Q9UGJ0
PR
Gene name |
PRKAG2 |
Protein name |
5'-AMP-activated protein kinase subunit gamma-2 |
Names |
AMPK gamma2, AMPK subunit gamma-2, H91620p |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51422 |
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
1 structures for Q9UGJ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UGJ0-F1 | Predicted | AlphaFoldDB |
512 variants for Q9UGJ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs574029693 CA056620 RCV001189600 |
9 | K>M | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA169183684 RCV001179404 RCV000623460 RCV000765950 RCV003106003 rs1041124171 |
11 | K>E | Lethal congenital glycogen storage disease of heart Cardiomyopathy Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16612205 rs1060503025 RCV000457488 RCV000786199 |
11 | K>I | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA056988 RCV001875985 RCV001180384 rs768453540 |
13 | D>G | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002325250 RCV000773293 RCV000641184 rs150188173 CA057020 |
14 | V>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000694065 CA370071986 rs1563775284 |
15 | S>P | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA169183671 RCV001524936 RCV002343276 rs368522976 RCV000641180 RCV001712773 |
19 | G>E | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003125870 RCV000038949 CA014413 rs116605521 RCV000332853 RCV000387303 RCV000248696 RCV000227227 RCV000770267 RCV001529923 |
20 | S>I | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002365570 RCV001861642 CA16605293 RCV000425731 rs1057524523 COSM452659 |
22 | G>S | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000694808 CA057815 RCV001191954 rs780864954 |
23 | K>Q | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA370071935 RCV002534060 RCV000773404 rs1280299073 |
23 | K>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001165267 rs1268890991 RCV001806030 RCV001165268 |
30 | R>S | Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001187424 rs778222674 |
35 | V>L | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050672 rs2080409943 |
36 | H>R | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001360947 RCV000780647 RCV003128695 CA169183611 COSM1087465 rs377603922 |
36 | H>Y | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP |
|
rs984007665 CA169183596 RCV001347678 RCV001192150 |
38 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA054342 RCV001526132 RCV001163175 rs139653890 RCV001163176 RCV001224536 |
40 | L>Q | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000770265 RCV000766630 CA013467 RCV001087117 RCV002381313 RCV000038913 rs144857453 |
44 | A>T | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000769260 CA013751 RCV000159023 COSM3366867 RCV000228178 rs730880984 |
44 | A>V | Lethal congenital glycogen storage disease of heart kidney Cardiomyopathy [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10576724 RCV000219304 rs373477232 RCV002518189 |
46 | P>L | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373477232 CA054900 RCV001187706 |
46 | P>Q | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA169174481 RCV001294807 rs761196275 CA169174477 |
49 | D>E | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA370070054 rs1430071393 RCV001231860 |
50 | G>R | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs878855019 CA10582473 RCV000231392 |
54 | G>D | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA013960 RCV000698517 rs397517266 RCV002260602 RCV001178860 RCV000038925 RCV001270142 |
56 | G>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1289539756 RCV001191738 |
58 | H>L | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770100112 CA056261 RCV001301855 RCV001187235 |
61 | R>* | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001371678 RCV000038928 CA014016 rs369687307 |
62 | K>N | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001191484 RCV002560116 CA056418 rs764915841 |
66 | P>S | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA014025 RCV002415695 COSM1449361 RCV001795281 RCV001179302 RCV000278666 rs730880970 RCV000158992 RCV000390669 |
68 | G>S | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome large_intestine Wolff-Parkinson-White pattern [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001181340 CA014035 RCV000038929 RCV003162341 rs182750960 RCV002513516 RCV000766631 |
69 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000267792 CA056510 RCV002429323 RCV000377613 RCV001488798 rs199963585 RCV001187909 |
75 | G>A | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA056562 RCV001235808 rs368871685 |
82 | Q>R | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA056576 RCV000310891 RCV000776284 RCV000366118 RCV001706595 RCV000390159 rs757900380 RCV002429322 |
83 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000038932 RCV000853032 CA014069 RCV001161648 rs148791216 RCV000474056 RCV000620131 RCV000771174 RCV001158447 RCV001529077 |
83 | P>S | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001170707 rs61746358 |
84 | R>G | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001719755 RCV000618885 RCV000464971 CA014088 RCV000771891 RCV000038933 rs201953758 |
84 | R>Q | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA014079 RCV000154803 RCV002426748 rs61746358 RCV001528309 RCV000769256 RCV000206844 |
84 | R>W | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001181588 CA370069794 rs1471914210 |
89 | M>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001806042 CA169172012 rs375398155 RCV001205143 |
92 | P>H | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA370069775 rs1170556084 RCV001186583 RCV000785136 |
92 | P>T | Cardiomyopathy Hypertrophic cardiomyopathy 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2076656944 RCV001158446 RCV001158445 |
93 | V>A | Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2076656799 RCV001185385 |
96 | K>Q | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA370069735 rs1243030792 RCV001307460 |
98 | S>G | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA013456 RCV000148737 RCV000314869 RCV001529977 RCV000247427 rs79474211 RCV000776032 RCV001258286 RCV000038934 RCV000490302 RCV000229228 |
100 | G>S | Lethal congenital glycogen storage disease of heart Cardiomyopathy Renal cysts and diabetes syndrome PRKAG2 cardiac syndrome Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001190509 rs2076655530 |
104 | T>N | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397517269 RCV001224749 RCV001177608 RCV000038936 CA014132 RCV001265884 COSM1449360 RCV000767091 |
105 | V>M | Lethal congenital glycogen storage disease of heart Cardiomyopathy large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002444661 RCV000691716 RCV001186289 CA014141 RCV000159026 rs730880985 |
107 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001079478 RCV001177609 CA014153 rs139579816 RCV003224125 RCV000038937 RCV000589928 |
109 | S>A | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001059227 RCV001191265 rs2076654551 |
109 | S>missing | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000869940 COSM360378 rs778331706 RCV001181536 RCV002454000 CA056780 RCV001549665 |
111 | Q>K | lung Lethal congenital glycogen storage disease of heart Cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA370069648 rs1563659108 RCV000687937 |
112 | E>G | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001165165 RCV002032515 RCV001175845 RCV002491475 rs375174733 RCV001546980 RCV001165164 CA056823 RCV002451346 |
114 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA056808 RCV001361345 rs375174733 RCV001192176 RCV002451401 |
114 | P>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000159037 RCV001053172 COSM284250 RCV000766632 rs730880989 RCV001189390 CA014161 |
116 | R>C | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001236792 COSM291174 rs369471907 RCV002451571 CA056852 |
116 | R>H | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA056864 RCV002451438 RCV001206151 rs369471907 |
116 | R>L | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA056873 RCV001184825 RCV000485663 rs372433693 |
117 | S>F | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA370069613 RCV000641189 rs1554596200 |
118 | P>S | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700184 RCV001526073 rs142808871 CA014170 RCV000038938 RCV000766633 RCV000620450 |
119 | R>Q | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA056893 RCV001525625 rs763144065 RCV001203605 |
120 | R>C | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA056900 RCV001176900 RCV002060545 rs775756069 RCV000656222 |
120 | R>H | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Wolff-Parkinson-White pattern [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs775756069 RCV001059896 |
120 | R>P | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231871 CA056913 rs760511236 |
121 | M>V | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001337882 rs1379819489 CA370069514 RCV001189548 |
126 | I>V | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2076651870 RCV001299219 |
128 | R>C | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
CA056963 RCV001187662 rs748790230 RCV000414421 RCV001309725 |
130 | S>Y | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000280703 RCV000335863 rs779753891 RCV001795983 RCV001187918 RCV002488803 RCV002356489 CA056993 |
132 | K>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1386603764 RCV001057138 CA370069386 |
136 | P>A | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001350593 rs1386603764 |
136 | P>S | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869025498 CA351918 RCV000208282 |
137 | N>I | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2076650862 RCV001198986 |
138 | S>C | Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001190925 rs755782342 RCV001858892 RCV000998952 CA057028 |
140 | P>S | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001067812 rs2076650288 |
142 | T>A | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397517270 RCV000769254 RCV000515233 RCV000415017 RCV000284645 RCV000491968 RCV000038939 CA014190 RCV000656954 RCV000379140 RCV000226771 |
142 | T>I | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern Arrhythmogenic right ventricular dysplasia 9 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397517271 RCV001064983 RCV001182264 RCV001569922 RCV000038940 CA014201 |
143 | S>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001189388 rs150140412 RCV000825443 RCV002326907 RCV001371420 RCV001165163 CA014220 RCV000159028 RCV000852580 RCV001163072 |
144 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000853425 rs886062101 RCV000367717 CA10628504 RCV002524527 RCV000328054 RCV003168557 |
145 | G>R | Lethal congenital glycogen storage disease of heart Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2076649283 RCV001177762 |
148 | R>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340952 RCV000786198 rs752783859 RCV002332574 RCV001181711 CA057107 |
152 | R>C | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001001078 rs765374050 CA057115 RCV001530039 RCV000617256 RCV000474308 RCV001185261 |
152 | R>H | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA370069175 rs1586486518 RCV000812479 |
153 | S>C | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1832796232 RCV001241299 RCV002499403 |
158 | G>D | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014259 RCV002336332 rs727504512 RCV001177593 RCV000155655 RCV001719977 RCV000457420 |
158 | G>S | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001184068 rs1832795622 RCV001363141 RCV003163436 |
159 | L>F | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773530 CA169447546 rs748557485 |
161 | S>C | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA057367 RCV001175772 RCV002555447 rs748557485 |
161 | S>F | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001562897 RCV000700427 rs1002236859 RCV002265863 |
162 | S>missing | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000555477 RCV002338686 rs876657963 CA10576723 RCV000223656 RCV001191617 |
163 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA057410 RCV001346875 rs766578540 |
167 | T>I | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002336366 RCV001850232 CA014270 rs730880972 RCV000158996 |
172 | Q>E | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA169447544 RCV001191156 RCV001320680 rs969117866 |
172 | Q>P | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1832789600 RCV001170706 |
174 | T>A | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001170705 RCV000151679 RCV000620500 rs148056866 RCV000675710 CA014289 RCV001087682 |
174 | T>M | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA014320 RCV000769251 RCV001852814 RCV000038945 RCV001163067 RCV001161543 rs397517273 |
178 | E>K | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA057466 RCV000641188 rs765259437 RCV001180335 |
181 | K>Q | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1221506447 RCV001176659 |
182 | H>Q | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131692281 RCV000496067 RCV001525488 CA370187934 |
183 | E>K | Cardiomyopathy Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001179981 rs545533727 |
184 | P>S | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001559913 rs397517274 RCV000531085 RCV001184217 CA014332 RCV000038946 |
185 | E>V | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001806070 RCV001235391 RCV002282494 RCV003166454 CA169447540 rs145006140 |
186 | R>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001310611 RCV002345546 CA014350 RCV002484990 RCV001189389 rs145006140 RCV001857574 |
186 | R>Q | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001186247 CA014340 rs200392688 RCV002484989 RCV002345545 RCV000158998 RCV001239320 |
186 | R>W | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000618526 RCV002531867 CA057513 RCV000769250 COSM255271 rs772303730 |
188 | E>K | Lethal congenital glycogen storage disease of heart Cardiomyopathy central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313339 CA057522 rs772303730 |
188 | E>Q | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000485651 rs551795395 CA16618418 RCV002525935 |
190 | R>L | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000466658 rs202200501 CA16612324 |
190 | R>S | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002485668 RCV002352146 RCV000694013 CA057563 RCV001187698 rs145669999 |
194 | S>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs750592417 RCV001178710 |
195 | S>F | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013480 RCV001186288 rs267601424 RCV000159000 RCV001052457 |
196 | S>F | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001197920 CA16043427 RCV000414843 rs368637364 RCV001508228 RCV000798522 |
197 | P>R | Lethal congenital glycogen storage disease of heart Coronary artery disorder Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs753859556 RCV001182300 |
198 | P>A | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000619075 RCV000519766 rs41317142 RCV000233598 RCV002487082 RCV001180377 CA057639 |
198 | P>L | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002355041 rs41317142 CA057629 RCV001054760 RCV001177642 |
198 | P>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000822131 rs753859556 CA057621 RCV003169032 |
198 | P>S | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000778137 RCV000038947 rs397517275 RCV001178861 RCV000807791 |
199 | D>missing | Lethal congenital glycogen storage disease of heart Cardiomyopathy PRKAG2-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554530705 CA370187519 RCV000641183 |
201 | G>E | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA057687 RCV001178189 RCV000586981 rs182084936 RCV000693052 |
206 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001795010 RCV002477108 RCV000371199 CA014426 rs397517277 RCV000038951 RCV000331754 |
207 | S>C | Lethal congenital glycogen storage disease of heart Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA370187312 rs1554530665 RCV000641185 |
208 | S>T | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190367 rs1585679990 |
210 | Q>L | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA370187243 rs1585679990 RCV000804469 |
210 | Q>R | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002368888 RCV003098208 CA057721 rs768909087 |
211 | S>N | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730880987 CA014454 RCV001320344 RCV001804880 |
214 | R>G | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001180678 CA057761 rs781267213 |
214 | R>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001179572 RCV000819608 CA169447534 rs200181419 |
220 | P>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001185949 rs1832761436 |
221 | T>A | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA370186920 RCV000641179 rs1289045435 |
222 | H>R | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001190437 rs730880974 RCV000159001 CA014463 |
223 | Y>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821713 rs766460601 CA057810 |
227 | K>E | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766460601 RCV001189566 |
227 | K>Q | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860413 RCV000619555 RCV000769248 CA370071373 rs1554507908 |
230 | A>V | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375160 CA058090 rs745772277 RCV001211193 |
231 | L>V | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA370071363 rs1338523761 RCV000769247 |
232 | A>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001352369 rs201240745 |
233 | A>E | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699614 RCV001161541 RCV001161542 RCV000588424 RCV000769246 RCV000038955 CA014502 RCV003162342 RCV001199301 RCV001256863 rs201240745 |
233 | A>G | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878855020 RCV000232939 RCV003165645 |
234 | A>missing | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002365655 RCV001553387 CA058124 RCV001181139 rs751094298 RCV003224290 RCV000465041 |
235 | L>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001177944 RCV002559733 CA370071329 rs1183522324 |
236 | G>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
CA014511 rs200736454 RCV001170703 RCV000622232 RCV001088403 RCV000786197 |
238 | A>T | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002555458 RCV001176401 RCV001350874 CA370071297 rs1184637689 |
238 | A>V | Lethal congenital glycogen storage disease of heart Cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA370071291 rs1271179381 RCV000824171 |
239 | E>K | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001224007 rs1824657994 |
240 | A>V | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
CA058166 RCV001316536 rs543247293 RCV001184889 RCV002491542 |
243 | L>V | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1824644597 RCV001342623 |
247 | E>G | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513518 rs397517281 RCV000038957 CA014536 |
247 | E>Q | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1585369730 CA370071160 RCV002550730 RCV000998950 |
249 | E>Q | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179477 CA169171322 rs796699703 |
251 | E>* | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1814251529 RCV001180731 |
253 | V>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807615 rs1585114507 RCV002406803 |
261 | Y>missing | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003163434 rs886062100 RCV001183836 |
263 | R>* | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1814241368 RCV001191048 |
264 | F>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001185654 rs1814227620 |
288 | Q>H | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014597 RCV001161537 RCV001184494 rs730880975 RCV000159003 RCV001448251 RCV001161538 |
289 | V>A | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397517282 RCV001852815 RCV002460899 RCV000038958 RCV002496622 RCV001184219 CA014575 |
289 | V>I | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001857573 RCV000159002 CA014585 rs397517282 |
289 | V>L | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352130 RCV000208535 rs869025499 RCV000678732 |
290 | K>E | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213304 rs1808950153 |
290 | K>I | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1673690 CA014610 RCV001231512 rs193922697 RCV000497723 RCV000030377 |
293 | F>L | Lethal congenital glycogen storage disease of heart Cardiomyopathy large_intestine Hypertrophic cardiomyopathy [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000159004 CA014622 rs730880976 RCV002515081 |
298 | A>V | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002369682 rs121908987 RCV000641187 CA370072449 |
302 | R>P | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000458247 RCV000768489 RCV000621452 RCV000769245 RCV000211845 VAR_013264 rs121908987 CA014644 RCV000007248 RCV000159005 RCV002222346 RCV000007249 |
302 | R>Q | Lethal congenital glycogen storage disease of heart Cardiomyopathy Primary familial hypertrophic cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern WPW and CMH6; impaired AMP- and ATP-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001041446 rs1808933429 |
304 | A>G | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001182434 rs748873027 CA058772 |
313 | S>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000159007 RCV001850233 CA014702 rs730880977 |
323 | F>C | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014681 rs397517283 RCV000038962 |
323 | F>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612131 RCV000475770 rs1060503023 |
326 | I>M | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014713 rs730880988 RCV000159033 RCV000618394 RCV001352585 |
327 | L>V | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001320685 RCV000770262 RCV000788369 rs775005432 CA058916 RCV002487572 RCV003166033 |
333 | S>A | Lethal congenital glycogen storage disease of heart Cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000535478 RCV000786200 rs730880978 CA013501 RCV001185250 RCV002399578 RCV000159008 |
335 | M>T | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000617676 RCV000766635 RCV000155991 RCV000815410 CA013508 rs727504707 COSM314439 |
336 | V>I | lung Lethal congenital glycogen storage disease of heart [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA370072164 RCV000768490 rs1563161306 |
341 | L>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013518 rs727504392 RCV000154556 RCV000223800 |
344 | H>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001256862 rs755029209 |
346 | I>M | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760258924 RCV000811646 CA053152 RCV002390639 |
347 | E>G | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002388077 RCV000641182 CA370072098 RCV003129955 rs1330644534 |
350 | R>K | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000007251 rs587776643 |
350 | R>L | Hypertrophic cardiomyopathy 6 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_013265 | 350 | R>RL | CMH6; severe [UniProt] | Yes | UniProt |
|
CA370071810 RCV000550368 rs1554459431 |
353 | Y>C | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000641178 CA370071806 rs1554459423 |
354 | L>V | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1227002684 RCV001188045 CA370071780 RCV001773436 RCV002560005 |
357 | T>I | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001065786 rs1807219152 |
367 | D>G | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429805 CA053424 RCV001319964 RCV001178706 rs769212614 |
368 | A>S | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001170700 rs769212614 |
368 | A>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA053674 RCV001205816 rs769892556 |
371 | F>Y | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001165047 RCV000560606 CA169166228 RCV001529850 rs760826751 RCV001158332 RCV000620896 RCV001177891 |
372 | D>N | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001753407 rs121908988 VAR_013266 CA013609 RCV000603714 RCV000007250 RCV002512868 |
383 | H>R | Lethal congenital glycogen storage disease of heart Hypertrophic cardiomyopathy 6 CMH6; severe; impaired AMP- and ATP-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA013633 RCV000162026 rs730882148 |
384 | R>T | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1425296851 RCV001187539 RCV002559981 RCV002327447 CA370071539 |
391 | I>T | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001875936 rs1806859703 RCV001179460 |
395 | A>V | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641176 rs1554457901 CA370071481 |
400 | T>A | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000211739 CA013659 VAR_013267 RCV000007252 rs28938173 |
400 | T>N | Hypertrophic cardiomyopathy 6 Hypertrophic cardiomyopathy CMH6; severe; impaired AMP- and ATP-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000230623 CA10582471 rs878855017 |
401 | H>D | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001176443 rs1806853581 |
402 | K>E | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002559707 RCV002497618 RCV001176928 CA054597 RCV002365844 rs758756757 |
413 | S>C | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA013686 RCV000766390 RCV000038912 RCV000770260 RCV000157423 RCV000234404 rs147349145 |
423 | Q>K | Lethal congenital glycogen storage disease of heart Cardiomyopathy Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001066308 rs1806121695 RCV003223698 |
427 | E>K | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001190110 rs1806116546 |
435 | N>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687199 RCV001191112 CA013708 RCV002381485 RCV000675709 RCV001199317 rs200589374 |
435 | N>S | Lethal congenital glycogen storage disease of heart Cardiomyopathy Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000208144 RCV001309746 RCV000397978 rs762111172 CA054752 RCV000342209 |
437 | A>G | Lethal congenital glycogen storage disease of heart Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000853464 RCV000038914 rs370257703 RCV000766636 RCV001348266 CA013732 |
439 | I>V | Lethal congenital glycogen storage disease of heart Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001081726 rs201878539 RCV000038915 RCV001178107 CA013743 RCV000621627 RCV000724478 |
440 | H>Y | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001323434 RCV001165046 CA054788 rs199863116 RCV001165045 |
442 | D>N | Lethal congenital glycogen storage disease of heart Hypertrophic cardiomyopathy 6 Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001186364 rs1344209675 |
445 | I>F | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554455087 RCV000548868 CA370070989 |
446 | I>S | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs940818676 RCV001191047 CA169165519 RCV002559183 |
454 | E>G | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs747840565 RCV001181879 CA054874 |
455 | R>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779098740 RCV001875905 RCV001178599 CA054886 |
456 | R>G | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002516394 RCV001294191 RCV003162665 RCV000766637 CA013760 RCV000159013 COSM263100 rs730880980 |
456 | R>Q | Lethal congenital glycogen storage disease of heart large_intestine Variant assessed as Somatic; impact. endometrium Hypertrophic cardiomyopathy 6 Inborn genetic diseases [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000521039 rs1554455000 CA370070917 RCV003224311 |
458 | S>A | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1806096948 RCV001089636 |
459 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000678733 RCV000233882 rs878855018 CA10582470 |
460 | L>V | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000338704 RCV000038916 rs397517264 RCV000377013 CA013769 RCV000766638 RCV000208297 RCV000771796 RCV000284911 RCV002390164 RCV000999607 |
464 | D>N | Lethal congenital glycogen storage disease of heart Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 6 Hypertrophic cardiomyopathy Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001179999 rs1806009426 RCV001875967 |
470 | V>I | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071299 rs1806007620 |
474 | S>A | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001187891 CA055045 RCV001231602 rs778668093 |
478 | V>I | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1806004431 RCV001223603 |
479 | I>T | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181749 rs1469637477 CA370070720 |
484 | E>Q | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA370070709 rs1554453641 RCV000507451 |
485 | K>T | Hypertrophic cardiomyopathy 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001304697 rs1805709675 |
487 | Y>C | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000159015 rs267606976 RCV000780646 RCV000805828 RCV000007256 CA013786 RCV002390094 |
487 | Y>H | Lethal congenital glycogen storage disease of heart Cardiomyopathy Hypertrophic cardiomyopathy 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007253 rs121908989 CA013797 VAR_013268 |
488 | N>I | Hypertrophic cardiomyopathy 6 CMH6; severe [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000792409 rs1584934953 |
489 | N>missing | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1805707497 RCV001190591 |
489 | N>S | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013810 rs730880981 RCV002515082 RCV000159016 |
491 | D>H | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001248475 CA055213 RCV001699159 RCV000208512 RCV002500669 rs186114650 RCV003165511 RCV000777947 |
492 | I>N | Lethal congenital glycogen storage disease of heart Cardiomyopathy Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002390772 RCV000866467 rs781741013 CA055257 RCV001524969 |
499 | Q>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1584934806 CA370070611 RCV000823373 |
500 | H>Y | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144077131 CA169165093 RCV001188219 RCV000812654 |
501 | R>H | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
CA013823 RCV001184475 RCV000154453 RCV002498739 RCV000805827 rs727504337 |
503 | Q>R | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA013833 RCV000007258 RCV000211740 rs267606978 RCV000159017 |
506 | E>Q | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707278 CA055310 rs370899599 |
510 | K>R | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA055338 RCV001755835 rs766113743 RCV000527257 RCV001178595 |
512 | N>I | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001524256 rs766113743 CA055321 RCV001346341 |
512 | N>S | Lethal congenital glycogen storage disease of heart Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060503024 CA16612200 RCV000461963 |
519 | T>A | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001191457 CA055365 rs767550594 |
521 | V>M | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA370070450 rs1563141020 RCV000695221 |
524 | I>R | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061341 rs1804721948 |
530 | H>D | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000159018 RCV000852579 RCV000813711 RCV000007257 rs267606977 CA013864 RCV002399313 |
530 | H>R | Lethal congenital glycogen storage disease of heart Hypertrophic cardiomyopathy 6 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_032909 RCV000007254 CA013874 RCV002399312 rs121908990 |
531 | R>G | Wolff-Parkinson-White syndrome, childhood-onset WPW; absence of cardiac hypertrophy; onset in childhood; impaired AMP- and ATP-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000038921 rs121908991 CA013893 RCV002255264 RCV000641181 |
531 | R>L | Lethal congenital glycogen storage disease of heart Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007255 rs121908991 RCV000159019 CA013883 VAR_013269 RCV000038920 |
531 | R>Q | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA055542 rs121908990 RCV001221470 |
531 | R>W | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1804709862 RCV001191055 |
539 | D>N | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1804709282 RCV001191718 |
540 | S>G | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA370070340 rs1381567996 RCV001182827 |
541 | I>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001213544 rs1804703888 |
544 | I>T | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563131309 RCV000687370 CA370070296 |
548 | S>L | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267606979 RCV000007259 CA013927 RCV001065774 |
548 | S>P | Lethal congenital glycogen storage disease of heart Hypertrophic cardiomyopathy 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267606979 RCV001210297 |
548 | S>T | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinVar dbSNP |
|
CA055698 rs752198913 RCV001298365 |
550 | I>L | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA370070273 rs1335765564 RCV000704777 RCV001555555 |
552 | Q>R | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1563131128 CA370070259 RCV000694290 |
555 | I>F | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1804693201 RCV001188204 |
559 | A>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622391 rs61744760 RCV001375651 CA056193 RCV001248718 |
561 | A>P | Lethal congenital glycogen storage disease of heart Primary familial hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000845392 RCV000470168 RCV000038926 CA013973 rs397517267 |
563 | Q>* | Lethal congenital glycogen storage disease of heart Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001177222 rs1803937738 |
563 | Q>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223882 RCV001189153 RCV000686461 CA013983 rs540525001 RCV002399577 RCV000766639 |
568 | T>M | Lethal congenital glycogen storage disease of heart Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001183875 rs1803935878 |
569 | E>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303314 CA014005 RCV000159022 rs730880983 |
569 | E>K | Lethal congenital glycogen storage disease of heart [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA370070159 RCV001189102 rs730880983 |
569 | E>Q | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs776891994 CA058678 |
3 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA058923 rs771101951 |
3 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 4 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs3207363 CA169183688 VAR_048250 |
6 | M>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA370072047 rs1234592923 |
6 | M>T | No |
ClinGen gnomAD |
|
|
rs892103159 CA169183685 |
8 | T>N | No |
ClinGen Ensembl |
|
|
rs574029693 CA370072025 |
9 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370071982 rs1306017686 |
15 | S>F | No |
ClinGen Ensembl |
|
|
rs1444086983 CA370071981 RCV000788391 |
16 | S>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA370071978 rs1173304123 |
16 | S>N | No |
ClinGen gnomAD |
|
|
CA370071977 rs1173304123 |
16 | S>T | No |
ClinGen gnomAD |
|
|
rs1282017092 CA370071967 |
18 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs116605521 CA370071953 |
20 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs730880986 RCV000159029 |
21 | G>missing | No |
ClinVar dbSNP |
|
|
rs1263689543 CA370071949 |
21 | G>S | No |
ClinGen gnomAD |
|
|
rs867457021 CA169183653 |
26 | A>V | No |
ClinGen Ensembl |
|
|
rs1164114205 CA370071898 |
28 | Q>R | No |
ClinGen TOPMed |
|
|
rs1338205156 CA370071884 |
30 | R>K | No |
ClinGen gnomAD |
|
|
rs1338205156 CA370071882 |
30 | R>M | No |
ClinGen gnomAD |
|
|
CA058729 rs751957422 |
31 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1057524591 RCV000420397 CA16605765 |
31 | R>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751957422 CA169183635 |
31 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1341496310 CA370071871 |
32 | S>L | No |
ClinGen gnomAD |
|
|
rs1318843859 CA370071863 |
34 | R>C | No |
ClinGen TOPMed |
|
|
CA169183616 rs755301694 |
34 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778222674 CA053140 |
35 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA053383 rs753210415 |
36 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA054388 rs746302449 |
41 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs768916930 CA169174518 |
42 | S>F | No |
ClinGen TOPMed |
|
|
CA370070085 rs144857453 |
44 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA054838 rs181839504 |
45 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs181839504 CA370070080 |
45 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752879744 CA054824 |
45 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA055280 rs751145176 |
51 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA370070040 rs1456914798 |
52 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370070001 rs1289539756 |
58 | H>R | No |
ClinGen gnomAD |
|
|
rs775125548 CA056250 |
60 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs564358410 COSM1087461 CA169174453 |
61 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1288414866 CA370069956 |
63 | V>M | No |
ClinGen gnomAD |
|
|
rs1277869522 CA370069937 |
65 | S>I | No |
ClinGen gnomAD |
|
|
rs1283611519 CA370069928 |
67 | F>L | No |
ClinGen gnomAD |
|
|
rs182750960 CA370069912 |
69 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs971300661 CA169172046 |
69 | P>S | No |
ClinGen TOPMed |
|
|
CA056482 rs528182738 |
70 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370069903 rs1416593413 |
71 | S>N | No |
ClinGen gnomAD |
|
|
rs1430606754 CA370069893 |
72 | P>L | No |
ClinGen gnomAD |
|
|
rs199963585 CA370069875 |
75 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA056516 rs199963585 |
75 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370069872 rs1586488591 |
76 | F>V | No |
ClinGen Ensembl |
|
|
CA169172031 rs991141184 |
78 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA169172029 rs549199481 |
79 | R>K | No |
ClinGen 1000Genomes |
|
|
rs1289938001 CA370069841 |
81 | P>T | No |
ClinGen TOPMed |
|
|
CA169172025 rs974063696 |
82 | Q>E | No |
ClinGen Ensembl |
|
|
rs1182448951 CA370069830 |
82 | Q>H | No |
ClinGen gnomAD |
|
|
CA056611 rs753496711 |
85 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA370069819 rs754570613 |
85 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA056601 rs754570613 |
85 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA370069800 rs1300640443 |
88 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1300640443 CA370069802 |
88 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370069781 rs1449571316 |
91 | A>T | No |
ClinGen gnomAD |
|
|
rs1426170956 CA370069742 |
97 | T>A | No |
ClinGen gnomAD |
|
|
rs1426170956 CA370069743 |
97 | T>P | No |
ClinGen gnomAD |
|
|
CA056667 rs773748344 |
99 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA370069706 rs1243712572 |
103 | K>E | No |
ClinGen gnomAD |
|
|
CA056710 rs564137307 |
104 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA169172000 rs564137307 |
104 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA169171992 rs750721831 |
105 | V>G | No |
ClinGen Ensembl |
|
|
rs1382836362 CA370069666 |
109 | S>F | No |
ClinGen gnomAD |
|
|
rs778331706 CA056788 |
111 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402915353 CA370069635 |
114 | P>S | No |
ClinGen gnomAD |
|
|
CA370069632 rs1366990290 |
115 | P>A | No |
ClinGen gnomAD |
|
|
CA370069615 rs1554596200 |
118 | P>A | No |
ClinGen Ensembl |
|
|
CA370069602 rs1177945294 |
119 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370069588 rs775756069 |
120 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772828022 CA056925 |
121 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA056905 rs760511236 |
121 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs771861941 CA056936 |
122 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1359553046 CA370069533 |
124 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA056967 rs748790230 |
130 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 135 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370069378 rs1162521549 |
137 | N>H | No |
ClinGen gnomAD |
|
|
CA370069371 RCV000657859 rs869025498 |
137 | N>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA169171941 rs1042047141 |
139 | N>S | No |
ClinGen Ensembl |
|
|
rs763092113 CA057088 |
146 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201142934 CA370069230 |
149 | F>L | No |
ClinGen gnomAD |
|
|
rs1462809883 CA370069191 |
151 | S>F | No |
ClinGen TOPMed |
|
|
rs759612926 CA057124 |
153 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA169447547 rs982598905 |
156 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370188468 rs727504512 |
158 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA057377 rs779526669 |
162 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA057402 rs753986944 |
165 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA370188310 rs1380074442 |
166 | P>S | No |
ClinGen TOPMed |
|
|
CA370188240 rs1332470374 |
170 | T>A | No |
ClinGen gnomAD |
|
|
CA014281 rs148056866 RCV000158989 |
174 | T>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA014299 RCV000158997 rs730880973 |
176 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1216586150 CA370188029 |
179 | S>C | No |
ClinGen gnomAD |
|
|
CA057455 rs775264059 |
180 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1131692281 CA370187930 |
183 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA169447541 rs545533727 |
184 | P>T | No |
ClinGen Ensembl |
|
|
rs748586783 CA057529 |
189 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs202200501 CA169447538 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
RCV000158999 rs551795395 CA014360 |
190 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1430348747 CA370187731 |
191 | I>N | No |
ClinGen gnomAD |
|
|
rs528201736 CA057544 |
191 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA057552 rs146578426 |
192 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA057575 rs750592417 |
195 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA370187640 rs1585680609 |
196 | S>P | No |
ClinGen Ensembl |
|
|
rs368637364 CA370187622 |
197 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368637364 CA057595 |
197 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs397517275 | 199 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305465396 CA370187581 |
199 | D>Y | No |
ClinGen gnomAD |
|
|
rs148952775 CA169447537 CA370187525 |
201 | G>R | No |
ClinGen ESP TOPMed |
|
|
rs148952775 CA169447536 |
201 | G>W | No |
ClinGen ESP TOPMed |
|
|
CA370187481 rs1214686289 |
203 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000223831 rs876661382 CA10581152 |
204 | F>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1327014023 CA370187425 |
205 | C>R | No |
ClinGen TOPMed |
|
|
rs1454988182 CA370187268 |
209 | F>L | No |
ClinGen gnomAD |
|
|
rs749753053 CA057730 |
212 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370187165 rs1356539220 |
212 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 214 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757556996 CA057769 |
214 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA370187101 rs982547906 |
216 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA169447535 rs982547906 |
216 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370187074 rs1483145394 |
217 | L>P | No |
ClinGen TOPMed |
|
|
CA370186935 rs1289045435 |
222 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370186866 rs1384251976 |
223 | Y>C | No |
ClinGen gnomAD |
|
|
rs753806205 CA057803 |
224 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs939188161 CA169447533 |
225 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| rs151108625 | 228 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375922839 CA370186631 |
228 | A>V | No |
ClinGen gnomAD |
|
|
CA370071366 rs1403807949 |
232 | A>S | No |
ClinGen gnomAD |
|
|
CA370071315 rs1443389660 |
237 | P>S | No |
ClinGen gnomAD |
|
|
rs918000213 CA169171325 |
239 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA058140 rs757988698 |
240 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765544988 CA370071266 |
241 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA014526 RCV000038956 rs397517280 |
241 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA370071268 rs765544988 |
241 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA058156 rs765544988 |
241 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1380551720 CA370071248 |
242 | M>I | No |
ClinGen gnomAD |
|
|
rs1289637017 CA370071256 |
242 | M>L | No |
ClinGen TOPMed |
|
|
CA169171324 rs1056508937 |
245 | K>R | No |
ClinGen TOPMed |
|
|
CA370071186 rs397517281 |
247 | E>K | No |
ClinGen TOPMed |
|
|
COSM4164203 CA169171323 rs796699703 |
251 | E>K | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs754530402 CA058408 |
253 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA058431 RCV000658035 rs756526745 |
262 | M>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs780245153 CA169162722 |
262 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA058422 rs780245153 |
262 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs368244224 CA058437 |
263 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA169162712 rs910493614 |
268 | H>Y | No |
ClinGen TOPMed |
|
|
rs727504618 CA058457 |
269 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285593393 CA370069370 |
270 | C>Y | No |
ClinGen TOPMed |
|
|
CA370069317 RCV000590399 rs764244463 |
273 | I>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1301217852 CA370069327 |
273 | I>V | No |
ClinGen gnomAD |
|
|
rs917493455 CA169162693 |
274 | V>I | No |
ClinGen gnomAD |
|
|
RCV000156892 rs727505340 CA014556 |
276 | T>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1417049573 CA370069231 |
281 | V>I | No |
ClinGen gnomAD |
|
|
CA370069129 rs1222402561 |
288 | Q>P | No |
ClinGen TOPMed |
|
|
CA169167827 rs989868638 |
292 | A>D | No |
ClinGen TOPMed |
|
|
rs1554465580 CA658822617 RCV000658187 |
293 | F>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs752107803 CA058628 |
297 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA058654 rs764040041 |
299 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370072452 rs1234095023 |
301 | V>A | No |
ClinGen gnomAD |
|
|
rs121908987 CA058687 |
302 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs765535197 CA058694 |
304 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA058719 rs767304528 |
305 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1019507853 CA169167816 |
310 | K>E | No |
ClinGen Ensembl |
|
|
CA169167815 rs890773505 |
312 | Q>* | No |
ClinGen TOPMed |
|
|
rs774372457 CA058756 |
312 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA058763 rs768031903 |
313 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs767255175 CA058863 |
316 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA370072338 rs1163451844 |
317 | M>I | No |
ClinGen gnomAD |
|
|
rs761721191 CA058873 |
321 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA014692 rs397517283 |
323 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769428744 CA052886 |
335 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA370072122 rs1400509091 |
347 | E>K | No |
ClinGen gnomAD |
|
|
CA370072097 rs1330644534 |
350 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370071726 rs1421384361 |
365 | S>T | No |
ClinGen TOPMed |
|
|
rs1436308773 CA370071714 |
367 | D>N | No |
ClinGen gnomAD |
|
|
CA053682 rs760826751 |
372 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370071669 rs1372410098 |
372 | D>V | No |
ClinGen gnomAD |
|
|
RCV000159010 rs730880979 CA013591 |
374 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 376 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 378 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA013647 RCV000038909 rs397517262 |
384 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM1239938 rs778811623 CA054308 |
387 | V>I | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 391 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs975054004 CA169166211 |
391 | I>V | No |
ClinGen TOPMed |
|
|
CA169166209 rs967214143 |
395 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10576721 RCV000216345 rs876657962 |
404 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 404 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 405 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA054630 rs373919593 |
419 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370071193 rs1390130736 |
423 | Q>R | No |
ClinGen gnomAD |
|
|
rs1167200476 CA370071185 |
424 | N>H | No |
ClinGen gnomAD |
|
|
rs1022332865 CA169165540 |
426 | D>H | No |
ClinGen Ensembl |
|
|
CA054669 rs760879406 |
432 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226175543 CA370071016 |
442 | D>G | No |
ClinGen gnomAD |
|
|
CA370070999 rs1344209675 |
445 | I>V | No |
ClinGen gnomAD |
|
|
rs770394466 CA054833 |
450 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA054857 rs777389152 |
451 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746586579 CA054847 |
451 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 452 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370070949 rs1414884410 |
452 | F>S | No |
ClinGen gnomAD |
|
|
rs757930384 CA054866 |
453 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779098740 CA370070927 |
456 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 459 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472383441 CA370070872 |
465 | E>A | No |
ClinGen gnomAD |
|
|
rs756252375 CA370070870 |
465 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 468 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 469 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370070779 rs1264251788 |
477 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 479 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 481 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370070715 rs1159205795 |
484 | E>V | No |
ClinGen TOPMed |
|
|
rs121908989 CA370070686 |
488 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 489 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 495 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570023767 CA055246 |
497 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA169165094 rs1038864554 COSM3703172 |
501 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs549954646 CA055293 |
509 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1343146854 CA370070492 |
518 | E>* | No |
ClinGen TOPMed |
|
|
CA055374 rs199985555 |
522 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA055381 rs773846910 |
525 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA370070407 rs1485981791 |
529 | V>D | No |
ClinGen TOPMed |
|
|
CA055558 rs201542789 |
533 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA055563 rs200300797 |
534 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs200300797 CA055569 |
534 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA055591 rs79091144 |
535 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs772133977 CA055607 |
536 | N>K | No |
ClinGen ExAC |
|
|
CA055618 rs748284788 |
537 | E>* | No |
ClinGen ExAC TOPMed |
|
|
CA370070370 rs748284788 |
537 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA055627 rs778975764 |
538 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1418088450 CA370070347 |
540 | S>N | No |
ClinGen gnomAD |
|
|
rs757047965 CA055670 |
542 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA055662 rs780989199 |
542 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA370070306 rs1584912413 |
546 | S>F | No |
ClinGen Ensembl |
|
|
rs730880982 RCV002390385 CA013949 RCV000159021 |
549 | D>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 552 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA055727 rs759190519 |
554 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs750042984 CA056173 |
560 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750042984 CA370070212 |
560 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000621355 CA056179 rs61744760 |
561 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA370070199 rs397517267 |
563 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763331532 CA056206 |
565 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000413762 CA056216 rs763331532 |
565 | E>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
3 associated diseases with Q9UGJ0
[MIM: 194200]: Wolff-Parkinson-White syndrome (WPWS)
A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. {ECO:0000269|PubMed:11407343, ECO:0000269|PubMed:11748095, ECO:0000269|PubMed:14722619}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 600858]: Cardiomyopathy, familial hypertrophic 6 (CMH6)
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes. {ECO:0000269|PubMed:11371514, ECO:0000269|PubMed:11827995}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 261740]: Glycogen storage disease of heart lethal congenital (GSDH)
Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise. {ECO:0000269|PubMed:15877279}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. {ECO:0000269|PubMed:11407343, ECO:0000269|PubMed:11748095, ECO:0000269|PubMed:14722619}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes. {ECO:0000269|PubMed:11371514, ECO:0000269|PubMed:11827995}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise. {ECO:0000269|PubMed:15877279}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9UGJ0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CBS domain | 275 - 335 | IPR000644-1 |
| domain | CBS domain | 357 - 415 | IPR000644-2 |
| domain | CBS domain | 430 - 492 | IPR000644-3 |
| domain | CBS domain | 504 - 562 | IPR000644-4 |
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. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleotide-activated protein kinase complex | A protein complex that possesses nucleotide-dependent protein kinase activity. The nucleotide can be AMP (in S. pombe and human) or ADP (in S. cerevisiae). |
| 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. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ADP binding | Binding to ADP, adenosine 5'-diphosphate. |
| AMP binding | Binding to AMP, adenosine monophosphate. |
| AMP-activated protein kinase activity | Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. This reaction requires the presence of AMP. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cAMP-dependent protein kinase inhibitor activity | Binds to and stops, prevents or reduces the activity of a cAMP-dependent protein kinase. |
| cAMP-dependent protein kinase regulator activity | Modulation of the activity of the enzyme cAMP-dependent protein kinase. |
| phosphorylase kinase regulator activity | Modulation of the activity of the enzyme phosphorylase kinase. |
| protein kinase activator activity | Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein kinase regulator activity | Modulates the activity of a protein kinase, an enzyme which phosphorylates a protein. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| ATP biosynthetic process | The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cellular response to glucose starvation | 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 deprivation of glucose. |
| fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| glycogen metabolic process | The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of protein kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
| positive regulation of peptidyl-threonine phosphorylation | Any process that increases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of protein kinase activity | Any process that activates or increases the frequency, rate or extent of protein kinase activity. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of catalytic activity | Any process that modulates the activity of an enzyme. |
| regulation of fatty acid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. |
| regulation of fatty acid oxidation | Any process that modulates the frequency, rate or extent of fatty acid oxidation. |
| regulation of glucose import | Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. |
| regulation of glycolytic process | Any process that modulates the frequency, rate or extent of glycolysis. |
| sterol biosynthetic process | The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSAVMDTKK | KKDVSSPGGS | GGKKNASQKR | RSLRVHIPDL | SSFAMPLLDG | DLEGSGKHSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKVDSPFGPG | SPSKGFFSRG | PQPRPSSPMS | APVRPKTSPG | SPKTVFPFSY | QESPPRSPRR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MSFSGIFRSS | SKESSPNSNP | ATSPGGIRFF | SRSRKTSGLS | SSPSTPTQVT | KQHTFPLESY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KHEPERLENR | IYASSSPPDT | GQRFCPSSFQ | SPTRPPLASP | THYAPSKAAA | LAAALGPAEA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GMLEKLEFED | EAVEDSESGV | YMRFMRSHKC | YDIVPTSSKL | VVFDTTLQVK | KAFFALVANG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VRAAPLWESK | KQSFVGMLTI | TDFINILHRY | YKSPMVQIYE | LEEHKIETWR | ELYLQETFKP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVNISPDASL | FDAVYSLIKN | KIHRLPVIDP | ISGNALYILT | HKRILKFLQL | FMSDMPKPAF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MKQNLDELGI | GTYHNIAFIH | PDTPIIKALN | IFVERRISAL | PVVDESGKVV | DIYSKFDVIN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LAAEKTYNNL | DITVTQALQH | RSQYFEGVVK | CNKLEILETI | VDRIVRAEVH | RLVVVNEADS |
| 550 | 560 | ||||
| IVGIISLSDI | LQALILTPAG | AKQKETETE |