neurofibromatosis, type 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771529172 RCV002319500 CA16615261 COSM1382156 COSM1382157 RCV000459557 RCV003133265 |
1830 | R>H | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs771529172 RCV002311032 RCV000190890 CA276045 RCV000762992 RCV001589057 |
1830 | R>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs771529172 RCV000190891 CA276050 |
1830 | R>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000190892 rs797045139 CA276055 |
1830 | R>S | Neurofibromatosis-noonan syndrome (nfns) Neurofibromatosis, type 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001784617 RCV001061771 rs2069382585 |
1831 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402872 CA399009572 RCV000497245 |
1831 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204053 rs2069382435 |
1831 | W>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238389 rs2069382435 |
1831 | W>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597832223 RCV000799194 |
1832 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069382639 RCV001065163 |
1832 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069382639 RCV001048471 |
1832 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319634 rs372932380 CA399009605 |
1833 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597832235 CA399009622 RCV000801514 |
1834 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001291608 RCV001056977 rs786202177 |
1835 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA191978 RCV000164872 rs786202177 |
1835 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580349 rs876660025 RCV000221556 |
1835 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660622 RCV000213811 |
1837 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319464 COSM977477 rs771597781 CA8487185 RCV000218141 RCV000660078 COSM977478 |
1837 | D>N | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000000365 rs267606596 |
1838 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515448 rs368654378 RCV001128218 CA169448 RCV001128217 RCV002345446 RCV000132225 RCV000168027 RCV001128219 RCV000484858 |
1838 | S>C | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000632470 rs1555533619 CA399009690 |
1838 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002526835 rs1555533621 RCV002317176 |
1839 | I>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246385 RCV000788739 rs1597832304 |
1839 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319636 rs1597832296 CA399009705 |
1839 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069383586 RCV001044599 |
1841 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345737 RCV000206167 rs786203570 COSM1736123 COSM40997 RCV001824299 CA350231 |
1841 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000130231 RCV000492817 rs151046636 CA165990 |
1841 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs786203570 COSM1382161 COSM1382160 CA197110 RCV000166948 |
1841 | Q>K | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002319637 rs1597832336 CA399009747 |
1842 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580351 RCV000218268 rs876660928 |
1842 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399009768 RCV000693040 rs1567612632 |
1843 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267606597 RCV000000366 |
1844 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533628 RCV000484477 RCV002526961 |
1844 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236903 rs2069383981 |
1844 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597832360 RCV000793372 |
1845 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567612641 CA399009787 RCV001868305 RCV000681162 |
1845 | I>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003128804 RCV000466993 rs1060500339 CA16615538 |
1845 | I>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500339 RCV001061220 |
1845 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002343427 rs1567612647 RCV000684842 |
1846 | R>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319638 rs769843989 CA399009798 RCV001226838 |
1846 | R>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001214778 TCGA novel rs2069384348 RCV002348712 |
1846 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001036154 CA8487187 rs769843989 |
1846 | R>W | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001339187 rs2069384394 |
1847 | P>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693158 CA399009817 rs1555533631 |
1847 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533631 CA399009819 RCV002316661 |
1847 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219073 rs2069384394 |
1847 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402873 RCV000497089 |
1849 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1170679293 RCV000797116 CA399009838 RCV001776007 |
1849 | D>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555533636 RCV000660079 |
1850 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622742 rs1555533637 CA399009863 |
1850 | V>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399009855 RCV000991192 rs1597832397 |
1850 | V>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207930 rs1555533637 |
1850 | V>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350490 RCV002350657 rs1597832397 |
1850 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399009882 RCV000521840 rs1555533638 RCV001290929 |
1851 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047450 RCV002285266 rs267604793 CA289378918 |
1851 | P>S | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001071138 rs2069385223 |
1853 | T>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533641 RCV000660080 |
1854 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533644 RCV000632502 |
1854 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853903 RCV001751553 RCV001290820 |
1854 | L>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583513 rs878853903 RCV000231397 RCV002319469 |
1854 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001797813 RCV001038783 rs2069385474 RCV002348339 |
1855 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069385520 RCV001303612 RCV003166713 |
1855 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497145 rs1135402874 |
1857 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065090 rs771837192 CA399009974 RCV002319640 |
1857 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1135402875 RCV000497243 |
1858 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319583 rs786203416 CA399009977 RCV000806469 |
1858 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1217152 RCV000166709 rs786203416 RCV000540796 RCV002478516 COSM71825 CA196538 |
1858 | A>T | ovary Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000218608 CA10580353 rs876659180 |
1859 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001760054 RCV001071139 rs746689492 CA289378962 |
1860 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001290785 rs2069385970 |
1861 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240705 rs1555533647 |
1861 | N>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010017 rs1555533647 RCV002315836 |
1861 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533648 RCV000542102 |
1863 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345866 RCV000815415 CA399010030 rs1597832460 RCV002245686 |
1863 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615264 RCV000462095 rs1060500332 |
1863 | G>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533650 RCV002317307 |
1864 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567612716 RCV001325499 |
1864 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069386536 RCV001290847 |
1869 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010071 RCV001092511 rs1597832482 RCV000818969 |
1869 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA191710 RCV000408787 RCV003162694 RCV001257532 rs786202112 RCV000494213 RCV000762993 RCV000164762 COSM977480 COSM977479 |
1870 | R>Q | Neurofibromatosis, type 1 Rhabdomyosarcoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Neurofibromatosis, familial spinal Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA399010102 RCV002319641 rs1597834618 |
1873 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555533842 RCV000624479 RCV003166629 RCV001290843 |
1874 | Y>missing | Inborn genetic diseases Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002350097 RCV000492596 rs1131691081 |
1875 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238813 rs1275173622 |
1875 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660081 rs1555533843 CA399010120 |
1875 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051524 RCV000680874 rs1131691081 |
1877 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071090 rs2069448374 |
1877 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069448326 RCV001036461 |
1877 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069448419 RCV001215306 |
1877 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290841 rs2069448473 |
1878 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290870 rs2069448538 |
1879 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497170 rs1135402877 |
1879 | A>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010148 RCV002319526 rs1555533845 RCV000544058 |
1879 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067844 rs2069448879 |
1880 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567613595 RCV001070852 |
1880 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567613595 CA399010152 RCV000692054 |
1880 | L>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658349 RCV000465692 CA16615269 RCV002318501 |
1881 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580354 RCV000221436 rs876658349 RCV001857760 |
1881 | T>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567613604 RCV000705110 |
1882 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010166 RCV000806248 rs1597834659 |
1882 | C>W | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796772 COSM560377 RCV002345759 CA399010162 rs1597834656 COSM560376 |
1882 | C>Y | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1060500378 RCV000463606 CA16615653 |
1884 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399010172 RCV000492298 rs1060500378 |
1884 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002532706 CA399010189 RCV000599247 rs1555533853 |
1886 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069449497 RCV001052698 |
1888 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA336256 rs863224662 RCV000196231 |
1888 | I>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660082 rs1555533856 |
1889 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8487214 COSM417604 COSM417605 rs764782945 RCV001338921 |
1889 | E>K | Neurofibromatosis, type 1 urinary_tract Variant assessed as Somatic; 4.62e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000810609 rs1597834703 |
1890 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597834706 CA399010217 RCV000821565 |
1890 | G>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597834706 RCV001290899 |
1890 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010220 RCV000701738 RCV002343538 rs1567613630 |
1890 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM133080 RCV000226584 rs878853904 CA10583514 |
1891 | Q>* | Neurofibromatosis, type 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA399010227 RCV001862285 rs1555533857 RCV002319643 |
1891 | Q>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497019 RCV001230510 rs1135402878 |
1892 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001281344 rs2069450324 |
1892 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658130 RCV001564704 RCV000660083 CA399010233 |
1892 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1475358670 RCV000660084 |
1893 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774893767 RCV000809479 CA399010240 |
1894 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8487215 RCV000559608 COSM436331 rs774893767 COSM436330 |
1894 | E>Q | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA399010257 RCV001063467 RCV002319507 rs1135402879 RCV000497076 |
1896 | S>* | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597834751 CA399010263 RCV002319645 RCV001065404 |
1897 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009601 CA399010277 rs1597834760 |
1899 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000477528 rs1060500353 |
1900 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234349 rs2069451171 |
1901 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1465309384 CA399010295 RCV002319647 |
1902 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1465309384 RCV000681199 RCV002317237 CA399010297 RCV000632437 |
1902 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001219281 rs2069451431 |
1903 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024364 rs1597834780 CA399010305 RCV002319648 |
1903 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA349894 RCV000205781 rs864622647 |
1904 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs864622647 RCV001572296 CA399010309 RCV000989814 |
1904 | N>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10580356 RCV000632281 RCV000216529 rs876660040 |
1907 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399010330 RCV002317292 rs1555533868 |
1907 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567613677 RCV000694443 CA399010327 |
1907 | F>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694334 rs1567613682 |
1908 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597834820 RCV000813132 |
1910 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000764114 rs751904277 RCV002317178 RCV000632443 CA8487218 RCV003159137 |
1910 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2069452094 RCV001290942 |
1911 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660212 RCV000688212 RCV000214983 RCV001753677 |
1911 | I>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807481 rs1597834839 CA399010352 |
1911 | I>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000537926 rs146523293 RCV000164984 CA192222 |
1911 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000466549 CA16615284 rs1555533871 |
1912 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069452266 RCV001206025 |
1912 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel rs1597834842 RCV002319649 CA399010366 |
1913 | K>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV002476228 CA399010377 RCV000686301 RCV000562995 rs1555533873 |
1914 | T>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231464 rs2069452483 |
1914 | T>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853785 RCV002315849 rs1555533875 CA399010381 |
1915 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290819 rs62070718 CA399010384 |
1916 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001053746 rs62070718 |
1916 | A>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069452996 RCV002348665 RCV001204905 |
1917 | A>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069452996 RCV001337944 |
1917 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750915711 RCV001347426 |
1918 | N>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs534249104 RCV000206068 CA195880 RCV000166441 |
1918 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_082823 CA399010555 rs1304057833 RCV002348855 RCV001261801 |
1918 | N>T | Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001855895 COSM1382170 COSM42795 rs1227869359 RCV000757566 CA399010400 |
1919 | E>K | Neurofibromatosis, type 1 large_intestine central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA399010423 RCV002319650 rs1597834892 |
1922 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001218189 rs2069453458 |
1923 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216311 RCV002348720 rs786203824 RCV001556301 |
1923 | T>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203824 RCV002510804 RCV001824127 RCV000167299 RCV000793704 CA197956 |
1923 | T>M | Neurofibromatosis-Noonan syndrome Neurofibromatosis-noonan syndrome (nfns) Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16615278 rs786203824 RCV000476470 |
1923 | T>R | Neurofibromatosis-noonan syndrome (nfns) Neurofibromatosis, type 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399010436 rs1198491194 RCV000804976 CA399010434 |
1924 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000000403 rs137854565 CA251477 |
1925 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497163 rs1135402880 RCV000506260 |
1927 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167400 CA198197 RCV002274922 RCV000762994 rs786203896 |
1928 | E>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043567 rs2069453957 |
1928 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632352 rs1555533883 |
1929 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555533882 RCV000660085 |
1929 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057520 rs2069454068 RCV001280779 |
1929 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801401 RCV000165473 RCV000551348 CA399010474 CA193494 rs786202591 RCV001726214 |
1929 | E>D | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069454068 RCV001228530 |
1929 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069454362 RCV001576311 RCV001036624 |
1930 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247733 RCV001565195 rs2069454402 |
1930 | C>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001339674 RCV002350616 rs2069454402 |
1930 | C>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000797782 rs1597834952 |
1934 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069454728 RCV001348715 |
1936 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858131 RCV002315813 rs1555533885 CA399010533 |
1938 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002331119 RCV000632309 CA289384412 rs906075234 |
1938 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000989815 rs1481408918 |
1939 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989816 CA399010551 rs1173859882 |
1939 | I>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1304057833 RCV001302168 |
1939 | I>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1173859882 CA399010552 RCV000819959 RCV002345888 |
1939 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001290830 rs2069601265 |
1940 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069601534 RCV001236748 |
1942 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002327236 rs1597840008 |
1944 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000583429 RCV001008849 rs1555534378 |
1944 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304804 rs2069601725 |
1944 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000535139 RCV000850064 rs1555534379 |
1945 | C>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555534380 RCV000623274 CA399010601 |
1945 | C>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069601882 RCV001264387 |
1946 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010602 RCV000660088 rs1422333640 |
1946 | L>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399010606 rs1597840024 RCV002327237 |
1946 | L>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000549898 COSM560372 COSM560373 CA166718 RCV000130591 rs587782088 RCV001546313 |
1947 | E>* | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000497041 CA645373102 rs1135402881 |
1948 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057520575 CA399010617 RCV000821069 |
1948 | Y>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597840055 RCV000989817 |
1949 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597840049 CA399010625 RCV000800513 |
1949 | M>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555534391 CA399010639 RCV002358452 RCV000538331 |
1951 | P>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069602426 RCV001290901 |
1952 | W>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3402746 RCV000579351 COSM3402747 rs1555534393 CA399010649 RCV001853840 |
1952 | W>* | Neurofibromatosis, type 1 central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002354255 RCV000492445 CA219611 VAR_002662 RCV000548538 RCV000059210 rs199474791 |
1952 | W>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199474792 CA219615 VAR_002663 RCV000059211 RCV000000362 |
1953 | L>P | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001224294 rs199474792 |
1953 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_021761 | 1953 | L>del | NF1 [UniProt] | Yes | UniProt |
|
RCV002354972 RCV001035120 rs2069602711 |
1954 | S>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001352596 rs2069602711 |
1954 | S>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704769 CA399010664 rs1567615782 |
1955 | N>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399010670 RCV002317241 rs747678243 |
1956 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399010672 rs1597840087 RCV002327238 |
1956 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3958172 CA399010673 rs1597840087 RCV002337072 RCV001209336 COSM3958173 |
1956 | L>R | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2069602993 RCV001218760 |
1957 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069603045 RCV001280852 |
1958 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010685 RCV000798011 rs1296862549 |
1958 | R>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1462287670 RCV002529045 COSM220119 RCV000578842 CA399010700 |
1960 | C>* | Neurofibromatosis, type 1 soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs2069603347 RCV001222283 |
1961 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220977 rs1555534402 |
1962 | H>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555534402 CA399010715 RCV000526788 RCV002358453 |
1962 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069603579 RCV001230298 |
1963 | N>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566765 rs1555534403 RCV002317256 |
1963 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002352156 CA399010750 rs1567615807 RCV000695119 |
1967 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000000371 COSM30766 RCV000418287 COSM3402748 RCV000492774 RCV000762995 RCV001009602 CA325489 rs137854552 |
1968 | R>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system soft_tissue Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000681183 RCV000165418 CA193347 RCV000233267 RCV002354408 rs143502927 RCV001818379 |
1969 | Q>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000459762 rs1060500354 |
1970 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224835 RCV000492418 RCV000200729 |
1970 | R>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267606595 CA251435 RCV000000363 |
1970 | R>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207153 rs2069605938 |
1971 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001197901 rs2069606043 |
1972 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290892 rs2069605987 |
1972 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010787 RCV000805841 rs1597840153 |
1973 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001862295 RCV002337074 CA399010790 rs1597840159 |
1974 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555534411 CA399010798 RCV002337076 |
1975 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001310358 CA399010799 rs1555534411 RCV000539240 |
1975 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002356637 rs1060500349 RCV000472691 |
1976 | D>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA289384606 rs568852704 RCV001342932 RCV001209409 CA8487273 |
1976 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA399010811 rs1555534416 RCV000564134 |
1977 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069606635 RCV001760220 RCV001226798 |
1978 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069606635 RCV001290906 |
1978 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775480099 CA399010821 RCV000690370 |
1979 | I>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399010825 RCV002315844 rs1555534418 |
1979 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775480099 RCV000632439 CA8487274 |
1979 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16615546 RCV000458617 rs1060500336 RCV002339114 |
1980 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567615872 RCV000685077 |
1981 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8487275 COSM705657 RCV002526832 COSM705658 rs762935987 RCV002316607 |
1981 | M>V | lung Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs876658484 RCV000215805 CA10580361 RCV000632511 |
1983 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000465912 RCV002311768 RCV000482669 CA8487276 rs764291252 COSM1382176 COSM1382177 |
1984 | N>S | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001233662 rs2069607779 |
1986 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069607664 RCV001227123 |
1987 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010873 RCV001040641 COSM2149300 rs876659070 RCV000760406 COSM35643 |
1987 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10580362 RCV000472640 RCV000221781 rs876659070 |
1987 | Q>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316629 CA399010877 rs757536610 COSM1382179 COSM1382178 |
1987 | Q>H | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000681308 CA399010895 RCV001063814 rs1567615902 |
1989 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597840273 RCV000797588 RCV002352337 |
1992 | I>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010910 rs1597840279 RCV000807374 |
1992 | I>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597840291 RCV001009603 |
1994 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399010933 RCV000694948 rs1567615913 |
1995 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660696 CA10580365 RCV001797071 RCV000215669 COSM220095 RCV000660089 RCV000763391 |
1997 | W>* | Neurofibromatosis, type 1 adrenal_gland Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. soft_tissue Neurofibromatosis, familial spinal [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1597840306 RCV001209316 RCV002346219 CA399010945 |
1997 | W>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399010951 rs1555534426 RCV000632478 |
1998 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000681092 rs753703741 CA399010958 RCV002352103 |
1999 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001300168 rs2069608865 |
1999 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207992 rs1555534429 RCV002356892 |
2000 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069608977 RCV001051717 |
2000 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555534429 CA399010965 RCV002315792 |
2000 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399010972 RCV000530949 rs878853905 RCV002461290 |
2001 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474751 RCV000582763 RCV000552682 RCV000059212 VAR_021762 CA219619 CA399010970 |
2001 | G>R | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000229540 CA10583515 rs878853905 |
2001 | G>V | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA399010976 RCV001824367 RCV002343540 RCV000702000 rs1567615941 |
2002 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000992432 RCV000576617 CA399010980 CA399010981 rs1555534432 |
2002 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1179712488 RCV002346221 |
2004 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597842207 CA399011007 RCV002346222 |
2004 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069668251 RCV001235095 |
2004 | T>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597842221 RCV002346223 |
2005 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244414 rs876658702 |
2005 | D>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580366 RCV000215107 rs876658702 |
2005 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069668597 RCV001057344 |
2007 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069668717 RCV001776151 RCV001222799 |
2008 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA191001 rs786201924 RCV000164455 |
2008 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2069668833 RCV001062667 |
2010 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853906 CA10583516 RCV000227206 |
2011 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000681132 RCV002493127 CA399011046 rs1567616649 |
2011 | L>V | Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474783 RCV001067728 |
2012 | D>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000059213 CA219623 VAR_021763 rs199474783 |
2012 | D>N | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV003165558 rs876658710 RCV000221400 RCV000519724 CA10580367 RCV000800106 |
2013 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567616663 CA399011058 RCV002352180 RCV000699297 |
2013 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069669370 RCV001301791 |
2015 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069669492 RCV001044940 |
2018 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632507 CA399011122 rs1555534600 |
2018 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069773 rs2069669625 |
2019 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399011139 RCV000701437 RCV002343534 rs1567616673 |
2019 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305933 RCV001759712 CA399011142 rs1597842258 RCV002346225 |
2020 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002358454 RCV000560393 CA399011164 rs1555534605 |
2021 | G>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3958174 COSM3958175 RCV002317311 CA399011180 rs1555534606 |
2022 | G>V | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA399011200 RCV000544372 rs1555534607 |
2023 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823284 rs1376868609 CA399011230 RCV002352470 |
2026 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001247907 rs2069670110 |
2028 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580368 RCV000213147 rs767869530 RCV001066894 |
2028 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767869530 CA8487294 RCV000687367 RCV002315798 |
2028 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000559037 rs1555534611 |
2031 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399011318 rs1597842296 RCV002346228 |
2031 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049156 rs2069670563 |
2033 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399011352 rs1597842300 RCV002346229 |
2033 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM560371 RCV000692980 COSM560370 rs1567616695 CA399011365 |
2034 | T>I | lung Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2069670885 RCV001235609 |
2036 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555534612 RCV001061328 CA399011392 RCV000626647 |
2037 | A>T | Neurofibromatosis, type 1 Cafe au lait spots, multiple [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317282 rs1555534614 CA399011431 RCV000693638 |
2039 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069671270 RCV001068482 |
2040 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567616704 CA399011435 RCV000701560 |
2040 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315709 CA399011452 rs1555534616 |
2041 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317230 rs1555534618 |
2046 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244878 rs2069671730 |
2047 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002356814 rs1135402882 CA399011590 RCV000497187 |
2049 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002354926 rs1597842710 |
2050 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001550330 rs1300330804 RCV001224793 CA399011672 |
2050 | V>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001320880 rs2069681516 |
2052 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500289 RCV000457886 RCV000567130 CA16615550 |
2053 | R>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399011709 rs1060500289 RCV000801867 |
2053 | R>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317279 RCV000219747 CA399011728 CA10580370 rs876660651 RCV001204801 |
2054 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001235738 rs1037341012 CA289386082 |
2054 | M>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399011723 rs1555534665 RCV000688267 |
2054 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1037341012 RCV001210251 |
2054 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001231950 rs2069681958 |
2055 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399011742 RCV000813683 rs1597842735 |
2055 | C>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399011747 RCV000722019 rs1555534667 |
2056 | K>* | Pilocytic astrocytoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399011748 rs1555534667 RCV002317166 |
2056 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567616894 RCV000684957 |
2058 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001588968 RCV000121636 RCV000205125 RCV000130497 rs201712827 CA161055 |
2058 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002356638 CA8487326 rs761029453 RCV002480346 RCV000462534 |
2059 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597842757 RCV000801153 CA399011778 |
2060 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555534668 RCV001858206 RCV002317169 CA399011805 |
2062 | C>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2069682584 RCV001070632 |
2063 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069682819 RCV001061459 |
2064 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497036 rs1135402883 |
2066 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399011847 rs1567616928 RCV000700271 |
2066 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580371 RCV000216358 rs876659172 |
2068 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002352202 CA399011878 rs876659172 RCV000703903 |
2068 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399011917 rs1135402884 RCV000497124 |
2071 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399011921 rs1597842800 RCV000801223 RCV003166202 |
2071 | Q>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001346551 rs1026776734 CA289386138 |
2073 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290930 rs2069683635 |
2074 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002317269 rs1555534673 |
2074 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399011996 RCV000579286 RCV001809681 rs1555534677 |
2075 | W>* | Cafe au lait spots, multiple [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813506 rs1597842820 CA399012011 RCV001816887 RCV002352422 |
2076 | D>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555534680 RCV000660093 |
2077 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1166707 rs1597842830 CA399012019 COSM1166706 RCV002354929 |
2077 | D>N | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA399012031 RCV000707050 rs1555534684 RCV002315814 |
2077 | D>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001327808 rs1597842830 |
2077 | D>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069684102 RCV002354993 RCV001039746 |
2080 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069684176 RCV001299745 |
2081 | L>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290799 rs2069684411 |
2084 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA212547 VAR_017669 rs137854561 RCV000000386 RCV002354144 |
2088 | L>P | Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal FSNF; no cafe-au-lait macules; null mutation; 50% reduction of protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002354931 rs1597842872 CA399012175 |
2090 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000526669 RCV002358455 CA399012180 rs1555534696 |
2091 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632382 rs1555534697 |
2092 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066492 rs2069685829 |
2092 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632383 rs1555534698 CA399012196 |
2093 | S>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069686019 RCV001205138 |
2094 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234806 rs894460960 |
2098 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306679 rs894460960 CA289386179 |
2098 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000220477 rs764106639 CA10580372 RCV000541558 |
2098 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000681425 CA16615552 RCV002356639 RCV000461160 rs1060500382 |
2099 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001346013 rs2069686615 |
2100 | L>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003133419 CA399012239 RCV000632480 rs1555534708 |
2100 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399012244 rs756746198 RCV002311254 |
2101 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000660094 rs1555534712 |
2102 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597842936 RCV001548732 RCV002354933 |
2102 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002354934 rs1162388561 CA399012249 |
2102 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001851348 RCV001065035 rs1131691125 RCV002311249 |
2103 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219829 rs876659471 |
2103 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399012255 RCV002367781 rs1555534719 RCV000540039 |
2103 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2069687450 RCV001231171 |
2103 | L>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580375 RCV001786346 RCV000698910 rs876660000 RCV000220062 |
2104 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780728198 RCV000632395 CA399012667 |
2104 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1555534726 RCV002279454 CA399012674 RCV000632463 |
2105 | H>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002354935 rs1597843007 COSM327285 CA399012694 |
2106 | V>A | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000564443 rs755791578 CA8487333 RCV000554923 |
2106 | V>I | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs2069687965 RCV001046935 |
2108 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469586 rs876658920 CA10580376 RCV000221080 |
2108 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA289386238 RCV001853725 rs1024333224 RCV000574120 |
2108 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000497210 rs1135402885 |
2109 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000167021 rs786203627 CA197296 |
2109 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214352 RCV002249805 rs2069688250 |
2109 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555534735 RCV002317188 |
2112 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000605446 RCV000233050 RCV002354638 CA8487335 rs749672954 |
2112 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000806950 CA8487336 rs768982249 |
2113 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001316657 rs768982249 |
2113 | T>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597843052 RCV000804311 |
2114 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399012786 rs1567617070 RCV000680038 |
2114 | G>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002368137 CA289386315 rs867091831 RCV001345076 |
2115 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399012794 RCV002315743 rs867091831 |
2115 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001231816 rs2069689101 |
2119 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567617045 RCV000707164 |
2120 | A>LLLS* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691133 CA645369650 RCV000492491 |
2120 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069689307 RCV001220216 |
2121 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989818 rs1597843096 |
2122 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583517 RCV000234347 rs878853907 RCV000780543 RCV002317754 |
2122 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000531871 rs1555534751 |
2123 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702801 rs112546213 CA399012840 RCV002352196 |
2123 | H>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632481 rs112546213 CA289386357 |
2123 | H>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001585754 rs1597843129 VAR_071671 CA399012851 RCV000818105 |
2125 | L>P | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001290943 rs1597843129 |
2125 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000168394 rs786204236 CA334719 |
2125 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597843145 CA399012857 RCV002354939 COSM1610056 COSM1610055 |
2126 | V>A | liver Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1597843145 RCV001242168 |
2126 | V>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399012853 rs1567617114 RCV000697632 |
2126 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002509314 RCV000477330 RCV002354618 RCV001545875 CA8487340 rs200022550 RCV000218420 |
2127 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001317785 rs2069690351 |
2130 | I>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567617129 RCV000700604 RCV002360796 RCV001008835 |
2133 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069690617 RCV001298489 |
2133 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290851 rs1597843186 RCV003160170 RCV003160171 RCV001009604 |
2134 | C>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632277 CA399012912 rs1555534766 |
2134 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399012917 rs1555534770 RCV002360520 RCV000632396 |
2135 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555534767 CA399012914 RCV001858319 RCV002317227 |
2135 | T>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555534767 CA399012916 RCV002354940 |
2135 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001071617 rs2069691007 |
2136 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069691055 RCV001040061 |
2137 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002365983 RCV001217579 rs2069691114 |
2138 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069691314 RCV001061293 |
2141 | F>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224776 RCV001352920 rs2069691466 |
2142 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214866 CA10580378 rs876658896 RCV001306442 |
2142 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402886 RCV002314852 CA399012964 RCV000497060 |
2142 | S>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399012971 RCV000530481 rs1555534775 |
2143 | E>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059734 rs2069703452 |
2144 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597843658 RCV000818254 CA399013001 |
2145 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399013005 RCV000791713 rs1597843675 |
2146 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399013004 RCV002354943 rs1597843675 |
2146 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238001 CA399013007 RCV002354944 rs1597843678 |
2146 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003153869 CA399013013 rs1555534859 RCV000822979 |
2147 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597843705 CA399013017 RCV002354946 |
2147 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555534859 RCV000632310 CA399013011 |
2147 | Q>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597843700 RCV002354945 CA399013015 |
2147 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8487357 rs770993581 RCV000706893 RCV002352219 |
2148 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1135402887 RCV000497203 |
2151 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217778 CA10580379 rs876658495 |
2154 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002356815 RCV000497056 rs1135402888 |
2155 | E>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM28439 rs768464936 COSM1382184 RCV001043556 COSM1382185 CA8487360 RCV002363588 |
2156 | F>L | kidney Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000707139 CA8487361 rs774161532 |
2157 | S>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001062979 rs2069704625 RCV001054559 |
2162 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472491 rs1060500338 |
2163 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1353492847 RCV001037169 |
2163 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038423 CA399013121 rs1353492847 RCV002363562 |
2163 | L>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000805954 rs1353492847 CA399013122 |
2163 | L>W | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_002664 rs137854551 RCV000000367 CA251446 |
2164 | L>M | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2069704731 RCV001047592 RCV003160364 |
2167 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597843782 RCV001060490 RCV002354947 |
2168 | S>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069704816 RCV001226623 |
2170 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066609 rs2069704915 |
2172 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203806 RCV000167268 |
2174 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069705000 RCV001054391 RCV002365703 |
2174 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555534865 RCV000559914 CA399013196 |
2174 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492275 rs1131691071 |
2176 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069705203 RCV001041057 |
2176 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069705362 RCV001223431 RCV002269348 |
2176 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002365923 RCV001205544 rs2069705304 |
2176 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069705474 RCV001290829 |
2178 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681208 rs878853908 RCV002317755 RCV000230895 CA10583518 |
2179 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA399013228 RCV000535808 RCV002358456 rs772639479 |
2179 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001237027 CA8487363 rs772639479 |
2179 | R>L | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1597843836 RCV000803987 |
2180 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816999 rs1597843853 RCV002352436 |
2181 | S>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497143 rs1135402889 |
2182 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989819 rs876659768 RCV002354896 CA399013250 |
2182 | Y>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA645373106 rs1135402890 RCV000497242 |
2182 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002357006 RCV001234450 rs2069705839 |
2182 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069706142 RCV001237309 |
2183 | R>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069706142 RCV002357108 RCV001305399 |
2183 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1520756 rs1597843887 RCV002354950 COSM1520757 CA399013256 |
2184 | D>N | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1131691091 RCV001390544 CA399013274 RCV000492769 |
2186 | S>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001317627 rs765867354 |
2186 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399013277 rs1555534876 RCV000546182 |
2187 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM977496 RCV002317260 COSM977495 CA399013289 rs1555534877 |
2188 | S>F | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001300043 rs2069706766 |
2189 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691076 RCV000492662 |
2190 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765598479 RCV002354954 CA8487367 |
2191 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399013305 rs765598479 RCV000698493 |
2191 | S>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001057421 rs754630324 CA8487366 |
2191 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758917402 RCV001056243 COSM1167908 CA399013311 COSM1167909 |
2192 | Y>* | Neurofibromatosis, type 1 skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV002354955 RCV001043155 CA399013306 rs267606598 |
2192 | Y>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000000368 rs267606598 VAR_002665 CA251450 |
2192 | Y>N | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000497049 rs1135402891 CA399013315 |
2193 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000709421 rs1135402891 CA399013314 |
2193 | E>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204066 rs2069707503 |
2194 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326623 rs2069707550 |
2194 | R>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002244961 rs1131691084 RCV002476110 RCV000492123 RCV001001171 RCV002367782 RCV001856953 RCV000560704 |
2195 | E>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597843959 CA399013329 RCV001341033 RCV002354956 |
2195 | E>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372169109 CA10580381 RCV000534588 RCV000222301 |
2196 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV002365769 rs2069707755 RCV001067716 |
2197 | F>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597843976 RCV002354959 CA399013353 |
2198 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317271 CA399013349 rs1555534882 |
2198 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402892 RCV000497137 |
2201 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069708160 RCV001244392 |
2203 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399013423 RCV001054581 RCV002354960 rs1597843996 |
2204 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8487373 RCV000565133 rs781167415 |
2206 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001305569 rs2069708499 |
2207 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399013478 rs1555534886 RCV000583995 RCV000756428 |
2208 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399013480 rs1555534886 RCV000709422 |
2208 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399013515 RCV002354961 RCV002489527 rs886052801 |
2210 | L>F | Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002363106 rs1597844075 RCV000812034 CA399013542 |
2212 | I>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622330 RCV000214452 RCV000206546 CA350568 RCV001762437 RCV002503806 |
2213 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069716487 RCV001227032 |
2215 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660096 rs1555534913 |
2216 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597844556 CA399013680 RCV000804594 |
2216 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001592865 CA399013678 RCV000686934 rs1567617669 RCV002360719 |
2216 | C>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632372 CA399013669 rs757736155 RCV002377362 |
2216 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000798513 CA8487391 RCV002360941 rs757736155 |
2216 | C>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000220275 RCV001214304 rs876658255 CA10580383 |
2217 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203831 RCV000167308 RCV003162718 RCV000632295 CA197980 |
2219 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399013729 rs1567617676 RCV000692418 |
2219 | D>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069717157 RCV001202221 |
2220 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399013738 rs781284066 RCV000813126 |
2220 | I>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000796919 CA8487393 rs781284066 |
2220 | I>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_021764 CA219631 rs199474776 RCV000059215 |
2221 | P>A | NF1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA193084 RCV000681126 rs745945481 RCV002362859 RCV000205816 RCV001002410 RCV000165324 |
2222 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000166122 RCV000472540 rs369803831 RCV001582655 RCV002372050 RCV002505211 CA195062 |
2222 | T>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000548014 rs1555534917 |
2223 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069717621 RCV001290890 |
2223 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660097 CA399013798 rs1555534918 RCV001662722 |
2223 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001040951 rs1192120725 COSM1666986 RCV002315787 CA399013784 |
2223 | C>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs1555534919 RCV000660098 |
2224 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001857762 RCV000217076 CA8487395 rs749567006 |
2224 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001290894 RCV001092512 rs2069717916 |
2225 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1520755 RCV000579375 RCV000660099 CA399013829 COSM1520754 rs1193716348 RCV002377200 |
2225 | W>* | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV003165566 CA10580386 RCV000214913 RCV001047245 rs876659371 |
2227 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs993364800 RCV002352208 RCV000704970 CA289387425 |
2227 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1485756462 RCV001204985 |
2227 | D>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375334 RCV001290921 rs2069718249 |
2228 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002354963 rs1597844653 CA399013899 RCV001862324 |
2229 | W>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500342 CA16615567 RCV000492440 RCV002365593 RCV000476768 |
2229 | W>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069718437 RCV001221571 |
2229 | W>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002314941 rs1024484381 CA289387433 RCV000541011 |
2231 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002366009 CA399013941 rs1597844673 RCV001224138 |
2232 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035432 rs2069718829 RCV002258088 |
2233 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459163 rs1060500268 |
2234 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567617727 CA399013953 RCV002360836 RCV000707240 |
2234 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1567617727 RCV000695182 CA399013952 |
2234 | Q>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399013955 rs1597844689 RCV001320778 RCV002354966 |
2234 | Q>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069719031 RCV001236229 RCV002366046 |
2235 | R>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069724582 RCV001002748 |
2236 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069724620 RCV001002748 |
2237 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054836 RCV002365707 rs2069724756 |
2238 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399013993 RCV002315723 rs1555534947 |
2238 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492292 rs1131691093 CA399014000 |
2239 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1597844989 RCV000819280 CA399014002 |
2239 | Q>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211931 rs2069724925 |
2240 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290831 rs2069725054 |
2241 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702448 rs1567617849 |
2241 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555534950 RCV000632291 |
2243 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000813831 rs1597845013 RCV001593007 CA399014041 |
2245 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399014076 rs1567617869 RCV000693517 |
2250 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399014072 rs1208488322 RCV001316386 |
2250 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001070760 rs2069725866 |
2251 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002354969 rs1597845056 CA399014091 |
2252 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580387 RCV000214280 rs876659295 COSM1189437 COSM1189438 RCV000704044 |
2253 | G>E | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1361250850 CA399014100 RCV003160463 RCV001057747 |
2254 | C>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2069726396 RCV001218018 |
2255 | I>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223234 COSM1324055 RCV001009581 CA10580388 RCV000461033 COSM215676 rs876658541 RCV000578739 |
2258 | R>* | ovary Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000164632 RCV003162693 RCV002498815 CA191443 RCV001550602 rs786202030 RCV000709423 RCV001030640 |
2258 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA399014135 RCV002354970 rs1597845104 |
2259 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001770170 RCV000221561 RCV000539473 rs876658775 CA10580389 |
2260 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555534952 CA658824587 RCV000660103 |
2261 | H>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750869272 RCV001303096 |
2261 | H>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA215745 rs201336602 RCV000034586 RCV000221666 RCV001212035 |
2261 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001775687 rs750869272 CA8487425 RCV002372233 RCV000226539 RCV000219247 |
2261 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs997781719 CA289387766 RCV001350138 RCV002377490 |
2262 | G>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV002466536 RCV000694164 CA399014149 rs1392981001 RCV002315707 |
2262 | G>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001310036 rs2069727121 |
2263 | Q>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761213794 RCV000681224 CA8487426 RCV000474611 RCV002313159 |
2264 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs761213794 RCV002369813 RCV000681042 CA399014161 |
2264 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000791238 rs1597845155 |
2265 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500258 RCV000474917 CA16615672 |
2265 | K>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500258 CA399014170 RCV000690540 |
2265 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580390 RCV000219416 rs876659381 RCV001318207 |
2267 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555534957 RCV002317195 CA399014185 |
2267 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055433 rs2069727641 |
2268 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555534961 CA399014196 RCV001824832 RCV002315704 RCV000819969 |
2269 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067706 rs1555534961 |
2269 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs562367786 RCV001582607 RCV003162591 RCV000474759 CA169320 RCV000132133 |
2269 | R>H | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1135402893 RCV000497240 |
2272 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000463991 CA16615576 rs1060500344 |
2273 | K>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201734 rs1060500373 CA399014225 RCV000497102 |
2273 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492274 CA399014223 rs1060500344 RCV000735821 |
2273 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069742248 RCV001348976 |
2274 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555535023 RCV000632297 CA399014239 RCV002360517 |
2274 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069742393 RCV001239799 |
2275 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290798 rs2069742524 |
2277 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812108 rs1597845918 CA399014260 |
2277 | S>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069742717 RCV001227040 |
2278 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660104 rs1555535027 |
2278 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820767 rs1597845926 |
2279 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573877 rs144287929 RCV000632445 CA289388306 RCV002367973 |
2279 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000543634 CA8487440 RCV002367784 rs773858629 |
2280 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001232503 rs2069743106 |
2281 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069743252 RCV001061696 |
2281 | G>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207863 rs2069743464 |
2282 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069743547 RCV001218224 |
2282 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172246 rs2069743612 |
2283 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555535042 RCV000536640 |
2284 | T>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794410 CA399014308 rs1597845953 |
2284 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632303 rs747881072 RCV002315728 CA8487441 |
2284 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000520162 rs1555535032 RCV000492169 RCV001002584 RCV000786037 RCV001775098 RCV000196480 |
2285 | Y>missing | Neurofibromatosis-Noonan syndrome Ganglioglioma Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA190957 RCV000199249 COSM33676 RCV003162690 rs772295894 RCV000508444 RCV002314887 RCV000558457 RCV000851299 RCV000489640 RCV000763393 CA8487442 COSM33675 RCV000164442 COSM705652 |
2285 | Y>* | Ewing sarcoma Variant assessed as Somatic; impact. Neurofibromatosis, familial spinal Gastric cancer lung Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome soft_tissue [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555535044 RCV002317234 |
2286 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555535041 RCV000660105 |
2286 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069744324 RCV001306687 |
2287 | S>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688947 rs1567618250 |
2289 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000575548 rs876659722 CA10580393 CA399014352 RCV000220227 RCV002519707 |
2291 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497227 rs1135402895 |
2293 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA190906 RCV000818005 RCV000164422 rs786201902 |
2294 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002505550 RCV001862337 RCV002382251 CA399014386 rs1212022548 |
2296 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2069744859 RCV001299663 |
2296 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065703 rs2069744965 |
2297 | A>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069745140 RCV001055946 |
2298 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555535049 RCV002382252 CA399014395 |
2298 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597846070 CA399014398 RCV001862339 RCV002382253 |
2298 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA198079 rs786203861 RCV000167354 RCV000632431 |
2300 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000556980 rs1555535050 |
2301 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047709 rs2069745354 |
2301 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597846091 RCV002382254 |
2302 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000414957 RCV002379277 RCV001591052 CA16043526 RCV000550054 rs1057518807 |
2302 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cafe au lait spots, multiple [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000624412 rs1555535052 |
2306 | N>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597846111 RCV002360979 RCV000806510 CA399014450 |
2306 | N>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002382255 rs1597846107 CA399014448 |
2306 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782819 RCV002514754 RCV000132393 |
2307 | K>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057523533 RCV000421193 RCV000660106 CA399014457 CA16607563 RCV001861620 |
2307 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8487466 RCV001228878 rs775660003 RCV003166392 |
2308 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs2069789572 RCV001236687 |
2309 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399014852 RCV002528149 RCV002317265 rs1555535159 |
2309 | S>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001122580 RCV001082296 RCV000129366 RCV000214790 RCV000034587 RCV001122581 RCV002362613 rs148736217 RCV001122582 CA164285 |
2310 | P>L | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2069789708 RCV002258216 RCV001348727 |
2310 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA289390130 RCV000685904 RCV002360714 rs1044698498 |
2311 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000691515 CA399014869 RCV002477558 rs1567618937 |
2312 | H>Q | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001034970 rs2069790077 |
2313 | K>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069790028 RCV001054794 |
2314 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399014885 RCV001227864 rs1361377546 |
2315 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2069790360 RCV001290780 |
2316 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597847958 RCV002552403 RCV002382258 CA399014897 |
2316 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069790360 RCV001290917 |
2317 | W>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069790543 RCV001052717 |
2317 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338496 rs2069790642 |
2317 | W>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615678 rs1060500297 RCV000469992 |
2317 | W>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660110 rs1555535163 |
2318 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000416800 rs1057519369 |
2318 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069790813 RCV001290946 |
2318 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA339000 rs760528229 RCV000199968 RCV002381689 |
2318 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001202101 rs786203881 |
2319 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399014912 rs786203881 RCV002382259 |
2319 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167378 RCV000548645 rs786203881 CA198146 |
2319 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069790969 RCV001290947 |
2319 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209822 rs2069791087 |
2320 | V>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000527022 CA8487469 rs766323701 |
2320 | V>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002367669 RCV000494366 rs1131691267 CA399014936 RCV000660111 |
2323 | L>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492525 RCV000657644 rs1131691073 RCV002275061 CA399014940 RCV000763394 |
2324 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000800554 rs1597848038 RCV002370114 CA399014948 |
2325 | L>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229424 rs1374858930 |
2326 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069791654 RCV001040216 |
2326 | D>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069791742 RCV001218584 |
2327 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660112 rs1555535171 |
2327 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399014964 RCV002317196 rs1555535175 |
2327 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002391078 CA399014968 rs1597848066 |
2328 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002391079 CA399014975 RCV002551937 rs1597848075 |
2329 | N>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597848079 CA399014979 RCV000794619 |
2329 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290837 rs2069792041 |
2330 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597848085 RCV000793503 |
2330 | L>MR | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461250 rs1060500304 CA16615577 |
2331 | Y>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317162 rs1555535177 |
2332 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069792273 RCV001290797 |
2332 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002360521 CA399015004 RCV000632427 rs1555535178 |
2333 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399015009 RCV002391080 rs1597848100 RCV002551938 |
2334 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA195522 RCV000476769 RCV000166305 RCV001582656 rs370209920 RCV002498823 |
2335 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001240171 rs370209920 |
2335 | T>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000342216 CA10639342 RCV000394123 RCV000302270 rs886052802 RCV000289505 |
2336 | A>E | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660113 rs587781428 CA399015019 |
2336 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16615289 RCV000574340 RCV000458667 RCV002318498 rs587781428 |
2336 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA164180 RCV001572206 COSM1382198 RCV000129314 RCV000226712 RCV002362773 rs587781428 COSM35446 |
2336 | A>T | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs367734104 CA8487472 RCV002485756 RCV000704291 RCV002388334 |
2337 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA399015026 RCV000660114 rs1555535179 COSM1651759 |
2337 | L>R | Neurofibromatosis, type 1 soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1597848149 RCV000804369 CA399015028 |
2338 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069792818 RCV001298490 |
2338 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615680 rs1060500359 RCV003114579 RCV000456532 |
2339 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002374906 rs2069793099 RCV001051294 |
2340 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691083 RCV000492568 |
2343 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8487474 RCV000215076 RCV000681158 RCV000476324 rs781578248 |
2343 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000497033 rs1135402897 |
2344 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696643 RCV002316650 rs1555535189 CA399015115 |
2344 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002374894 TCGA novel RCV001048839 rs2069793613 |
2344 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000541627 rs1555535192 |
2345 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001343625 rs1555535195 CA399015132 |
2345 | L>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000798840 RCV002275134 rs1597848201 RCV002388462 |
2346 | D>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069793959 RCV001308542 |
2346 | D>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350605 rs2069793959 |
2346 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069794139 RCV001220222 |
2347 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464751 RCV002481366 rs1060500318 CA16615580 RCV002374745 |
2347 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002369949 rs1567619102 RCV000703599 CA399015167 |
2347 | S>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597848222 RCV002551941 RCV002400190 CA399015186 |
2348 | L>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615318 rs56013763 RCV000681044 RCV000469056 RCV002313160 |
2349 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8487476 rs56013763 RCV000704490 |
2349 | R>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs864622065 RCV003165487 RCV000218254 CA350646 RCV000206636 RCV000679405 |
2349 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000527811 rs864622065 RCV002316517 CA289390348 |
2349 | R>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2069794814 RCV001296309 RCV002366119 |
2350 | I>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399015199 rs1381254564 RCV001213909 RCV002282487 RCV002365959 |
2350 | I>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1441937734 CA399015235 RCV000793660 |
2352 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002503803 RCV000571459 CA350500 RCV000206473 RCV002317733 rs763082717 |
2352 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000166920 rs786203558 RCV000463024 |
2353 | D>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209125 rs2069795315 |
2354 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069795265 RCV001049746 |
2355 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555535399 RCV000632419 CA399015502 |
2355 | S>N | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA399015506 rs1567620376 RCV000708725 |
2355 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399015512 rs1555535402 RCV000562473 |
2356 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555535402 RCV001222236 |
2356 | P>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203596 RCV002515167 CA197179 RCV000166979 |
2357 | E>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_021765 RCV000059216 RCV001337282 CA219635 rs199474784 |
2357 | E>K | Neurofibromatosis, type 1 NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs2069865899 RCV001304722 |
2358 | E>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000625724 rs1555535403 |
2359 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702063 COSM977498 COSM977497 CA399015537 rs1567620390 |
2360 | F>C | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002366088 rs2069866250 RCV002269352 RCV001248434 |
2360 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218243 RCV001819906 rs2069866148 RCV003127694 RCV003163676 |
2360 | F>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1293010884 RCV002366186 CA399015545 RCV001322609 |
2361 | M>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1022562410 RCV002461291 CA289396096 RCV000541174 |
2361 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069866501 RCV001240915 |
2363 | I>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000229493 RCV000167434 rs137966859 RCV002510805 CA198298 |
2363 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000681167 RCV000632404 CA399015562 RCV002404749 rs1555535407 |
2364 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1567620403 RCV002495088 RCV000803764 RCV002360962 RCV001759534 CA399015561 |
2364 | R>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399015578 rs1597851311 RCV001862346 RCV002400193 |
2366 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349331 rs1597851311 |
2366 | P>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691082 RCV000492317 |
2368 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290840 rs2069867116 |
2369 | W>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461823 rs1060500286 CA16615319 RCV002365592 |
2369 | W>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563691 rs1555535416 |
2370 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA164404 RCV000129432 RCV000632288 rs587781479 |
2370 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069867387 RCV001290781 |
2371 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069867490 RCV001053552 RCV002245845 |
2371 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064844 rs2069867622 |
2372 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040241 RCV003160260 rs776506332 |
2372 | K>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000505852 rs1555535417 CA399015622 RCV000810918 |
2373 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066361 rs2069867738 |
2374 | M>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069867800 RCV001237293 |
2374 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597851343 RCV001229097 |
2375 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802640 rs1597851351 |
2377 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221026 rs1597851351 |
2378 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8487502 RCV000472853 rs775476318 RCV002402230 RCV001561736 |
2379 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001069874 rs2069868324 |
2380 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002400197 rs1597851364 CA399015676 |
2380 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069868519 RCV001041853 |
2381 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000233380 CA10583521 rs878853912 RCV002365179 |
2381 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001296822 rs2069868688 |
2382 | F>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146296921 RCV000707291 CA289396242 RCV002316631 |
2383 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001222473 rs2069868919 |
2384 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555535429 RCV000632301 CA399015701 |
2384 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823860 rs1555535434 |
2385 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001764713 RCV002367983 RCV000582880 rs1555535434 |
2385 | N>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002400199 rs1597851405 CA399015707 |
2385 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597851420 RCV000805980 |
2386 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555535439 CA399015718 RCV000660115 |
2386 | F>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796577 rs1597851418 CA399015715 |
2386 | F>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597851420 RCV001056416 |
2387 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001814203 rs1555535444 RCV000632306 CA399015728 |
2387 | N>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069869339 RCV001063949 |
2387 | N>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763556723 CA399015723 RCV002400200 |
2387 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_002666 | 2387 | N>del | NF1 [UniProt] | Yes | UniProt |
|
RCV002487708 rs1425642121 CA399015729 RCV000803080 |
2388 | F>I | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1425642121 RCV001320905 |
2388 | F>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399015748 RCV000693106 CA8487505 RCV000533009 rs751081026 |
2390 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555535448 RCV000660116 |
2390 | L>SA | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597851443 CA399015747 RCV002400201 |
2390 | L>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069869918 RCV001048205 |
2391 | V>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290984 rs2069870034 |
2392 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225398 rs1357330262 |
2392 | G>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399015755 RCV001346045 rs1357330262 |
2392 | G>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
rs2069870191 RCV001240463 RCV002366063 |
2393 | H>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2069870134 RCV001058331 |
2393 | H>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399015763 rs1597851468 RCV000821541 |
2393 | H>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555535452 RCV002317285 CA399015769 |
2394 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402899 CA399015773 RCV000497178 |
2394 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555535452 RCV000685159 CA399015771 |
2394 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067632 rs2069870374 |
2395 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399015776 rs1567620503 RCV000694208 |
2395 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851298 rs1597851489 CA399015784 RCV001858484 |
2396 | K>* | Ewing sarcoma Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001352460 rs2070073482 |
2397 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402900 RCV000701347 RCV000497028 RCV002367673 CA399015791 CA399015790 RCV001840618 |
2397 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002369952 rs777872719 RCV000704228 |
2398 | Y>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070073649 RCV001241172 |
2398 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691102 RCV000492661 |
2399 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002363160 RCV000821308 rs1597858362 CA399016671 |
2400 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002406575 RCV000692802 rs1567623421 CA399016669 |
2400 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399016676 rs1597858372 RCV001041452 RCV002409344 |
2401 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307756 rs1287571228 CA399016683 |
2402 | S>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2070074227 RCV001202028 |
2404 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536097 CA289400881 rs771706364 RCV001755806 RCV002314943 COSM283221 COSM283220 |
2404 | A>V | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2070074350 RCV001071742 |
2405 | I>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165705 CA194028 rs565708398 RCV001818383 RCV001548376 RCV000515215 RCV003162703 COSM2154456 RCV000196434 COSM2154457 |
2405 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome central_nervous_system Neurofibromatosis, familial spinal [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA399016717 RCV000815748 rs1597858407 RCV002372302 |
2408 | R>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399016723 rs1555536021 RCV002317185 RCV001220347 |
2409 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001533848 RCV002409346 CA399016727 RCV001301700 rs1597858415 |
2409 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615587 rs1060500372 RCV002374747 RCV000458879 |
2410 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500372 RCV001069478 |
2410 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070074822 RCV001070467 |
2411 | R>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689899 rs1567623439 |
2411 | R>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223023 rs876658245 |
2412 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399016749 rs775181940 RCV000550993 |
2413 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876659855 RCV001298520 |
2414 | H>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659855 CA10580401 RCV000219531 RCV001339713 RCV002472973 |
2414 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002374980 RCV001067409 rs2070075234 |
2414 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070075185 RCV001290788 |
2415 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597858445 RCV002409348 |
2416 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556425 rs1555536023 |
2417 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049234 rs2070075539 |
2417 | L>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8487532 RCV000534898 RCV001755807 RCV002413460 rs764022114 |
2418 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001546794 rs1597858459 RCV003166382 RCV000819137 |
2419 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071246 rs2070075481 |
2419 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223064 rs2070075780 |
2419 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597858484 CA399016787 RCV000795880 |
2420 | V>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219609 rs1597858484 |
2420 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052066 rs2070076088 |
2421 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070076040 RCV001054020 |
2421 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402901 RCV000497115 |
2421 | N>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA350447 RCV000217240 rs774339063 RCV000206406 RCV002247635 |
2421 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774339063 CA399016796 RCV000551775 |
2421 | N>T | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1567623480 RCV000697702 |
2422 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399016802 RCV000792916 rs1597858501 RCV002370067 |
2422 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070076467 RCV001233060 |
2423 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000226301 RCV000483665 rs878853913 |
2423 | H>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800327 CA8487533 rs761299521 RCV002370113 |
2423 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2070076529 RCV001784618 RCV001062061 |
2424 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555536029 RCV000570478 CA399016817 |
2424 | R>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039906 rs1555536030 RCV000599615 |
2425 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070076752 RCV002375131 RCV001203410 |
2425 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070077052 RCV001229118 |
2426 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567623508 CA399016833 RCV000770889 |
2426 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290796 rs2070076932 |
2426 | C>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858198 CA8487534 RCV002316598 rs767059035 |
2426 | C>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001205292 rs2070077277 |
2427 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567623519 CA399016841 RCV000702644 |
2427 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1230353186 RCV002409350 CA399016836 |
2427 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002372771 rs2070077385 RCV001041256 |
2428 | K>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402902 RCV002420267 RCV000497199 |
2429 | F>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070077732 RCV001204190 |
2430 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000508348 rs1555536035 COSM327916 CA399016860 COSM327917 RCV002527362 |
2430 | E>* | Neurofibromatosis, type 1 skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs876659449 RCV000221446 CA10580402 RCV002515646 |
2430 | E>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070077893 RCV002375215 RCV001223707 |
2431 | V>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319298 rs2070077965 RCV002375417 |
2432 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054296 rs1597858568 CA399016880 RCV002416293 |
2433 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002372051 RCV000166595 RCV000467083 CA196260 rs755749772 RCV001551525 |
2433 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002372307 rs1597858594 RCV001548109 RCV000816568 |
2435 | S>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375017 RCV001862716 rs1555536038 |
2435 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316518 RCV000525658 CA399016893 rs1555536038 |
2435 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659856 RCV001059500 |
2436 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000540234 RCV001582754 CA10580403 rs876659856 RCV000216718 |
2436 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070078716 RCV001221702 |
2437 | A>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198831 rs2070078591 |
2437 | A>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500385 RCV000472189 RCV001584129 CA16615290 |
2438 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10580405 RCV000218018 rs876660597 |
2438 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002551951 COSM705646 RCV002416297 COSM705647 rs1597858633 CA399016921 |
2439 | L>F | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002416295 CA399016916 rs1597858629 |
2439 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001294701 rs2070078996 |
2439 | L>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500300 RCV000472352 |
2441 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691113 RCV002311237 |
2441 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1085307506 RCV000489937 RCV001290811 |
2441 | A>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814809 RCV001056232 rs1597859558 |
2442 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809270 rs1597859566 |
2443 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000486904 RCV002420582 RCV000539017 rs1064794278 RCV000599149 |
2444 | T>missing | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071527 rs2070103253 |
2444 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135402904 RCV000497110 |
2445 | V>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567623931 RCV000756434 RCV001855873 CA399016970 |
2445 | V>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232993 CA10583524 rs878853915 |
2447 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853914 RCV000230201 CA10583523 |
2447 | E>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813051 rs1597859599 CA399016987 |
2448 | E>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781961 RCV003223613 RCV000227891 RCV000130340 |
2448 | E>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000414830 RCV000414562 rs786202457 RCV000999932 CA192953 COSM303898 RCV000532076 COSM24487 RCV000165277 |
2450 | R>* | Neurofibromatosis, type 1 autonomic_ganglia large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium soft_tissue haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002476229 COSM1382203 CA8487563 RCV000700485 rs533110479 COSM1382204 RCV002316616 |
2450 | R>Q | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.62e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000764115 CA348018 RCV002317738 RCV000571589 rs377662483 RCV000681043 RCV000203720 |
2452 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555536122 RCV001030641 CA399017010 RCV002461371 RCV002315828 RCV001368235 |
2452 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399017024 rs1555536127 RCV000632361 |
2454 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555536128 RCV000566428 CA399017032 |
2455 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002476219 rs201287021 CA399017040 CA197518 RCV000167111 RCV000632331 RCV002315788 |
2456 | K>N | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs863224664 RCV000681024 CA337764 RCV002315628 RCV000198278 |
2457 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002315778 rs768404575 CA8487564 RCV000632518 |
2457 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000472399 rs1060500335 |
2458 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070105179 RCV001290872 |
2458 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316519 RCV000552432 RCV001755808 CA399017049 rs1555536130 |
2458 | R>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302653 rs2070105352 |
2458 | R>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793465 CA399017069 rs1199046022 |
2461 | L>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2070105653 RCV001320908 |
2461 | L>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632505 CA399017068 rs1199046022 RCV002385987 |
2461 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1135402905 RCV000497195 |
2462 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002489003 RCV000466830 CA16615696 rs1060500302 |
2462 | L>P | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632330 RCV000166388 rs786203184 RCV001552078 RCV002381531 |
2463 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379623 rs2070105859 RCV001070276 |
2463 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597859696 RCV000813894 TCGA novel CA399017090 RCV002422810 |
2464 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV000164876 RCV000632484 rs786202180 |
2465 | D>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811661 rs1597859719 |
2465 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA195510 rs143474365 RCV000166302 RCV000460098 RCV002381285 RCV000034589 |
2465 | D>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000560014 CA399017098 rs748027595 |
2466 | I>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771915484 RCV000529095 CA8487565 RCV002384061 |
2466 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs748027595 RCV000764116 RCV000200710 RCV000575889 RCV002317726 RCV000681161 CA339497 |
2466 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001037161 rs1555536135 |
2467 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399017107 rs1555536135 RCV000686179 RCV002315786 |
2467 | S>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565472 CA8487566 RCV001562519 RCV000543997 rs151211377 |
2468 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1281096294 RCV000685184 RCV002386158 CA399017120 |
2469 | E>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002317313 CA399017121 RCV002530314 rs1281096294 |
2469 | E>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1135402906 RCV000497044 |
2470 | N>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580407 rs876660126 RCV001853611 RCV000219703 |
2471 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821016 rs1597859768 |
2472 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202184 RCV000799720 CA399017141 |
2472 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000164883 RCV000560793 CA192008 rs786202184 |
2472 | P>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1581306 CA399017143 rs1555536144 COSM1581307 RCV002420368 RCV000534708 |
2473 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001247567 rs2070107315 |
2474 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070107259 RCV001068506 |
2474 | D>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1405212000 RCV001202057 RCV002379758 |
2474 | D>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691107 RCV000492444 |
2475 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597859789 RCV000793428 CA399017160 |
2475 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316520 CA8487567 RCV000549338 rs770532573 |
2475 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs181397225 RCV000632440 CA399017169 |
2476 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs864622745 RCV000204170 RCV002315639 RCV000681272 CA348413 |
2476 | Y>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10580409 RCV000221512 rs876658722 RCV000632316 |
2477 | P>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658722 RCV001227169 |
2477 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196442 CA336415 RCV001775662 RCV002415853 RCV001026326 rs759307070 |
2478 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA166814 rs587782119 RCV000130645 |
2479 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8487571 RCV002500714 rs371151718 RCV001778803 RCV000217787 RCV000216591 RCV000693913 |
2480 | H>R | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002317221 rs1555536166 CA399017188 |
2480 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003162699 CA193266 RCV001361157 RCV000782210 RCV000165393 rs786202540 |
2481 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002478816 rs876660614 RCV000460016 CA10580410 RCV000219000 |
2482 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000790480 rs1597859854 |
2483 | P>missing | Neurofibroma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166513 RCV001242476 rs2070108464 |
2483 | P>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002381808 RCV000812157 rs1291550449 CA399017209 |
2483 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2070108683 RCV001290871 |
2485 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066507 RCV001815470 rs2070108811 |
2485 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399017224 RCV000798388 rs1597859871 |
2485 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002420688 RCV000632278 CA289401951 rs1022605462 |
2485 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2070166483 RCV001240141 |
2486 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000548130 CA8487573 rs752162999 RCV002420369 RCV002483372 |
2486 | R>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2070166547 RCV001215976 |
2487 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038435 rs2070166606 |
2487 | T>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070166801 RCV001221371 |
2488 | L>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660345 RCV000218255 CA10580411 |
2488 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555536338 RCV002469340 RCV001068591 |
2489 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555536338 RCV000632329 CA399017414 |
2489 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622249 CA350307 RCV000206241 RCV000223637 |
2489 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000507597 COSM705644 CA399017446 rs1555536340 RCV001205875 COSM705645 |
2492 | Q>* | lung Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002379597 rs2070167112 RCV001065972 |
2493 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224493 RCV000584793 CA336766 RCV002381682 RCV000196878 |
2494 | W>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230445 rs2070167232 RCV003166404 |
2494 | W>* | Neurofibromatosis, type 1 Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164602 CA191368 COSM1167948 rs757245615 RCV000681280 COSM1167947 RCV002478504 RCV000465877 RCV003162692 |
2495 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome skin Neurofibromatosis, familial spinal [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002460944 CA196405 RCV002492671 RCV000198334 rs371773406 RCV000166659 |
2496 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002379820 rs371773406 RCV001218135 |
2496 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316645 CA399017500 rs1555536347 RCV001203674 |
2497 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002384484 RCV001347414 rs2070167780 |
2498 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1269264795 RCV002416303 CA399017505 |
2498 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555536352 RCV002315816 RCV000632319 |
2499 | G>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300875 rs375176282 |
2499 | G>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001753687 RCV000230838 rs375176282 CA10583526 |
2499 | G>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001064919 rs2070167904 |
2499 | G>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325983 RCV002416304 rs375176282 CA8487600 |
2499 | G>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2070168165 RCV001223506 |
2500 | S>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555536358 RCV000625607 |
2502 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562336 rs1555536357 CA399017528 RCV000803731 |
2502 | G>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555536359 CA399017538 RCV003139875 RCV001067937 RCV002317300 |
2503 | Y>* | Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001360726 RCV002315862 rs876658333 CA399017541 |
2504 | L>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001224961 RCV002416306 rs876658333 CA399017540 |
2504 | L>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10580412 rs876658333 RCV000219375 |
2504 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs786202955 CA194823 RCV000166035 RCV001045536 |
2505 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002422618 rs786202955 RCV000709424 CA399017545 |
2505 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA399017551 rs1567625126 RCV000699920 |
2505 | A>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs149055633 RCV000764117 VAR_021766 RCV002381447 RCV001818315 RCV000130522 CA166586 RCV000421743 RCV000475666 |
2507 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002479221 RCV002416309 RCV001347934 CA8487604 rs762169098 |
2508 | Y>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000539633 CA191831 RCV000164814 rs786202146 |
2509 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001301069 rs786202146 |
2509 | P>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000272345 RCV001557496 RCV000364796 CA10648998 RCV002418184 rs886052803 RCV000325018 RCV000331101 |
2509 | P>S | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs886052803 RCV002416310 CA399017583 |
2509 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs145794301 CA190557 RCV000554510 RCV000164293 RCV002390396 |
2510 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2070169785 RCV001061534 |
2511 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002498574 VAR_022257 RCV001082666 RCV000130554 rs2230850 CA161070 RCV000121639 RCV000680358 |
2511 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002420689 RCV000632279 RCV001821789 RCV002483787 rs766496842 CA8487606 |
2512 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2070170042 RCV001049670 |
2513 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290898 rs2070170274 |
2513 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070170345 RCV001048322 |
2513 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301516 rs1597862168 |
2514 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070170648 RCV001290844 |
2515 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246981 rs2070170553 |
2515 | S>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597862174 RCV000803692 RCV002388502 CA399017642 |
2515 | S>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8487607 rs753977783 RCV001290818 |
2516 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10580413 RCV001836756 rs866445127 RCV000505900 RCV002494586 RCV000218957 RCV000579098 COSM133076 RCV000457951 |
2517 | R>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Neurofibromatosis, familial spinal [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV002317229 RCV000800263 CA8487609 rs755260088 |
2517 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000464937 CA16615295 rs1060500265 |
2518 | A>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399017667 RCV002424646 RCV000694233 rs1567625163 |
2518 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001206496 rs2070171212 |
2522 | M>I | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002427458 CA399017708 rs1597862205 |
2522 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061113 rs2070171459 |
2525 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853917 RCV000228812 |
2528 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001037802 rs2070171679 |
2528 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632341 rs1555536370 CA399017793 RCV002388016 RCV002499043 |
2529 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399017801 RCV000694353 rs1567625190 |
2530 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399017811 RCV003126877 rs1555536372 RCV000632364 |
2531 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2070172055 RCV001048472 |
2531 | Q>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399017822 rs1555536373 RCV002476215 RCV000802764 RCV000567674 |
2532 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000480111 RCV000130730 RCV001122668 RCV000034590 RCV000989823 RCV001122669 CA166994 RCV001122667 rs148154172 RCV002390138 |
2532 | A>V | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8487612 RCV000575713 rs779737221 RCV001557274 RCV000685211 |
2534 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2070172476 RCV001232811 |
2535 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001388194 RCV001092516 rs2070172428 |
2535 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064116 rs2070172706 |
2536 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466333 rs1060500327 |
2536 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046731 rs1597862283 |
2536 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580414 rs876658670 RCV000215642 |
2537 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000793924 rs1597862293 |
2539 | G>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001093339 RCV002393352 rs2070173038 |
2539 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002427460 rs1597865736 CA399017969 RCV001048240 |
2539 | G>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555536632 RCV000632300 CA399017972 RCV002388015 |
2540 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002388167 rs1555536633 CA399017974 RCV000660117 |
2540 | T>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070273084 RCV001230228 |
2543 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580416 RCV000793047 rs876659530 RCV000222761 |
2545 | D>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393569 rs2070273405 RCV001229324 |
2548 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622266 RCV000206618 CA350632 RCV001762433 RCV000215851 |
2548 | I>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002528012 rs1555536636 CA399018031 RCV000567689 |
2548 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001038952 rs2070273520 |
2549 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1382220 RCV000164391 CA190838 RCV001420818 COSM1382221 RCV000553260 rs767458044 RCV002281063 |
2549 | S>P | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000992435 rs1597865773 RCV002391050 |
2550 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399018064 RCV003162811 rs1555536644 RCV000632428 |
2553 | A>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043157 rs1555536644 RCV002393214 |
2553 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388280 rs1567626632 RCV000697656 |
2555 | K>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203792 CA197835 RCV002516517 RCV000167247 RCV001295743 |
2555 | K>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002427461 CA399018085 rs1597865787 RCV001053045 |
2556 | R>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580417 RCV002519681 RCV000215768 rs876659035 |
2556 | R>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2070273995 RCV001222752 |
2557 | Q>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070274119 RCV001340138 |
2559 | M>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8487633 RCV002315779 RCV001303046 rs779373258 |
2559 | M>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001290924 rs2070274228 |
2561 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002317164 rs1555536647 CA399018125 |
2562 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001298266 rs2070274448 |
2562 | G>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002315845 CA399018132 RCV002528993 rs1555536648 |
2563 | I>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002478508 RCV000681135 RCV000693796 CA193316 RCV003162700 rs786202548 RCV000165409 |
2565 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316621 rs786202548 CA399018144 |
2565 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754511534 CA8487636 RCV000816644 |
2567 | P>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10580418 RCV000660118 rs754511534 RCV002509324 RCV000217495 |
2567 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754511534 CA8487635 RCV000632276 |
2567 | P>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002289949 rs1060500295 RCV002424563 RCV000660119 |
2568 | K>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429475 RCV000476564 rs1060500295 |
2568 | K>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068559 rs2070275038 |
2569 | M>V | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA191645 RCV000164725 rs786202086 |
2570 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399018183 rs1597865842 RCV000812626 RCV003106074 |
2571 | R>K | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399018189 rs1555536652 RCV002315802 RCV001858129 |
2572 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043724 rs2070275358 |
2573 | A>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555536654 RCV000632492 CA399018195 |
2573 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002390637 rs1597865850 CA399018211 RCV000811268 |
2575 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070275502 RCV001068748 |
2576 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597865858 RCV000989824 |
2576 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781834 CA165750 RCV000130125 |
2579 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002399593 RCV000165823 CA194270 rs757632129 RCV000205551 RCV001837466 |
2581 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399018315 RCV002427465 rs1597866308 |
2581 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA165085 RCV000129784 rs587781651 |
2582 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135402907 RCV000497251 RCV001171793 |
2583 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555536683 RCV000543723 |
2583 | R>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399018349 rs1597866331 RCV001873416 RCV002427466 |
2584 | I>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000660120 rs1555536685 RCV001242719 |
2585 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001337705 RCV001550929 CA8487660 rs769876049 |
2586 | S>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597866350 RCV000799346 |
2587 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691090 CA399018374 RCV000492244 RCV000660121 |
2587 | S>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000756427 RCV002317216 COSM1563908 rs1555536687 COSM41792 CA399018381 RCV001387789 |
2588 | Q>* | Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002528150 RCV002317316 CA399018390 COSM41793 rs1555536689 |
2589 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA167065 RCV000284348 RCV000406464 RCV000337150 rs587782168 RCV000278349 RCV000130765 |
2589 | Q>H | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000850065 rs1597866378 |
2590 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002315766 rs1060503906 RCV002476218 CA399018408 |
2590 | H>Q | Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002316624 RCV002476230 CA399018403 RCV001349097 rs1555536690 |
2590 | H>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399018428 rs1597866394 RCV002427470 |
2592 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749460130 RCV000564087 RCV002315771 CA8487662 RCV001049026 |
2592 | H>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA399018432 rs1555536692 RCV001858323 RCV002317281 |
2592 | H>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372787215 RCV002491121 RCV001040889 CA8487663 RCV002315758 |
2594 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3378126 RCV000688204 RCV000217806 CA10580421 COSM3378125 rs774781617 RCV000681019 |
2594 | R>H | Neurofibromatosis, type 1 pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA8487664 rs774781617 RCV001043200 RCV002481837 RCV002427471 |
2594 | R>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002466589 RCV002397654 RCV000807987 rs1597866414 |
2595 | K>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497072 rs1135402908 |
2596 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070287917 RCV001208467 |
2597 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM34179 rs1567626945 RCV000702825 CA399018476 |
2597 | S>* | Neurofibromatosis, type 1 soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1382226 CA348889 COSM1382227 RCV000204686 rs864622364 |
2597 | S>P | Neurofibromatosis, type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs760531845 CA8487665 RCV002316523 RCV000553873 |
2598 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000198354 rs863224837 |
2600 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070288287 RCV001216512 |
2601 | S>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150657839 RCV001854688 RCV000215696 CA10580422 |
2602 | N>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002431867 CA399018519 rs150657839 RCV000632272 |
2602 | N>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002427472 CA399018532 rs1597866454 |
2603 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000704786 CA399018529 rs766135206 RCV002397474 |
2603 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001026778 RCV000632362 RCV002431868 rs766135206 RCV003129952 CA8487666 |
2603 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002404588 RCV000583049 rs1555536701 |
2604 | L>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002316524 RCV001786397 RCV000532453 CA8487667 rs776602307 |
2604 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002434402 rs1597866483 CA399018568 |
2607 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070288954 RCV001049444 |
2608 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070289110 RCV001238102 |
2608 | E>G | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002552417 CA399018574 rs1597866487 RCV002434403 RCV001824915 |
2608 | E>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167335 RCV000681023 RCV000693562 rs786203848 CA198031 |
2609 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000681176 rs786203848 RCV000632313 CA399018589 |
2609 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8487668 RCV000822726 RCV002408992 rs759424718 |
2611 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1131691129 RCV002434406 RCV001862383 |
2613 | P>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750972729 RCV000214002 CA10580423 RCV000681193 RCV003165550 RCV000460663 |
2613 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002304230 rs750972729 CA399018628 RCV002434405 |
2613 | P>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002317272 rs138839077 RCV000804041 CA8487669 |
2613 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs138839077 CA399018623 RCV002551982 RCV002434404 |
2613 | P>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs2070290006 RCV001227822 |
2614 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691129 RCV002311256 RCV000497158 |
2614 | K>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290828 rs2070290107 |
2614 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002265828 rs1555536710 RCV002413807 CA399018640 RCV000632444 |
2614 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781502 RCV002408636 CA164492 RCV000129477 RCV000681041 RCV001083959 |
2614 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2070290251 RCV001317014 |
2615 | I>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399018648 rs1555536711 RCV000535343 |
2615 | I>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597866554 RCV001027651 |
2616 | Q>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555536713 RCV001193427 |
2616 | Q>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066802 RCV002316644 CA399018654 rs1555536713 |
2616 | Q>E | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000219619 CA10580425 RCV000801411 rs876659308 |
2616 | Q>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702910 RCV000166711 COSM977506 CA196545 RCV001565304 rs375990655 |
2617 | A>V | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA dbSNP gnomAD |
|
rs916881278 RCV000795014 CA289407732 |
2619 | L>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2070290843 RCV001290891 |
2621 | T>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1471144465 RCV002434407 CA399018708 RCV001862385 |
2622 | V>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002315760 rs1555536721 RCV000681297 CA399018714 RCV001060888 |
2623 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045036 rs1597866802 |
2624 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597866802 RCV002434409 RCV001873422 CA399018754 |
2624 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001294793 RCV002411936 rs2070296220 |
2625 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069730 rs1555536748 RCV002411608 |
2626 | L>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399018775 rs1555536748 RCV000632275 RCV002315840 |
2626 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001775978 rs1567627155 RCV000706344 CA399203392 |
2630 | T>A | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438658 RCV000632368 CA399203394 RCV002499044 rs1283946778 |
2630 | T>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000222408 VAR_002667 CA219639 RCV000059217 RCV000764118 RCV000234372 RCV003162465 rs199474793 |
2631 | T>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal NF1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002434410 CA399203407 COSM48917 rs1277560744 RCV001873423 |
2632 | D>E | lung Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1597866854 RCV001009585 |
2633 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806033 rs750754640 CA8487691 RCV002406797 |
2633 | E>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756567782 RCV000791670 RCV002406722 CA8487692 |
2634 | F>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002434411 rs1597866872 |
2636 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs567988442 CA289710951 RCV000660124 RCV002440406 |
2636 | Q>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399203433 RCV000815711 rs1597866867 |
2636 | Q>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM510736 rs786201367 RCV001808436 RCV000515434 COSM1382232 RCV000196216 CA188413 RCV001009586 RCV000599610 RCV000163482 |
2637 | R>* | Neurofibromatosis-Noonan syndrome Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 large_intestine Hereditary cancer-predisposing syndrome central_nervous_system Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002409430 rs560262404 CA399203440 RCV001051059 |
2637 | R>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000458322 rs560262404 RCV000129502 RCV002408637 CA164550 RCV000679416 |
2637 | R>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA399203447 RCV002406763 rs1597866892 RCV000798984 |
2638 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518362 CA399203448 RCV002434412 |
2639 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518362 RCV002488855 RCV000689208 CA16042977 RCV000414031 |
2639 | L>V | Neurofibromatosis, type 1 Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000817434 rs1597866897 |
2640 | Y>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615330 rs1060500333 RCV000456882 |
2640 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000816530 CA399203457 rs1597866901 |
2640 | Y>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567627210 RCV000685178 |
2641 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597866921 RCV000989825 |
2641 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002518240 rs876658205 RCV000221457 CA10580427 |
2641 | E>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702393 rs1567627217 CA399203474 |
2642 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002406845 RCV000814093 CA289710952 rs766494934 |
2644 | A>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208577 rs2070298197 |
2644 | A>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231767 rs878853918 |
2645 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1487025591 RCV002434414 RCV001862388 RCV001288254 CA399203512 |
2648 | V>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555536761 RCV000797741 CA399203516 |
2649 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555536761 CA399203515 RCV000533982 |
2649 | V>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069083 rs2070298589 |
2650 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754443238 RCV003166119 CA8487693 RCV000794540 |
2650 | F>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8487694 rs367858662 RCV002411807 RCV001217611 |
2651 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000796553 rs1555536765 |
2652 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001370985 CA399203536 RCV001539930 RCV002434415 rs1597866986 |
2652 | K>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548765 rs1555536765 |
2653 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002551984 RCV002508278 CA399203554 rs1597867008 RCV002434416 |
2654 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757563 rs1567627268 RCV000796554 |
2655 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806653 rs1597866998 |
2655 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002315740 CA399203555 RCV001306276 rs587781791 |
2655 | P>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2070299592 RCV001049036 |
2655 | P>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000679417 RCV000234554 rs587781791 CA10583529 RCV000569910 RCV001818571 |
2655 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587781791 RCV001057636 CA165611 RCV000130048 |
2655 | P>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1597867034 RCV000799358 CA399203566 |
2657 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319566 rs1555536868 |
2658 | H>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555536868 COSM1651757 CA399203584 RCV000497824 |
2658 | H>Y | Neurofibromatosis, type 1 soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1597868051 RCV000807261 CA399203592 |
2659 | N>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000754775 rs1567627709 CA399203606 |
2661 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202579 RCV002311253 CA399203623 RCV000794119 |
2663 | S>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222036 CA193440 RCV000165454 rs786202579 RCV001060065 |
2663 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216995 rs1555536882 |
2664 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420692 RCV000632421 rs1555536882 |
2664 | K>* | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA |
|
rs1060500377 RCV000468840 CA16615331 |
2664 | K>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315750 CA399203639 rs1555536888 |
2666 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203669 RCV003162717 RCV000806499 RCV000167080 CA197445 |
2667 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001242093 rs2070326034 |
2668 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399203650 RCV001062187 rs1060503905 |
2668 | L>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002433987 RCV000815695 rs1060503905 CA399203651 |
2668 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1131691074 CA399203665 RCV000492140 |
2670 | S>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002551989 rs1597868102 RCV002434420 CA399203663 |
2670 | S>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070326229 RCV002418666 RCV001202340 |
2671 | L>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399203671 rs1207124870 RCV002434421 RCV003117704 |
2671 | L>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000707017 rs1567627751 CA399203685 |
2673 | Q>* | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000807857 CA399203691 rs1597868123 |
2674 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399203699 RCV002445170 rs1597868132 |
2675 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322255 rs1555536902 RCV002317201 CA399203707 |
2676 | N>D | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772757623 RCV001040003 |
2677 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567627755 RCV000696159 |
2677 | L>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399203720 rs1597868148 RCV002445172 |
2678 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA166728 rs146315101 RCV000430382 RCV001797634 RCV001082766 RCV001128480 RCV000130596 RCV001128481 RCV001128479 |
2681 | I>V | Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1184642602 RCV002552421 CA399203759 RCV002445173 |
2682 | H>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001071679 rs2070327151 |
2683 | G>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399203771 RCV000632521 rs1555536913 |
2684 | I>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597868171 RCV000816567 |
2685 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445174 CA289711056 rs890017184 |
2686 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000492474 rs1060500387 RCV000471092 RCV001008791 |
2687 | S>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070327470 RCV001059877 |
2687 | S>C | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801020 rs1555536916 CA399203823 RCV000576147 |
2687 | S>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567627780 CA399203833 RCV000692151 |
2688 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555536923 RCV000525939 |
2689 | V>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239000 RCV002418817 rs761214867 CA8487724 |
2689 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs375468032 CA8487725 RCV000232474 RCV002311336 |
2691 | H>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801711 CA399203868 rs1597868213 |
2691 | H>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053082 rs2070327979 |
2692 | E>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048228 rs2070327932 |
2692 | E>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658554 RCV000223563 RCV000632500 CA10580431 |
2694 | S>P | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs876658554 RCV000695989 CA399203902 |
2694 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002445175 rs1597868223 CA399203906 |
2694 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000581694 rs1555536928 |
2695 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816253 rs1597868244 |
2695 | P>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059067 rs2070328290 RCV003160476 |
2695 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632425 rs772707560 RCV002413806 CA8487726 RCV002256422 |
2695 | P>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002445176 rs1597868252 CA399203925 |
2696 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237386 rs764508546 |
2696 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597868268 RCV001237289 |
2698 | Y>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1405312220 CA399203944 RCV001345047 |
2698 | Y>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000166752 rs786203443 CA196638 |
2699 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399203958 RCV002317222 rs786203443 |
2699 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000000377 CA212546 rs267606601 |
2702 | Y>* | Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000034591 CA166986 RCV000501885 RCV000515212 rs201824349 RCV000130727 RCV002415459 RCV001079427 |
2702 | Y>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA289711058 RCV000540653 RCV002413461 rs955074155 |
2703 | L>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632305 rs1555536947 |
2705 | S>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445179 rs1597868305 CA399204023 RCV002552422 |
2705 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070339252 RCV001206939 |
2709 | N>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068337 rs2070339296 |
2709 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597868740 RCV002445181 CA399204146 |
2710 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702069 CA399204183 RCV002442509 rs1170836879 |
2713 | R>Q | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001318026 CA8487756 RCV002412023 rs757391670 |
2713 | R>W | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001290931 rs2070340004 |
2714 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000779214 rs1567628013 |
2714 | F>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216934 rs2070340047 |
2715 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597868802 RCV002422774 RCV000808054 CA399204210 |
2715 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778799019 RCV000804420 RCV000681184 RCV000572639 RCV002476216 CA8487759 RCV002420548 |
2717 | P>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000660126 rs1555537029 |
2720 | K>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796097 CA399204253 rs1597868832 |
2720 | K>* | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597868832 CA399204251 RCV000798571 |
2720 | K>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399204261 RCV000808732 rs1555537030 RCV002317163 |
2720 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070372971 RCV001295183 |
2721 | Q>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001762463 RCV000806298 rs876657933 RCV000214431 CA10577039 |
2721 | Q>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399204394 rs1135402910 RCV000497095 |
2726 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853615 rs876660178 RCV000218366 CA10580432 |
2727 | Y>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297439 CA8487775 rs750603086 |
2728 | A>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8487776 RCV000698786 rs760973918 RCV000681173 RCV000215349 |
2728 | A>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001205410 rs1567628605 CA399204459 |
2731 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070373730 RCV001041832 |
2733 | K>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000817292 rs1597870141 |
2736 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070373881 RCV001228541 |
2736 | D>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399204515 RCV002442827 rs1597870148 RCV000866698 |
2736 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1264511763 RCV001346934 |
2737 | A>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201597 RCV002445186 CA399204548 |
2738 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000163527 RCV000681032 CA188528 RCV002415712 rs752541243 RCV000226237 |
2739 | I>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2070374242 RCV001242305 |
2740 | D>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217110 CA399204563 RCV000564898 rs1555537228 |
2740 | D>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144178015 RCV002422445 RCV000660128 CA399204577 |
2741 | T>K | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV000996522 RCV002311310 RCV001292741 rs144178015 RCV000199205 CA338462 |
2741 | T>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Juvenile myelomonocytic leukemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
CA399204596 RCV002445187 RCV001346702 rs1597870180 |
2743 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215281 rs779789452 RCV003165564 RCV002494592 CA8487780 RCV000230134 |
2746 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8487779 rs756800001 RCV001303077 |
2746 | I>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002563039 RCV001223611 rs745472917 |
2747 | D>N | Neurofibromatosis, type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583530 RCV000231501 rs878853919 |
2748 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048623 rs2070374835 |
2750 | T>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070374976 RCV001202929 |
2753 | E>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399204753 RCV002317233 rs1555537241 RCV000684923 |
2756 | L>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555537244 CA399204765 RCV002315734 |
2757 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002445192 rs1597870238 CA399204824 |
2762 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000226411 rs878853920 CA10583531 |
2763 | P>H | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201689 rs2070375557 |
2763 | P>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2070375859 RCV001064348 |
2766 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819071 rs1597870232 |
2766 | L>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002317182 RCV001240074 rs749647961 CA8487784 |
2766 | L>V | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001232679 rs2070376310 |
2771 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399204946 rs1597870290 RCV001035797 RCV002445194 |
2773 | T>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597870268 RCV000815351 CA915949945 |
2775 | N>E | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317756 RCV000229188 CA8487788 rs772090874 |
2775 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000689877 RCV000220570 rs772090874 CA8487789 |
2775 | N>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555537252 RCV000529759 RCV002431545 RCV002469184 CA399204958 |
2775 | N>Y | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315799 rs1555537253 CA399205001 |
2778 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066331 rs2070377037 RCV002554489 RCV002482101 TCGA novel |
2786 | A>V | Neurofibromatosis, type 1 Variant assessed as Somatic; impact. Neurofibromatosis, familial spinal [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs374004608 RCV000797200 RCV002424831 CA289711214 |
2788 | S>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567628713 RCV000695097 CA399205099 RCV002424653 |
2788 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399205144 RCV002337062 rs1597870350 |
2791 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220327 rs2070377546 |
2792 | P>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399205846 RCV002337064 RCV001323065 rs1275285522 |
2793 | G>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA399205854 RCV001038068 rs1475978079 |
2795 | D>N | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1383658117 RCV001214849 RCV002315829 RCV003151794 CA399205862 |
2796 | K>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001070808 RCV002315797 rs1555538511 |
2797 | E>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555538513 RCV002316622 |
2798 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809707 CA399205882 RCV002317248 rs1555538515 |
2798 | N>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555538514 RCV000632455 CA399205880 |
2798 | N>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436960 rs2070695501 RCV001244378 |
2799 | V>A | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377393842 RCV001236377 |
2799 | V>F | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377393842 RCV002408724 RCV000233106 RCV000163718 RCV000480546 CA189036 RCV001818370 |
2799 | V>I | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs377393842 RCV001307913 |
2799 | V>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002337066 CA399205892 rs1597882991 |
2800 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399205905 RCV001070311 rs1597883017 |
2802 | S>P | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001030642 rs779180729 CA8487819 RCV000227147 RCV002338704 |
2803 | P>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2070695954 RCV001345649 |
2807 | H>L | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399205938 RCV000698280 CA399205939 RCV002440494 rs1326795798 |
2807 | H>Q | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV003163529 rs2070695954 RCV001203005 |
2807 | H>R | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597883056 CA399205941 RCV000800358 |
2808 | C>R | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8487821 rs148473245 RCV002436873 RCV001224651 |
2808 | C>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001045449 rs2070696010 |
2808 | C>missing | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399205956 RCV002337068 rs1597883071 COSM94824 |
2810 | S>G | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001035566 rs2070696371 |
2813 | T>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658139 RCV001068303 RCV000222318 CA10580434 |
2814 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2070696484 RCV001296871 |
2815 | H>Y | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166465 CA195946 RCV002492669 RCV000632473 rs778233452 RCV002433719 |
2816 | G>R | Variant assessed as Somatic; 0.0 impact. Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV003160337 rs1048863798 RCV001045305 CA289712494 |
2817 | S>F | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA399206003 RCV002317238 rs771006452 |
2818 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8487822 RCV002530312 RCV002317194 RCV001755950 rs771006452 |
2818 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002316525 RCV000543184 rs934837854 RCV000679419 RCV002483373 CA289712495 |
2819 | S>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA399206022 rs1567634549 RCV000687364 |
2821 | V>M | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000557863 rs1203883572 RCV002448635 CA399206043 |
2823 | K>N | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000536452 rs1057523477 CA16608394 RCV000437606 |
2826 | S>T | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000129320 rs199878086 RCV000229927 RCV001558973 CA164192 |
2827 | A>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV002446773 RCV000468064 RCV000825205 CA8487826 rs199878086 RCV000560959 |
2827 | A>T | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV001048294 rs2070697456 RCV002445255 |
2828 | G>S | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000232715 RCV000695598 RCV002442466 CA399206089 rs760550772 RCV003162713 RCV000166910 CA197005 RCV000681318 |
2830 | F>L | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000546661 CA170021 RCV003162594 RCV000132532 rs587782893 RCV003162595 |
2832 | R>C | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781523 CA164570 RCV000129514 RCV000556506 |
2832 | R>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000812920 CA399206103 rs786202863 |
2833 | N>D | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA194492 rs786202863 RCV001567482 RCV000534834 RCV000165906 |
2833 | N>H | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA399206105 RCV000696014 rs1567634576 |
2833 | N>S | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858320 rs764858484 RCV002317239 CA8487828 RCV001775892 |
2834 | S>G | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001315477 rs2070698110 |
2837 | K>Q | Neurofibromatosis, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555538565 RCV001858200 RCV002316608 |
2837 | K>missing | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399206145 RCV003117509 RCV000708726 rs1567634589 |
2838 | I>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA399206147 RCV002346214 RCV002316613 CA399206146 rs368149035 |
2839 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000129511 RCV002444579 CA161080 RCV000467516 RCV000121641 rs368149035 RCV001582594 |
2839 | V>M | Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs864622210 CA398979224 |
6 | P>R | No |
ClinGen gnomAD |
|
|
rs1567786812 CA398979220 RCV000757565 |
6 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1472128030 CA398979237 |
7 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431112645 CA398979300 |
11 | Q>H | No |
ClinGen gnomAD |
|
|
CA8485472 rs779453629 |
21 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1597625799 RCV001008734 |
22 | P>* | No |
ClinVar dbSNP |
|
|
CA8485477 rs771764281 |
28 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555604877 RCV000515676 |
29 | N>missing | No |
ClinVar dbSNP |
|
|
rs1555604887 CA398988217 |
33 | K>I | No |
ClinGen Ensembl |
|
|
rs772995929 CA398988230 |
34 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398988233 rs1217358160 |
34 | V>G | No |
ClinGen gnomAD |
|
|
rs1037334506 CA289348627 |
38 | H>Y | No |
ClinGen Ensembl |
|
|
rs1567814497 RCV000760775 CA398988365 |
41 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 41 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398988427 rs1305573980 |
46 | I>V | No |
ClinGen TOPMed |
|
|
CA398988442 rs1401356668 |
47 | S>C | No |
ClinGen gnomAD |
|
|
rs1597626031 RCV000992428 |
48 | K>* | No |
ClinVar dbSNP |
|
|
rs1351732760 CA398988500 |
51 | F>C | No |
ClinGen TOPMed |
|
|
rs751891720 CA8485484 |
56 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000657462 rs1555604942 |
67 | N>missing | No |
ClinVar dbSNP |
|
|
rs1216707810 CA398989483 |
69 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 72 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199474726 RCV000059163 COSM24500 CA219430 COSM1679693 VAR_017550 |
74 | A>D | large_intestine mismatch repair deficient cancer cells [Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
| TCGA novel | 78 | N>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8485504 rs561555410 |
78 | N>I | No |
ClinGen 1000Genomes ExAC |
|
| rs1438566555 | 78 | N>I | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 79 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs4795581 CA8485508 |
80 | Y>F | No |
ClinGen ExAC TOPMed |
|
| rs771115661 | 83 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1555606044 | 97 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780979519 CA8485528 |
98 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8485529 TCGA novel rs745611945 |
99 | K>R | Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA289324730 rs112860408 |
112 | Q>H | No |
ClinGen Ensembl |
|
|
RCV000520039 rs1555606080 |
125 | R>missing | No |
ClinVar dbSNP |
|
|
rs1597635874 CA398981844 |
130 | H>N | No |
ClinGen Ensembl |
|
|
rs769615182 CA8485534 |
132 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 135 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000627530 rs1555606098 |
141 | V>missing | No |
ClinVar dbSNP |
|
|
rs763663904 CA8485536 |
147 | C>F | No |
ClinGen ExAC gnomAD |
|
| rs1567817974 | 150 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272106481 CA398982142 |
155 | S>C | No |
ClinGen TOPMed |
|
|
CA8485540 rs755890242 |
156 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000520259 CA398982208 rs1555606128 |
160 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1467647623 CA398984728 |
164 | L>I | No |
ClinGen TOPMed |
|
| rs786201874 | 167 | C>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555607102 RCV000507328 |
184 | N>missing | No |
ClinVar dbSNP |
|
|
rs755264081 CA8485554 |
187 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755264081 CA398985331 |
187 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 189 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480082817 CA398985406 |
191 | K>E | No |
ClinGen gnomAD |
|
|
RCV000521651 rs1555607123 |
196 | E>LK | No |
ClinVar dbSNP |
|
|
CA398989301 rs1460076498 |
204 | L>V | No |
ClinGen gnomAD |
|
|
CA8485572 rs752959118 |
207 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA289334462 rs532820496 |
208 | A>P | No |
ClinGen 1000Genomes |
|
|
CA398989439 rs1222625615 |
213 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | N>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8485577 rs746291745 |
214 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1331838002 CA398989453 |
215 | S>G | No |
ClinGen TOPMed |
|
|
CA398989523 rs1332171832 |
218 | K>R | No |
ClinGen gnomAD |
|
|
rs1555608736 RCV000599419 |
220 | F>* | No |
ClinVar dbSNP |
|
|
rs1064796137 RCV000483705 |
222 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 225 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597658649 CA398990061 |
235 | Y>C | No |
ClinGen Ensembl |
|
|
rs1567826158 RCV000681329 |
241 | D>missing | No |
ClinVar dbSNP |
|
|
rs1288768926 CA398990220 |
242 | M>I | No |
ClinGen gnomAD |
|
| rs1555608763 | 242 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8485639 rs188236947 |
256 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 262 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393070691 CA398990874 |
265 | A>G | No |
ClinGen gnomAD |
|
|
rs1441060549 CA398990914 |
268 | P>R | No |
ClinGen gnomAD |
|
|
CA398990947 rs1225621913 |
271 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000612007 rs1555608976 CA398991072 |
280 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA398991099 rs779034900 |
282 | Q>P | No |
ClinGen gnomAD |
|
|
CA398991113 rs878853921 |
283 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA398991111 rs200572531 |
283 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398991196 rs1326607708 |
289 | V>L | No |
ClinGen gnomAD |
|
|
CA8485648 rs778606171 |
293 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 305 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001009036 rs1597680816 |
309 | G>missing | No |
ClinVar dbSNP |
|
|
rs1238509603 CA398995659 |
310 | H>L | No |
ClinGen gnomAD |
|
|
rs1597680837 CA398995652 |
310 | H>N | No |
ClinGen Ensembl |
|
|
CA8485662 rs373320953 |
313 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8485663 rs766011053 |
315 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555610879 RCV000497664 |
318 | E>missing | No |
ClinVar dbSNP |
|
|
CA398995981 rs199474735 |
324 | C>G | No |
ClinGen TOPMed |
|
|
CA8485665 rs778890596 |
324 | C>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1422095982 CA398996013 |
325 | V>A | No |
ClinGen gnomAD |
|
|
rs2066507887 RCV001311486 |
327 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 327 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375201056 CA398996068 |
327 | L>V | No |
ClinGen gnomAD |
|
|
CA219651 VAR_067201 rs199474767 RCV000059220 COSM220109 |
330 | A>T | soft_tissue a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM3717152 COSM3717153 RCV000508559 rs747241884 CA398996273 |
337 | E>* | liver [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA8485668 rs747241884 |
337 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs1555610903 | 340 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567835228 CA398996330 |
340 | S>P | No |
ClinGen Ensembl |
|
| rs1555610905 | 341 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 342 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398996499 rs1474182136 |
350 | V>A | No |
ClinGen TOPMed |
|
|
CA398996568 RCV000712399 rs1131691118 |
354 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781012541 CA289349071 |
355 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 356 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751312173 CA8485687 |
363 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs2066519253 RCV001091253 |
364 | F>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 364 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398996850 rs1361040414 |
367 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 375 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 383 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567835794 CA398997135 |
384 | F>S | No |
ClinGen Ensembl |
|
|
rs1555611037 RCV000505941 |
393 | H>missing | No |
ClinVar dbSNP |
|
|
rs199474768 COSM220122 RCV000059150 VAR_067202 CA219378 |
393 | H>D | soft_tissue a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA219383 rs199474769 VAR_067203 RCV000059151 COSM220072 |
393 | H>L | soft_tissue a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs199474769 CA398997317 |
393 | H>R | No |
ClinGen gnomAD |
|
|
rs1227237238 CA398997356 |
395 | K>R | No |
ClinGen gnomAD |
|
|
CA398997421 rs786201937 |
397 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 398 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376759287 CA398997633 |
410 | L>P | No |
ClinGen gnomAD |
|
|
rs1085307728 RCV000490081 |
415 | H>missing | No |
ClinVar dbSNP |
|
|
rs1353527088 CA398999059 |
421 | S>F | No |
ClinGen gnomAD |
|
|
rs786202145 CA398999065 |
422 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773108080 CA8485743 |
423 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 428 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866238485 CA289352252 |
432 | V>A | No |
ClinGen Ensembl |
|
|
rs752789273 CA8485751 |
438 | E>* | No |
ClinGen ExAC |
|
|
CA8485752 rs759017904 |
439 | L>V | No |
ClinGen ExAC |
|
|
CA289352311 RCV001293499 rs370020114 |
441 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 441 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398999530 rs1228959883 |
445 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 447 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 450 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289352338 rs983914251 |
454 | C>Y | No |
ClinGen TOPMed |
|
|
CA398999754 rs1333154156 |
456 | A>P | No |
ClinGen gnomAD |
|
|
rs748907021 CA8485758 |
460 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA398999831 rs1263791591 |
460 | I>V | No |
ClinGen gnomAD |
|
|
CA8485759 rs768249199 |
462 | M>I | No |
ClinGen ExAC |
|
| TCGA novel | 463 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398999948 rs1269425503 |
464 | P>Q | No |
ClinGen gnomAD |
|
|
RCV000780540 rs1567841729 CA399001423 |
467 | T>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs778963145 | 467 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 476 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328965425 CA399001484 |
476 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 480 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399001575 RCV000756435 rs1567841799 |
489 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399001578 rs1181298067 |
490 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 492 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 493 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 493 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 506 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597703352 RCV001002408 |
511 | P>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 512 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775369084 CA8485807 |
514 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587782696 CA399001866 |
518 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM24496 rs199474770 RCV000059153 CA219392 VAR_067204 |
519 | Q>P | soft_tissue a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA399001886 rs1489001411 |
521 | S>I | No |
ClinGen gnomAD |
|
|
rs1375665622 CA399001889 |
522 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 533 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001008415 rs1597703530 |
537 | H>missing | No |
ClinVar dbSNP |
|
|
rs886052798 CA399002223 |
550 | L>Q | No |
ClinGen TOPMed |
|
|
CA8485822 rs113867817 |
551 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA289360589 rs953440640 |
554 | Q>K | No |
ClinGen TOPMed |
|
|
RCV000757567 rs1567845057 |
558 | I>missing | No |
ClinVar dbSNP |
|
|
rs915463951 CA289361241 |
575 | S>L | No |
ClinGen TOPMed |
|
|
rs1398363349 CA399004028 |
579 | F>C | No |
ClinGen gnomAD |
|
| rs786204255 | 580 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 581 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292261970 CA399004115 |
584 | K>E | No |
ClinGen TOPMed |
|
|
rs775670722 CA8485849 |
585 | L>S | No |
ClinGen ExAC |
|
| TCGA novel | 585 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327101856 CA399004179 |
587 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567845900 RCV001009069 |
595 | E>missing | No |
ClinVar dbSNP |
|
|
rs1597708772 CA399004438 |
602 | E>V | No |
ClinGen Ensembl |
|
|
RCV000034580 CA215730 rs386833409 |
605 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8485853 rs201064978 |
611 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 618 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438161746 CA399005060 |
620 | S>G | No |
ClinGen gnomAD |
|
|
COSM977413 CA399005058 COSM977414 rs1438161746 |
620 | S>R | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8485873 rs760346063 |
621 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1131691777 RCV000493921 |
622 | C>missing | No |
ClinVar dbSNP |
|
|
CA399005115 rs765060733 |
624 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1555613558 | 628 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 628 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 633 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 635 | P>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 642 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001289104 rs2066991676 |
644 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 650 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 653 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001192723 rs1471484159 |
657 | S>T | No |
ClinVar dbSNP |
|
|
RCV000486304 rs1064796843 |
658 | L>missing | No |
ClinVar dbSNP |
|
|
CA625469134 rs1189843809 |
665 | S>* | No |
ClinGen gnomAD |
|
|
rs1418818384 CA398981992 |
668 | D>V | No |
ClinGen TOPMed |
|
|
CA398981989 rs1445299269 |
668 | D>Y | No |
ClinGen TOPMed |
|
|
CA398981999 rs1288056326 |
669 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA289334950 CA289334947 rs2230851 |
674 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8485909 rs779546178 |
675 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294581001 CA398982039 |
676 | T>S | No |
ClinGen TOPMed |
|
| rs587781807 | 678 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs587781807 | 679 | I>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398982053 rs1597712366 |
679 | I>T | No |
ClinGen Ensembl |
|
|
rs1254780857 CA398982050 |
679 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398982083 rs1284070052 |
683 | A>V | No |
ClinGen gnomAD |
|
|
COSM1382062 CA289334991 COSM1382063 rs201076784 |
684 | Q>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs1555613795 RCV000508405 |
693 | M>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 698 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398982239 rs1182909595 |
698 | P>S | No |
ClinGen gnomAD |
|
|
CA398982245 rs1411913425 |
699 | D>H | No |
ClinGen TOPMed |
|
|
RCV000681099 rs1567847493 CA398982307 |
708 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs2067018146 RCV001268482 |
709 | C>* | No |
ClinVar dbSNP |
|
|
rs1555613810 RCV000521737 |
713 | L>missing | No |
ClinVar dbSNP |
|
|
rs1336584572 CA398982352 |
715 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000681437 rs1567847540 |
717 | A>missing | No |
ClinVar dbSNP |
|
|
CA398982372 rs1384193517 |
718 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 724 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286693766 CA398982420 |
725 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 732 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755772082 CA8485921 |
734 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398982486 rs1447598673 |
735 | Y>C | No |
ClinGen gnomAD |
|
|
rs1597712699 RCV001008431 |
736 | N>missing | No |
ClinVar dbSNP |
|
|
CA398982494 rs1311417881 |
736 | N>S | No |
ClinGen gnomAD |
|
|
rs745653347 CA289335066 |
737 | T>S | No |
ClinGen Ensembl |
|
|
rs1374542835 CA398982515 |
739 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 742 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398982576 rs1327483403 |
748 | M>V | No |
ClinGen gnomAD |
|
|
COSM1382064 COSM1382065 COSM24583 rs778344080 CA8485923 |
749 | S>* | large_intestine soft_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1270674587 CA398982725 |
757 | K>E | No |
ClinGen gnomAD |
|
|
rs777759192 CA8485942 |
758 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 758 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs978948341 CA289335253 |
759 | V>M | No |
ClinGen TOPMed |
|
|
rs1191883088 CA398982762 |
760 | M>V | No |
ClinGen gnomAD |
|
|
rs1170184937 CA398982810 |
764 | R>K | No |
ClinGen gnomAD |
|
|
CA398982832 rs863224657 |
766 | I>T | No |
ClinGen Ensembl |
|
|
CA398982827 rs1303924124 |
766 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV001267989 rs2067037428 |
777 | W>* | No |
ClinVar dbSNP |
|
|
rs749404479 CA8485965 |
778 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8485966 rs774248644 |
781 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1352143970 CA398983071 |
782 | A>T | No |
ClinGen gnomAD |
|
|
RCV000722021 rs1567848147 |
784 | W>missing | No |
ClinVar dbSNP |
|
|
rs761023505 CA8485969 |
795 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8485970 rs766581329 |
796 | K>E | No |
ClinGen ExAC |
|
|
RCV000585453 rs1555614016 |
797 | A>missing | No |
ClinVar dbSNP |
|
|
rs745498566 CA289335534 |
798 | K>R | No |
ClinGen Ensembl |
|
|
rs761109477 CA8485989 |
804 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 817 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300226301 CA398983925 |
817 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV001091258 rs2067065066 |
818 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 818 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398983966 rs1303972238 RCV000681124 |
821 | S>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 827 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 833 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8485993 rs750401279 |
834 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555614207 CA398984102 |
835 | Q>E | No |
ClinGen Ensembl |
|
|
CA398984146 rs1484277979 |
838 | I>T | No |
ClinGen gnomAD |
|
|
COSM977419 COSM977420 CA8485994 rs755956826 |
839 | N>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
RCV000520470 rs1555614222 |
841 | T>K | No |
ClinVar dbSNP |
|
|
CA398984259 rs1424956205 |
850 | V>G | No |
ClinGen TOPMed |
|
|
rs747579293 CA8485998 |
852 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA398984332 rs1257258707 |
856 | S>R | No |
ClinGen TOPMed |
|
|
CA398984349 rs369493270 |
858 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8486004 rs772810457 |
870 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1360462945 CA398984460 |
870 | V>I | No |
ClinGen gnomAD |
|
|
rs758576740 CA8486011 |
878 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA398984608 rs1156571421 |
880 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 882 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398984805 rs1597715567 |
888 | D>N | No |
ClinGen Ensembl |
|
|
CA398984824 rs1314766383 |
889 | T>P | No |
ClinGen gnomAD |
|
|
rs771012891 CA289336227 |
890 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1230236774 CA398984874 |
892 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 892 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398984964 rs1216596678 |
896 | D>E | No |
ClinGen gnomAD |
|
|
CA398984946 rs1189816828 |
896 | D>N | No |
ClinGen gnomAD |
|
|
rs775949348 CA398984970 |
897 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1064796946 RCV000486218 |
899 | L>missing | No |
ClinVar dbSNP |
|
|
CA8486017 rs747835651 COSM1479420 |
899 | L>V | adrenal_gland breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1353007349 CA398985054 |
902 | M>T | No |
ClinGen TOPMed |
|
|
rs1597715652 CA398985073 |
903 | V>G | No |
ClinGen Ensembl |
|
|
CA398985543 rs1424751337 |
926 | S>N | No |
ClinGen gnomAD |
|
|
RCV000485560 rs1064795730 |
931 | P>missing | No |
ClinVar dbSNP |
|
|
rs764290369 CA8486025 |
931 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1290269423 CA398985642 |
931 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000241726 CA10587261 rs786201823 |
935 | N>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 936 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398985742 rs1567849184 RCV000681020 |
937 | L>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs368995630 CA8486027 |
940 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1567849208 | 945 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878853879 CA398985864 |
947 | S>F | No |
ClinGen TOPMed |
|
|
CA8486029 rs746384536 |
948 | Q>R | No |
ClinGen ExAC gnomAD |
|
| rs863224446 | 950 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 952 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756736860 CA8486049 |
953 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs2067083389 RCV001091260 |
965 | I>missing | No |
ClinVar dbSNP |
|
|
rs1289091384 CA398986124 |
967 | I>T | No |
ClinGen gnomAD |
|
|
RCV001280756 rs2067084803 |
989 | E>* | No |
ClinVar dbSNP |
|
|
rs1190931765 CA398986405 |
992 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1567849596 CA398986404 RCV000680817 |
992 | M>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1131691844 CA398986539 RCV000494111 |
1001 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001008723 CA915949834 rs1597716834 |
1003 | G>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1004 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1004 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405071456 CA398986639 |
1010 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1396408485 CA398987319 |
1011 | I>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1016 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398987374 rs1135402840 |
1016 | C>W | No |
ClinGen gnomAD |
|
| TCGA novel | 1021 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398987421 rs1597716939 RCV000788658 |
1021 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs773578096 CA8486081 |
1035 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA398987700 RCV000760871 rs1567849891 |
1036 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1040 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771254639 CA8486100 |
1054 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs866069972 CA289337084 |
1055 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8486102 rs759655189 |
1056 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA8486103 rs765164994 |
1059 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA398988255 rs1314168961 |
1062 | K>T | No |
ClinGen TOPMed |
|
|
rs1464369504 CA398988558 |
1069 | D>Y | No |
ClinGen gnomAD |
|
|
rs2067122558 RCV001289106 |
1074 | E>missing | No |
ClinVar dbSNP |
|
|
rs781567020 CA8486125 |
1074 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA398988745 rs1180864399 |
1079 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1079 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000627393 rs1555614851 |
1088 | E>* | No |
ClinVar dbSNP |
|
|
CA289337588 rs9907627 |
1089 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 1090 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398988852 rs1457169236 |
1092 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1095 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762164628 CA8486131 |
1098 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA289337597 rs140957113 |
1104 | L>F | No |
ClinGen Ensembl |
|
|
rs1185432449 CA398989012 |
1113 | L>I | No |
ClinGen TOPMed |
|
|
rs1426298604 CA398989040 |
1116 | D>E | No |
ClinGen gnomAD |
|
|
CA8486156 rs200594167 |
1120 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398989069 rs757222815 |
1121 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1126 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562110311 CA8486160 |
1127 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749448360 CA8486161 |
1130 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA398989139 rs587781725 |
1132 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs778920556 CA398989141 |
1132 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398989184 rs1317820168 |
1138 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1144 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450606511 CA398989256 |
1145 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1159 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000490159 rs876660814 CA398989530 |
1165 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1169 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000507028 rs1555615026 |
1179 | F>missing | No |
ClinVar dbSNP |
|
|
rs752850053 CA8486192 |
1184 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391846217 CA398990029 |
1186 | I>T | No |
ClinGen TOPMed |
|
| VAR_035543 | 1187 | L>I | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA8486193 rs758419553 |
1188 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000479978 rs758419553 CA16620365 |
1188 | Q>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1442037817 CA398990114 |
1192 | E>K | No |
ClinGen gnomAD |
|
|
rs1597720023 CA398990256 |
1200 | V>A | No |
ClinGen Ensembl |
|
|
rs1452309540 CA398990281 |
1202 | A>G | No |
ClinGen TOPMed |
|
|
CA8486198 rs768493068 |
1209 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747780947 CA8486199 |
1221 | L>V | No |
ClinGen ExAC gnomAD |
|
| rs867391752 | 1222 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8486201 rs772745260 |
1222 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000506078 rs1555615091 CA398990558 |
1223 | I>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1567851501 RCV000681436 |
1227 | L>missing | No |
ClinVar dbSNP |
|
|
rs751638238 CA8486208 |
1234 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs199641541 CA289340010 |
1244 | V>A | No |
ClinGen 1000Genomes |
|
|
CA398992383 rs1363534157 |
1245 | T>I | No |
ClinGen TOPMed gnomAD |
|
| rs1064794276 | 1247 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049357346 CA289340028 |
1247 | F>L | No |
ClinGen TOPMed |
|
|
CA398992440 rs1486537225 |
1249 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 1250 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000508176 rs1555615447 |
1253 | L>missing | No |
ClinVar dbSNP |
|
|
CA398992503 rs1309286493 |
1254 | Y>C | No |
ClinGen gnomAD |
|
|
CA398992501 rs1309286493 |
1254 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1264 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754213101 CA8486231 |
1265 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1266 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1268 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758051144 CA8486232 |
1268 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8486235 rs756780735 |
1272 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA398992739 rs1597722598 |
1275 | F>L | No |
ClinGen Ensembl |
|
| rs1555615472 | 1275 | F>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306874240 CA398992773 |
1278 | N>H | No |
ClinGen TOPMed |
|
|
rs745844942 CA8486237 |
1279 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1170788683 CA398992794 |
1279 | S>I | No |
ClinGen gnomAD |
|
|
CA289340116 rs940420850 |
1280 | L>F | No |
ClinGen TOPMed |
|
|
rs775206529 CA8486239 |
1284 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1287 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1303 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8486269 rs767152984 |
1309 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA398993266 rs1349575030 |
1317 | V>A | No |
ClinGen gnomAD |
|
|
rs755665232 CA8486271 |
1319 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398993326 rs1178651832 |
1322 | D>E | No |
ClinGen TOPMed |
|
|
rs189522993 CA398993340 |
1324 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1336 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597735056 RCV001001313 |
1338 | N>* | No |
ClinVar dbSNP |
|
|
CA398994886 rs864622202 |
1338 | N>D | No |
ClinGen gnomAD |
|
|
CA398994915 rs1326621088 |
1342 | M>T | No |
ClinGen gnomAD |
|
|
CA398994933 rs1238547012 |
1345 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 1346 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567858357 COSM1189435 CA398994972 RCV000681083 COSM1189436 |
1350 | I>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA398994977 rs1233135542 |
1351 | I>F | No |
ClinGen gnomAD |
|
|
COSM3717154 COSM3717155 rs1233135542 CA398994978 |
1351 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA398994984 rs1337343400 |
1352 | S>R | No |
ClinGen gnomAD |
|
| rs1135402852 | 1359 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769845648 CA398995043 |
1360 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1360 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398995068 rs1364158639 |
1365 | C>G | No |
ClinGen gnomAD |
|
|
rs1398357469 CA398995076 |
1366 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 1369 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8486348 rs763041946 |
1371 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398995725 rs886038394 |
1373 | C>W | No |
ClinGen TOPMed |
|
|
rs751447544 CA8486349 |
1378 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1382 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387972895 CA398995983 |
1384 | E>* | No |
ClinGen gnomAD |
|
| rs1567859802 | 1386 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757017345 CA8486350 |
1387 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767295226 CA8486351 |
1388 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8486352 rs560197275 |
1389 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8486363 rs769555730 |
1393 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1266004840 CA398997650 |
1402 | I>V | No |
ClinGen gnomAD |
|
|
CA398997669 rs138227618 |
1403 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190777334 COSM1630123 COSM1630122 CA398997848 |
1413 | F>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV000680824 CA398997887 rs1555618521 |
1416 | P>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555618536 RCV000598688 |
1421 | P>missing | No |
ClinVar dbSNP |
|
|
CA398997972 rs1277715972 |
1425 | G>R | No |
ClinGen gnomAD |
|
|
rs1177433867 CA398997995 |
1427 | L>S | No |
ClinGen TOPMed |
|
|
rs1567862024 RCV000681100 CA658824765 |
1430 | K>NS | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1430 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930267534 CA289350601 |
1431 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1433 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209779641 CA398998070 |
1434 | R>S | No |
ClinGen gnomAD |
|
|
CA8486373 rs771354725 |
1435 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA8486375 rs748901190 |
1438 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV001092505 rs2067635690 |
1447 | Q>missing | No |
ClinVar dbSNP |
|
|
CA398998723 rs1410459904 |
1449 | I>T | No |
ClinGen gnomAD |
|
|
CA398998756 rs1391955681 |
1452 | H>Q | No |
ClinGen gnomAD |
|
|
rs1306807858 CA398998761 |
1453 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 1454 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1460 | H>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000391211 rs886041435 |
1461 | M>missing | No |
ClinVar dbSNP |
|
|
CA398998858 rs876658127 |
1462 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1464 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1464 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191385772 CA398998981 |
1473 | D>G | No |
ClinGen gnomAD |
|
| rs181462219 | 1477 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398999214 rs1555618808 |
1483 | A>P | No |
ClinGen Ensembl |
|
|
rs564989006 CA8486425 |
1483 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM220115 RCV000059203 VAR_067206 rs199474772 CA219582 |
1484 | S>F | soft_tissue a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs745678532 CA8486427 |
1490 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398999403 RCV000681087 rs769417700 |
1494 | H>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs769417700 CA8486428 |
1494 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8486429 rs775803412 |
1495 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1254695587 CA398999676 |
1508 | H>L | No |
ClinGen TOPMed |
|
|
CA398999669 rs1393895345 |
1508 | H>Y | No |
ClinGen gnomAD |
|
|
rs2067665969 RCV001268373 |
1523 | S>missing | No |
ClinVar dbSNP |
|
|
CA399000091 rs1269451510 |
1527 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1530 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399000135 rs1225501462 |
1530 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1532 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16620368 rs1064796633 RCV000478423 |
1533 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs766577810 CA8486450 |
1539 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA399000263 RCV000681204 RCV000607470 rs1555619011 |
1542 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs762672422 CA8486452 |
1551 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597748891 RCV001000856 |
1557 | T>missing | No |
ClinVar dbSNP |
|
|
CA399000471 rs1192575555 |
1559 | W>R | No |
ClinGen gnomAD |
|
|
CA8486454 rs757165176 |
1566 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1167129178 CA399001189 |
1582 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 1585 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001192724 rs2067766230 |
1597 | G>V | No |
ClinVar dbSNP |
|
|
rs1253123816 RCV000585201 |
1598 | T>missing | No |
ClinVar dbSNP |
|
|
rs1567865056 RCV000760819 CA399001314 |
1600 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs876658492 | 1607 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs876658492 | 1607 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399001391 rs1555619423 RCV000612381 |
1612 | R>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1268872486 CA399006929 |
1618 | I>M | No |
ClinGen gnomAD |
|
|
CA399006916 rs1208118952 |
1618 | I>V | No |
ClinGen gnomAD |
|
|
rs951370950 CA289377044 |
1630 | T>S | No |
ClinGen Ensembl |
|
|
RCV000506195 rs1555533292 CA399007044 |
1631 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399007046 rs1597829601 |
1631 | L>F | No |
ClinGen Ensembl |
|
|
rs1443684477 CA399007111 |
1640 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 1659 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1085307459 | 1661 | K>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764611240 CA8487124 |
1667 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs865781825 CA289377115 |
1667 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs975605897 CA289377128 |
1670 | A>S | No |
ClinGen Ensembl |
|
|
rs1255338223 CA399007311 |
1671 | Y>D | No |
ClinGen gnomAD |
|
|
CA399007367 rs1555533349 RCV000522744 |
1679 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1681 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1682 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746461616 CA8487131 |
1687 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs780803693 CA8487133 |
1691 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1567611496 CA399007489 |
1694 | E>* | No |
ClinGen Ensembl |
|
|
rs769469854 CA8487134 |
1698 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA399007693 rs1302949776 |
1707 | V>F | No |
ClinGen TOPMed |
|
| TCGA novel | 1710 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399007737 rs1428709938 |
1710 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 1712 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399007845 rs1176053728 |
1720 | E>G | No |
ClinGen gnomAD |
|
|
rs267604792 CA289377349 |
1721 | H>Q | No |
ClinGen TOPMed |
|
|
CA8487142 rs760936909 |
1721 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs113272163 CA289377351 |
1722 | E>G | No |
ClinGen Ensembl |
|
|
CA399007906 rs1567611587 |
1724 | Q>* | No |
ClinGen Ensembl |
|
|
CA8487144 rs752480888 |
1727 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1735 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757260226 CA8487148 |
1736 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1736 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749010787 CA8487151 |
1748 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs891138800 CA289377573 |
1754 | S>A | No |
ClinGen TOPMed |
|
|
CA289377589 rs1032154486 |
1755 | I>M | No |
ClinGen TOPMed |
|
|
rs1284624366 CA399008905 |
1760 | T>A | No |
ClinGen gnomAD |
|
|
rs1567612377 CA399009094 RCV000761949 |
1772 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555533562 RCV000520337 |
1776 | S>missing | No |
ClinVar dbSNP |
|
|
RCV000507758 rs1555533566 |
1778 | F>missing | No |
ClinVar dbSNP |
|
|
rs1472920717 CA399009220 |
1781 | D>G | No |
ClinGen gnomAD |
|
|
CA399009300 rs1263046457 |
1792 | C>Y | No |
ClinGen gnomAD |
|
|
rs980556344 CA399009306 |
1793 | L>P | No |
ClinGen Ensembl |
|
|
rs980556344 CA289378577 |
1793 | L>R | No |
ClinGen Ensembl |
|
|
CA399009311 rs142867979 |
1794 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1807 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1807 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226080473 CA399009419 |
1810 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1811 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399009441 rs1350431265 |
1813 | M>I | No |
ClinGen gnomAD |
|
|
CA289378655 rs1036523228 |
1814 | H>N | No |
ClinGen TOPMed |
|
|
rs758784558 CA8487183 |
1824 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA399009548 rs1597832196 |
1829 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1843 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000480595 rs1064796631 |
1848 | K>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1848 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399009837 COSM1382164 rs1170679293 COSM1382165 |
1849 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA399009880 RCV000520359 rs1555533638 |
1851 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1436590774 CA399009883 |
1852 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1861 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567612716 RCV000681000 CA399010037 |
1864 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1245703067 CA399010045 |
1865 | S>C | No |
ClinGen TOPMed |
|
|
rs267604794 CA289378986 |
1868 | S>N | No |
ClinGen Ensembl |
|
|
rs267604795 CA289378998 |
1868 | S>R | No |
ClinGen Ensembl |
|
|
COSM133075 CA289379005 rs1049849034 |
1870 | R>W | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1339440257 CA399010090 |
1871 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1874 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1878 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8487209 COSM1382169 rs772945395 COSM1382168 |
1882 | C>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs746823251 CA8487210 |
1883 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA399010177 rs1567613616 RCV000681088 |
1884 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1886 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597834706 CA399010215 |
1890 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1893 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399010248 rs1194647626 |
1895 | T>A | No |
ClinGen TOPMed |
|
|
CA8487216 rs368201829 |
1897 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399010284 rs1597834766 |
1900 | I>T | No |
ClinGen Ensembl |
|
|
rs1597834791 CA399010313 |
1905 | T>P | No |
ClinGen Ensembl |
|
|
rs751904277 CA399010349 |
1910 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1911 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399010382 rs1555533875 |
1915 | L>R | No |
ClinGen Ensembl |
|
|
CA289380504 rs62070718 |
1916 | A>T | No |
ClinGen gnomAD |
|
|
CA399010388 rs1207438715 |
1917 | A>T | No |
ClinGen gnomAD |
|
|
rs750915711 CA8487220 |
1918 | N>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000507826 rs1555533880 |
1922 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1923 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255264164 CA399010447 |
1926 | F>V | No |
ClinGen gnomAD |
|
| rs1135402880 | 1927 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8487223 rs755138009 |
1930 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1272030269 CA399010483 |
1931 | I>V | No |
ClinGen TOPMed |
|
|
rs1597834959 RCV001008529 |
1936 | K>missing | No |
ClinVar dbSNP |
|
|
CA399010559 rs1376900184 |
1940 | E>* | No |
ClinGen gnomAD |
|
|
CA399010567 RCV000523968 rs1555534375 |
1941 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1942 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1943 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057520575 CA16607562 RCV000434601 |
1948 | Y>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| VAR_035544 | 1951 | P>L | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
COSM3402746 COSM3402747 rs1567615766 RCV000757561 CA399010646 |
1952 | W>* | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA8487270 rs747678243 |
1956 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1962 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878881139 CA289384494 |
1965 | D>E | No |
ClinGen Ensembl |
|
|
rs146725294 CA8487271 |
1966 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8487272 rs148861026 |
1966 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001009144 rs1597840123 |
1967 | K>missing | No |
ClinVar dbSNP |
|
|
rs868094590 CA289384547 |
1968 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 1970 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs863224835 | 1970 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1972 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000756432 rs1567615852 |
1980 | T>missing | No |
ClinVar dbSNP |
|
|
rs112069261 CA289384627 |
1980 | T>A | No |
ClinGen Ensembl |
|
|
CA399010841 rs1336219677 |
1982 | T>N | No |
ClinGen gnomAD |
|
|
rs375684076 CA289384651 |
1983 | I>S | No |
ClinGen ESP |
|
| TCGA novel | 1984 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567615890 CA399010856 RCV000681117 |
1985 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1996 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM220095 CA289384694 rs974012306 |
1997 | W>* | adrenal_gland soft_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA399010954 rs1203197903 |
1998 | G>V | No |
ClinGen TOPMed |
|
|
rs753703741 CA8487279 |
1999 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2005 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2006 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289385853 rs1000572454 |
2014 | F>C | No |
ClinGen TOPMed |
|
|
rs1057518475 RCV000412972 |
2021 | G>missing | No |
ClinVar dbSNP |
|
|
rs1555534609 RCV000519458 |
2030 | V>missing | No |
ClinVar dbSNP |
|
|
rs753624907 CA8487295 |
2031 | M>R | No |
ClinGen ExAC |
|
|
CA399011721 rs1555534665 RCV000608761 |
2054 | M>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555534668 CA399011801 |
2062 | C>Y | No |
ClinGen Ensembl |
|
|
CA399011861 rs1340390812 |
2067 | P>S | No |
ClinGen gnomAD |
|
|
rs1135402884 CA399011912 |
2071 | Q>K | No |
ClinGen gnomAD |
|
|
rs1597842843 RCV001002167 |
2083 | R>missing | No |
ClinVar dbSNP |
|
|
CA8487328 rs752569823 |
2088 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399012205 rs1254820959 |
2095 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 2095 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764106639 CA8487329 |
2098 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA399012227 rs1060500382 |
2099 | H>N | No |
ClinGen gnomAD |
|
|
rs756746198 CA8487331 |
2101 | P>L | No |
ClinGen ExAC |
|
|
CA399012250 rs1162388561 |
2102 | Y>C | No |
ClinGen gnomAD |
|
|
rs1476212874 CA399012245 |
2102 | Y>N | No |
ClinGen gnomAD |
|
|
CA399012248 rs1162388561 |
2102 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 2108 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2108 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000481849 rs1064795492 |
2117 | S>missing | No |
ClinVar dbSNP |
|
|
rs1567617045 CA891844403 |
2121 | S>L | No |
ClinGen Ensembl |
|
|
rs139387354 CA289386349 |
2122 | T>A | No |
ClinGen ESP |
|
| TCGA novel | 2124 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555534755 RCV000506454 |
2125 | L>missing | No |
ClinVar dbSNP |
|
|
RCV001000744 CA399012856 rs1597843145 |
2126 | V>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1287981187 CA399012878 |
2129 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 2129 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597843169 RCV001009122 |
2130 | I>missing | No |
ClinVar dbSNP |
|
|
COSM3958177 COSM3958176 CA399012907 rs1335480997 |
2134 | C>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1567617371 RCV000681344 CA399012991 |
2144 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000598595 rs1555534860 |
2150 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 2155 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2155 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2155 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8487359 COSM28439 COSM1382184 COSM1382185 rs746125499 |
2156 | F>L | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 2161 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454821167 CA399013200 |
2175 | V>L | No |
ClinGen gnomAD |
|
|
CA399013234 rs1212510392 |
2180 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 2183 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001200118 rs2069706454 |
2186 | S>missing | No |
ClinVar dbSNP |
|
|
CA8487365 rs765867354 |
2186 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2189 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399013310 rs1164251278 |
2192 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 2196 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2198 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597843979 RCV001007990 CA399013357 |
2199 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8487372 rs757337764 |
2201 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA399013417 rs1567617506 |
2204 | T>A | No |
ClinGen Ensembl |
|
|
rs1316036089 CA399013434 |
2205 | V>A | No |
ClinGen gnomAD |
|
|
CA399013448 rs1555534885 RCV000604407 |
2206 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs111405163 RCV000681005 CA399013465 |
2207 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs569453543 CA8487375 |
2213 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1189203506 CA399013560 |
2213 | M>T | No |
ClinGen TOPMed |
|
|
rs876660207 CA399013591 RCV000681348 |
2214 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA399013573 rs1306612254 |
2214 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 2216 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399013721 rs1361054024 |
2219 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 2226 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485756462 CA399013862 |
2227 | D>G | No |
ClinGen gnomAD |
|
|
CA399013910 rs1597844657 |
2230 | T>A | No |
ClinGen Ensembl |
|
|
RCV000518990 CA658658589 rs1555534948 |
2238 | F>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399014034 rs1210367831 |
2244 | L>V | No |
ClinGen gnomAD |
|
|
RCV000681384 rs1567617877 |
2251 | V>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 2251 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8487424 rs767980442 |
2256 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs876658541 CA399014127 |
2258 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399014131 rs1348782175 |
2259 | V>L | No |
ClinGen TOPMed |
|
|
rs1555534955 COSM3670200 RCV000657643 COSM3670201 CA399014175 |
2266 | Q>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001092514 rs2069727438 |
2266 | Q>* | No |
ClinVar dbSNP |
|
|
rs562367786 CA8487427 |
2269 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2271 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1060500373 | 2273 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM33676 rs876657715 CA10577038 COSM33675 COSM705652 |
2285 | Y>* | Variant assessed as Somatic; impact. lung soft_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA ClinGen cosmic curated gnomAD |
| rs1555535032 | 2285 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399014330 rs1466737186 |
2287 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399014328 rs1466737186 |
2287 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs943381724 CA289388377 |
2289 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 2292 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs74601006 CA8487447 |
2301 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA399014425 rs1333226474 |
2302 | Q>H | No |
ClinGen gnomAD |
|
|
rs878853025 RCV000224607 |
2304 | L>* | No |
ClinVar dbSNP |
|
|
rs1428830065 CA399014434 |
2304 | L>F | No |
ClinGen gnomAD |
|
| rs1057523533 | 2307 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765418194 CA8487448 |
2307 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2308 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2310 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399014871 rs1158472356 |
2313 | K>E | No |
ClinGen gnomAD |
|
|
rs1421708806 CA399014892 |
2316 | F>L | No |
ClinGen gnomAD |
|
|
CA399014926 rs1333790157 |
2321 | A>V | No |
ClinGen gnomAD |
|
|
CA399014953 rs1374858930 |
2326 | D>H | No |
ClinGen gnomAD |
|
|
CA399014973 rs1597848070 |
2328 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 2339 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2339 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000519866 rs1555535195 CA399015134 |
2345 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399015125 rs1349944181 |
2345 | L>V | No |
ClinGen gnomAD |
|
|
RCV001002381 rs1597848220 |
2347 | S>missing | No |
ClinVar dbSNP |
|
|
rs1441937734 CA399015237 |
2352 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 2352 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs9891398 CA289390379 |
2353 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 2358 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001171933 rs2069865899 |
2358 | E>K | No |
ClinVar dbSNP |
|
| TCGA novel | 2359 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1022562410 CA289396101 |
2361 | M>L | No |
ClinGen Ensembl |
|
|
rs776506332 CA8487499 |
2372 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8487500 rs759375243 |
2375 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs764999370 CA8487501 |
2378 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs763556723 CA8487504 |
2387 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA399015749 rs1245285900 |
2391 | V>I | No |
ClinGen TOPMed |
|
|
CA399016656 rs1567623401 RCV000681430 |
2398 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 2402 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs950181978 CA289400882 |
2406 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 2410 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775181940 CA8487530 |
2413 | L>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000627510 rs1555536027 |
2419 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 2421 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289400925 rs139997141 |
2424 | R>S | No |
ClinGen ESP |
|
|
rs1359563939 CA399016839 |
2427 | D>G | No |
ClinGen gnomAD |
|
|
RCV001289109 rs2070077334 |
2428 | K>missing | No |
ClinVar dbSNP |
|
|
rs750058369 CA8487535 |
2429 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399016867 rs1597858560 |
2431 | V>M | No |
ClinGen Ensembl |
|
|
rs766714610 CA399016890 |
2434 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8487538 rs755478412 |
2437 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2437 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399016923 rs1484172751 |
2440 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 2441 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1064794278 | 2444 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8487562 rs751593609 |
2449 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA399017015 rs1257323685 |
2453 | C>G | No |
ClinGen gnomAD |
|
|
rs1242069663 CA399017016 |
2453 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 2456 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399017044 rs863224664 |
2457 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA289401796 rs1040132838 |
2467 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 2468 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2470 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405212000 CA399017153 |
2474 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399017175 rs1277596310 |
2477 | P>L | No |
ClinGen gnomAD |
|
|
CA8487570 COSM1610057 rs587782119 COSM1610058 |
2479 | H>D | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1215473858 COSM30669 CA399017216 |
2484 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA399017222 rs1022605462 |
2485 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399017497 rs1336098547 |
2497 | P>S | No |
ClinGen gnomAD |
|
|
CA915949859 rs1597862086 RCV001008052 |
2503 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749006006 CA8487602 |
2503 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749006006 CA399017536 |
2503 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1597862129 CA399017564 |
2507 | T>P | No |
ClinGen Ensembl |
|
|
rs1597862168 CA399017628 |
2514 | T>P | No |
ClinGen Ensembl |
|
|
CA399017658 rs866445127 |
2517 | R>G | No |
ClinGen gnomAD |
|
|
rs755260088 CA8487608 |
2517 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA289403904 rs76942774 |
2523 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 2524 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000485296 rs1555536367 |
2526 | M>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 2526 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8487610 rs745846526 |
2533 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8487611 rs745846526 |
2533 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs768366978 CA8487614 |
2538 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2539 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2545 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs864622266 RCV000681101 CA399018033 |
2548 | I>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA8487632 rs756138226 |
2554 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1275713821 CA399018110 |
2559 | M>I | No |
ClinGen gnomAD |
|
|
rs1218492217 CA399018154 |
2566 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 2566 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1060500295 | 2568 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778143477 CA8487639 |
2577 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2577 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1135402907 | 2583 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1555536683 | 2583 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2584 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399018346 rs1182393037 |
2584 | I>V | No |
ClinGen TOPMed |
|
|
rs781717481 CA8487659 |
2585 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs775450260 CA8487661 |
2588 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1064795136 RCV000484718 |
2591 | P>missing | No |
ClinVar dbSNP |
|
|
RCV000712407 rs1567626919 |
2593 | L>missing | No |
ClinVar dbSNP |
|
|
CA289407568 rs926812218 |
2596 | V>I | No |
ClinGen TOPMed |
|
|
CA399018543 rs1263740114 |
2605 | L>V | No |
ClinGen gnomAD |
|
|
RCV000681316 CA399018585 rs1567626984 |
2608 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 2608 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2611 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138839077 RCV000121640 CA161075 |
2613 | P>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
|
rs781437770 CA8487673 |
2619 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1471144465 CA399018705 |
2622 | V>I | No |
ClinGen gnomAD |
|
|
rs751170836 CA8487688 |
2627 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2627 | V>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2628 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2628 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399203406 rs1597866846 RCV001000953 |
2632 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1216647325 CA399203401 |
2632 | D>N | No |
ClinGen gnomAD |
|
|
rs1270344821 CA399203454 |
2640 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 2645 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2646 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487025591 CA399203513 |
2648 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV001288255 rs2070298779 |
2650 | F>missing | No |
ClinVar dbSNP |
|
|
CA399203522 rs1341554037 |
2650 | F>V | No |
ClinGen TOPMed |
|
|
rs1169964502 CA399203535 |
2652 | K>E | No |
ClinGen gnomAD |
|
|
CA289711053 rs1026605370 |
2658 | H>R | No |
ClinGen Ensembl |
|
|
CA399203589 rs1177245412 |
2659 | N>H | No |
ClinGen TOPMed |
|
|
CA289711055 rs995645937 |
2667 | T>A | No |
ClinGen TOPMed |
|
|
rs1260740048 CA399203702 |
2675 | P>L | No |
ClinGen gnomAD |
|
|
rs774409541 CA8487723 |
2682 | H>R | No |
ClinGen ExAC |
|
| TCGA novel | 2683 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1060500387 | 2687 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2688 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2693 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764508546 CA289711057 |
2696 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 2698 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8487754 COSM4129830 rs78610439 |
2711 | L>F | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1421446047 CA399204172 |
2712 | W>L | No |
ClinGen gnomAD |
|
|
rs757391670 CA8487757 |
2713 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs754734389 CA8487758 |
2714 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA8487760 rs758370502 |
2718 | F>L | No |
ClinGen ExAC |
|
|
CA399204415 rs1453592264 |
2727 | Y>C | No |
ClinGen gnomAD |
|
|
CA399204468 rs1450972012 |
2732 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 2732 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399204507 rs1320931283 |
2735 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 2736 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399204535 rs1264511763 |
2737 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 2738 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2741 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2742 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_035545 | 2745 | G>R | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA8487781 rs745472917 |
2747 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1243563067 CA399204783 |
2759 | T>A | No |
ClinGen gnomAD |
|
|
rs779635437 CA8487783 |
2765 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8487786 rs774806968 |
2769 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8487787 rs762336662 |
2772 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA289711213 rs188051126 |
2780 | N>I | No |
ClinGen 1000Genomes |
|
| TCGA novel | 2780 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190137765 CA399205059 |
2783 | T>I | No |
ClinGen gnomAD |
|
|
rs1454723879 CA399205111 |
2789 | Q>R | No |
ClinGen gnomAD |
|
|
rs1567634460 CA399205870 |
2797 | E>K | No |
ClinGen Ensembl |
|
|
CA399205896 rs1597883005 |
2800 | E>D | No |
ClinGen Ensembl |
|
|
CA8487817 rs753479281 |
2800 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs754638282 COSM1167921 COSM1167922 CA8487818 |
2802 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1597883045 CA399205914 |
2804 | T>P | No |
ClinGen Ensembl |
|
|
CA399205945 rs1597883061 |
2808 | C>* | No |
ClinGen Ensembl |
|
|
CA399205962 rs1597883074 |
2810 | S>R | No |
ClinGen Ensembl |
|
|
CA399205976 rs1597883075 |
2813 | T>P | No |
ClinGen Ensembl |
|
|
CA8487823 rs200704523 |
2818 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2825 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8487827 rs773159205 |
2829 | S>N | No |
ClinGen ExAC gnomAD |
6 associated diseases with P21359
[MIM: 162200]: Neurofibromatosis 1 (NF1)
A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. {ECO:0000269|PubMed:10220149, ECO:0000269|PubMed:10336779, ECO:0000269|PubMed:10607834, ECO:0000269|PubMed:10712197, ECO:0000269|PubMed:10980545, ECO:0000269|PubMed:11258625, ECO:0000269|PubMed:11735023, ECO:0000269|PubMed:11857752, ECO:0000269|PubMed:12522551, ECO:0000269|PubMed:12552569, ECO:0000269|PubMed:12746402, ECO:0000269|PubMed:1302608, ECO:0000269|PubMed:15060124, ECO:0000269|PubMed:15146469, ECO:0000269|PubMed:15520408, ECO:0000269|PubMed:15523642, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:17160901, ECO:0000269|PubMed:21089070, ECO:0000269|PubMed:2114220, ECO:0000269|PubMed:21838856, ECO:0000269|PubMed:23758643, ECO:0000269|PubMed:24413922, ECO:0000269|PubMed:7981679, ECO:0000269|PubMed:8081387, ECO:0000269|PubMed:8544190, ECO:0000269|PubMed:8807336, ECO:0000269|PubMed:8834249, ECO:0000269|PubMed:9003501, ECO:0000269|PubMed:9101300, ECO:0000269|PubMed:9150739, ECO:0000269|PubMed:9298829, ECO:0000269|PubMed:9668168}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 607785]: Leukemia, juvenile myelomonocytic (JMML)
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 193520]: Watson syndrome (WTSN)
A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and intellectual disability. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 162210]: Familial spinal neurofibromatosis (FSNF)
Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. {ECO:0000269|PubMed:11704931}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 601321]: Neurofibromatosis-Noonan syndrome (NFNS)
Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. {ECO:0000269|PubMed:12707950, ECO:0000269|PubMed:16380919, ECO:0000269|PubMed:19845691}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 114500]: Colorectal cancer (CRC)
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.
Without disease ID
- A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. {ECO:0000269|PubMed:10220149, ECO:0000269|PubMed:10336779, ECO:0000269|PubMed:10607834, ECO:0000269|PubMed:10712197, ECO:0000269|PubMed:10980545, ECO:0000269|PubMed:11258625, ECO:0000269|PubMed:11735023, ECO:0000269|PubMed:11857752, ECO:0000269|PubMed:12522551, ECO:0000269|PubMed:12552569, ECO:0000269|PubMed:12746402, ECO:0000269|PubMed:1302608, ECO:0000269|PubMed:15060124, ECO:0000269|PubMed:15146469, ECO:0000269|PubMed:15520408, ECO:0000269|PubMed:15523642, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:17160901, ECO:0000269|PubMed:21089070, ECO:0000269|PubMed:2114220, ECO:0000269|PubMed:21838856, ECO:0000269|PubMed:23758643, ECO:0000269|PubMed:24413922, ECO:0000269|PubMed:7981679, ECO:0000269|PubMed:8081387, ECO:0000269|PubMed:8544190, ECO:0000269|PubMed:8807336, ECO:0000269|PubMed:8834249, ECO:0000269|PubMed:9003501, ECO:0000269|PubMed:9101300, ECO:0000269|PubMed:9150739, ECO:0000269|PubMed:9298829, ECO:0000269|PubMed:9668168}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by variants affecting the gene represented in this entry.
- A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and intellectual disability. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by variants affecting the gene represented in this entry.
- Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. {ECO:0000269|PubMed:11704931}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. {ECO:0000269|PubMed:12707950, ECO:0000269|PubMed:16380919, ECO:0000269|PubMed:19845691}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| phosphatidylcholine binding | Binding to a phosphatidylcholine, a glycophospholipid in which a phosphatidyl group is esterified to the hydroxyl group of choline. |
| phosphatidylethanolamine binding | Binding to a phosphatidylethanolamine, a class of glycerophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of ethanolamine. |
95 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| adrenal gland development | The process whose specific outcome is the progression of the adrenal gland over time, from its formation to the mature structure. This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells. |
| amygdala development | The progression of the amygdala over time from its initial formation until its mature state. The amygdala is an almond-shaped set of neurons in the medial temporal lobe of the brain that play a key role in processing emotions such as fear and pleasure. |
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| artery morphogenesis | The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| camera-type eye morphogenesis | The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| cell communication | Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. |
| cellular response to heat | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| cerebral cortex development | The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. |
| cognition | The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. |
| collagen fibril organization | Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. |
| endothelial cell proliferation | The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| extrinsic apoptotic signaling pathway in absence of ligand | The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with withdrawal of a ligand from a cell surface receptor, and ends when the execution phase of apoptosis is triggered. |
| extrinsic apoptotic signaling pathway via death domain receptors | The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with a ligand binding to a death domain receptor on the cell surface, and ends when the execution phase of apoptosis is triggered. |
| fibroblast proliferation | The multiplication or reproduction of fibroblast cells, resulting in the expansion of the fibroblast population. |
| forebrain astrocyte development | The process aimed at the progression of an astrocyte that resides in the forebrain, from initial commitment of the cell to its fate, to the fully functional differentiated cell. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function. |
| forebrain morphogenesis | The process in which the anatomical structures of the forebrain are generated and organized. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| gamma-aminobutyric acid secretion, neurotransmission | The regulated release of gamma-aminobutyric acid by a cell, in which the gamma-aminobutyric acid acts as a neurotransmitter. |
| glutamate secretion, neurotransmission | The controlled release of glutamate by a cell, in which the glutamate acts as a neurotransmitter. |
| hair follicle maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| liver development | The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| mast cell apoptotic process | Any apoptotic process in a mast cell, a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. |
| mast cell proliferation | The expansion of a mast cell population by cell division. |
| metanephros development | The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine. |
| myelination in peripheral nervous system | The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| myeloid leukocyte migration | The movement of a myeloid leukocyte within or between different tissues and organs of the body. |
| negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
| negative regulation of astrocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of astrocyte differentiation. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of cell-matrix adhesion | Any process that stops, prevents, or reduces the rate or extent of cell adhesion to the extracellular matrix. |
| negative regulation of endothelial cell proliferation | Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation. |
| negative regulation of fibroblast proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
| negative regulation of leukocyte migration | Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. |
| negative regulation of MAP kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity. |
| negative regulation of MAPK cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade. |
| negative regulation of mast cell proliferation | Any process that stops, prevents or reduces the rate or extent of mast cell proliferation. |
| negative regulation of neuroblast proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of the proliferation of neuroblasts. |
| negative regulation of neurotransmitter secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter. |
| negative regulation of oligodendrocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of oligodendrocyte differentiation. |
| negative regulation of osteoclast differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. |
| negative regulation of protein import into nucleus | Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of proteins from the cytoplasm into the nucleus. |
| negative regulation of protein kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
| negative regulation of Rac protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Rac protein signal transduction. |
| negative regulation of Schwann cell migration | Any process that stops, prevents or reduces the frequency, rate or extent of Schwann cell migration. |
| negative regulation of Schwann cell proliferation | Any process that decreases the frequency or extent of the multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. |
| negative regulation of stem cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of stem cell proliferation. |
| negative regulation of vascular associated smooth muscle cell migration | Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration. |
| neural tube development | The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. |
| neuroblast proliferation | The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron. |
| neuron apoptotic process | Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. |
| observational learning | Learning that occurs through observing the behavior of others. |
| oligodendrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| osteoclast differentiation | The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. |
| peripheral nervous system development | The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. |
| phosphatidylinositol 3-kinase signaling | A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. |
| pigmentation | The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. |
| positive regulation of adenylate cyclase activity | Any process that activates or increases the frequency, rate or extent of adenylate cyclase activity. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
| positive regulation of extrinsic apoptotic signaling pathway in absence of ligand | Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of mast cell apoptotic process | Any process that activates or increases the frequency, rate, or extent of mast cell apoptotic process. |
| positive regulation of neuron apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process. |
| positive regulation of vascular associated smooth muscle cell proliferation | Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| Rac protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rac family of proteins switching to a GTP-bound active state. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
| regulation of angiogenesis | Any process that modulates the frequency, rate or extent of angiogenesis. |
| regulation of blood vessel endothelial cell migration | Any process that modulates the frequency, rate or extent of the migration of the endothelial cells of blood vessels. |
| regulation of bone resorption | Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). |
| regulation of cell-matrix adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to the extracellular matrix. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of glial cell differentiation | Any process that modulates the frequency, rate or extent of glia cell differentiation. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| regulation of long-term neuronal synaptic plasticity | A process that modulates long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers. |
| regulation of long-term synaptic potentiation | Any process that modulates the frequency, rate or extent of long-term synaptic potentiation. |
| regulation of synaptic transmission, GABAergic | Any process that modulates the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| Schwann cell development | The process aimed at the progression of a Schwann cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function. |
| Schwann cell migration | The orderly movement of a Schwann cell from one site to another. A Schwann cell is a glial cell that ensheathes axons of neuron in the peripheral nervous system and is necessary for their maintainance and function. |
| Schwann cell proliferation | The multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. |
| skeletal muscle tissue development | The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers. |
| smooth muscle tissue development | The process whose specific outcome is the progression of smooth muscle over time, from its formation to the mature structure. |
| spinal cord development | The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues. |
| stem cell proliferation | The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| sympathetic nervous system development | The process whose specific outcome is the progression of the sympathetic nervous system over time, from its formation to the mature structure. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter. |
| vascular associated smooth muscle cell migration | The orderly movement of a vascular associated smooth muscle cell from one site to another. |
| vascular associated smooth muscle cell proliferation | The multiplication or reproduction of vascular smooth muscle cells, resulting in the expansion of a cell population. A vascular smooth muscle cell is a non-striated, elongated, spindle-shaped cell found lining the blood vessels. |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
| wound healing | The series of events that restore integrity to a damaged tissue, following an injury. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51955 | NEK2 | Serine/threonine-protein kinase Nek2 | Homo sapiens (Human) | EV |
| O95294 | RASAL1 | RasGAP-activating-like protein 1 | Homo sapiens (Human) | PR |
| Q86YV0 | RASAL3 | RAS protein activator like-3 | Homo sapiens (Human) | PR |
| Q5VWQ8 | DAB2IP | Disabled homolog 2-interacting protein | Homo sapiens (Human) | PR |
| O35942 | Nek2 | Serine/threonine-protein kinase Nek2 | Mus musculus (Mouse) | PR |
| Q04690 | Nf1 | Neurofibromin | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAHRPVEWV | QAVVSRFDEQ | LPIKTGQQNT | HTKVSTEHNK | ECLINISKYK | FSLVISGLTT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILKNVNNMRI | FGEAAEKNLY | LSQLIILDTL | EKCLAGQPKD | TMRLDETMLV | KQLLPEICHF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LHTCREGNQH | AAELRNSASG | VLFSLSCNNF | NAVFSRISTR | LQELTVCSED | NVDVHDIELL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QYINVDCAKL | KRLLKETAFK | FKALKKVAQL | AVINSLEKAF | WNWVENYPDE | FTKLYQIPQT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DMAECAEKLF | DLVDGFAEST | KRKAAVWPLQ | IILLILCPEI | IQDISKDVVD | ENNMNKKLFL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DSLRKALAGH | GGSRQLTESA | AIACVKLCKA | STYINWEDNS | VIFLLVQSMV | VDLKNLLFNP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SKPFSRGSQP | ADVDLMIDCL | VSCFRISPHN | NQHFKICLAQ | NSPSTFHYVL | VNSLHRIITN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SALDWWPKID | AVYCHSVELR | NMFGETLHKA | VQGCGAHPAI | RMAPSLTFKE | KVTSLKFKEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PTDLETRSYK | YLLLSMVKLI | HADPKLLLCN | PRKQGPETQG | STAELITGLV | QLVPQSHMPE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IAQEAMEALL | VLHQLDSIDL | WNPDAPVETF | WEISSQMLFY | ICKKLTSHQM | LSSTEILKWL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| REILICRNKF | LLKNKQADRS | SCHFLLFYGV | GCDIPSSGNT | SQMSMDHEEL | LRTPGASLRK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GKGNSSMDSA | AGCSGTPPIC | RQAQTKLEVA | LYMFLWNPDT | EAVLVAMSCF | RHLCEEADIR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CGVDEVSVHN | LLPNYNTFME | FASVSNMMST | GRAALQKRVM | ALLRRIEHPT | AGNTEAWEDT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HAKWEQATKL | ILNYPKAKME | DGQAAESLHK | TIVKRRMSHV | SGGGSIDLSD | TDSLQEWINM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TGFLCALGGV | CLQQRSNSGL | ATYSPPMGPV | SERKGSMISV | MSSEGNADTP | VSKFMDRLLS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LMVCNHEKVG | LQIRTNVKDL | VGLELSPALY | PMLFNKLKNT | ISKFFDSQGQ | VLLTDTNTQF |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VEQTIAIMKN | LLDNHTEGSS | EHLGQASIET | MMLNLVRYVR | VLGNMVHAIQ | IKTKLCQLVE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| VMMARRDDLS | FCQEMKFRNK | MVEYLTDWVM | GTSNQAADDD | VKCLTRDLDQ | ASMEAVVSLL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| AGLPLQPEEG | DGVELMEAKS | QLFLKYFTLF | MNLLNDCSEV | EDESAQTGGR | KRGMSRRLAS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LRHCTVLAMS | NLLNANVDSG | LMHSIGLGYH | KDLQTRATFM | EVLTKILQQG | TEFDTLAETV |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| LADRFERLVE | LVTMMGDQGE | LPIAMALANV | VPCSQWDELA | RVLVTLFDSR | HLLYQLLWNM |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| FSKEVELADS | MQTLFRGNSL | ASKIMTFCFK | VYGATYLQKL | LDPLLRIVIT | SSDWQHVSFE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| VDPTRLEPSE | SLEENQRNLL | QMTEKFFHAI | ISSSSEFPPQ | LRSVCHCLYQ | ATCHSLLNKA |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| TVKEKKENKK | SVVSQRFPQN | SIGAVGSAMF | LRFINPAIVS | PYEAGILDKK | PPPRIERGLK |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| LMSKILQSIA | NHVLFTKEEH | MRPFNDFVKS | NFDAARRFFL | DIASDCPTSD | AVNHSLSFIS |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| DGNVLALHRL | LWNNQEKIGQ | YLSSNRDHKA | VGRRPFDKMA | TLLAYLGPPE | HKPVADTHWS |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| SLNLTSSKFE | EFMTRHQVHE | KEEFKALKTL | SIFYQAGTSK | AGNPIFYYVA | RRFKTGQING |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| DLLIYHVLLT | LKPYYAKPYE | IVVDLTHTGP | SNRFKTDFLS | KWFVVFPGFA | YDNVSAVYIY |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| NCNSWVREYT | KYHERLLTGL | KGSKRLVFID | CPGKLAEHIE | HEQQKLPAAT | LALEEDLKVF |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| HNALKLAHKD | TKVSIKVGST | AVQVTSAERT | KVLGQSVFLN | DIYYASEIEE | ICLVDENQFT |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| LTIANQGTPL | TFMHQECEAI | VQSIIHIRTR | WELSQPDSIP | QHTKIRPKDV | PGTLLNIALL |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| NLGSSDPSLR | SAAYNLLCAL | TCTFNLKIEG | QLLETSGLCI | PANNTLFIVS | ISKTLAANEP |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| HLTLEFLEEC | ISGFSKSSIE | LKHLCLEYMT | PWLSNLVRFC | KHNDDAKRQR | VTAILDKLIT |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| MTINEKQMYP | SIQAKIWGSL | GQITDLLDVV | LDSFIKTSAT | GGLGSIKAEV | MADTAVALAS |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| GNVKLVSSKV | IGRMCKIIDK | TCLSPTPTLE | QHLMWDDIAI | LARYMLMLSF | NNSLDVAAHL |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| PYLFHVVTFL | VATGPLSLRA | STHGLVINII | HSLCTCSQLH | FSEETKQVLR | LSLTEFSLPK |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| FYLLFGISKV | KSAAVIAFRS | SYRDRSFSPG | SYERETFALT | SLETVTEALL | EIMEACMRDI |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| PTCKWLDQWT | ELAQRFAFQY | NPSLQPRALV | VFGCISKRVS | HGQIKQIIRI | LSKALESCLK |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| GPDTYNSQVL | IEATVIALTK | LQPLLNKDSP | LHKALFWVAV | AVLQLDEVNL | YSAGTALLEQ |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| NLHTLDSLRI | FNDKSPEEVF | MAIRNPLEWH | CKQMDHFVGL | NFNSNFNFAL | VGHLLKGYRH |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| PSPAIVARTV | RILHTLLTLV | NKHRNCDKFE | VNTQSVAYLA | ALLTVSEEVR | SRCSLKHRKS |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| LLLTDISMEN | VPMDTYPIHH | GDPSYRTLKE | TQPWSSPKGS | EGYLAATYPT | VGQTSPRARK |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| SMSLDMGQPS | QANTKKLLGT | RKSFDHLISD | TKAPKRQEME | SGITTPPKMR | RVAETDYEME |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| TQRISSSQQH | PHLRKVSVSE | SNVLLDEEVL | TDPKIQALLL | TVLATLVKYT | TDEFDQRILY |
| 2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
| EYLAEASVVF | PKVFPVVHNL | LDSKINTLLS | LCQDPNLLNP | IHGIVQSVVY | HEESPPQYQT |
| 2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
| SYLQSFGFNG | LWRFAGPFSK | QTQIPDYAEL | IVKFLDALID | TYLPGIDEET | SEESLLTPTS |
| 2770 | 2780 | 2790 | 2800 | 2810 | 2820 |
| PYPPALQSQL | SITANLNLSN | SMTSLATSQH | SPGIDKENVE | LSPTTGHCNS | GRTRHGSASQ |
| 2830 | |||||
| VQKQRSAGSF | KRNSIKKIV |