Q9Y6X9
PR
Gene name |
MORC2 |
Protein name |
ATPase MORC2 |
Names |
MORC family CW-type zinc finger protein 2, Zinc finger CW-type coiled-coil domain protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22880 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q9Y6X9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5OF9 | X-ray | 181 A | A/B | 1-603 | PDB |
| 5OFA | X-ray | 257 A | A/B | 1-603 | PDB |
| 5OFB | X-ray | 202 A | A/B | 1-603 | PDB |
| AF-Q9Y6X9-F1 | Predicted | AlphaFoldDB |
698 variants for Q9Y6X9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000991193 RCV001281380 VAR_085367 rs1602510214 CA411534742 |
24 | T>I | Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy DIGFAN; increases HUSH-dependent gene silencing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002249596 RCV001796981 CA411534716 RCV002272381 RCV002549755 VAR_085368 RCV000991068 RCV001281381 rs1602510200 |
27 | E>K | Charcot-Marie-Tooth disease axonal type 2Z Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy Neurodevelopmental disorder Inborn genetic diseases MORC2-related neurodevelopmental disorders DIGFAN; increases HUSH-dependent gene silencing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10187357 COSM1327271 RCV001314220 rs574524678 |
55 | R>Q | ovary Charcot-Marie-Tooth disease axonal type 2Z [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000798700 rs760345377 CA10187356 |
58 | L>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs781481050 RCV001243594 COSM3783551 CA10187355 |
59 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000705875 CA10187353 rs748092969 RCV001572125 |
63 | M>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000530209 CA411246069 rs1555942389 |
74 | D>G | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694767 CA10187305 rs762809030 |
76 | S>N | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001231221 rs2040863533 |
80 | S>N | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424533 RCV000652685 RCV003156277 rs150980372 CA10187301 |
86 | K>N | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002433895 CA251315 VAR_076454 RCV000522454 rs864309504 RCV000202460 RCV000857126 RCV001255406 |
87 | S>L | Charcot-Marie-Tooth disease axonal type 2Z Global developmental delay Charcot-Marie-Tooth disease Inborn genetic diseases CMT2Z and DIGFAN; decreased ATPase activity; ATP-independent homodimerization; increases HUSH-dependent gene silencing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA411245171 rs1602499659 RCV000857312 VAR_085369 |
88 | A>V | Charcot-Marie-Tooth disease axonal type 2Z DIGFAN [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000658937 rs749060708 CA10187299 RCV001724119 VAR_076455 |
96 | Q>E | Charcot-Marie-Tooth disease axonal type 2Z CMT2Z; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001280716 RCV001333922 RCV002468630 rs2040817364 |
110 | R>C | Charcot-Marie-Tooth disease axonal type 2Z Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2040817042 RCV001212037 |
116 | I>T | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10187279 RCV000652681 rs748216749 |
119 | T>A | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001345115 rs2040816732 |
121 | K>E | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002271511 RCV001281382 RCV000991213 rs1064795559 RCV001374919 CA16621097 RCV000480527 VAR_085370 RCV000818851 |
132 | R>C | Charcot-Marie-Tooth disease axonal type 2Z Neurodevelopmental disorder Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy DIGFAN; increases HUSH-dependent gene silencing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1602496057 CA411244763 RCV000820512 |
132 | R>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10187242 rs768748502 RCV001053889 |
153 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs370868047 RCV002339206 RCV001041810 CA10187237 |
157 | P>R | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA411243913 RCV001229651 rs1316437948 |
161 | N>H | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10187234 VAR_085371 RCV002330968 RCV000556140 rs186458188 CA323278558 |
163 | E>D | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
rs1602491814 RCV000819439 CA411243853 |
165 | F>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1457131129 CA411243784 RCV001234480 |
170 | E>G | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10187232 rs144248516 RCV001035925 RCV002337085 |
173 | Y>S | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10187230 rs541114863 RCV000652686 |
179 | R>H | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000818196 rs750265510 CA10187229 |
181 | E>K | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001303828 CA411243474 rs1569195312 |
188 | F>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555940315 RCV000652676 CA411243460 |
189 | M>T | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10187202 VAR_085372 rs76273991 RCV000544977 RCV002483490 |
209 | N>S | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10187199 rs375266158 RCV000795809 |
217 | I>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411242743 RCV000697345 rs893153652 |
224 | Q>H | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_085373 CA10187197 rs774960940 RCV002365690 RCV001048067 |
228 | T>M | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001298351 CA323278164 rs199928683 |
234 | K>E | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2040742194 RCV001307684 |
235 | P>missing | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10586383 RCV000240855 rs886037934 VAR_076456 RCV000857125 |
236 | E>G | Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease CMT2Z; increases HUSH-dependent gene silencing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10187180 RCV000706478 RCV000624421 RCV002473075 rs371713427 |
238 | R>C | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs367766290 RCV000652678 CA10187179 |
238 | R>H | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA323278146 rs371713427 RCV001344012 RCV001776208 |
238 | R>S | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1355363942 RCV000857124 VAR_076457 RCV001209097 CA411241439 |
248 | Y>C | Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000202547 rs864309503 RCV000857123 RCV000624201 CA249695 VAR_076458 RCV001091566 RCV000857122 |
252 | R>W | Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease Variant assessed as Somatic; impact. Distal spinal muscular atrophy Inborn genetic diseases CMT2Z; slightly decreased ATPase activity; increases HUSH-dependent gene silencing [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs368260550 RCV000652675 CA10187171 |
259 | G>E | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16621096 RCV000479173 RCV000816128 rs1064796495 CA411241151 RCV001856876 VAR_085374 |
266 | R>S | Charcot-Marie-Tooth disease axonal type 2Z DIGFAN; increases HUSH-dependent gene silencing [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000652688 CA411241139 rs1555939986 |
267 | L>R | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001342749 rs2040740411 RCV002419009 |
268 | S>P | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs987083509 RCV000652684 CA323278084 |
272 | Y>F | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001238631 CA411240964 rs1235679626 COSM213772 |
276 | M>I | Charcot-Marie-Tooth disease axonal type 2Z breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs764379949 CA10187142 RCV003128415 RCV000652691 RCV002440368 |
280 | T>M | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001223836 COSM3405602 CA411240865 rs1482880426 VAR_076459 COSM3405603 |
283 | R>H | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000652694 CA411240661 CA411240663 rs772766261 |
298 | V>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs554250414 RCV001053571 CA10187105 |
306 | A>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10187103 COSM3785649 RCV001351459 COSM3785648 rs772692197 |
307 | R>W | Charcot-Marie-Tooth disease axonal type 2Z pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411240396 rs1368116984 RCV001298020 |
311 | S>G | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10187096 RCV001069648 rs751140985 |
314 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000805171 CA10187097 rs369654856 |
314 | R>W | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000664212 CA411240293 rs1163530787 |
319 | R>H | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199973357 RCV000536375 RCV002377166 CA10187090 |
323 | D>E | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs558057376 CA10187087 RCV000550833 |
326 | R>W | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10187060 RCV001231610 rs777252717 |
334 | Q>E | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411239836 RCV000820724 rs1602487890 |
340 | I>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs368475981 CA10187056 RCV001325210 |
343 | R>C | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10187055 RCV003129916 rs753651729 RCV000524780 |
343 | R>H | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10187052 rs750686775 RCV000857121 RCV000857120 |
345 | E>K | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10187049 COSM1033342 RCV001347760 COSM1592956 rs138994326 |
347 | D>N | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1268129848 RCV000686746 CA411239630 |
360 | L>F | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1602486072 RCV000819053 |
361 | K>missing | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762901266 CA10187030 RCV000821745 |
373 | N>S | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343449 rs2040683848 |
378 | D>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991278 CA411239340 rs1602485958 VAR_085375 |
388 | S>R | DIGFAN [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_085376 rs1555938796 RCV000498431 RCV000689169 CA411239301 RCV000624267 |
394 | Y>C | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases DIGFAN and CMT2Z [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_085377 | 400 | Q>R | CMT2Z [UniProt] | Yes | UniProt |
|
rs1489926879 CA411239206 RCV001038866 |
405 | M>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001215495 RCV000857119 CA411239143 rs1602485728 TCGA novel RCV001027506 |
406 | A>V | Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
rs1555938741 RCV000656229 CA411239132 |
407 | C>F | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555938741 RCV000817470 CA411239136 VAR_085378 |
407 | C>Y | Charcot-Marie-Tooth disease axonal type 2Z CMT2Z [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10187006 rs766871664 RCV000857118 |
410 | V>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1602485677 VAR_085379 RCV000991069 CA411239063 |
413 | V>F | DIGFAN; increases HUSH-dependent gene silencing [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001598685 RCV001265828 rs2040680054 |
422 | E>G | Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2040679845 RCV001871631 RCV001281379 VAR_085380 |
431 | A>V | Charcot-Marie-Tooth disease axonal type 2Z Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy CMT2Z [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1370510062 RCV001307835 CA411238807 |
433 | A>G | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001302288 rs2040679430 |
435 | E>D | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220188 rs2040679348 |
437 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_076460 | 444 | G>R | CMT2Z; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001216765 rs2040678770 |
447 | L>R | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2040678442 RCV001301903 |
449 | Q>R | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1007541711 RCV001346353 CA323276479 |
453 | D>N | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA411238511 rs1569192110 RCV000694058 |
460 | G>E | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_085381 | 466 | D>N | CMT2Z; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000705171 CA411237755 rs897870181 |
482 | E>D | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs367704663 RCV000814817 CA323272865 |
483 | L>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1415753 RCV001843582 rs143046507 RCV001313180 RCV002543620 CA10186971 |
484 | R>H | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000805263 CA411237720 rs1602485184 |
489 | R>K | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687756 CA411237715 rs1569192031 |
490 | A>T | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2040663423 RCV001211818 |
511 | Q>R | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068396 rs1407971807 CA411237536 |
514 | S>C | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555938391 CA411237494 RCV000652677 |
520 | P>S | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10186923 rs749364295 RCV000821041 |
521 | D>Y | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10186917 rs750003469 RCV000796227 |
535 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001215016 RCV002402640 CA10186918 rs576981610 |
535 | R>W | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2040655936 RCV001308250 |
542 | K>N | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411237275 RCV000804984 rs1338480863 |
550 | F>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002399424 rs267606222 CA10186882 RCV000497343 |
569 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001232282 rs2040654543 |
575 | L>M | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756912389 CA10186878 RCV000696534 |
577 | A>S | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000700120 CA10186858 rs770774096 |
583 | P>T | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_076462 RCV000857116 RCV001775959 rs548292999 RCV000688838 CA10186856 |
585 | R>C | Charcot-Marie-Tooth disease axonal type 2Z Autosomal dominant distal hereditary motor neuropathy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002399955 RCV000875267 rs137983239 CA10186855 |
585 | R>H | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691126 CA10186845 rs200774292 |
600 | R>K | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1602482166 RCV000820109 RCV002264020 CA411236035 |
606 | P>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000652690 rs1555937777 CA411236013 |
607 | V>A | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216115 rs751657222 CA10186824 |
611 | Q>R | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1569190645 RCV000699209 |
621 | V>missing | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799930 rs1602481898 CA411235337 |
640 | Q>E | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10186804 RCV001295655 rs373881103 |
642 | R>* | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765892287 RCV002409353 CA10186803 RCV001034791 |
642 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10186799 RCV002406760 RCV000798275 rs200703581 |
648 | S>G | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000652692 RCV002406472 CA10186798 rs371710965 |
650 | T>I | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10186796 RCV000702791 rs763542037 |
652 | K>N | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs769791429 CA10186793 RCV001229932 |
659 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747230744 CA10186789 RCV001051440 |
670 | P>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs778099643 CA10186788 RCV000688565 |
673 | A>G | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10186785 rs563612262 RCV000706224 |
675 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001241364 rs2040630159 |
680 | T>A | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558469 RCV002270667 rs144493873 RCV001354178 CA10186784 RCV002420523 |
682 | V>I | Charcot-Marie-Tooth disease axonal type 2Z Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000823268 CA10186780 rs201772330 |
687 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs560948457 RCV000692860 CA10186778 RCV002422503 |
689 | A>V | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA323271275 rs897158764 RCV000652682 |
698 | S>P | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002422594 rs201032497 RCV000704761 CA10186770 |
702 | N>K | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10186767 RCV000652687 rs768807060 |
707 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000652679 CA10186765 rs780648306 |
710 | P>S | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1031845854 CA323271219 RCV001297524 |
724 | E>G | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2040627406 RCV001059250 |
726 | P>A | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602481313 CA411234447 RCV000804294 |
727 | I>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM124482 RCV000658936 CA10186755 rs760522350 RCV001053037 |
731 | P>L | upper_aerodigestive_tract Charcot-Marie-Tooth disease axonal type 2Z [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001053422 rs186049675 CA10186736 |
735 | S>G | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs142840638 CA10186732 RCV000791773 |
743 | S>Y | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000815446 RCV002422822 rs746418433 CA10186728 |
748 | V>A | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000686354 rs1247915167 |
751 | E>missing | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2040618367 RCV001053799 |
756 | K>T | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447303 RCV001304161 CA10186725 rs774444542 VAR_076463 |
757 | E>G | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10186722 rs754626172 RCV000821756 |
761 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA10186723 rs369384586 RCV000547285 |
761 | R>W | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA411234104 rs1396767941 RCV001308337 |
764 | F>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000817210 CA411232833 rs751495570 |
782 | E>D | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002442658 CA10186694 rs551185965 RCV000801242 |
785 | S>L | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001314496 CA10186689 rs766384151 |
787 | D>E | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210395 rs2040606407 |
793 | K>N | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1236354994 CA411232512 VAR_085382 |
798 | H>R | CMT2Z; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA10186653 RCV001236067 rs370149816 |
799 | V>M | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001297854 rs759734334 RCV003166667 CA323269738 |
804 | N>S | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1163301326 CA411232373 RCV001344031 |
811 | R>H | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001068541 rs2040597405 |
818 | G>S | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2040597232 RCV001061060 |
822 | V>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764479914 RCV001215592 CA10186647 |
823 | R>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10186643 rs760341830 RCV001228781 |
835 | T>M | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000623450 rs1555936598 CA658799534 |
869 | G>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs143046823 CA10186612 COSM1215359 RCV001341486 |
869 | G>R | Charcot-Marie-Tooth disease axonal type 2Z large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000808774 rs1602477856 CA411231917 |
877 | A>V | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1388475410 CA411231911 RCV002424534 RCV000652693 |
878 | Q>H | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10186607 RCV001061589 rs767254485 |
878 | Q>L | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411231908 rs1399798893 RCV001340100 |
879 | Q>E | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10186604 rs372199572 RCV000815989 |
882 | A>T | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372297066 COSM1415748 CA10186600 RCV000821392 RCV001824892 |
884 | A>T | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001091565 RCV001313292 rs201090445 RCV002451317 CA10186595 |
890 | E>K | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10186593 RCV001223760 rs150496681 RCV002429950 |
893 | R>C | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000814838 CA10186591 rs202243108 |
893 | R>H | Charcot-Marie-Tooth disease axonal type 2Z Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA411231783 RCV000534380 rs1555936530 |
900 | A>S | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs779496791 RCV001862674 RCV001090280 |
901 | L>M | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141633101 CA10186587 RCV001307472 |
902 | S>T | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs1042426757 RCV000691812 CA323269515 |
904 | N>S | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000688951 rs1569188333 CA411231709 |
912 | V>F | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10186553 rs768569356 RCV000793908 |
926 | S>G | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1602477282 RCV000857115 |
932 | K>missing | Charcot-Marie-Tooth disease, type I [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1413895387 RCV001222766 |
932 | K>N | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436623 rs750335952 CA10186520 RCV001056629 |
960 | N>K | Charcot-Marie-Tooth disease axonal type 2Z Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001040521 CA10186519 RCV001784225 RCV002440403 rs781162787 RCV000658935 COSM3379305 COSM3379304 |
963 | N>S | Charcot-Marie-Tooth disease axonal type 2Z pancreas Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1485425350 RCV000548906 CA411229864 |
972 | R>W | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1307310663 RCV001244957 CA411229806 |
981 | R>C | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10186510 RCV000526856 rs771410096 |
982 | T>A | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745339848 CA10186503 RCV000795893 |
990 | T>M | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001068115 rs2040516792 |
992 | E>missing | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10186499 RCV001238431 rs778221935 |
1002 | V>M | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001344643 CA411229496 rs1202036526 |
1010 | E>Q | Charcot-Marie-Tooth disease axonal type 2Z [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA323626809 rs958734314 |
2 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411536381 rs958734314 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411536356 rs1273255920 |
4 | T>A | No |
ClinGen TOPMed |
|
|
CA411536324 rs1467310640 |
6 | Y>H | No |
ClinGen gnomAD |
|
|
CA411536306 rs1213563782 |
7 | S>G | No |
ClinGen TOPMed |
|
|
rs1243735560 CA411536255 |
10 | N>I | No |
ClinGen TOPMed |
|
|
CA323626807 rs1034098965 |
11 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1386472984 CA411536224 |
12 | A>G | No |
ClinGen gnomAD |
|
|
CA10187378 rs769126155 |
13 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1181048709 CA411536182 |
15 | T>P | No |
ClinGen TOPMed |
|
|
CA411536184 rs1181048709 |
15 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411534679 rs1204561176 |
30 | F>L | No |
ClinGen gnomAD |
|
|
CA323625770 rs964012011 |
32 | A>S | No |
ClinGen gnomAD |
|
|
CA411534657 rs964012011 |
32 | A>T | No |
ClinGen gnomAD |
|
|
CA411534624 rs1368333018 |
37 | V>F | No |
ClinGen gnomAD |
|
|
rs907123120 CA323625589 |
43 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 47 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369209707 CA411534224 |
50 | I>F | No |
ClinGen gnomAD |
|
|
CA411246290 rs1452151243 |
56 | E>D | No |
ClinGen gnomAD |
|
|
rs1202793669 CA411246265 |
59 | R>* | No |
ClinGen gnomAD |
|
|
CA411246232 rs748092969 |
63 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10187351 rs768530375 |
74 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323283476 rs898196410 |
75 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775429252 CA10187304 |
78 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10187302 rs376351739 |
80 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377160735 CA411245275 |
81 | V>L | No |
ClinGen gnomAD |
|
|
CA411245268 rs1286183996 |
82 | I>V | No |
ClinGen gnomAD |
|
|
CA411245204 rs1602499678 |
86 | K>R | No |
ClinGen Ensembl |
|
|
rs374633215 CA323282926 |
90 | R>* | No |
ClinGen gnomAD |
|
|
CA411245155 rs374633215 |
90 | R>G | No |
ClinGen gnomAD |
|
|
CA411245055 RCV000991279 rs1602499631 |
98 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA411244919 rs1165276920 |
109 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs141387374 CA10187285 |
109 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411244910 rs980180430 |
110 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA323280824 rs980180430 |
110 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411244890 rs1169862798 |
113 | K>N | No |
ClinGen gnomAD |
|
|
rs747210413 CA10187282 |
116 | I>V | No |
ClinGen ExAC |
|
|
rs542809980 CA10187281 |
117 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199669947 CA323280792 |
125 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 125 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411244801 rs1223721150 |
126 | T>A | No |
ClinGen gnomAD |
|
|
rs755523808 CA10187277 |
126 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1223721150 CA411244802 |
126 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751196420 CA10187273 |
129 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs757957309 CA10187271 |
130 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10187270 rs553943877 |
133 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553943877 CA323280781 |
133 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144582460 CA10187268 |
135 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411244712 rs1376548988 |
140 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs914516076 CA323278581 |
143 | V>A | No |
ClinGen Ensembl |
|
|
CA10187246 rs563571840 |
144 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1319960845 CA411244115 |
146 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1419852601 CA411244065 |
149 | T>I | No |
ClinGen gnomAD |
|
|
rs1255740355 CA411244015 |
152 | A>G | No |
ClinGen gnomAD |
|
|
CA10187243 rs774502307 |
153 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290294192 CA411243993 |
154 | T>I | No |
ClinGen TOPMed |
|
|
CA10187239 rs770383175 |
155 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10187240 rs775518683 |
155 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746347871 CA10187238 |
156 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10187236 rs771133022 |
160 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA411243847 rs1382883492 |
165 | F>Y | No |
ClinGen gnomAD |
|
|
CA323278545 rs906292521 |
167 | I>S | No |
ClinGen TOPMed |
|
|
CA411243809 rs1319360253 |
168 | E>G | No |
ClinGen gnomAD |
|
|
CA323278539 rs1024657020 |
169 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411243629 rs1368311291 |
179 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA411243626 rs541114863 |
179 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1344522060 CA411243613 |
180 | T>I | No |
ClinGen TOPMed |
|
|
rs1188036088 CA411243603 |
181 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs892112351 CA323278523 |
183 | E>K | No |
ClinGen TOPMed |
|
|
rs1463459057 CA411243514 |
186 | T>I | No |
ClinGen gnomAD |
|
|
rs1360752364 CA411243491 |
188 | F>I | No |
ClinGen TOPMed |
|
|
rs767362421 CA10187228 |
189 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1205445337 CA411243468 |
189 | M>V | No |
ClinGen gnomAD |
|
|
CA411243405 rs1246495857 |
192 | P>S | No |
ClinGen gnomAD |
|
|
rs1359737661 CA411243356 |
195 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752850286 CA10187206 |
199 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10187205 rs765371898 |
200 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10187204 rs369472062 |
203 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10187203 rs777224974 |
207 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 208 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049739010 CA323278389 |
211 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs375266158 CA10187200 |
217 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1250884654 CA411242848 |
217 | I>M | No |
ClinGen gnomAD |
|
|
rs1202548308 CA411242806 |
221 | R>G | No |
ClinGen gnomAD |
|
|
CA10187198 rs748966530 |
222 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273034005 CA411242692 |
227 | E>D | No |
ClinGen gnomAD |
|
|
CA411242659 rs1273596532 |
230 | P>S | No |
ClinGen gnomAD |
|
|
rs924468105 CA323278364 |
233 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs768020550 CA10187182 |
234 | K>R | No |
ClinGen ExAC |
|
|
rs886037934 RCV001091567 |
236 | E>A | No |
ClinVar dbSNP |
|
|
CA323278160 rs1032069292 |
236 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA411241621 rs1338741504 |
237 | R>Q | No |
ClinGen gnomAD |
|
|
rs762233089 CA10187181 |
237 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367766290 CA10187178 |
238 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411241588 rs1387852860 |
239 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10187176 rs770361627 |
240 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs930399394 CA323278126 |
241 | R>H | No |
ClinGen gnomAD |
|
|
CA411241532 rs1412806730 |
242 | A>S | No |
ClinGen TOPMed |
|
|
rs562392125 CA10187175 |
243 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA323278122 rs920259742 |
243 | Y>N | No |
ClinGen Ensembl |
|
|
rs771884588 CA10187173 |
245 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 255 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462125201 CA411241326 |
256 | F>V | No |
ClinGen gnomAD |
|
|
CA10187170 rs755209985 |
260 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1258894762 CA411241211 |
262 | V>L | No |
ClinGen TOPMed |
|
|
rs1258894762 CA411241213 |
262 | V>M | No |
ClinGen TOPMed |
|
|
CA10187167 rs756217725 |
268 | S>F | No |
ClinGen ExAC |
|
|
rs1345535484 CA411241048 |
274 | P>L | No |
ClinGen gnomAD |
|
|
CA411241054 rs1432892101 |
274 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765158896 CA323277848 |
283 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 285 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs935186407 CA323277847 |
286 | T>A | No |
ClinGen TOPMed |
|
|
rs1362772722 CA411240806 |
287 | R>L | No |
ClinGen TOPMed |
|
|
CA323277836 rs370353700 |
288 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA411240716 rs1300486034 |
294 | K>E | No |
ClinGen gnomAD |
|
|
rs1602489703 CA411240695 |
295 | A>V | No |
ClinGen Ensembl |
|
|
CA10187138 rs760296192 |
297 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10187137 rs772766261 |
298 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770948694 CA10187106 |
303 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs927299691 CA323277376 |
304 | E>G | No |
ClinGen Ensembl |
|
|
rs1320772373 CA411240455 |
306 | A>S | No |
ClinGen gnomAD |
|
|
rs748648749 CA10187102 |
307 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411240423 rs1383231363 |
309 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779251830 CA10187101 |
310 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411240365 rs1269392743 |
313 | A>S | No |
ClinGen TOPMed |
|
|
CA10187099 rs369654856 |
314 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10187095 rs763511089 |
315 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA411240333 rs1205535409 |
316 | L>S | No |
ClinGen gnomAD |
|
|
rs1428608028 CA411240325 |
317 | E>Q | No |
ClinGen TOPMed |
|
|
rs752625837 CA10187093 |
319 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771231575 CA10187089 |
325 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771231575 CA323277323 |
325 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569193677 CA411240213 |
326 | R>L | No |
ClinGen Ensembl |
|
|
CA411240216 rs1569193677 |
326 | R>Q | No |
ClinGen Ensembl |
|
|
rs1383136576 CA411240181 |
328 | S>F | No |
ClinGen gnomAD |
|
|
rs1390155636 CA411239901 |
330 | V>L | No |
ClinGen gnomAD |
|
|
CA411239902 rs1390155636 |
330 | V>M | No |
ClinGen gnomAD |
|
|
CA10187061 COSM1415754 rs746698035 |
333 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1602487915 CA411239868 |
335 | V>G | No |
ClinGen Ensembl |
|
|
rs758213183 CA323277170 |
335 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 339 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758093788 CA10187059 |
339 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10187058 rs747708903 |
341 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10187057 rs778551880 |
342 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA411239818 rs753651729 |
343 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755812939 CA10187053 |
344 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA10187051 rs767764185 |
346 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1232906681 CA411239791 |
348 | V>F | No |
ClinGen gnomAD |
|
|
CA411239774 rs1376305551 |
350 | K>R | No |
ClinGen gnomAD |
|
|
CA10187047 rs763533156 |
351 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10187046 rs775812123 |
356 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1198727868 CA411239719 |
358 | R>* | No |
ClinGen gnomAD |
|
|
rs200173132 CA10187045 |
358 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 359 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 363 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 365 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10187031 rs764182125 |
369 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA323276539 rs897821512 |
372 | V>F | No |
ClinGen TOPMed |
|
|
CA411239446 rs1366873443 |
374 | I>T | No |
ClinGen gnomAD |
|
|
RCV000762066 rs1424834448 CA411239429 |
376 | H>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA411239425 rs1313283174 |
377 | R>Q | No |
ClinGen TOPMed |
|
|
rs1400428370 CA411239344 |
388 | S>I | No |
ClinGen gnomAD |
|
|
CA411239336 rs1260621137 |
389 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 390 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411239276 rs1602485921 |
397 | V>A | No |
ClinGen Ensembl |
|
|
CA411239217 rs1268869835 |
404 | G>R | No |
ClinGen TOPMed |
|
|
CA411239112 rs1325489365 |
409 | G>R | No |
ClinGen gnomAD |
|
|
CA10187004 rs773676225 |
413 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1602485656 CA411239033 |
415 | D>E | No |
ClinGen Ensembl |
|
| VAR_081260 | 424 | T>R | probable disease-associated variant found in a child with spinal atrophy-phenotype, cerebellar atrophy and diaphragmatic paralysis; also found in a second child with early onset cerebellar ataxia, axonal polyneuropathy and nocturanl hypoventilation; increased ATPase activity; increased rate of dimer assembly and disassembly; decreased HUSH-dependent gene silencing [UniProt] | No | UniProt |
|
rs966144186 CA323276496 |
431 | A>T | No |
ClinGen Ensembl |
|
|
CA411238756 rs1265201907 |
440 | L>V | No |
ClinGen TOPMed |
|
|
CA411238751 rs1401669660 |
441 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411238736 rs1468553790 |
443 | M>I | No |
ClinGen gnomAD |
|
|
rs1017598329 CA323276491 |
443 | M>T | No |
ClinGen Ensembl |
|
|
rs958295807 CA323276486 |
448 | A>V | No |
ClinGen TOPMed |
|
|
CA10186997 rs770823800 |
452 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1462459493 CA411238610 |
454 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746856419 CA10186996 |
454 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1256419099 CA411238599 |
455 | A>D | No |
ClinGen gnomAD |
|
| rs777612473 | 456 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411238596 rs1237819801 |
456 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1314795197 CA411238592 |
456 | I>S | No |
ClinGen gnomAD |
|
|
CA411238597 rs1237819801 |
456 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1240259176 CA411238588 |
457 | A>T | No |
ClinGen gnomAD |
|
|
rs769617472 CA323276450 |
459 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 461 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_076461 | 466 | D>H | No | UniProt | |
|
rs868206159 CA323276442 |
469 | G>C | No |
ClinGen Ensembl |
|
|
rs200785275 CA323276437 |
474 | N>S | No |
ClinGen Ensembl |
|
|
rs772885530 CA10186976 |
476 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1426394911 CA411237777 |
479 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779155513 CA10186973 |
481 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA10186972 rs755216417 |
484 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs780264849 CA10186970 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756749223 CA10186969 |
487 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10186968 rs750886983 |
488 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411237725 rs1356503784 |
488 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1325022440 CA411237704 |
491 | M>I | No |
ClinGen gnomAD |
|
|
rs767798376 CA10186967 |
491 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1280514766 CA411237697 |
492 | E>G | No |
ClinGen gnomAD |
|
|
CA411237689 rs1602485131 |
493 | I>T | No |
ClinGen Ensembl |
|
|
CA323272838 rs866130346 |
494 | P>S | No |
ClinGen Ensembl |
|
|
CA411237676 rs1365491718 |
495 | T>I | No |
ClinGen TOPMed |
|
|
rs1602485103 CA411237680 |
495 | T>P | No |
ClinGen Ensembl |
|
|
rs928480423 CA411237675 |
496 | T>P | No |
ClinGen TOPMed |
|
|
rs928480423 CA323272823 |
496 | T>S | No |
ClinGen TOPMed |
|
| rs1345120667 | 499 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA323272822 COSM1415752 rs201852637 |
500 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10186928 rs775818503 |
501 | L>V | No |
ClinGen ExAC |
|
|
rs868463276 CA323272487 |
509 | P>S | No |
ClinGen Ensembl |
|
|
rs1173395818 CA411237558 |
511 | Q>* | No |
ClinGen TOPMed |
|
|
rs781119754 CA10186925 |
513 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA411237540 rs1419132371 |
514 | S>T | No |
ClinGen TOPMed |
|
|
CA411237512 rs1602484320 |
518 | D>N | No |
ClinGen Ensembl |
|
|
CA10186924 rs771536089 |
520 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10186922 rs778121452 |
522 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA323272447 rs944979254 |
527 | M>T | No |
ClinGen Ensembl |
|
|
CA411237432 rs1569191635 |
529 | P>L | No |
ClinGen Ensembl |
|
|
rs753519224 CA10186920 |
529 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 530 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411237417 rs368467051 |
531 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368467051 CA10186919 |
531 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs971787077 CA323272230 |
543 | Q>E | No |
ClinGen TOPMed |
|
|
CA411237299 rs1320542815 |
547 | L>M | No |
ClinGen gnomAD |
|
|
CA411237281 rs1228858484 |
550 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 554 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776665575 COSM1286245 CA10186888 |
556 | T>M | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 561 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773249903 CA10186885 |
563 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 564 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 565 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411237164 rs1467916987 |
565 | T>I | No |
ClinGen TOPMed |
|
|
CA411237166 rs1467916987 |
565 | T>K | No |
ClinGen TOPMed |
|
|
rs748648883 CA10186883 |
567 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs149057277 CA10186880 |
569 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149057277 CA10186881 |
569 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780749674 CA10186879 |
573 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1199054962 CA411237050 |
579 | Q>R | No |
ClinGen gnomAD |
|
|
rs1602482447 CA411236412 |
584 | I>M | No |
ClinGen Ensembl |
|
|
CA10186850 rs779894782 |
590 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA10186852 rs146972491 |
590 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10186847 rs767604848 |
598 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1602482350 CA411236225 |
600 | R>S | No |
ClinGen Ensembl |
|
|
CA411236208 rs764568031 |
601 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186844 rs764568031 |
601 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1214680334 | 604 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779836770 CA10186829 |
606 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411236049 rs779836770 |
606 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323271551 rs141345937 |
607 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10186827 rs373963382 |
608 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10186828 rs373963382 |
608 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781443418 CA10186826 |
608 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186825 rs757458854 |
609 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 610 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764168751 CA10186823 |
612 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10186822 rs763388376 |
612 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA411235866 rs1399556111 |
614 | R>Q | No |
ClinGen gnomAD |
|
|
rs753203218 CA10186821 |
614 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1602482085 TCGA novel CA411235841 |
615 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA10186819 rs760016835 |
617 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1602482056 CA411235797 |
618 | L>F | No |
ClinGen Ensembl |
|
|
CA10186818 rs777110123 |
619 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA411235767 rs1459400105 |
620 | A>T | No |
ClinGen gnomAD |
|
|
rs1469187350 CA411235760 |
621 | V>M | No |
ClinGen TOPMed |
|
|
CA323271498 rs936078755 |
622 | I>V | No |
ClinGen TOPMed |
|
|
CA10186816 rs761518693 |
624 | N>S | No |
ClinGen ExAC |
|
|
rs773737902 CA10186815 |
625 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA411235637 rs773737902 |
625 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA411235645 rs1476604092 |
625 | A>T | No |
ClinGen gnomAD |
|
|
rs773737902 CA411235634 |
625 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs147842214 CA10186813 |
626 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA411235595 rs1267147618 |
628 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411235585 rs775365134 |
628 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769699735 CA10186811 |
629 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA323271478 rs745722246 |
629 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10186810 rs745722246 |
629 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411235508 rs1218394103 |
631 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs757425274 CA10186808 |
634 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA411235461 rs1602481937 |
634 | T>P | No |
ClinGen Ensembl |
|
|
rs1280299638 CA411235440 |
635 | P>S | No |
ClinGen gnomAD |
|
|
rs747199830 CA411235395 |
636 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs777740636 CA10186806 |
637 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs758467225 CA10186805 |
638 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388377935 CA411235325 |
641 | P>S | No |
ClinGen gnomAD |
|
|
rs1463865042 CA411235300 |
643 | K>E | No |
ClinGen gnomAD |
|
|
rs755526155 CA10186802 |
645 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754318159 CA10186800 |
647 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477506756 CA411235222 |
647 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 650 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411235143 rs1602481820 |
650 | T>P | No |
ClinGen Ensembl |
|
|
rs774005231 CA10186797 |
652 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs762562780 CA10186795 |
654 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 654 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10186794 rs774970275 |
655 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA411234954 rs1025079681 |
658 | A>S | No |
ClinGen gnomAD |
|
|
CA323271400 rs1025079681 |
658 | A>T | No |
ClinGen gnomAD |
|
|
rs781527357 CA323271388 |
659 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs776424321 CA10186791 |
660 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs776424321 CA10186792 |
660 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA411234917 rs1444539161 |
662 | A>D | No |
ClinGen gnomAD |
|
|
CA10186790 rs770714218 |
662 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411234878 rs1402143255 |
665 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1413491250 CA411234859 |
666 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1399587798 CA411234849 |
667 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 673 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178513326 CA411234765 |
674 | P>A | No |
ClinGen gnomAD |
|
|
CA10186787 rs758529949 |
674 | P>L | No |
ClinGen ExAC |
|
|
rs1569190434 CA411234741 |
677 | P>L | No |
ClinGen Ensembl |
|
|
rs959580850 CA323271360 |
678 | A>T | No |
ClinGen Ensembl |
|
|
rs766675520 CA10186782 |
684 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 686 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309955820 CA411234685 |
687 | R>G | No |
ClinGen gnomAD |
|
|
rs1456920538 CA411234676 |
688 | P>L | No |
ClinGen TOPMed |
|
|
CA10186777 rs752208368 |
690 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1064796551 RCV000482384 |
691 | L>HL | No |
ClinVar dbSNP |
|
|
rs142307145 CA10186775 |
691 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs151033664 CA323271285 |
694 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10186773 rs770746258 |
697 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772866972 CA10186771 COSM1415751 |
700 | L>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1569190330 CA411234598 |
702 | N>S | No |
ClinGen Ensembl |
|
|
rs748310325 CA10186769 |
703 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA411234591 rs1569190308 |
703 | S>F | No |
ClinGen Ensembl |
|
|
CA411234586 rs1286651998 |
704 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1602481443 CA411234571 |
706 | P>R | No |
ClinGen Ensembl |
|
|
rs1386693989 CA411234573 |
706 | P>S | No |
ClinGen gnomAD |
|
|
rs779144529 CA10186768 |
707 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs201652834 CA10186766 COSM1581257 COSM1581258 |
708 | E>D | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 709 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA323271242 rs1015638849 |
709 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1296015586 CA411234549 |
710 | P>L | No |
ClinGen gnomAD |
|
|
rs1360682657 CA411234539 |
712 | P>H | No |
ClinGen gnomAD |
|
|
rs1360682657 CA411234537 |
712 | P>L | No |
ClinGen gnomAD |
|
|
CA411234540 rs1401272017 |
712 | P>S | No |
ClinGen gnomAD |
|
|
CA10186764 rs572065690 |
713 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750868340 CA10186763 |
716 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs781347453 CA10186762 |
718 | P>R | No |
ClinGen ExAC |
|
|
rs1411986814 CA411234491 |
720 | V>L | No |
ClinGen gnomAD |
|
|
rs564766575 CA10186761 CA411234481 |
721 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs892018476 CA323271225 |
721 | K>R | No |
ClinGen TOPMed |
|
|
CA411234454 rs1475628051 |
725 | S>L | No |
ClinGen gnomAD |
|
|
CA323271217 rs1000336064 |
726 | P>L | No |
ClinGen TOPMed |
|
|
CA411234440 rs1189904059 |
728 | K>E | No |
ClinGen gnomAD |
|
|
CA411234438 rs1191862462 |
728 | K>R | No |
ClinGen gnomAD |
|
|
rs759091855 CA10186758 |
730 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs766400089 CA10186756 |
731 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA411234402 rs1369195279 |
732 | A>G | No |
ClinGen gnomAD |
|
|
CA411234400 rs1602480508 |
733 | T>A | No |
ClinGen Ensembl |
|
|
rs1208548110 CA411234395 |
733 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 734 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 734 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA323270658 COSM1415750 rs957333682 |
736 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs767451837 CA10186735 COSM71673 |
736 | R>W | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761740534 CA10186734 |
738 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA323270648 rs543735221 |
740 | V>I | No |
ClinGen 1000Genomes |
|
|
CA411234353 rs774264562 |
741 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186733 rs774264562 |
741 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355314928 CA411234341 |
743 | S>P | No |
ClinGen gnomAD |
|
|
CA10186731 rs763203419 |
744 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA411234293 rs1236088807 |
750 | E>K | No |
ClinGen gnomAD |
|
|
rs1255016937 CA411234280 |
751 | E>G | No |
ClinGen gnomAD |
|
|
rs777048144 CA10186726 |
751 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1207662510 CA411234273 |
752 | A>T | No |
ClinGen gnomAD |
|
|
rs747434209 CA10186724 |
759 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 763 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411234116 rs1393469763 |
764 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1381697088 CA411234060 |
768 | E>G | No |
ClinGen gnomAD |
|
|
rs924947796 CA323270597 |
769 | E>K | No |
ClinGen TOPMed |
|
|
rs1446108389 CA411234041 |
769 | E>V | No |
ClinGen gnomAD |
|
|
RCV000598874 CA411234016 rs1555937236 |
771 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1174370013 CA411233993 |
772 | D>E | No |
ClinGen gnomAD |
|
|
rs554785074 CA10186720 |
773 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418966449 CA411233990 |
773 | S>T | No |
ClinGen gnomAD |
|
|
rs1486497006 CA411233032 |
776 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 777 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411232964 rs1022082270 |
779 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10186696 rs757275863 |
779 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA323270064 rs1022082270 |
779 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1337452928 CA411232823 |
783 | E>* | No |
ClinGen gnomAD |
|
|
rs1294128558 CA411232800 |
784 | D>G | No |
ClinGen gnomAD |
|
|
CA10186691 rs765437788 |
786 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs752518393 CA10186692 |
786 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773667183 CA10186686 |
789 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217262379 CA411232694 |
789 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 790 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA323270040 rs772600152 |
791 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10186685 rs772600152 |
791 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1425097407 CA411232646 |
793 | K>Q | No |
ClinGen gnomAD |
|
|
rs1259713033 CA411232523 |
797 | L>Q | No |
ClinGen TOPMed |
|
|
rs1254339344 CA411232514 |
798 | H>Y | No |
ClinGen gnomAD |
|
|
rs1489333271 CA411232475 |
801 | V>M | No |
ClinGen TOPMed |
|
|
rs1048664434 CA323269741 |
803 | V>M | No |
ClinGen Ensembl |
|
|
rs554086969 CA10186651 |
807 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767566826 CA10186650 |
811 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1396182121 CA411232353 |
815 | V>M | No |
ClinGen gnomAD |
|
|
rs1158644986 CA411232347 |
816 | E>K | No |
ClinGen gnomAD |
|
|
rs752066714 CA10186648 |
817 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776728654 CA323269729 |
820 | H>P | No |
ClinGen Ensembl |
|
|
CA411232275 rs1602478392 |
826 | V>G | No |
ClinGen Ensembl |
|
|
CA411232240 rs1452993249 |
831 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA411232228 rs1486061047 |
833 | T>A | No |
ClinGen gnomAD |
|
|
rs1287094385 CA411232220 |
834 | D>G | No |
ClinGen TOPMed |
|
| rs748062673 | 840 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771558349 CA10186641 |
840 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA323269641 rs954359222 |
842 | V>L | No |
ClinGen TOPMed |
|
|
rs1319601548 CA411232134 |
845 | G>D | No |
ClinGen gnomAD |
|
|
CA411232130 rs1405133799 |
846 | S>R | No |
ClinGen gnomAD |
|
|
rs775277249 CA10186619 |
848 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167291928 CA411232110 |
848 | D>E | No |
ClinGen gnomAD |
|
|
rs1380344040 CA411232114 |
848 | D>N | No |
ClinGen TOPMed |
|
|
CA10186618 rs373048769 |
850 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1184836129 CA411232074 |
854 | P>S | No |
ClinGen gnomAD |
|
|
rs1232833094 CA411232067 |
855 | P>L | No |
ClinGen gnomAD |
|
|
rs369585779 CA10186616 |
855 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1279734763 CA411232058 |
857 | P>A | No |
ClinGen TOPMed |
|
|
CA411232054 rs1345884860 |
857 | P>L | No |
ClinGen TOPMed |
|
|
rs1212477212 CA411232046 |
858 | E>D | No |
ClinGen TOPMed |
|
|
rs1198148351 CA411232051 |
858 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 861 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411232009 rs1274820228 |
863 | D>E | No |
ClinGen gnomAD |
|
|
CA411231997 rs1480181047 |
865 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375217252 CA323269609 |
870 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA411231966 rs1255812110 |
870 | E>Q | No |
ClinGen gnomAD |
|
|
rs753210391 CA10186611 |
872 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602477880 CA411231940 |
873 | V>G | No |
ClinGen Ensembl |
|
|
CA10186610 CA411231943 rs138350528 |
873 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186608 rs754127740 |
875 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1379697348 CA411231890 |
881 | I>M | No |
ClinGen TOPMed |
|
|
CA10186606 rs761366027 |
881 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs372199572 CA10186605 |
882 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762899928 CA10186603 |
882 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10186602 rs775447036 |
883 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 884 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776286972 CA10186599 |
885 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411231875 rs1194004265 |
885 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10186598 rs771192309 |
887 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10186597 rs747144945 |
889 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA411231848 rs747144945 |
889 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 891 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10186594 rs748203997 |
892 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10186592 rs202243108 |
893 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411231824 rs1376706321 |
894 | I>V | No |
ClinGen gnomAD |
|
|
rs371685129 CA10186590 |
895 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10186589 rs756946772 |
896 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1569188407 CA411231792 |
898 | T>I | No |
ClinGen Ensembl |
|
|
CA10186588 rs751164695 |
901 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA411231774 rs1432991533 |
902 | S>G | No |
ClinGen gnomAD |
|
|
COSM1729308 rs762499940 COSM1729307 CA10186585 |
903 | T>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411231756 rs1402877477 |
905 | H>Y | No |
ClinGen TOPMed |
|
|
VAR_085383 CA10186582 rs759328437 |
906 | E>K | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs770586964 CA10186580 |
909 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA323269499 rs374410153 |
910 | L>M | No |
ClinGen ESP TOPMed |
|
|
CA411231719 rs1602477563 |
910 | L>P | No |
ClinGen Ensembl |
|
|
rs772397976 CA10186577 |
914 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1316632272 CA411231691 |
915 | L>I | No |
ClinGen gnomAD |
|
|
rs974685925 CA323269463 |
916 | R>Q | No |
ClinGen TOPMed |
|
|
CA411231684 rs1305351282 |
916 | R>W | No |
ClinGen gnomAD |
|
|
CA411231599 rs767914603 |
918 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186555 rs762057484 |
920 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411231515 rs768569356 |
926 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411231438 rs1341365393 |
930 | S>Y | No |
ClinGen TOPMed |
|
|
CA411231408 rs1290632259 |
932 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 936 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749832228 CA10186552 |
936 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA411231275 rs1349107983 |
938 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775910270 CA10186551 |
940 | D>H | No |
ClinGen ExAC |
|
|
rs770321874 CA10186550 |
943 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1162268371 CA411231120 |
943 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1235246986 CA411231097 |
944 | S>C | No |
ClinGen gnomAD |
|
|
rs1417889591 CA411231052 |
946 | P>L | No |
ClinGen gnomAD |
|
|
rs1285225047 CA411230018 |
949 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 958 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 958 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA323267013 rs111941582 |
962 | C>F | No |
ClinGen Ensembl |
|
|
CA10186518 rs757157506 |
967 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186516 rs764290080 |
968 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370918395 CA10186515 |
968 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1252988467 CA411229878 |
970 | D>N | No |
ClinGen gnomAD |
|
|
rs142559213 CA323266965 |
971 | S>C | No |
ClinGen 1000Genomes |
|
|
CA411229863 rs1278082078 |
972 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1236422279 CA411229860 |
973 | A>T | No |
ClinGen gnomAD |
|
|
rs1569186001 CA411229841 |
975 | A>V | No |
ClinGen Ensembl |
|
|
CA411229840 rs1479285921 |
976 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10186511 rs777166169 |
977 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337135631 CA411229820 |
978 | E>D | No |
ClinGen gnomAD |
|
|
COSM1033338 rs901120411 COSM1592960 CA323266953 |
981 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA411229801 rs771410096 |
982 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186508 rs773617883 |
984 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10186506 rs748910060 |
988 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186505 rs747693260 |
988 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235978797 CA411229739 |
991 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 992 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000523340 rs1555935291 |
992 | E>missing | No |
ClinVar dbSNP |
|
|
CA323266911 rs949572717 |
996 | K>N | No |
ClinGen gnomAD |
|
|
CA10186498 rs778221935 |
1002 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10186497 rs752921354 |
1003 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342054043 CA411228892 |
1011 | D>N | No |
ClinGen gnomAD |
|
|
CA10186462 rs746468192 |
1016 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs12330040 CA323265817 |
1022 | A>P | No |
ClinGen gnomAD |
|
|
CA411228735 rs12330040 |
1022 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411228703 rs1353963202 |
1024 | I>N | No |
ClinGen gnomAD |
|
|
CA411228701 rs1353963202 |
1024 | I>T | No |
ClinGen gnomAD |
|
|
rs1187544796 CA411228615 |
1030 | K>T | No |
ClinGen TOPMed |
|
|
rs1173000971 CA411228603 |
1031 | G>E | No |
ClinGen gnomAD |
|
|
rs1452280768 CA411228573 |
1033 | D>W | No |
ClinGen gnomAD |
2 associated diseases with Q9Y6X9
[MIM: 616688]: Charcot-Marie-Tooth disease 2Z (CMT2Z)
An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
[MIM: 619090]: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN)
An autosomal dominant disease characterized by developmental delay, intellectual disability, hypotonia, poor growth, short stature, microcephaly, and variable craniofacial dysmorphism. Patients often present weakness, hyporeflexia, and electrophysiologic abnormalities consistent with an axonal sensorimotor peripheral neuropathy. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. Disease severity is highly variable. {ECO:0000269|PubMed:32693025}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
- An autosomal dominant disease characterized by developmental delay, intellectual disability, hypotonia, poor growth, short stature, microcephaly, and variable craniofacial dysmorphism. Patients often present weakness, hyporeflexia, and electrophysiologic abnormalities consistent with an axonal sensorimotor peripheral neuropathy. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. Disease severity is highly variable. {ECO:0000269|PubMed:32693025}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
6 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. |
| heterochromatin | A compact and highly condensed form of chromatin that is refractory to transcription. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| identical protein binding | Binding to an identical protein or proteins. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| zinc ion binding | Binding to a zinc ion (Zn). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| fatty acid metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| negative regulation of gene expression, epigenetic | An epigenetic process that silences gene expression at specific genomic regions through chromatin remodelling either by modifying higher order chromatin fiber structure, nucleosomal histones, or the DNA. |
| negative regulation of single stranded viral RNA replication via double stranded DNA intermediate | Any process that stops, prevents, or reduces the frequency, rate or extent of single stranded viral RNA replication via double stranded DNA intermediate. |
| positive regulation of DNA methylation-dependent heterochromatin assembly | Any process that increases the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q14149 | MORC3 | MORC family CW-type zinc finger protein 3 | Homo sapiens (Human) | EV |
| Q8TE76 | MORC4 | MORC family CW-type zinc finger protein 4 | Homo sapiens (Human) | SS |
| F7BJB9 | Morc3 | MORC family CW-type zinc finger protein 3 | Mus musculus (Mouse) | SS |
| Q8BMD7 | Morc4 | MORC family CW-type zinc finger protein 4 | Mus musculus (Mouse) | SS |
| Q8C5W4 | Morc2b | ATPase MORC2B | Mus musculus (Mouse) | PR |
| Q69ZX6 | Morc2a | ATPase MORC2A | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFTNYSSLN | RAQLTFEYLH | TNSTTHEFLF | GALAELVDNA | RDADATRIDI | YAERREDLRG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GFMLCFLDDG | AGMDPSDAAS | VIQFGKSAKR | TPESTQIGQY | GNGLKSGSMR | IGKDFILFTK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEDTMTCLFL | SRTFHEEEGI | DEVIVPLPTW | NARTREPVTD | NVEKFAIETE | LIYKYSPFRT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEEVMTQFMK | IPGDSGTLVI | IFNLKLMDNG | EPELDIISNP | RDIQMAETSP | EGTKPERRSF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RAYAAVLYID | PRMRIFIHGH | KVQTKRLSCC | LYKPRMYKYT | SSRFKTRAEQ | EVKKAEHVAR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IAEEKAREAE | SKARTLEVRL | GGDLTRDSRV | MLRQVQNRAI | TLRREADVKK | RIKEAKQRAL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KEPKELNFVF | GVNIEHRDLD | GMFIYNCSRL | IKMYEKVGPQ | LEGGMACGGV | VGVVDVPYLV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LEPTHNKQDF | ADAKEYRHLL | RAMGEHLAQY | WKDIAIAQRG | IIKFWDEFGY | LSANWNQPPS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SELRYKRRRA | MEIPTTIQCD | LCLKWRTLPF | QLSSVEKDYP | DTWVCSMNPD | PEQDRCEASE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QKQKVPLGTF | RKDMKTQEEK | QKQLTEKIRQ | QQEKLEALQK | TTPIRSQADL | KKLPLEVTTR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PSTEEPVRRP | QRPRSPPLPA | VIRNAPSRPP | SLPTPRPASQ | PRKAPVISST | PKLPALAARE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EASTSRLLQP | PEAPRKPANT | LVKTASRPAP | LVQQLSPSLL | PNSKSPREVP | SPKVIKTPVV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KKTESPIKLS | PATPSRKRSV | AVSDEEEVEE | EAERRKERCK | RGRFVVKEEK | KDSNELSDSA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GEEDSADLKR | AQKDKGLHVE | VRVNREWYTG | RVTAVEVGKH | VVRWKVKFDY | VPTDTTPRDR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| WVEKGSEDVR | LMKPPSPEHQ | SLDTQQEGGE | EEVGPVAQQA | IAVAEPSTSE | CLRIEPDTTA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LSTNHETIDL | LVQILRNCLR | YFLPPSFPIS | KKQLSAMNSD | ELISFPLKEY | FKQYEVGLQN |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LCNSYQSRAD | SRAKASEESL | RTSERKLRET | EEKLQKLRTN | IVALLQKVQE | DIDINTDDEL |
| 1030 | |||||
| DAYIEDLITK | GD |