Q15831
PR
Gene name |
STK11 |
Protein name |
Serine/threonine-protein kinase STK11 |
Names |
Liver kinase B1, LKB1, hLKB1, Renal carcinoma antigen NY-REN-19 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6794 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
193-218 (Activation loop from InterPro)
Target domain |
49-309 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
4 structures for Q15831
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2WTK | X-ray | 265 A | C/F | 43-347 | PDB |
| 4ZDR | X-ray | 290 A | A/B | 333-340 | PDB |
| 5WXN | X-ray | 293 A | C/D | 331-343 | PDB |
| AF-Q15831-F1 | Predicted | AlphaFoldDB |
952 variants for Q15831
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2080669644 RCV001187941 |
1 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402942916 rs1159551738 RCV000581495 RCV001764711 RCV000811637 |
2 | E>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000804942 RCV002257967 CA402942914 rs1599914695 |
2 | E>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10652247 RCV000569286 rs886054216 RCV000347967 |
3 | V>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs906049559 CA304016681 RCV001179969 RCV001875963 |
3 | V>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs906049559 CA16620743 RCV000632816 RCV000483652 RCV001178630 |
3 | V>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001187164 rs1555734848 RCV000527573 |
4 | V>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599914720 RCV002350638 RCV001346665 |
4 | V>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000701189 CA402942957 rs767300470 CA045160 |
4 | V>L | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001858141 COSM3724559 rs767300470 RCV000563171 CA402942954 |
4 | V>M | lung Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
RCV001041297 RCV002391119 rs1178249537 CA402943017 |
5 | D>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001525629 rs775346785 RCV001213601 |
6 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA046464 rs775346785 RCV000802367 RCV001013222 |
6 | P>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000807083 rs1360284524 CA402943031 |
6 | P>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1599914747 CA915951607 RCV000815055 |
7 | Q>K | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632809 CA046619 rs760588289 RCV001015109 |
8 | Q>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000554676 RCV001015729 CA402943086 CA402943091 rs1379630288 |
8 | Q>H | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001190513 rs764154797 RCV001247437 |
9 | L>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661079 RCV001046088 RCV002485442 RCV001016064 RCV000221102 CA10577590 |
9 | L>V | Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001337492 rs2080670108 |
10 | G>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000581026 rs1555734875 |
11 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757411357 CA047149 RCV001808579 RCV000217440 |
11 | M>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753834428 RCV001019148 RCV000695432 RCV002268255 RCV002287438 CA402943119 |
11 | M>L | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753834428 RCV000232648 CA047107 RCV000222194 RCV000485960 |
11 | M>V | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA402943176 RCV000820072 rs1599914790 RCV001181154 |
13 | T>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750708224 RCV000165124 RCV000632805 CA022924 |
14 | E>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000533697 RCV002330840 rs1458974438 CA402943230 |
15 | G>D | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000471272 CA16616212 RCV001022426 rs1060499970 |
15 | G>S | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_065628 | 16 | E>G | PJS [UniProt] | Yes | UniProt |
|
RCV001238406 CA402943242 rs1179004732 |
16 | E>K | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2080670397 RCV001068126 |
17 | L>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780581573 RCV000526066 CA047985 RCV000774552 |
17 | L>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001047448 CA048043 rs755436889 CA048056 RCV001024190 RCV000570526 RCV001219409 |
18 | M>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA023063 RCV000131221 RCV000541150 rs587782318 |
18 | M>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575786 RCV000798678 rs1555734894 CA089423 |
18 | M>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000663263 CA402943356 RCV000777388 rs1426026332 |
19 | S>L | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA402943365 rs1555734898 RCV000542775 |
20 | V>L | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402943363 RCV002352225 rs1555734898 RCV000707650 |
20 | V>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080670569 RCV001217112 |
21 | G>C | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039056 rs1064793751 |
21 | G>C | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA089436 RCV000776368 RCV000485517 rs1064793751 RCV000809834 |
21 | G>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000801710 rs1599914859 CA402943433 |
22 | M>I | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402943423 rs1599914854 RCV001025447 |
22 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1174992777 RCV001025339 CA402943405 RCV001044306 |
22 | M>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2080670725 RCV001264565 |
23 | D>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555734904 RCV000568657 |
23 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001809951 rs1599914867 RCV001284358 RCV001025894 CA402943473 RCV001238401 |
23 | D>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
rs2080670686 RCV001218270 |
23 | D>H | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA048511 RCV000568581 rs770503805 RCV000472539 |
24 | T>M | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402943491 RCV001295486 RCV000772378 rs770503805 |
24 | T>R | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000527741 CA402943520 RCV002404387 rs1555734913 |
26 | I>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568689930 RCV000709570 |
28 | R>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792451 CA089442 rs1331020864 |
28 | R>H | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA348921 RCV000204714 rs864622719 RCV002267943 |
29 | I>F | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572006 rs771765869 RCV001809609 CA049487 |
30 | D>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000492722 rs1131690930 |
32 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561474 RCV000229700 RCV000479327 rs755210880 CA049791 |
32 | T>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001052181 rs2080670808 |
33 | E>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224363 RCV000231274 CA10583780 |
33 | E>D | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786201782 RCV000164824 CA022145 |
34 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164249 CA022138 rs786201782 |
34 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022205 RCV000467257 RCV001844047 rs587781437 RCV000129339 |
35 | I>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1568689994 RCV000707328 |
36 | Y>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492692 rs1131690924 |
36 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022287 CA402943853 rs137853079 RCV000007878 RCV000574820 COSM20947 |
36 | Y>* | Carcinoma of pancreas pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1555734937 RCV001775132 RCV000567905 CA402943845 |
36 | Y>C | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913324 COSM12925 RCV000492327 CA16602777 RCV000424203 RCV000553835 |
37 | Q>* | lung Neoplasm Hereditary cancer-predisposing syndrome stomach Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001809799 rs1568690022 CA402943890 RCV000772434 |
37 | Q>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000541391 RCV000579877 RCV001798875 CA089242 rs1060499954 |
38 | P>A | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402943905 RCV000691132 RCV000777884 rs1568690036 |
38 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402943907 RCV001805858 rs1568690036 RCV000792286 |
38 | P>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060499954 RCV001315492 RCV002322224 |
38 | P>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616001 rs1060499954 RCV000474390 |
38 | P>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223060 RCV000558704 rs876658779 CA089256 COSM1611555 |
39 | R>C | liver Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs786203250 RCV000796502 CA402943919 RCV000564913 |
39 | R>H | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000780767 CA022398 RCV000204326 RCV000222577 rs786203250 RCV000166477 |
39 | R>L | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555734954 CA402943929 RCV000551324 |
40 | R>G | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774900889 RCV001248225 RCV002339692 |
40 | R>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804943 rs761762690 RCV002256528 CA402943964 |
41 | K>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000689479 rs1568690070 RCV001010400 CA402943949 |
41 | K>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000528814 TCGA novel rs1555734959 CA402943954 |
41 | K>T | Peutz-Jeghers syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
rs148830698 RCV000766867 RCV000460664 RCV000483419 RCV000566963 CA046189 RCV001357284 |
42 | R>L | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs148830698 RCV000220188 CA10577591 RCV001010594 RCV001297981 |
42 | R>Q | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs765367492 CA046107 RCV001178794 RCV001875910 |
42 | R>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA402943991 RCV000820260 rs1555734967 RCV000565536 |
43 | A>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466541 rs1060499961 |
44 | K>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881958 RCV000160967 |
45 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568690121 RCV003117510 RCV000708762 CA402944011 |
45 | L>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048259 rs2080671593 |
46 | I>M | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225160 rs1555734974 |
48 | K>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766776431 RCV001321016 CA402944046 RCV000609565 RCV000772687 |
48 | K>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA022658 rs137853080 COSM20941 VAR_033138 RCV000007882 |
49 | Y>D | Melanoma, cutaneous malignant, susceptibility to, 1 skin melanoma; sporadic malignant; somatic mutation [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1599915047 CA402944060 RCV001011752 |
49 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1667051 RCV000144661 rs587783061 CA022663 |
50 | L>R | soft_tissue Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| VAR_071057 | 50 | L>del | PJS [UniProt] | Yes | UniProt |
|
RCV000778089 rs1568690161 |
51 | M>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001182869 TCGA novel rs2080671791 |
51 | M>I | Variant assessed as Somatic; impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar dbSNP |
|
RCV000492248 rs1131690916 |
51 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000161009 RCV000470806 CA402944074 rs730881986 RCV000579540 RCV001011961 CA022670 |
51 | M>L | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs730881986 RCV001066045 RCV002393319 |
51 | M>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690917 RCV000693516 RCV000492735 |
52 | G>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690917 RCV002404753 RCV000492531 RCV000632819 |
53 | D>missing | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213337 CA10580996 rs876660426 |
53 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555734984 RCV000692857 CA402944096 |
53 | D>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492760 RCV000583353 RCV002523987 rs1131690953 |
53 | D>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555734984 RCV000582919 CA402944098 |
53 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131690943 CA402944120 RCV000492311 |
55 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492387 RCV001808309 rs121913319 RCV000078911 |
57 | E>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854584 COSM29464 CA022691 RCV000007873 |
57 | E>* | cervix Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001036911 rs2080672099 |
58 | G>D | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690942 CA402944155 RCV000492751 |
58 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000818544 rs876661128 CA402944180 |
59 | S>F | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080672150 RCV001242811 |
59 | S>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661012 CA10577593 COSM48900 COSM20874 RCV001808581 RCV000216923 |
60 | Y>* | Variant assessed as Somatic; impact. lung Peutz-Jeghers syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000492762 COSM48900 RCV000540715 COSM20874 RCV000492522 RCV000550769 CA402944198 CA402944201 rs778376925 |
60 | Y>* | lung Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD NCI-TCGA |
|
RCV000813229 rs1555735008 RCV000598927 RCV001178644 |
60 | Y>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000525862 rs1555735001 |
61 | G>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2080672271 RCV001065836 |
61 | G>D | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA046491 RCV000580228 rs368993118 |
61 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA402944244 RCV000709571 rs1568690276 |
63 | V>A | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131690936 RCV000492429 |
65 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402944275 rs1568690287 RCV000772837 |
65 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599915131 RCV000796991 |
66 | V>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001524349 rs1599915144 CA402944278 RCV000791472 COSM21384 VAR_065629 |
66 | V>M | cervix Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome cervical carcinoma; somatic mutation [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000804860 RCV000508299 rs1555735014 |
67 | L>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007877 rs397518441 |
67 | L>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492681 RCV000440305 RCV000007871 rs137853077 VAR_006202 CA022714 |
67 | L>P | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome PJS; abolishes kinase activity, leading to loss of autophosphorylation [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001213750 rs779734289 |
68 | D>Y | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061780 RCV001181514 rs1473347455 COSM1390405 CA089296 |
69 | S>L | large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001345194 rs2080672529 |
69 | S>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1473347455 RCV001313775 RCV000561253 CA402944323 |
69 | S>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080672614 RCV002418545 RCV001066252 |
70 | E>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492465 rs1131690929 |
71 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695026 CA402944344 rs1568690334 |
71 | T>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881959 RCV000160968 |
73 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000709572 rs1568690354 CA402944373 |
73 | C>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599915199 CA089299 RCV001014878 |
75 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001873257 CA402944401 rs1599915204 RCV001014926 |
75 | R>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000203924 rs773422811 CA046603 |
76 | A>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000703826 rs1167680274 CA402944419 |
77 | V>I | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035408 rs2080672927 |
78 | K>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216535 TCGA novel rs2080672927 |
78 | K>T | Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000632817 RCV002431871 CA402944458 rs1131690927 |
80 | L>F | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492758 CA402944457 rs1131690927 RCV001316347 |
80 | L>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015503 rs1599915235 |
81 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2080673023 RCV001297639 RCV001181882 |
81 | K>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217470 rs1555735046 CA402944473 RCV000565413 |
81 | K>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1400078073 RCV001015760 CA402944503 |
83 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA046692 RCV000217408 rs374006397 RCV000539793 RCV000565378 |
83 | K>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000130530 RCV000693561 rs587782056 |
84 | K>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022756 COSM3388586 rs137853076 RCV000132431 RCV000007869 RCV000760079 |
84 | K>* | pancreas Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000632832 CA402944528 rs1057520039 |
86 | R>* | Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000444791 COSM29006 CA16603148 VAR_065630 rs1057520039 |
86 | R>G | lung Squamous cell lung carcinoma sporadic cancer; somatic mutation; no effect on kinase activity nor in heterotrimeric complex assembly with STRADA and CAB39 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001043113 rs2080673271 |
88 | I>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2080673286 RCV001324590 |
88 | I>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402944564 RCV001016141 rs1599915282 RCV001343233 |
89 | P>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402944610 rs1288388685 RCV001063234 RCV001016585 |
93 | A>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001219130 rs1333336656 RCV002436843 CA089311 |
95 | V>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000221350 RCV001778804 RCV001808578 CA10580997 rs876658314 |
96 | K>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436817 RCV001212374 rs2080673579 |
97 | K>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057998 rs2080673604 |
97 | K>* | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062565 rs1599924529 |
97 | K>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131468 RCV000803794 CA022795 RCV002509240 rs559620061 |
99 | I>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000781895 RCV000775650 RCV000632835 rs757841535 CA046976 |
100 | Q>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402947648 RCV002440421 RCV000685676 rs765890997 |
100 | Q>H | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001293537 RCV000569984 RCV001798818 rs1060499957 CA16616221 RCV000468289 |
100 | Q>R | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587780716 CA022804 RCV000588542 RCV000123058 RCV000568071 |
101 | L>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA402947660 RCV000576011 rs1555737397 |
102 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000777404 CA402947664 rs1568703342 RCV001856143 |
103 | R>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080758446 RCV001047992 |
103 | R>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000233314 rs587782783 RCV000160999 RCV000569641 CA022810 |
104 | R>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA089322 rs1406974389 RCV000580871 |
104 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000206610 RCV000760081 RCV003150093 rs780749732 RCV000563750 CA350622 RCV001127998 |
104 | R>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
CA022815 RCV000227082 RCV000132324 rs587782783 |
104 | R>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2080758521 RCV001209963 |
105 | L>* | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA336618 rs375622587 RCV000196673 RCV000583216 |
106 | R>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000573267 CA047077 RCV000796866 RCV000479549 rs375622587 |
106 | R>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000220149 rs587782115 RCV000204388 CA022819 RCV000130634 |
106 | R>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000434992 CA16603149 rs1057520040 RCV002323584 |
108 | K>R | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002519067 rs886041996 RCV000346053 |
109 | N>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402947723 RCV000821891 rs1599924587 |
109 | N>H | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457693 CA022828 rs771049807 RCV000165050 |
112 | Q>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000632821 RCV000772391 CA402947764 rs1555737431 |
112 | Q>H | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568703490 RCV000776954 CA402947763 |
112 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402947770 rs1555737432 RCV001809682 RCV000584425 |
113 | L>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804710 CA402947807 rs1599924608 |
116 | V>A | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035367 rs2080758837 |
117 | L>F | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000553716 rs1296728798 CA402947818 RCV003159758 |
117 | L>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555737439 RCV001067850 |
118 | Y>* | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555737444 RCV000563941 |
119 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564055 rs545015076 CA047166 RCV000205670 RCV001356672 |
119 | N>D | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs775595174 RCV000492438 RCV000480132 COSM20875 CA16620744 RCV001809438 |
120 | E>* | lung Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001307294 rs1205003744 |
120 | E>A | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775595174 RCV000579450 RCV002307554 RCV002509454 CA047186 RCV001293888 RCV000701376 |
120 | E>K | Carcinoma of pancreas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA402947877 RCV000532432 rs1555737454 |
121 | E>G | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632827 CA402947889 rs1555737463 |
122 | K>Q | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080759053 RCV001229096 |
122 | K>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492296 rs1131690933 |
123 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402947913 RCV001856951 rs1131690925 COSM380443 RCV000492251 |
123 | Q>* | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast Peutz-Jeghers syndrome [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_065631 rs764449808 RCV001861484 RCV001525032 RCV000420556 CA047202 COSM25853 |
123 | Q>R | lung Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome sporadic cancer; somatic mutation; no effect on kinase activity nor in heterotrimeric complex assembly with STRADA and CAB39 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1131690952 RCV000492673 |
125 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1421605142 CA402948074 RCV001021067 RCV000816344 |
125 | M>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000129014 rs587781303 CA022862 |
126 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402948103 rs1555737753 RCV000567764 |
127 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021171 rs1599925292 RCV000800341 CA402948091 |
127 | M>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599925301 RCV001021306 CA402948112 |
129 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021366 CA402948128 rs1599925303 |
130 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021459 CA402948145 rs1599925307 |
131 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205945 rs864622707 |
132 | C>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1611565 rs730881969 CA022867 RCV000492214 |
132 | C>* | liver Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2080765290 RCV001056706 |
132 | C>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049876 rs730881969 |
132 | C>W | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000161000 RCV000781888 RCV000411610 CA022888 RCV000761133 RCV000575310 rs567769257 |
133 | V>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome Hepatoblastoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587782424 RCV000703819 RCV000161008 |
134 | C>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA047520 RCV001178795 rs778868074 RCV001230390 |
134 | C>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000807135 CA402948193 rs1599925335 |
135 | G>A | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM20942 VAR_033139 CA022896 rs137853081 RCV000007883 |
135 | G>R | Melanoma, cutaneous malignant, susceptibility to, 1 skin melanoma; sporadic malignant; somatic mutation [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA022903 RCV002517622 rs786202544 RCV000165401 |
136 | M>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000520340 rs1060499958 RCV000463079 RCV000492630 RCV001199886 CA16616220 |
136 | M>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000701965 CA402948199 rs1568705410 |
136 | M>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881970 RCV000492356 COSM48901 CA022914 |
137 | Q>* | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000164582 rs730881970 RCV001808439 CA022909 |
137 | Q>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689708 CA402948211 rs1568705439 |
137 | Q>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599925362 RCV001050610 RCV000850457 |
140 | L>missing | Marfanoid habitus and intellectual disability Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397518440 RCV000492134 RCV000007875 |
140 | L>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632845 rs1555737790 CA402948248 |
140 | L>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549548 RCV001022131 rs1213608514 CA089378 |
142 | S>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1568705518 CA402948269 RCV000797412 RCV000781893 |
142 | S>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1380135986 RCV000656476 CA402948285 |
143 | V>A | Breast cancer, susceptibility to [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001269189 RCV000579569 RCV001836837 RCV000545253 rs779987540 CA402948278 |
143 | V>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704757 RCV001187834 RCV000484471 CA16620745 rs1006375117 |
144 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000781891 rs369764220 RCV001785473 CA022939 RCV000123059 RCV000566308 |
145 | E>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000773845 CA402948298 rs1241537285 |
145 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000560069 CA402948314 RCV001022388 rs1555737812 |
146 | K>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555737814 RCV000656431 |
147 | R>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA047635 RCV000198395 RCV001540776 RCV000573355 rs748464757 |
147 | R>C | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000216877 CA022946 rs587780717 RCV000565548 RCV000123060 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2080765851 RCV001214530 |
148 | F>C | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492754 rs1131690926 |
149 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047030 rs2080765884 |
149 | P>S | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781802 RCV000130068 CA022959 RCV001557521 RCV000199606 RCV000582047 |
150 | V>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781802 CA402948356 RCV000706179 |
150 | V>E | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001322781 rs1225872771 |
150 | V>L | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210961 rs1225872771 CA402948351 RCV001186709 |
150 | V>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000632806 CA402948383 rs1555737824 |
153 | A>D | Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA402948385 RCV000565289 rs1555737824 |
153 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853988 CA10583784 RCV000233110 RCV002338706 |
154 | H>D | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211988 RCV002339549 rs878853988 |
154 | H>Y | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757931 rs1555737830 CA402948399 RCV000582858 |
155 | G>E | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000705698 CA402948397 RCV000572049 CA047657 rs763353991 RCV000706630 RCV000219328 |
155 | G>R | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000775651 RCV000632834 rs763353991 CA047668 |
155 | G>W | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000632808 rs786201349 CA402948779 |
156 | Y>* | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350556 rs1431247846 CA402948795 RCV001762604 |
158 | C>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1568707502 RCV000692416 CA402948801 |
158 | C>Y | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000522813 rs1131690938 RCV000492167 CA402948829 RCV001809447 |
161 | I>F | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_007920 | 162 | D>NDM | PJS [UniProt] | Yes | UniProt |
|
COSM25852 RCV000431280 CA16603120 rs730881972 |
163 | G>C | lung Squamous cell lung carcinoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000492740 COSM21352 RCV000007874 rs137853078 CA023051 VAR_033140 |
163 | G>D | Hereditary cancer-predisposing syndrome testis Malignant tumor of testis TGCT; a tumor with seminoma and teratoma components; associated with severely impaired but detectable kinase activity; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; predominantly nuclear localization [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA023047 RCV000492450 rs730881972 |
163 | G>R | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555738205 RCV000818713 CA402948884 |
166 | Y>* | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492215 rs1131690922 |
168 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754986576 RCV001344173 |
168 | H>Q | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303341 rs2080774259 |
169 | S>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121913323 COSM20943 CA023056 RCV002512881 RCV000434489 RCV000007881 |
170 | Q>* | lung Neoplasm Melanoma, cutaneous malignant, susceptibility to, 1 skin Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000793992 rs121913323 CA402948924 |
170 | Q>E | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_065634 RCV001222958 rs876659972 |
170 | Q>P | Peutz-Jeghers syndrome sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001218721 COSM1390426 rs876659972 RCV000213876 CA10581002 |
170 | Q>R | large_intestine Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000801323 rs1599926499 COSM21354 VAR_065635 CA402948937 RCV001023575 |
171 | G>S | large_intestine Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome colorectal cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA10581003 COSM2815328 RCV000216862 rs876659126 |
174 | H>Y | kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000632843 rs1450703616 RCV002343226 CA402948986 |
175 | K>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002345815 CA402948994 RCV000806375 rs1599926514 |
175 | K>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599926521 RCV001023827 |
176 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658393 RCV000705710 CA402949017 |
176 | D>E | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000760083 CA023060 rs730881979 RCV002345554 RCV000429467 VAR_071058 |
176 | D>N | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome PJS; loss of kinase activity, leading to greatly reduced autophosphorylation; fails to phosphorylate PTEN in vitro; no significant effect on nucleocytoplasmic localization [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1057520041 RCV000418761 VAR_065638 CA16603150 |
177 | I>N | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555738219 RCV000542348 |
178 | K>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572383 CA402949063 rs1555738225 |
178 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062846 RCV000165287 CA023066 rs786202466 COSM51520 |
179 | P>L | lung Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002289947 RCV002343400 RCV000657247 RCV000492647 rs1131690939 |
181 | N>missing | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886037926 CA10586375 RCV000240843 |
181 | N>D | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_065639 rs1568707668 CA891844255 RCV002343505 RCV000698721 |
181 | N>E | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; requires 2 nucleotide substitutions [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA023070 CA402949111 RCV000819570 rs730881973 RCV000492674 |
181 | N>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
rs886037859 RCV000492112 CA10586687 RCV000241351 |
181 | N>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492488 rs730881974 CA402949116 |
182 | L>R | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1185119025 RCV001809950 RCV001024205 CA402949132 |
184 | L>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001051672 rs2080774695 |
184 | L>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA304025912 rs540627331 RCV001858351 RCV000570682 |
185 | T>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
CA402949177 rs587782032 RCV000821253 |
187 | G>C | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402949174 RCV000544810 rs587782032 |
187 | G>R | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000198594 RCV000130480 CA023076 rs587782032 RCV000855607 RCV001358086 RCV000590446 |
187 | G>S | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000204187 rs587781515 CA023082 RCV000765431 RCV001030732 RCV000129498 RCV000220770 RCV000587196 |
189 | T>I | Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome Hereditary breast ovarian cancer syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001181440 rs2080774858 |
190 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130164 rs587781856 |
192 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000234124 CA10583787 rs878853991 |
192 | I>M | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002356782 RCV000483028 CA16620749 rs1064794883 RCV000632811 |
193 | S>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786202134 CA023096 RCV002244864 RCV000164794 CA16602642 RCV000582180 RCV001850304 RCV002243832 |
194 | D>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome Neoplasm of the pancreas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002070151 rs121913315 RCV001327886 |
194 | D>H | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000427095 RCV000168375 VAR_007921 CA023091 RCV000492479 rs121913315 RCV000445048 RCV000708629 COSM25847 |
194 | D>N | lung Neoplasm Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Lung adenocarcinoma small_intestine Peutz-Jeghers syndrome PJS [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_065640 RCV000437343 CA16602778 COSM20957 rs121913316 |
194 | D>V | lung Neoplasm lung cancer; somatic mutation [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000440206 RCV002354151 CA023094 RCV000007876 rs121913315 COSM20944 VAR_033141 |
194 | D>Y | lung Melanoma, cutaneous malignant, susceptibility to, 1 Hereditary cancer-predisposing syndrome Melanoma Variant assessed as Somatic; impact. skin melanoma; sporadic malignant; somatic mutation [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs2080775051 RCV001180703 |
195 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555738276 CA402949275 RCV001024587 |
195 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519858 COSM48786 CA16602779 RCV000444968 |
196 | G>V | lung Variant assessed as Somatic; impact. Non-small cell lung carcinoma [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000436703 rs121913317 CA16602781 COSM25229 |
199 | E>* | lung Neoplasm Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs121913317 CA16602780 RCV001024723 RCV001068577 VAR_065641 RCV000426356 COSM21359 |
199 | E>K | Neoplasm large_intestine Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome colorectal cancer; somatic mutation; impaired kinase activity [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000223237 rs876659254 CA10581005 |
200 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1568707988 CA402949393 RCV000692139 |
200 | A>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402949420 RCV001024847 rs1206092648 |
202 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2080775908 RCV001122238 |
202 | H>Q | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402949419 RCV000561583 rs1206092648 RCV001247438 |
202 | H>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000161002 RCV000775653 RCV000557615 CA023127 rs730881980 |
202 | H>Y | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080775942 RCV001048329 |
203 | P>A | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131373 CA023131 RCV000219794 COSM3692365 rs587782379 RCV000536349 |
203 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001854699 RCV000216539 rs587782379 CA10581006 |
203 | P>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001040469 rs2080775942 |
203 | P>S | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492160 rs1131690946 |
204 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001360652 RCV001178798 rs774100153 CA048335 RCV001183121 RCV002555495 |
204 | F>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
rs2080776017 RCV001232825 |
205 | A>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881981 CA402949447 RCV000546701 |
205 | A>P | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000200996 CA023146 rs730881981 COSM20953 RCV000200492 VAR_065643 RCV000161003 RCV000760084 |
205 | A>T | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome sporadic cancer; somatic mutation; no effect heterotrimeric complex assembly with STRADA and CAB39 [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA023150 rs587782468 RCV000168319 RCV000486177 RCV000131568 |
205 | A>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA304026035 RCV000632823 RCV000775311 rs764244639 |
206 | A>G | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000574283 RCV002298669 rs1555738357 CA402949453 |
206 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000163146 RCV002247563 rs764244639 CA023158 RCV000412198 RCV000478878 |
206 | A>V | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000632815 RCV001766345 rs1555738370 CA402949472 RCV001175692 |
207 | D>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000122090 rs587778694 CA023170 RCV003162557 |
207 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_065644 rs1555738372 COSM21356 RCV000705268 CA402949483 RCV000580980 |
208 | D>N | large_intestine Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome colorectal cancer; somatic mutation; no effect heterotrimeric complex assembly with STRADA and CAB39 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA402949503 RCV000562634 rs1555738373 |
209 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660473 RCV000221345 CA10581007 |
209 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000797034 rs1555738373 CA402949502 |
209 | T>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025060 RCV002551914 rs876660473 CA402949507 |
209 | T>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002367637 RCV000482087 COSM20869 RCV000807012 rs786201213 CA16620750 |
210 | C>* | lung Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000705929 rs1568708105 CA402949523 |
210 | C>F | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs185087320 CA402949529 RCV000566538 RCV000816859 |
211 | R>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000161004 RCV000781892 RCV000765432 CA023190 RCV000235214 RCV000196911 rs730881982 RCV003149983 |
211 | R>Q | Carcinoma of pancreas Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs185087320 CA023186 RCV000163543 RCV000204629 RCV001539393 |
211 | R>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA402949550 rs1555738389 RCV000581964 RCV001326095 |
212 | T>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555738389 CA402949548 RCV001025172 |
212 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599926852 CA402949554 RCV001223430 RCV001025196 |
213 | S>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402949568 rs1555738391 RCV000572906 |
213 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402949571 RCV000492400 rs1131690923 RCV001269112 |
214 | Q>* | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16603147 RCV000427128 VAR_065645 rs1057520038 COSM21357 |
215 | G>D | large_intestine Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome colorectal cancer; somatic mutation [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1057520017 RCV000437743 COSM25844 CA16603119 RCV001247942 VAR_065646 |
216 | S>F | lung cervix Variant assessed as Somatic; impact. Lung adenocarcinoma Peutz-Jeghers syndrome sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs397518442 RCV001042420 RCV000007879 |
217 | P>missing | Carcinoma of pancreas Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130710 CA023199 rs587782146 RCV001317687 |
217 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482499 rs1064794015 RCV002525808 CA089438 |
218 | A>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555738411 CA402949644 RCV000574803 |
219 | F>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402949656 RCV000492208 RCV000557192 COSM13480 rs1131690940 RCV001548233 |
220 | Q>* | lung Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1568708204 CA402949666 RCV000689377 |
220 | Q>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776676 COSM377895 CA402949682 RCV000803358 rs1167609100 |
221 | P>L | lung Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000131756 rs587782546 CA023207 RCV001808399 |
221 | P>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1131690928 RCV000492259 |
222 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001125012 rs2080776621 |
223 | E>G | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616011 RCV000476773 RCV002365582 rs1060499964 |
223 | E>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2080776680 RCV001810015 RCV001284357 |
225 | A>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000462348 CA16616227 rs1060499966 |
225 | A>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046718 RCV003160355 rs748832988 |
226 | N>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025659 RCV001800885 CA402949752 RCV000797980 rs1599926923 |
227 | G>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025700 CA402949767 rs1599926930 |
228 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555738440 RCV000581675 RCV000792566 CA402949809 |
230 | T>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067108 rs2080776848 |
232 | S>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781638 RCV002365737 RCV001061155 |
233 | G>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781638 CA023227 RCV000129751 RCV000802014 |
233 | G>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204132 RCV000115600 rs587780010 CA023230 |
235 | K>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000444772 rs1057520379 CA16608016 CA402949910 RCV001026060 |
237 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492258 CA402949902 rs878853247 |
237 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853247 COSM48787 CA10581557 RCV000225068 |
237 | D>Y | lung Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1131690919 CA402949916 RCV000492388 |
238 | I>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853082 RCV000399421 CA10603426 RCV000796535 |
239 | W>* | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001197734 rs730881975 |
239 | W>* | Carcinoma of pancreas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA023239 COSM333593 RCV000007884 VAR_033142 rs137853082 RCV000986039 CA402949935 |
239 | W>C | lung Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome PJS; late onset suggests reduced penetrance [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP UniProt |
|
RCV001026100 CA402949927 rs745622138 |
239 | W>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587776657 RCV000007867 |
240 | S>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881976 RCV000199530 RCV002372183 CA338699 |
240 | S>* | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881976 RCV001202671 RCV002375130 |
240 | S>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA023243 rs730881976 RCV000763422 RCV001041130 RCV000160995 |
240 | S>W | Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001800856 RCV000699987 RCV002369917 rs587780721 CA048542 RCV001558092 |
241 | A>S | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000123065 RCV000161005 RCV000580621 rs587780721 CA023250 |
241 | A>T | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001220068 rs2080777192 |
241 | A>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780764 RCV002386321 CA402949967 RCV000759359 rs1568708382 |
242 | G>E | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM25849 RCV000690196 CA402949962 rs878853992 |
242 | G>R | lung Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001289560 rs1568708382 |
242 | G>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583788 RCV000226562 COSM564710 rs878853992 |
242 | G>W | lung Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000515491 rs1555738475 |
243 | V>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402949974 rs1599927009 RCV001026224 |
243 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555738476 RCV000550258 CA402949993 |
244 | T>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568708396 CA402949986 RCV000700248 |
244 | T>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853083 CA023261 RCV000007886 |
246 | Y>* | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1568709113 CA402950320 RCV000701363 |
246 | Y>C | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568709113 RCV001327761 |
246 | Y>S | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402950330 RCV000580928 RCV000694481 rs1555738612 |
247 | N>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_006203 | 247 | N>del | PJS [UniProt] | Yes | UniProt |
|
RCV001340410 CA402950345 RCV001026439 rs1599927536 |
248 | I>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000273581 CA10651500 RCV001764296 rs886054218 RCV000775244 |
249 | T>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001026488 CA402950361 RCV000686238 rs1568709142 |
250 | T>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001808582 rs876661238 CA10577596 RCV000219622 RCV001184310 |
250 | T>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131690948 RCV000492086 |
251 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388689 rs730881977 RCV001842270 CA023263 |
251 | G>D | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213222 rs1363669559 |
252 | L>M | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1363669559 RCV000581215 CA402950377 |
252 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137853075 CA023267 RCV000007865 |
253 | Y>* | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599927564 RCV000798408 |
254 | P>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555738621 RCV001175693 CA402950401 RCV000632820 |
254 | P>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812140 rs1599927573 |
255 | F>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026659 CA402950405 rs1599927580 |
255 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000423599 rs1057520606 RCV003138001 CA16608830 |
256 | E>* | Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1599927585 CA402950423 RCV001026710 |
256 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001182876 RCV001295145 rs1057520606 |
256 | E>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632840 CA402950432 rs1555738634 |
257 | G>A | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402950430 RCV001026744 rs1555738634 |
257 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860501 RCV001001057 rs1599927589 |
258 | D>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2080781876 RCV001066703 |
258 | D>E | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599927600 RCV001026762 CA402950438 |
258 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343441 rs2080781890 |
259 | N>D | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568709214 RCV000689966 CA402950491 |
262 | K>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121913320 RCV000492099 RCV000632833 RCV000414059 |
264 | F>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599927622 RCV001026963 |
264 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001125013 rs876658978 CA10581009 RCV000223073 |
264 | F>Y | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080782095 RCV001258215 |
265 | E>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555738656 RCV000632838 |
266 | N>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027028 CA402950551 RCV000689117 rs1568709259 |
267 | I>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080782189 RCV001338402 |
268 | G>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599927645 RCV001027134 |
269 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599927641 RCV001027121 CA402950569 |
269 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057523146 RCV001216597 |
269 | K>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555738667 RCV000552113 |
271 | S>* | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001368925 CA402950596 RCV002067710 RCV001027203 rs1599927654 |
271 | S>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492232 CA402950616 rs9282859 |
272 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001356427 RCV000587949 RCV000196939 RCV000130859 rs587782199 CA023284 |
273 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Generalized juvenile polyposis/juvenile polyposis coli Peutz-Jeghers syndrome [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003166854 CA049024 rs761164605 RCV001320760 RCV001773639 |
273 | A>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA402950629 RCV001027280 rs1599927666 |
274 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555738685 RCV000574810 RCV000821248 CA402950647 |
275 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221902 CA10577597 rs749927908 RCV000632818 |
276 | G>D | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA049046 RCV000487182 RCV000572801 rs749927908 RCV000459041 RCV001260426 |
276 | G>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402950666 rs1555738693 RCV000632844 |
277 | D>E | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573902 rs1555738692 RCV001853750 CA402950659 |
277 | D>H | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555738692 RCV001062281 RCV001190034 |
277 | D>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431954 rs1555738692 VAR_065654 RCV001340811 |
277 | D>Y | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome sporadic cancer; somatic mutation; no effect on kinase activity nor in heterotrimeric complex assembly with STRADA and CAB39 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs587776659 RCV000007870 |
278 | C>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2080782575 RCV001060046 |
278 | C>Y | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000411298 RCV001017603 rs1057517603 CA16042183 RCV000481258 |
279 | G>A | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782584 CA023294 RCV000131920 |
279 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001017642 rs865941858 CA402950687 |
279 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1599927689 RCV001027387 |
280 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000777281 rs1555738708 RCV000555728 CA402950697 |
280 | P>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402950704 RCV001017687 RCV001199900 rs1356762205 RCV001317877 |
280 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001061947 CA402950696 RCV001017674 rs1555738708 |
280 | P>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485596 RCV000172825 rs121913321 RCV002444692 |
281 | P>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000232126 RCV003153424 RCV001030733 rs121913322 RCV001719902 RCV000130951 RCV000235215 COSM21355 RCV000419015 VAR_065655 CA023305 |
281 | P>L | lung Neoplasm ovary large_intestine Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) stomach Peutz-Jeghers syndrome Ovarian cancer Hereditary breast ovarian cancer syndrome ovarian carcinoma; somatic mutation [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs121913322 CA023302 RCV000115601 RCV001293889 RCV000476631 RCV000213021 |
281 | P>Q | Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs121913322 RCV000228218 CA023303 RCV000164375 |
281 | P>R | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs377208033 CA402950706 RCV000529632 |
281 | P>S | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000219471 RCV000468995 RCV001762323 CA023300 RCV000132358 rs377208033 |
281 | P>T | Melanoma, cutaneous malignant, susceptibility to, 1 Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121913321 RCV000492505 RCV000474843 RCV001566266 |
282 | L>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786205864 RCV000172824 |
282 | L>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690949 RCV000492368 RCV000990129 |
282 | L>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000582592 rs1555738722 RCV001047643 CA402950715 |
282 | L>F | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007866 rs587776656 |
282 | L>S | Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001184174 rs2080782934 |
283 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000586390 rs1555738723 |
284 | D>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697905 RCV000508448 CA402950753 RCV002413391 rs1555738724 |
285 | L>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002534043 RCV000772942 CA402950752 rs1555738724 |
285 | L>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001064819 RCV002445336 CA402950772 rs1349316725 |
287 | K>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16608838 rs1057524439 RCV002374723 RCV001362693 RCV000434265 |
290 | L>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492598 rs1131690947 |
291 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587780011 RCV001181521 CA16616231 RCV000457048 |
292 | Y>C | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000115602 RCV000214773 rs587780011 CA023316 RCV000559287 |
292 | Y>F | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs398123405 RCV000632837 RCV000131978 CA023320 |
293 | E>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001049299 rs866454760 RCV002374898 |
294 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555738863 RCV000537729 |
295 | A>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs866664820 CA402951221 RCV000697072 |
295 | A>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222875 rs876660582 |
295 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402951234 rs1555738868 RCV001018455 RCV000685112 RCV000562619 CA402951233 |
296 | K>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007885 rs587776661 |
297 | R>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568710381 RCV000774875 CA402951238 RCV000809778 VAR_007922 |
297 | R>K | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome PJS [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000492152 rs1131690935 |
297 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA023329 COSM96528 rs730881984 RCV001062236 |
297 | R>S | lung Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001185567 RCV001495350 CA402951255 RCV003114259 RCV000213024 RCV000195949 RCV001293890 COSM29467 RCV000115603 CA023331 rs199681533 |
298 | F>L | Carcinoma of pancreas cervix Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000167017 rs786203624 |
300 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573757 CA402951277 rs546089394 |
300 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555738874 RCV000632807 |
301 | R>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA049476 RCV000197149 rs370222210 RCV000583301 RCV001552011 |
301 | R>Q | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000115604 RCV000467481 RCV000775659 rs587780012 CA023340 |
301 | R>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587776660 RCV000007872 VAR_033143 |
303 | I>N | Peutz-Jeghers syndrome PJS [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001865435 rs1064793427 RCV002374885 RCV000487243 |
304 | R>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376280361 CA402951309 RCV000492320 RCV003105924 |
304 | R>P | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376280361 RCV000569076 CA049492 RCV000479636 RCV000536973 |
304 | R>Q | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA023348 rs786201090 RCV000435642 RCV000162596 RCV000256082 RCV001183047 COSM29468 |
304 | R>W | cervix Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Variant assessed as Somatic; impact. Inborn genetic diseases Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1131690945 RCV000492604 CA402951315 RCV000657704 RCV001386709 |
305 | Q>* | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131690945 RCV001189844 |
305 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1363241574 RCV001318307 |
306 | H>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1248289980 RCV000632810 RCV001019004 CA402951339 |
307 | S>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001019033 rs1599929258 |
308 | W>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622488 RCV000584565 RCV001270017 RCV001809686 CA402951422 |
308 | W>* | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057520042 VAR_071059 RCV000435765 CA16603151 |
308 | W>C | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome PJS; abolishes kinase activity, leading to loss of autophosphorylation [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs864622488 CA349711 RCV000205568 COSM26041 |
308 | W>L | lung Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2080795639 RCV001046337 |
308 | W>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551710 RCV000575394 CA402951443 rs1555739158 RCV001597160 |
310 | R>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA049732 rs750366043 RCV001869078 RCV000771627 |
310 | R>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001048948 rs2080795745 |
311 | K>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000474608 RCV000007880 rs397518443 |
312 | K>missing | Carcinoma of pancreas Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2080795769 RCV001237781 |
312 | K>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000458631 CA16616023 rs1060499952 |
312 | K>Q | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002264960 rs1555739169 RCV002528948 RCV000563498 CA402951484 |
313 | H>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000226358 rs730881987 RCV000161010 CA023369 RCV001181036 |
313 | H>Y | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1064795752 CA16620755 RCV001219458 RCV001019328 RCV000483299 |
314 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs758416485 RCV001019285 CA049758 RCV000795455 |
314 | P>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA402951493 RCV001869121 RCV000777362 rs786202431 |
315 | P>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001284363 rs766958608 RCV000567303 RCV001527035 RCV003150213 RCV000457133 CA16616024 |
315 | P>L | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_033144 RCV000165240 rs786202431 CA023371 RCV001367387 |
315 | P>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome PJS; pathogenicity uncertain; no effect heterotrimeric complex assembly with STRADA and CAB39 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001019381 CA049785 rs751709130 RCV002282206 RCV001552945 RCV000539597 |
316 | A>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs864622303 RCV000205873 CA349972 |
316 | A>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000161011 RCV000701488 CA023375 rs730881988 RCV000574139 |
317 | E>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000130345 RCV001217530 rs587781966 CA023377 |
318 | A>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616236 rs587781966 RCV000469875 |
318 | A>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568712000 RCV000772860 CA402951526 |
318 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239930 rs2080796043 |
319 | P>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402951535 rs1181445340 RCV001860946 RCV001019501 |
319 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs781528711 CA049817 RCV000485417 RCV002383924 |
320 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA402951548 rs1377304428 RCV002379862 RCV001226041 |
321 | P>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1377304428 RCV001296274 |
321 | P>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000823781 rs1599929335 |
322 | I>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071182 rs1599929342 |
323 | P>A | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002473143 rs1599929342 CA402951570 RCV000802395 |
323 | P>S | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001809660 RCV000561932 RCV001770519 rs367807476 CA402951579 |
324 | P>R | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs549474196 CA023383 RCV000467660 RCV000775661 RCV000115607 |
324 | P>S | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001044009 RCV000213140 rs876660268 |
324 | P>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599929339 RCV000815167 |
324 | P>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs549474196 RCV000115606 RCV000213028 CA023381 RCV000168083 |
324 | P>A | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA023385 RCV001556031 RCV000123070 VAR_065658 COSM21380 RCV000163389 rs367807476 |
324 | P>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) stomach Peutz-Jeghers syndrome gastric carcinoma; no effect heterotrimeric complex assembly with STRADA and CAB39 [NCI-TCGA, ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587781643 RCV000129772 CA023389 |
325 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587781474 RCV000816867 CA023393 RCV000129420 |
326 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000553557 RCV000163989 RCV000766875 CA023391 RCV000217261 rs771632414 RCV001358183 |
326 | P>T | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA348572 rs864622638 RCV000204325 |
327 | D>G | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001809800 RCV000777149 rs1568712119 CA402951599 |
327 | D>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1599929369 RCV000772564 |
328 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001805892 CA402951614 RCV000816984 rs1405959130 |
328 | T>I | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001180638 CA402951615 RCV001875994 rs1405959130 |
328 | T>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060499960 RCV000464957 |
330 | D>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201811 CA402951635 CA023397 RCV000164292 RCV001071149 RCV001019881 |
330 | D>E | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070079 RCV002379621 rs876658594 |
331 | R>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402951640 rs371264852 RCV002386402 RCV000796850 |
331 | R>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371264852 RCV000130707 RCV002465530 RCV000199024 RCV000486850 CA023399 |
331 | R>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10581014 RCV000460876 RCV001293583 rs876658594 RCV000217573 |
331 | R>W | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM18652 rs121913325 RCV000425766 CA16602782 TCGA novel |
332 | W>* | lung Neoplasm Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP NCI-TCGA |
|
rs746564972 RCV001202795 RCV001181037 RCV002465838 CA049884 RCV002254954 |
333 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs587782267 RCV000131004 RCV000206257 CA023401 |
333 | R>H | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001009635 CA402951669 rs1342275430 |
334 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000583571 rs1555739243 CA402951685 |
335 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566843 CA044671 rs768144275 |
335 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1272426209 CA402951704 RCV001860850 RCV001016991 |
337 | V>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2080796782 RCV001241493 |
337 | V>M | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568712203 RCV002534089 RCV000773690 CA402951712 |
338 | V>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022150 RCV000168376 RCV001354464 RCV000765433 RCV000131186 RCV002243796 RCV000222337 rs587782302 |
338 | V>M | Carcinoma of pancreas Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Generalized juvenile polyposis/juvenile polyposis coli Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000165885 CA022158 RCV000781886 RCV000534169 rs769644352 |
339 | P>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA022164 RCV000226438 RCV000132059 RCV000483861 rs567896256 |
339 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000573350 CA16616027 RCV000472320 rs567896256 |
339 | P>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001128096 rs2080796950 |
340 | Y>H | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001258216 rs1195673013 |
342 | E>D | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213831 RCV001318426 rs876658160 CA10581015 |
342 | E>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402951762 rs1448942333 RCV001017063 |
343 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000213030 RCV000197027 CA022175 RCV000129286 rs368547224 RCV000656982 |
343 | D>N | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000570906 CA348502 RCV002277563 rs864622118 RCV000204257 |
344 | L>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001800673 RCV000579444 RCV000472798 rs1060499969 |
346 | G>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375431906 RCV000482308 RCV000206247 RCV000130584 CA022187 |
346 | G>S | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001356397 rs587782058 RCV000775312 RCV002222607 RCV002286784 CA9039458 RCV000700925 |
347 | A>V | Hereditary cancer-predisposing syndrome Familial ovarian cancer Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080797182 RCV001214999 RCV002393500 |
347 | A>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022211 RCV000130534 RCV000217158 RCV000527203 rs587782058 |
347 | A>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000590522 RCV000722120 RCV000200813 CA022200 RCV000129447 rs369744528 |
347 | A>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001061490 rs2080797253 |
348 | D>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000458847 RCV002402227 RCV003150212 rs757815836 CA16616232 |
349 | E>A | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA022228 RCV000476845 RCV000115592 RCV000573750 RCV000761075 rs553752236 RCV000781887 |
349 | E>K | Hereditary cancer-predisposing syndrome B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs876658522 RCV001857763 CA10581016 RCV000222727 COSM1390435 |
350 | D>G | large_intestine Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA16616237 COSM1390434 rs1060499955 RCV000459508 |
350 | D>N | large_intestine Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA402951831 rs1555739303 RCV000777129 |
351 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000814419 CA044937 rs746460823 RCV000571262 |
351 | E>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001017146 RCV001211505 rs1264780659 |
352 | D>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402951843 RCV001009759 rs1599929512 |
353 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007887 VAR_065659 RCV001355263 rs59912467 RCV001797996 RCV000656543 COSM21360 CA022247 RCV000122091 RCV002504766 RCV000115593 |
354 | F>L | lung Carcinoma of pancreas Breast and/or ovarian cancer large_intestine Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) breast Peutz-Jeghers syndrome colorectal cancer; somatic mutation [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001397182 RCV000419471 COSM21360 rs1057520018 CA16603121 RCV002411286 |
354 | F>L | lung Squamous cell lung carcinoma large_intestine Hereditary cancer-predisposing syndrome breast Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs2080797498 RCV001351269 |
354 | F>S | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs577581156 RCV001061082 |
355 | D>E | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402951853 RCV000583748 RCV001350513 rs769403473 |
355 | D>H | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000815148 CA044986 RCV000505996 rs769403473 RCV002413389 RCV002292557 |
355 | D>N | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA402951860 RCV001009828 RCV001049761 rs772963844 |
356 | I>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001043772 CA022258 rs187744790 RCV000132217 |
356 | I>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001009829 rs772963844 CA044997 RCV000632825 |
356 | I>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA402951865 rs759473833 RCV002406561 RCV000691840 |
357 | E>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000811854 rs1599929523 |
357 | E>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002268095 RCV001082664 RCV000571538 RCV000833846 RCV001356730 RCV001255638 CA045047 rs556651007 |
357 | E>D | Lip and oral cavity carcinoma Hereditary cancer-predisposing syndrome Familial ovarian cancer Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000780766 rs759473833 CA022264 RCV000465950 RCV000563889 RCV000657031 |
357 | E>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752781994 RCV001209942 CA045065 |
358 | D>G | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587778696 RCV000579806 RCV000122093 RCV000470035 CA022271 |
358 | D>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000774868 rs1321578734 RCV001362546 CA402951895 |
359 | D>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000471819 CA16616238 rs1060499967 |
359 | D>N | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699013 rs1568712477 CA402951903 |
360 | I>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175695 rs1555739334 CA402951899 RCV000632830 |
360 | I>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080797894 RCV002430078 RCV001294825 |
361 | I>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050898 rs2080797878 |
361 | I>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022275 RCV000165171 rs786202388 |
361 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000685209 RCV000564324 RCV000479121 rs764458789 CA045091 |
363 | T>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000656983 CA022281 rs587778695 RCV000206210 RCV000219976 RCV000122092 |
363 | T>I | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA045107 rs587778695 RCV001009872 |
363 | T>N | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587778695 RCV001221717 |
363 | T>S | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402951941 rs1599929567 RCV001017249 RCV001318342 |
364 | Q>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402951946 RCV000823045 rs1599929572 RCV001182547 |
365 | D>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001185910 rs1599929572 |
365 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183864 rs2080798043 |
366 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001875867 RCV001177912 rs767100677 CA304028955 |
366 | F>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA402951973 RCV001017286 rs1599929579 RCV001860859 |
367 | T>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402951974 rs587782835 RCV001235867 |
367 | T>K | Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM21358 RCV000222146 VAR_065660 CA022292 rs587782835 RCV000132421 RCV002267886 RCV000197228 |
367 | T>M | large_intestine Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome colorectal cancer; somatic mutation [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1311925225 CA402951979 RCV002431872 RCV000632826 |
368 | V>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000570582 RCV001552383 rs1311925225 RCV000824509 CA402951977 |
368 | V>M | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1230130092 RCV000570729 CA402951993 RCV001809676 |
369 | P>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA045209 rs758887235 RCV000568350 RCV001219709 |
369 | P>S | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1568716651 CA402953096 RCV000690294 |
370 | G>E | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747655835 RCV002458412 RCV000165481 RCV000199120 CA022305 RCV000793314 CA402951996 |
370 | G>R | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000474669 CA16616034 rs1060499963 |
371 | Q>L | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2080821529 RCV001211771 |
372 | V>I | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577599 RCV001017384 RCV000815664 RCV000221173 rs876661153 |
373 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001853943 COSM3724557 rs1287849806 RCV000581593 CA402953142 |
373 | P>S | lung Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001176481 rs2080821588 |
374 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402953158 RCV000531354 rs587782287 RCV000492193 |
374 | E>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000131158 RCV002273959 rs587782287 CA022324 |
374 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000464501 rs1060499951 CA16616035 |
375 | E>G | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000685196 RCV000565927 rs1064794167 RCV000482588 |
376 | E>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022329 RCV000115594 RCV000855606 RCV000586344 RCV000205503 rs373888280 |
376 | E>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000709575 rs747018506 CA402953228 |
376 | E>D | Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003160291 rs2080821683 RCV001042613 |
376 | E>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344447 rs373888280 |
376 | E>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227141 RCV002288910 CA045509 RCV000564880 rs768870802 |
377 | A>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA304033486 RCV001302122 rs768870802 RCV000775662 |
377 | A>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199973552 RCV000483853 CA022340 RCV000195574 RCV000130754 |
377 | A>V | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000562623 rs1555740077 CA402953250 |
378 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA045534 RCV001224935 rs762124698 RCV000581087 RCV001328411 |
379 | H>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001009979 CA402953262 rs1599932087 |
379 | H>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402953282 rs1555740084 RCV000562214 RCV001865730 |
380 | N>H | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001327417 rs1057521658 RCV002456462 |
380 | N>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402953284 RCV000556098 RCV000774976 rs1247102370 |
380 | N>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs765419233 RCV000587411 CA022351 RCV000163414 RCV000811562 |
381 | G>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765419233 RCV000459961 CA16616239 |
381 | G>E | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000529286 RCV002456067 CA402953306 rs1555740086 |
381 | G>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555740090 RCV000561835 CA402953339 |
382 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA304033496 rs985937027 RCV000632802 RCV001355465 RCV001017452 |
382 | Q>R | Hereditary cancer-predisposing syndrome Familial ovarian cancer Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002287369 RCV000131320 RCV000168106 rs535449626 CA022357 RCV001255473 |
383 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA402953367 RCV000632814 RCV001017466 rs535449626 |
383 | R>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001804887 CA022363 RCV000235216 rs730881990 RCV001356849 RCV000161013 RCV001197815 RCV000204343 |
383 | R>H | Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome Generalized juvenile polyposis/juvenile polyposis coli [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402953378 rs752015385 RCV001009992 |
384 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs371102112 RCV000800204 CA402953387 |
384 | R>L | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002267881 CA022368 RCV000986034 RCV000465830 rs371102112 RCV000131727 |
384 | R>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000218896 RCV000572898 RCV000231028 rs752015385 CA045625 RCV001356885 |
384 | R>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763586612 RCV000544191 CA045647 RCV002350195 |
385 | G>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876658871 RCV001053656 |
386 | L>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220223 rs876658871 CA10581018 RCV000697411 |
386 | L>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000131621 CA022378 rs587782493 RCV000532633 |
387 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878853983 RCV000233827 CA10583792 |
388 | K>* | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853983 CA402953447 RCV000574766 |
388 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321488 RCV001182798 rs878853983 |
388 | K>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000589090 rs756877141 CA045677 RCV000543251 RCV000569327 |
388 | K>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402953471 RCV002529115 rs1555740118 RCV000580195 |
389 | A>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs374078532 RCV000482762 CA16620758 RCV001010118 RCV001809431 |
390 | V>L | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000536228 COSM3724561 RCV000131310 CA022393 rs374078532 RCV003153425 RCV001290662 RCV000482811 |
390 | V>M | lung Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome Ovarian cancer [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001218237 rs2080822382 |
391 | C>Y | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661013 RCV001247509 CA402953527 RCV000569598 |
392 | M>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000771390 rs876661013 CA10577600 RCV000222367 RCV000697176 |
392 | M>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000776534 RCV001778787 rs565993396 CA045732 RCV000199162 |
392 | M>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000558280 RCV001010156 CA402953554 RCV001010155 RCV000694814 CA402953551 rs863224360 |
393 | N>K | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000551124 rs1060499965 RCV000771660 CA402953549 |
393 | N>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463119 CA16616240 rs1060499965 |
393 | N>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768780695 RCV001010165 CA402953570 |
394 | G>C | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768780695 RCV000536736 CA045760 RCV000565643 |
394 | G>R | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001808435 RCV000761079 RCV001264531 rs768780695 CA022410 RCV000168138 RCV002485009 RCV000163162 |
394 | G>S | Embryonal rhabdomyosarcoma Carcinoma of pancreas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001800436 RCV002478395 RCV000130688 RCV000230363 rs587782138 CA022417 |
395 | T>A | Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001179943 rs587782138 |
395 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599932241 RCV001010229 CA402953607 |
396 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000795016 RCV000219917 CA045807 rs763314442 |
396 | E>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587780008 RCV000195603 CA022429 RCV000576049 RCV001798331 RCV000115595 |
397 | A>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003149889 CA022434 RCV000213033 RCV000656984 RCV000205254 RCV000129317 rs558040549 COSM1189751 |
397 | A>V | lung Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001315112 rs2080822675 |
398 | A>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010267 RCV001317359 CA915951603 rs1599932256 |
398 | A>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657114 RCV000163934 RCV000234273 RCV001262270 CA022442 RCV000486365 rs768058962 |
398 | A>V | Breast carcinoma Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001010246 CA402953660 RCV001862762 rs1436178098 |
399 | Q>H | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000765434 rs1060499968 CA16616036 RCV000458053 RCV000579669 |
399 | Q>K | Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs747545317 RCV000775665 RCV000801087 CA304033616 |
400 | L>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001326665 RCV002350607 rs2080822902 |
401 | S>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782291 RCV000131172 CA022462 RCV002465531 RCV000703409 |
401 | S>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010299 CA402953709 rs750055790 |
402 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001420889 rs750055790 RCV002348256 CA045929 RCV000464100 |
402 | T>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs587781633 RCV000129742 RCV000414913 RCV000478346 RCV001197036 RCV000228045 CA022467 |
403 | K>R | Breast carcinoma Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200078204 CA022472 RCV001269488 RCV000589835 RCV000213035 RCV000115596 RCV001762227 RCV000200450 RCV003149797 |
404 | S>F | Melanoma, cutaneous malignant, susceptibility to, 1 Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555740191 CA402953749 RCV000632812 |
404 | S>P | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200078204 RCV000525214 CA402953753 RCV001010339 |
404 | S>Y | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA402953765 RCV000690183 rs376718324 RCV000570180 |
405 | R>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs376718324 CA022477 RCV000164388 RCV001054751 |
405 | R>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002465820 rs748202003 RCV001050408 RCV001010375 CA402953796 |
406 | A>G | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402953788 RCV000540360 RCV000776236 rs1330230723 |
406 | A>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001860634 RCV001010372 CA402953782 rs1330230723 |
406 | A>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000565860 CA046002 RCV000204370 RCV001192852 RCV003153487 RCV000222032 rs748202003 |
406 | A>V | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome Ovarian cancer [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA402953817 rs1568717266 RCV000774151 RCV001873138 |
407 | E>D | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049296 RCV000573130 CA046029 rs749463771 |
408 | G>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000509169 rs368466538 RCV000409343 RCV000132082 CA022487 |
409 | R>G | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001309659 rs587782364 |
409 | R>L | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782364 RCV002464366 RCV001064346 RCV001177476 |
409 | R>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1390448 RCV000487216 rs587782364 RCV000131326 RCV000657038 RCV000197480 CA022499 |
409 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000656985 RCV000216380 RCV000414992 COSM25854 RCV000131250 rs368466538 RCV000123056 CA022492 |
409 | R>W | lung Breast carcinoma Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814590 CA402953866 RCV002363118 rs372329880 |
410 | A>D | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2080823389 RCV001360003 RCV002259382 RCV001181689 TCGA novel |
410 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Peutz-Jeghers syndrome [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA022505 RCV000213038 RCV002281935 RCV000200053 rs372329880 RCV000115597 |
410 | A>V | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000986035 RCV000476238 rs772527201 CA022510 RCV000166856 |
411 | P>A | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000807401 CA402953908 rs1158714606 RCV001056363 |
412 | N>K | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000539118 CA022515 RCV001731410 rs786201309 RCV000163337 |
412 | N>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022521 RCV000705839 RCV000130536 rs587782059 |
413 | P>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180873 rs587782059 |
413 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000531605 rs1386678110 CA402953920 RCV002367787 |
413 | P>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001217512 RCV001760202 rs2080823635 |
414 | A>S | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484937 rs864622448 RCV000570343 CA16616246 RCV000469436 RCV003155182 |
415 | R>C | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs864622448 RCV000765435 RCV000206057 RCV000561859 RCV000759354 CA350119 |
415 | R>G | Carcinoma of pancreas Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA046095 RCV000551966 RCV002305502 RCV000568457 rs775978755 |
415 | R>H | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002393290 RCV001059617 rs775978755 |
415 | R>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225002 CA402953972 RCV000566089 rs775978755 |
415 | R>P | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000781894 RCV001059114 CA402954004 RCV002388411 rs1459406168 |
416 | K>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001284240 CA402953997 rs1446554442 RCV000804493 RCV001010536 |
416 | K>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1166243253 RCV000632824 RCV001182961 CA402954018 |
417 | A>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA022536 RCV000132509 RCV000229071 RCV001798461 rs587782876 |
417 | A>S | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA022532 RCV001808434 rs587782876 RCV000163101 |
417 | A>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001223437 rs1166243253 |
417 | A>V | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853986 CA10583794 RCV001753688 RCV000231843 RCV001184074 |
418 | C>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000564627 CA022540 rs730881991 RCV000161014 RCV000699445 |
418 | C>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002281949 CA022547 RCV000131151 rs587780715 RCV000585976 RCV000123057 |
418 | C>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA402954029 rs878853986 RCV000814312 |
418 | C>Y | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697074 rs1568717471 |
419 | S>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764639416 CA046132 RCV000480918 RCV000530692 RCV001182995 |
419 | S>F | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA304033718 RCV000810370 rs969257745 |
419 | S>T | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001313487 RCV002509659 rs369033659 |
420 | A>D | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762482152 RCV000760075 CA046161 RCV000223101 RCV000663120 |
420 | A>S | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762482152 CA046152 RCV000226740 RCV000569699 RCV000455443 RCV000766974 |
420 | A>T | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369033659 RCV000760076 RCV000476379 RCV000163163 CA022562 |
420 | A>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001010636 CA402954099 rs1253803683 |
421 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002476112 RCV000560077 rs1555740261 CA658656792 RCV000562727 |
421 | S>N | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001186104 rs1472814508 |
421 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782439 RCV000486911 RCV000131503 RCV000229523 |
422 | S>missing | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205435 RCV001010643 CA349595 rs864622091 |
422 | S>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402954106 rs1555740263 RCV000632828 RCV000579770 |
422 | S>R | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315330 rs751352435 |
422 | S>R | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860103 RCV000582770 rs1555740268 CA402954128 |
423 | K>E | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA402954180 RCV000564533 RCV000560595 rs754853898 |
425 | R>C | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000195803 RCV000161015 COSM327301 RCV000213041 CA022577 rs730881992 |
425 | R>H | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Peutz-Jeghers syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA16616045 rs730881992 RCV000468308 RCV002374735 |
425 | R>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA046228 rs754853898 RCV000572126 RCV001346901 |
425 | R>S | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587782687 RCV000485540 RCV000410170 RCV000132118 CA022588 |
426 | R>G | Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001175694 rs752699287 RCV000632829 CA402954185 |
426 | R>L | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752699287 CA10583795 RCV000580436 RCV000232291 |
426 | R>P | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001010707 CA046248 rs752699287 RCV001221602 |
426 | R>Q | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA022593 rs587782687 COSM27314 RCV000168123 RCV001194241 RCV002298489 RCV000163116 |
426 | R>W | lung Hereditary cancer-predisposing syndrome Peutz-jeghers syndrome (pjs) Peutz-Jeghers syndrome [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781537 CA402954213 RCV001202790 |
428 | S>* | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781537 RCV000218637 RCV000567419 RCV003150130 RCV000476552 CA046284 |
428 | S>L | Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001192853 CA16620761 rs1064793938 RCV000567982 RCV000702071 RCV000479267 |
428 | S>T | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657082 rs587781537 RCV000216446 CA022599 RCV000549140 RCV000129543 |
428 | S>W | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000574953 rs757369900 CA046303 RCV000760078 RCV000197676 |
429 | A>G | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001189892 CA046314 rs757369900 RCV000508410 RCV001809460 |
429 | A>V | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555740288 RCV001233405 |
431 | K>missing | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599932556 RCV001010791 CA402954266 |
431 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000418374 rs1057523149 CA16608027 RCV000509245 |
432 | Q>* | Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001808437 CA022629 RCV000164281 rs587781179 |
432 | Q>H | Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1599932568 RCV001182807 |
434 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402942973 rs1599914720 |
4 | V>G | No |
ClinGen Ensembl |
|
|
CA402943015 rs1178249537 |
5 | D>A | No |
ClinGen gnomAD |
|
|
CA402943001 rs1399081375 |
5 | D>N | No |
ClinGen gnomAD |
|
|
CA402943037 rs1360284524 |
6 | P>S | No |
ClinGen gnomAD |
|
|
CA402943073 rs760588289 |
8 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764154797 CA046750 |
9 | L>P | No |
ClinGen ExAC gnomAD |
|
| VAR_065627 | 14 | E>K | cervical cancer; somatic mutation [UniProt] | No | UniProt |
|
rs780581573 CA304016711 |
17 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319831476 CA402943743 |
33 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | V>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 37 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402943946 rs1288190366 |
40 | R>H | No |
ClinGen TOPMed gnomAD |
|
| rs1060499961 | 44 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304016769 rs866690702 |
47 | G>D | No |
ClinGen Ensembl |
|
|
rs766776431 CA046350 |
48 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | L>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 52 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 52 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 53 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1131690917 | 53 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402944104 rs1478412153 |
53 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | G>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753252227 CA046446 |
56 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs121913319 | 57 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs121913319 | 57 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs876661128 CA10577592 RCV000213610 |
59 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 62 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402944245 rs1568690276 |
63 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 65 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771678242 CA046502 |
66 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA402944282 rs771678242 |
66 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 68 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA046524 rs779734289 |
68 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1599915169 CA402944328 |
70 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 74 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 75 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402944420 rs1167680274 |
77 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 77 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961970080 CA402944478 |
81 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402944507 rs137853076 |
84 | K>E | Peutz-jeghers syndrome (pjs) [Ensembl] | No |
ClinGen gnomAD |
| TCGA novel | 84 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 87 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_041139 COSM21075 CA402944538 rs1568690463 |
87 | R>K | skin a metastatic melanoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
CA402944589 rs1359022760 |
91 | G>E | No |
ClinGen gnomAD |
|
|
rs1284530663 CA402944584 |
91 | G>R | No |
ClinGen gnomAD |
|
|
rs730881989 RCV000161012 CA022766 |
92 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1333336656 CA402944631 |
95 | V>L | No |
ClinGen TOPMed |
|
|
CA402947676 rs1406974389 |
104 | R>T | No |
ClinGen TOPMed |
|
|
CA304024211 rs867918757 |
107 | H>N | No |
ClinGen Ensembl |
|
|
CA402947709 rs878853987 |
107 | H>Q | No |
ClinGen gnomAD |
|
|
rs532995063 CA304024221 |
113 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1373476434 CA402947773 |
114 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 117 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402947862 rs1205003744 RCV000723007 |
120 | E>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs775595174 CA402947856 |
120 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316669124 CA402947868 |
121 | E>K | No |
ClinGen TOPMed |
|
|
rs1307350024 CA402947955 |
125 | M>T | No |
ClinGen gnomAD |
|
|
rs918009872 CA304024808 |
128 | V>L | No |
ClinGen TOPMed |
|
|
CA402948129 rs1568705335 RCV000722875 |
130 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000578968 rs760399253 CA402948150 |
131 | Y>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA304024835 rs137853081 |
135 | G>C | No |
ClinGen Ensembl |
|
|
CA304024852 rs867060159 |
138 | E>G | No |
ClinGen Ensembl |
|
|
CA047532 rs750335052 |
138 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1284294073 CA402948239 |
139 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1315791661 CA402948263 |
141 | D>E | No |
ClinGen gnomAD |
|
|
CA047558 rs779987540 |
143 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304024870 rs765194348 |
144 | P>S | No |
ClinGen Ensembl |
|
|
CA16620746 RCV000486069 rs369764220 |
145 | E>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA402948297 rs1241537285 |
145 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_065632 | 157 | F>S | sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
|
rs897087953 CA304025868 |
159 | Q>H | No |
ClinGen Ensembl |
|
| VAR_065633 | 160 | L>P | cervical cancer; somatic mutation [UniProt] | No | UniProt |
|
CA402948860 rs1599926460 |
164 | L>R | No |
ClinGen Ensembl |
|
|
CA402948866 COSM48902 rs1359582062 |
165 | E>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA402948882 rs1387789089 |
166 | Y>C | No |
ClinGen TOPMed |
|
|
CA402948879 rs1387789089 |
166 | Y>S | No |
ClinGen TOPMed |
|
|
rs1358890732 CA402948939 |
171 | G>D | No |
ClinGen gnomAD |
|
| VAR_065636 | 174 | H>R | sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
|
COSM564714 RCV000581400 rs1064794805 CA402949012 |
176 | D>A | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000482078 rs1064794805 CA16620748 |
176 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 176 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_065637 | 176 | D>Y | sporadic cancer; somatic mutation; Loss of kinase activity [UniProt] | No | UniProt |
| TCGA novel | 181 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1131690939 | 181 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs730881974 CA023072 |
182 | L>P | No |
ClinGen Ensembl |
|
|
rs1185119025 CA402949133 |
184 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_065642 | 199 | E>Q | sporadic cancer; somatic mutation; does not affect kinase activity [UniProt] | No | UniProt |
|
CA402949405 rs876659254 |
200 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000679322 CA402949456 rs1555738357 |
206 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 207 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300171938 CA402949542 |
212 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_065647 | 223 | E>V | sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
|
rs1321933519 CA402949716 |
224 | I>L | No |
ClinGen gnomAD |
|
|
CA402949770 rs1339614614 |
228 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_065648 | 230 | T>P | sporadic cancer; somatic mutation; no effect heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
|
COSM21383 rs929783669 CA304026059 VAR_065649 |
231 | F>L | cervix cervical cancer; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
| VAR_065650 | 232 | S>P | sporadic cancer; somatic mutation; no effect heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
|
rs1555738459 CA402949906 RCV000583384 COSM1390429 |
237 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| TCGA novel | 237 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA048498 rs745622138 |
239 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs730881975 CA023236 |
239 | W>S | No |
ClinGen Ensembl |
|
| VAR_065651 | 245 | L>R | sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
| TCGA novel | 247 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599927539 CA402950349 |
249 | T>P | No |
ClinGen Ensembl |
|
| VAR_065652 | 250 | T>P | sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
| TCGA novel | 259 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568709203 RCV000759360 |
263 | L>missing | No |
ClinVar dbSNP |
|
|
CA402950505 rs1226608647 |
263 | L>S | No |
ClinGen TOPMed |
|
|
rs730881963 CA402950532 |
265 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_065653 | 272 | Y>H | sporadic cancer; somatic mutation; no effect on kinase activity nor in heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
| TCGA novel | 274 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461580063 CA402950649 |
276 | G>S | No |
ClinGen gnomAD |
|
|
rs865941858 CA304026842 |
279 | G>A | No |
ClinGen gnomAD |
|
|
rs865941858 CA402950689 |
279 | G>D | No |
ClinGen gnomAD |
|
|
rs786205863 CA023296 |
280 | P>V | No |
ClinGen Ensembl |
|
| rs121913321 | 281 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs121913321 | 282 | L>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402950724 rs1357007055 |
283 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_065656 | 285 | L>Q | sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
|
rs1057518830 RCV000415408 |
286 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 289 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064795706 RCV000481684 |
291 | E>missing | No |
ClinVar dbSNP |
|
|
rs398123405 CA023322 RCV000078913 |
293 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA304027473 rs866454760 |
294 | P>Q | No |
ClinGen Ensembl |
|
|
CA304027481 rs866664820 |
295 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 295 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs730881978 COSM1390432 CA023325 |
297 | R>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA402951269 rs1468076504 |
300 | I>V | No |
ClinGen TOPMed |
|
|
CA049466 rs587780012 |
301 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA402951286 RCV000489355 rs1085307466 |
302 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs727504171 CA023344 COSM1744476 |
303 | I>S | biliary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1363241574 CA402951330 |
306 | H>L | No |
ClinGen gnomAD |
|
|
rs1248289980 CA402951342 |
307 | S>I | No |
ClinGen gnomAD |
|
|
rs1599929264 RCV000986040 |
311 | K>missing | No |
ClinVar dbSNP |
|
|
rs1409790643 CA402951459 |
311 | K>N | No |
ClinGen gnomAD |
|
|
CA402951487 rs758416485 |
314 | P>A | No |
ClinGen ExAC gnomAD |
|
| VAR_065657 | 314 | P>H | colorectal cancer; no effect heterotrimeric complex assembly with STRADA and CAB39 [UniProt] | No | UniProt |
|
RCV001269188 rs864622303 |
316 | A>S | No |
ClinVar dbSNP |
|
|
rs1481299816 CA402951540 |
320 | V>L | No |
ClinGen gnomAD |
|
|
rs1464772848 CA402951557 |
322 | I>L | No |
ClinGen gnomAD |
|
|
rs1464772848 CA402951558 |
322 | I>V | No |
ClinGen gnomAD |
|
|
CA402951588 rs587781643 |
325 | S>N | No |
ClinGen gnomAD |
|
|
rs587781643 CA402951589 |
325 | S>T | No |
ClinGen gnomAD |
|
|
rs786200991 RCV000153995 |
330 | D>missing | No |
ClinVar dbSNP |
|
|
CA304028738 rs1034888250 |
330 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 330 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 332 | W>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 332 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 334 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402951714 rs769644352 |
339 | P>S | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 340 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964853039 CA304028812 |
348 | D>V | No |
ClinGen TOPMed |
|
|
CA044913 rs757815836 |
349 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA402951872 rs1424464160 |
357 | E>A | No |
ClinGen gnomAD |
|
|
CA045077 rs760918973 |
359 | D>G | No |
ClinGen ExAC |
|
|
rs765774300 CA402951953 |
365 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA402951992 rs1230130092 |
369 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402953504 rs1214125670 |
391 | C>R | No |
ClinGen TOPMed |
|
|
CA045737 rs746930791 |
392 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs770011294 CA045790 |
395 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs558040549 CA16620759 RCV000479740 |
397 | A>E | Peutz-jeghers syndrome (pjs) [Ensembl] | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA045854 rs768058962 |
398 | A>G | Peutz-jeghers syndrome (pjs) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747545317 CA304033618 |
400 | L>P | No |
ClinGen Ensembl |
|
|
rs556083961 CA046020 |
407 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1386678110 CA402953916 |
413 | P>A | No |
ClinGen gnomAD |
|
|
rs864622448 CA402953957 |
415 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402954021 rs1166243253 |
417 | A>D | No |
ClinGen TOPMed |
|
|
CA402954046 rs969257745 |
419 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs876661216 RCV000215979 |
421 | S>missing | No |
ClinVar dbSNP |
|
|
CA402954095 rs1253803683 |
421 | S>I | No |
ClinGen gnomAD |
|
|
rs876659704 CA10581019 |
421 | S>L | No |
ClinGen Ensembl |
|
|
CA402954085 rs1185729369 |
421 | S>R | No |
ClinGen gnomAD |
|
|
rs1568717494 RCV000723023 |
423 | K>missing | No |
ClinVar dbSNP |
|
|
rs1064795504 CA16620760 RCV000481685 |
424 | I>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA402954179 rs754853898 |
425 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402954202 rs1373682885 |
427 | L>R | No |
ClinGen TOPMed |
|
|
rs1371667554 CA402954224 |
429 | A>T | No |
ClinGen gnomAD |
|
|
CA402954323 rs1599932568 |
434 | Q>G | No |
ClinGen Ensembl |
3 associated diseases with Q15831
[MIM: 175200]: Peutz-Jeghers syndrome (PJS)
An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer. {ECO:0000269|PubMed:10408777, ECO:0000269|PubMed:12372054, ECO:0000269|PubMed:15987703, ECO:0000269|PubMed:21411391, ECO:0000269|PubMed:9425897, ECO:0000269|PubMed:9428765, ECO:0000269|PubMed:9760200, ECO:0000269|PubMed:9837816}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 273300]: Testicular germ cell tumor (TGCT)
A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including
Without disease ID
- An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer. {ECO:0000269|PubMed:10408777, ECO:0000269|PubMed:12372054, ECO:0000269|PubMed:15987703, ECO:0000269|PubMed:21411391, ECO:0000269|PubMed:9425897, ECO:0000269|PubMed:9428765, ECO:0000269|PubMed:9760200, ECO:0000269|PubMed:9837816}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including
4 regional properties for Q15831
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| intracellular protein-containing complex | A protein-containing complex located intracellularly. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| serine/threonine protein kinase complex | A protein complex which is capable of protein serine/threonine kinase activity. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| LRR domain binding | Binding to a LRR domain (leucine rich repeats) of a protein. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| p53 binding | Binding to one of the p53 family of proteins. |
| protein kinase activator activity | Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein-containing complex binding | Binding to a macromolecular complex. |
47 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| anoikis | Apoptosis triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix. |
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| cellular response to DNA damage stimulus | 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to UV-B | 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 UV-B radiation stimulus. UV-B radiation (UV-B light) spans the wavelengths 280 to 315 nm. |
| dendrite extension | Long distance growth of a single dendrite involved in cellular development. |
| epithelial cell proliferation involved in prostate gland development | The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population that contributes to the progression of the prostate gland over time. |
| establishment of cell polarity | The specification and formation of anisotropic intracellular organization or cell growth patterns. |
| G1 to G0 transition | A cell cycle arrest process that results in arrest during G1 phase, whereupon the cell enters a specialized resting state known as G0 or quiescence. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| Golgi localization | Any process in which the Golgi is transported to, and/or maintained in, a specific location within the cell. |
| intrinsic apoptotic signaling pathway by p53 class mediator | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, and ends when the execution phase of apoptosis is triggered. |
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| negative regulation of epithelial cell proliferation involved in prostate gland development | Any process that decreases the rate, frequency or extent of epithelial cell proliferation that contributes to the progression of the prostate gland over time. |
| negative regulation of TORC1 signaling | Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of axonogenesis | Any process that activates or increases the frequency, rate or extent of axonogenesis. |
| positive regulation of gluconeogenesis | Any process that activates or increases the frequency, rate or extent of gluconeogenesis. |
| positive regulation of protein localization to nucleus | Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. |
| positive regulation of transforming growth factor beta receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity. |
| positive regulation of vesicle transport along microtubule | Any process that activates or increases the frequency, rate or extent of vesicle transport along microtubule. |
| positive thymic T cell selection | The process of sparing immature T cells in the thymus which react with self-MHC protein complexes with low affinity levels from apoptotic death. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| protein localization to nucleus | A process in which a protein transports or maintains the localization of another protein to the nucleus. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| regulation of dendrite morphogenesis | Any process that modulates the frequency, rate or extent of dendrite morphogenesis. |
| regulation of protein kinase B signaling | Any process that modulates the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
| regulation of Wnt signaling pathway | Any process that modulates the frequency, rate or extent of the activity of the Wnt signal transduction pathway. |
| response to activity | 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 an activity stimulus. |
| response to glucagon | 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 glucagon stimulus. |
| response to ionizing radiation | 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 ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays. |
| response to lipid | 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 lipid stimulus. |
| response to thyroid hormone | 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 thyroid hormone stimulus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| tissue homeostasis | A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. |
| vasculature development | The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. |
64 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q02066 | Abscisic acid-inducible protein kinase | Triticum aestivum (Wheat) | PR | |
| Q5GLH2 | TRIB2 | Tribbles homolog 2 | Bos taurus (Bovine) | SS |
| Q0VCE3 | TRIB3 | Tribbles homolog 3 | Bos taurus (Bovine) | SS |
| Q3SZW1 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Bos taurus (Bovine) | PR |
| Q92519 | TRIB2 | Tribbles homolog 2 | Homo sapiens (Human) | SS |
| Q96RU7 | TRIB3 | Tribbles homolog 3 | Homo sapiens (Human) | PR |
| Q14680 | MELK | Maternal embryonic leucine zipper kinase | Homo sapiens (Human) | EV |
| Q96RU8 | TRIB1 | Tribbles homolog 1 | Homo sapiens (Human) | EV |
| Q13131 | PRKAA1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Homo sapiens (Human) | EV |
| Q96RG2 | PASK | PAS domain-containing serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| P54646 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Homo sapiens (Human) | EV |
| Q9BXA7 | TSSK1B | Testis-specific serine/threonine-protein kinase 1 | Homo sapiens (Human) | PR |
| Q96RR4 | CAMKK2 | Calcium/calmodulin-dependent protein kinase kinase 2 | Homo sapiens (Human) | PR |
| Q8K4K3 | Trib2 | Tribbles homolog 2 | Mus musculus (Mouse) | SS |
| Q8BRK8 | Prkaa2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Mus musculus (Mouse) | SS |
| Q61241 | Tssk1b | Testis-specific serine/threonine-protein kinase 1 | Mus musculus (Mouse) | PR |
| Q8K4K2 | Trib3 | Tribbles homolog 3 | Mus musculus (Mouse) | SS |
| Q61846 | Melk | Maternal embryonic leucine zipper kinase | Mus musculus (Mouse) | PR |
| O54863 | Tssk2 | Testis-specific serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
| Q5EG47 | Prkaa1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Mus musculus (Mouse) | SS |
| Q8K4K4 | Trib1 | Tribbles homolog 1 | Mus musculus (Mouse) | SS |
| Q28948 | PRKAA2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Sus scrofa (Pig) | SS |
| Q9WTQ6 | Trib3 | Tribbles homolog 3 | Rattus norvegicus (Rat) | SS |
| Q09137 | Prkaa2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Rattus norvegicus (Rat) | EV |
| P54645 | Prkaa1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Rattus norvegicus (Rat) | EV |
| Q5N942 | SAPK4 | Serine/threonine-protein kinase SAPK4 | Oryza sativa subsp japonica (Rice) | PR |
| Q75LR7 | SAPK1 | Serine/threonine-protein kinase SAPK1 | Oryza sativa subsp japonica (Rice) | PR |
| Q75H77 | SAPK10 | Serine/threonine-protein kinase SAPK10 | Oryza sativa subsp japonica (Rice) | PR |
| Q7Y0B9 | SAPK8 | Serine/threonine-protein kinase SAPK8 | Oryza sativa subsp japonica (Rice) | PR |
| Q7XQP4 | SAPK7 | Serine/threonine-protein kinase SAPK7 | Oryza sativa subsp japonica (Rice) | PR |
| Q852Q2 | OSK1 | Serine/threonine protein kinase OSK1 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6ZLP5 | CIPK23 | CBL-interacting protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q0D4J7 | SAPK2 | Serine/threonine-protein kinase SAPK2 | Oryza sativa subsp japonica (Rice) | PR |
| Q8LIG4 | CIPK3 | CBL-interacting protein kinase 3 | Oryza sativa subsp japonica (Rice) | PR |
| Q852Q1 | OSK4 | Serine/threonine protein kinase OSK4 | Oryza sativa subsp. japonica (Rice) | SS |
| P0C5D6 | SAPK3 | Serine/threonine-protein kinase SAPK3 | Oryza sativa subsp japonica (Rice) | PR |
| Q2RAX3 | CIPK33 | CBL-interacting protein kinase 33 | Oryza sativa subsp japonica (Rice) | PR |
| Q75V57 | SAPK9 | Serine/threonine-protein kinase SAPK9 | Oryza sativa subsp japonica (Rice) | PR |
| Q5JLQ9 | CIPK30 | CBL-interacting protein kinase 30 | Oryza sativa subsp japonica (Rice) | PR |
| Q5QNM6 | CIPK13 | Putative CBL-interacting protein kinase 13 | Oryza sativa subsp japonica (Rice) | PR |
| Q6ERS4 | CIPK16 | CBL-interacting protein kinase 16 | Oryza sativa subsp japonica (Rice) | PR |
| Q852Q0 | OSK3 | Serine/threonine protein kinase OSK3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q21017 | kin-29 | Serine/threonine-protein kinase kin-29 | Caenorhabditis elegans | SS |
| P45894 | aak-1 | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | Caenorhabditis elegans | SS |
| Q95ZQ4 | aak-2 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | Caenorhabditis elegans | SS |
| P43291 | SRK2A | Serine/threonine-protein kinase SRK2A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93VD3 | CIPK23 | CBL-interacting serine/threonine-protein kinase 23 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C958 | SRK2B | Serine/threonine-protein kinase SRK2B | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M9E9 | SRK2C | Serine/threonine-protein kinase SRK2C | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64812 | SRK2J | Serine/threonine-protein kinase SRK2J | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38997 | KIN10 | SNF1-related protein kinase catalytic subunit alpha KIN10 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P92958 | KIN11 | SNF1-related protein kinase catalytic subunit alpha KIN11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39192 | SRK2D | Serine/threonine-protein kinase SRK2D | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q940H6 | SRK2E | Serine/threonine-protein kinase SRK2E | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P43292 | SRK2G | Serine/threonine-protein kinase SRK2G | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LDI3 | CIPK24 | CBL-interacting serine/threonine-protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FLZ3 | KIN12 | SNF1-related protein kinase catalytic subunit alpha KIN12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q94CG0 | CIPK21 | CBL-interacting serine/threonine-protein kinase 21 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FFP9 | SRK2H | Serine/threonine-protein kinase SRK2H | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39193 | SRK2I | Serine/threonine-protein kinase SRK2I | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O65554 | CIPK6 | CBL-interacting serine/threonine-protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FJ54 | CIPK20 | CBL-interacting serine/threonine-protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22971 | CIPK13 | CBL-interacting serine/threonine-protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q2V452 | CIPK3 | CBL-interacting serine/threonine-protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVVDPQQLG | MFTEGELMSV | GMDTFIHRID | STEVIYQPRR | KRAKLIGKYL | MGDLLGEGSY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKVKEVLDSE | TLCRRAVKIL | KKKKLRRIPN | GEANVKKEIQ | LLRRLRHKNV | IQLVDVLYNE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKQKMYMVME | YCVCGMQEML | DSVPEKRFPV | CQAHGYFCQL | IDGLEYLHSQ | GIVHKDIKPG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLLLTTGGTL | KISDLGVAEA | LHPFAADDTC | RTSQGSPAFQ | PPEIANGLDT | FSGFKVDIWS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AGVTLYNITT | GLYPFEGDNI | YKLFENIGKG | SYAIPGDCGP | PLSDLLKGML | EYEPAKRFSI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RQIRQHSWFR | KKHPPAEAPV | PIPPSPDTKD | RWRSMTVVPY | LEDLHGADED | EDLFDIEDDI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IYTQDFTVPG | QVPEEEASHN | GQRRGLPKAV | CMNGTEAAQL | STKSRAEGRA | PNPARKACSA |
| 430 | |||||
| SSKIRRLSAC | KQQ |