All transcript variants in gene ATP6V0A2

Information The variants shown are described using the NM_012463.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-4906T>C r.(?) p.(=) - likely benign g.124192207T>C g.123707660T>C TCTN2(NM_024809.4):c.2041T>C (p.L681=) - TCTN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-14C>T r.(?) p.(=) - benign g.124197099C>T g.123712552C>T ATP6V0A2(NM_012463.3):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-14C>T r.(?) p.(=) - benign g.124197099C>T g.123712552C>T ATP6V0A2(NM_012463.3):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-14C>T r.(?) p.(=) - benign g.124197099C>T g.123712552C>T ATP6V0A2(NM_012463.3):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2T>C r.(?) p.(Met1?) - likely pathogenic g.124197114T>C g.123712567T>C - - ATP6V0A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 1 c.3G>C r.(?) p.(Met1?) - pathogenic g.124197115G>C g.123712568G>C - - ATP6V0A2_000049 - - - - Germline yes - - 0 - Carmela Fusco
?/. - c.26C>T r.(?) p.(Thr9Ile) - VUS g.124197138C>T g.123712591C>T ATP6V0A2(NM_012463.3):c.26C>T (p.T9I) - ATP6V0A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.117+14G>A r.(=) p.(=) - benign g.124197243G>A g.123712696G>A ATP6V0A2(NM_012463.3):c.117+14G>A - ATP6V0A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.230T>G r.(?) p.(Ile77Ser) - VUS g.124206931T>G g.123722384T>G ATP6V0A2(NM_012463.3):c.230T>G (p.(Ile77Ser)) - ATP6V0A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.380A>T r.(?) p.(Glu127Val) - VUS g.124209286A>T g.123724739A>T ATP6V0A2(NM_012463.3):c.380A>T (p.E127V) - ATP6V0A2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.422G>T r.(?) p.(Arg141Leu) - likely benign g.124209328G>T g.123724781G>T ATP6V0A2(NM_012463.3):c.422G>T (p.R141L) - ATP6V0A2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.422G>T r.(?) p.(Arg141Leu) - likely benign g.124209328G>T g.123724781G>T ATP6V0A2(NM_012463.3):c.422G>T (p.R141L) - ATP6V0A2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.426T>C r.(?) p.(Asn142=) - benign g.124209332T>C g.123724785T>C ATP6V0A2(NM_012463.3):c.426T>C (p.N142=) - ATP6V0A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.426T>C r.(?) p.(Asn142=) - benign g.124209332T>C g.123724785T>C ATP6V0A2(NM_012463.3):c.426T>C (p.N142=) - ATP6V0A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.432+14C>T r.(=) p.(=) - benign g.124209352C>T g.123724805C>T ATP6V0A2(NM_012463.3):c.432+14C>T - ATP6V0A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.432+14C>T r.(=) p.(=) - benign g.124209352C>T g.123724805C>T ATP6V0A2(NM_012463.3):c.432+14C>T - ATP6V0A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.471T>C r.(?) p.(Ser157=) - benign g.124210782T>C g.123726235T>C ATP6V0A2(NM_012463.3):c.471T>C (p.S157=) - ATP6V0A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.471T>C r.(?) p.(Ser157=) - benign g.124210782T>C g.123726235T>C ATP6V0A2(NM_012463.3):c.471T>C (p.S157=) - ATP6V0A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.471T>C r.(?) p.(Ser157=) - benign g.124210782T>C g.123726235T>C ATP6V0A2(NM_012463.3):c.471T>C (p.S157=) - ATP6V0A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.614C>T r.(?) p.(Ala205Val) - likely benign g.124212422C>T g.123727875C>T ATP6V0A2(NM_012463.3):c.614C>T (p.A205V) - ATP6V0A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.658A>G r.(?) p.(Ile220Val) - likely benign g.124218482A>G g.123733935A>G ATP6V0A2(NM_012463.3):c.658A>G (p.(Ile220Val)) - ATP6V0A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.732-23T>C r.(=) p.(=) - benign g.124220055T>C g.123735508T>C ATP6V0A2(NM_012463.3):c.732-23T>C - ATP6V0A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.769G>A r.(?) p.(Glu257Lys) - likely benign g.124220115G>A g.123735568G>A ATP6V0A2(NM_012463.3):c.769G>A (p.E257K) - ATP6V0A2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.920C>G r.(?) p.(Ala307Gly) - VUS g.124221700C>G g.123737153C>G ATP6V0A2(NM_012463.3):c.920C>G (p.A307G) - ATP6V0A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1016G>A r.(?) p.(Arg339His) - benign g.124221796G>A g.123737249G>A ATP6V0A2(NM_012463.3):c.1016G>A (p.R339H, p.(Arg339His)) - ATP6V0A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1016G>A r.(?) p.(Arg339His) - likely benign g.124221796G>A g.123737249G>A ATP6V0A2(NM_012463.3):c.1016G>A (p.R339H, p.(Arg339His)) - ATP6V0A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1039-13G>T r.(=) p.(=) - benign g.124228319G>T g.123743772G>T ATP6V0A2(NM_012463.3):c.1039-13G>T - ATP6V0A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 10 c.1101dup r.(?) p.(Thr368Hisfs*65) - pathogenic g.124228394dup g.123743847dup - - ATP6V0A2_000050 - - - - Germline yes - - 0 - Carmela Fusco
?/. - c.1111C>T r.(?) p.(Arg371Cys) - VUS g.124228404C>T g.123743857C>T ATP6V0A2(NM_012463.3):c.1111C>T (p.R371C) - ATP6V0A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1121A>G r.(?) p.(Lys374Arg) - benign g.124228414A>G g.123743867A>G ATP6V0A2(NM_012463.3):c.1121A>G (p.K374R, p.(Lys374Arg)) - ATP6V0A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1121A>G r.(?) p.(Lys374Arg) - - g.124228414A>G - ATP6V0A2(NM_012463.3):c.1121A>G (p.K374R, p.(Lys374Arg)) - ATP6V0A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1179A>G r.(?) p.(Glu393=) - likely benign g.124228472A>G g.123743925A>G ATP6V0A2(NM_012463.3):c.1179A>G (p.E393=) - ATP6V0A2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1258G>T r.(?) p.(Val420Leu) - VUS g.124228816G>T g.123744269G>T ATP6V0A2(NM_012463.3):c.1258G>T (p.V420L, p.(Val420Leu)) - ATP6V0A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1258G>T r.(?) p.(Val420Leu) - likely benign g.124228816G>T g.123744269G>T ATP6V0A2(NM_012463.3):c.1258G>T (p.V420L, p.(Val420Leu)) - ATP6V0A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1486G>A r.(?) p.(Ala496Thr) - likely benign g.124229303G>A g.123744756G>A ATP6V0A2(NM_012463.3):c.1486G>A (p.A496T, p.(Ala496Thr)) - ATP6V0A2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1486G>A r.(?) p.(Ala496Thr) - likely benign g.124229303G>A g.123744756G>A ATP6V0A2(NM_012463.3):c.1486G>A (p.A496T, p.(Ala496Thr)) - ATP6V0A2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1495A>G r.(?) p.(Lys499Glu) - likely benign g.124229312A>G g.123744765A>G ATP6V0A2(NM_012463.3):c.1495A>G (p.(Lys499Glu)) - ATP6V0A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1514+2T>C r.spl? p.? - benign g.124229333T>C g.123744786T>C ATP6V0A2(NM_012463.3):c.1514+2T>C - ATP6V0A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1515-3_1515-2del r.spl? p.? - VUS g.124229426_124229427del g.123744879_123744880del ATP6V0A2(NM_012463.3):c.1515-4_1515-3del (p.?) - ATP6V0A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1515T>C r.(?) p.(Asn505=) - benign g.124229429T>C g.123744882T>C ATP6V0A2(NM_012463.3):c.1515T>C (p.N505=) - ATP6V0A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1515T>C r.(?) p.(Asn505=) - benign g.124229429T>C g.123744882T>C ATP6V0A2(NM_012463.3):c.1515T>C (p.N505=) - ATP6V0A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1524C>T r.(?) p.(Val508=) - likely benign g.124229438C>T g.123744891C>T ATP6V0A2(NM_012463.3):c.1524C>T (p.V508=) - ATP6V0A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1590C>T r.(?) p.(Pro530=) - likely benign g.124229504C>T g.123744957C>T ATP6V0A2(NM_012463.3):c.1590C>T (p.P530=) - ATP6V0A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1606-19T>C r.(=) p.(=) - likely benign g.124232135T>C g.123747588T>C ATP6V0A2(NM_012463.3):c.1606-19T>C - ATP6V0A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1606-12G>A r.(=) p.(=) - benign g.124232142G>A g.123747595G>A ATP6V0A2(NM_012463.3):c.1606-12G>A - ATP6V0A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1766C>T r.(?) p.(Pro589Leu) - VUS g.124233163C>T g.123748616C>T ATP6V0A2(NM_012463.3):c.1766C>T (p.P589L) - ATP6V0A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1941T>A r.(?) p.(Tyr647Ter) - VUS g.124235662T>A g.123751115T>A ATP6V0A2(NM_012463.3):c.1941T>A (p.(Tyr647Ter)) - ATP6V0A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1948A>G r.(?) p.(Arg650Gly) - VUS g.124235669A>G g.123751122A>G ATP6V0A2(NM_012463.3):c.1948A>G (p.(Arg650Gly)) - ATP6V0A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2055+8C>T r.(=) p.(=) - VUS g.124235784C>T g.123751237C>T ATP6V0A2(NM_012463.3):c.2055+8C>T (p.(=)) - ATP6V0A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2229T>C r.(?) p.(Cys743=) - likely benign g.124239020T>C g.123754473T>C ATP6V0A2(NM_012463.3):c.2229T>C (p.C743=) - ATP6V0A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2238C>T r.(?) p.(Cys746=) - likely benign g.124239029C>T g.123754482C>T ATP6V0A2(NM_012463.3):c.2238C>T (p.C746=) - ATP6V0A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2438C>T r.(?) p.(Ala813Val) - benign g.124241506C>T g.123756959C>T ATP6V0A2(NM_012463.3):c.2438C>T (p.A813V) - ATP6V0A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2438C>T r.(?) p.(Ala813Val) - benign g.124241506C>T g.123756959C>T ATP6V0A2(NM_012463.3):c.2438C>T (p.A813V) - ATP6V0A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2438C>T r.(?) p.(Ala813Val) - likely benign g.124241506C>T g.123756959C>T - - ATP6V0A2_000030 93 heterozygous; Clinindb (India) Faruq 2020, submtted - rs17883456 Germline - 93/2795 individuals - 0 - Mohammed Faruq
-?/. - c.2438C>T r.(?) p.(Ala813Val) - likely benign g.124241506C>T g.123756959C>T - - ATP6V0A2_000030 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs17883456 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-/. - c.2466-3del r.spl? p.? - benign g.124242471del g.123757924del ATP6V0A2(NM_012463.3):c.2466-3delT - ATP6V0A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2466-3dup r.spl? p.? - benign g.124242471dup g.123757924dup ATP6V0A2(NM_012463.3):c.2466-3dupT - ATP6V0A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2466-2A>T r.spl? p.? - benign g.124242472A>T g.123757925A>T ATP6V0A2(NM_012463.3):c.2466-2A>T (, p.?) - ATP6V0A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2466-2A>T r.spl? p.? - VUS g.124242472A>T g.123757925A>T ATP6V0A2(NM_012463.3):c.2466-2A>T (, p.?) - ATP6V0A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2466-2_2467del r.spl? p.? - likely benign g.124242472_124242475del g.123757925_123757928del ATP6V0A2(NM_012463.3):c.2466-2_2467del (p.?) - ATP6V0A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2466-1G>T r.spl? p.? - likely benign g.124242473G>T g.123757926G>T ATP6V0A2(NM_012463.3):c.2466-1G>T (p.?) - ATP6V0A2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2466G>T r.(?) p.(Trp822Cys) - likely benign g.124242474G>T g.123757927G>T ATP6V0A2(NM_012463.3):c.2466G>T (p.(Trp822Cys)) - ATP6V0A2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2467G>T r.(?) p.(Val823Leu) - likely benign g.124242475G>T g.123757928G>T ATP6V0A2(NM_012463.3):c.2467G>T (p.(Val823Leu)) - ATP6V0A2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2468_2469insTTTT r.(?) p.(Glu824PhefsTer29) - likely benign g.124242476_124242477insTTTT g.123757929_123757930insTTTT ATP6V0A2(NM_012463.3):c.2467_2468insTTTT (p.(Glu824PhefsTer29)) - ATP6V0A2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2549A>G r.(?) p.(Asn850Ser) - likely benign g.124242557A>G g.123758010A>G ATP6V0A2(NM_012463.3):c.2549A>G (p.N850S) - ATP6V0A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2549A>G r.(?) p.(Asn850Ser) - VUS g.124242557A>G g.123758010A>G - - ATP6V0A2_000033 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs75279884 Germline - 6/2793 individuals - 0 - Mohammed Faruq
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