All transcript variants in gene ATP6V0A2

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

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 likely benign r.(?) p.(=) g.124192207T>C - TCTN2(NM_024809.4):c.2041T>C (p.L681=) - TCTN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-14C>T benign r.(?) p.(=) g.124197099C>T - ATP6V0A2(NM_012463.3):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-14C>T benign r.(?) p.(=) g.124197099C>T - ATP6V0A2(NM_012463.3):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-14C>T benign r.(?) p.(=) g.124197099C>T - ATP6V0A2(NM_012463.3):c.-14C>T - ATP6V0A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2T>C likely pathogenic r.(?) p.? g.124197114T>C - - - ATP6V0A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.26C>T VUS r.(?) p.(Thr9Ile) g.124197138C>T - ATP6V0A2(NM_012463.3):c.26C>T (p.T9I) - ATP6V0A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.117+14G>A benign r.(=) p.(=) g.124197243G>A - ATP6V0A2(NM_012463.3):c.117+14G>A - ATP6V0A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.230T>G VUS r.(?) p.(Ile77Ser) g.124206931T>G - ATP6V0A2(NM_012463.3):c.230T>G (p.(Ile77Ser)) - ATP6V0A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.422G>T likely benign r.(?) p.(Arg141Leu) g.124209328G>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 likely benign r.(?) p.(Arg141Leu) g.124209328G>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 benign r.(?) p.(=) g.124209332T>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 benign r.(?) p.(=) g.124209332T>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 benign r.(=) p.(=) g.124209352C>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 benign r.(=) p.(=) g.124209352C>T - ATP6V0A2(NM_012463.3):c.432+14C>T - ATP6V0A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.471T>C benign r.(?) p.(=) g.124210782T>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 benign r.(?) p.(=) g.124210782T>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 benign r.(?) p.(=) g.124210782T>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 likely benign r.(?) p.(Ala205Val) g.124212422C>T - ATP6V0A2(NM_012463.3):c.614C>T (p.A205V) - ATP6V0A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.658A>G likely benign r.(?) p.(Ile220Val) g.124218482A>G - ATP6V0A2(NM_012463.3):c.658A>G (p.(Ile220Val)) - ATP6V0A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.732-23T>C benign r.(=) p.(=) g.124220055T>C - ATP6V0A2(NM_012463.3):c.732-23T>C - ATP6V0A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.920C>G VUS r.(?) p.(Ala307Gly) g.124221700C>G - ATP6V0A2(NM_012463.3):c.920C>G (p.A307G) - ATP6V0A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1016G>A benign r.(?) p.(Arg339His) g.124221796G>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 likely benign r.(?) p.(Arg339His) g.124221796G>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 benign r.(=) p.(=) g.124228319G>T - ATP6V0A2(NM_012463.3):c.1039-13G>T - ATP6V0A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1111C>T VUS r.(?) p.(Arg371Cys) g.124228404C>T - ATP6V0A2(NM_012463.3):c.1111C>T (p.R371C) - ATP6V0A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1121A>G benign r.(?) p.(Lys374Arg) g.124228414A>G - ATP6V0A2(NM_012463.3):c.1121A>G (p.K374R) - ATP6V0A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1179A>G likely benign r.(?) p.(=) g.124228472A>G - ATP6V0A2(NM_012463.3):c.1179A>G (p.E393=) - ATP6V0A2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1258G>T VUS r.(?) p.(Val420Leu) g.124228816G>T - ATP6V0A2(NM_012463.3):c.1258G>T (p.V420L) - ATP6V0A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1486G>A likely benign r.(?) p.(Ala496Thr) g.124229303G>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 likely benign r.(?) p.(Ala496Thr) g.124229303G>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 likely benign r.(?) p.(Lys499Glu) g.124229312A>G - ATP6V0A2(NM_012463.3):c.1495A>G (p.(Lys499Glu)) - ATP6V0A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1514+2T>C benign r.spl? p.? g.124229333T>C - ATP6V0A2(NM_012463.3):c.1514+2T>C - ATP6V0A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1515-3_1515-2del VUS r.spl? p.? g.124229426_124229427del - ATP6V0A2(NM_012463.3):c.1515-4_1515-3del (p.?) - ATP6V0A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1515T>C benign r.(?) p.(=) g.124229429T>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 benign r.(?) p.(=) g.124229429T>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 likely benign r.(?) p.(=) g.124229438C>T - ATP6V0A2(NM_012463.3):c.1524C>T (p.V508=) - ATP6V0A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1590C>T likely benign r.(?) p.(=) g.124229504C>T - ATP6V0A2(NM_012463.3):c.1590C>T (p.P530=) - ATP6V0A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1606-19T>C likely benign r.(=) p.(=) g.124232135T>C - ATP6V0A2(NM_012463.3):c.1606-19T>C - ATP6V0A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1606-12G>A benign r.(=) p.(=) g.124232142G>A - ATP6V0A2(NM_012463.3):c.1606-12G>A - ATP6V0A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1766C>T VUS r.(?) p.(Pro589Leu) g.124233163C>T - ATP6V0A2(NM_012463.3):c.1766C>T (p.P589L) - ATP6V0A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1941T>A VUS r.(?) p.(Tyr647*) g.124235662T>A - ATP6V0A2(NM_012463.3):c.1941T>A (p.(Tyr647Ter)) - ATP6V0A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1948A>G VUS r.(?) p.(Arg650Gly) g.124235669A>G - ATP6V0A2(NM_012463.3):c.1948A>G (p.(Arg650Gly)) - ATP6V0A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2055+8C>T VUS r.(=) p.(=) g.124235784C>T - ATP6V0A2(NM_012463.3):c.2055+8C>T (p.(=)) - ATP6V0A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2229T>C likely benign r.(?) p.(=) g.124239020T>C - ATP6V0A2(NM_012463.3):c.2229T>C (p.C743=) - ATP6V0A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2238C>T likely benign r.(?) p.(=) g.124239029C>T - ATP6V0A2(NM_012463.3):c.2238C>T (p.C746=) - ATP6V0A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2438C>T benign r.(?) p.(Ala813Val) g.124241506C>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 benign r.(?) p.(Ala813Val) g.124241506C>T - ATP6V0A2(NM_012463.3):c.2438C>T (p.A813V) - ATP6V0A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2466-3del benign r.spl? p.? g.124242471del - ATP6V0A2(NM_012463.3):c.2466-3delT - ATP6V0A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2466-3dup benign r.spl? p.? g.124242471dup - ATP6V0A2(NM_012463.3):c.2466-3dupT - ATP6V0A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2466-2A>T benign r.spl? p.? g.124242472A>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 VUS r.spl? p.? g.124242472A>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 likely benign r.spl? p.? g.124242472_124242475del - ATP6V0A2(NM_012463.3):c.2466-2_2467del (p.?) - ATP6V0A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2466-1G>T likely benign r.spl? p.? g.124242473G>T - ATP6V0A2(NM_012463.3):c.2466-1G>T (p.?) - ATP6V0A2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2466G>T likely benign r.(?) p.(Trp822Cys) g.124242474G>T - ATP6V0A2(NM_012463.3):c.2466G>T (p.(Trp822Cys)) - ATP6V0A2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2467G>T likely benign r.(?) p.(Val823Leu) g.124242475G>T - ATP6V0A2(NM_012463.3):c.2467G>T (p.(Val823Leu)) - ATP6V0A2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2468_2469insTTTT likely benign r.(?) p.(Glu824Phefs*29) g.124242476_124242477insTTTT - ATP6V0A2(NM_012463.3):c.2467_2468insTTTT (p.(Glu824PhefsTer29)) - ATP6V0A2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2549A>G likely benign r.(?) p.(Asn850Ser) g.124242557A>G - ATP6V0A2(NM_012463.3):c.2549A>G (p.N850S) - ATP6V0A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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