ClinVar for Gene (Select 523) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148969	NM_001690.4(ATP6V1A):c.1720A>G (p.Met574Val)	ATP6V1A (M574V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GUncertain significance
Select item 3131888	NM_001690.4(ATP6V1A):c.476A>G (p.Asn159Ser)	ATP6V1A (N159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131887	NM_001690.4(ATP6V1A):c.428T>A (p.Val143Asp)	ATP6V1A (V143D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031752	NM_001690.4(ATP6V1A):c.396_397insC (p.Trp133fs)	ATP6V1A (W133fs)	Insertion (frameshift variant)	ATP6V1A-related condition	GUncertain significance
Select item 3026166	NM_001690.4(ATP6V1A):c.458A>G (p.Tyr153Cys)	ATP6V1A (Y153C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024007	NM_001690.4(ATP6V1A):c.1712G>A (p.Arg571His)	ATP6V1A (R571H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011975	NM_001690.4(ATP6V1A):c.716+18C>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008600	NM_001690.4(ATP6V1A):c.413G>A (p.Cys138Tyr)	ATP6V1A (C138Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008595	NM_001690.4(ATP6V1A):c.989-3T>C	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3007401	NM_001690.4(ATP6V1A):c.865C>T (p.Arg289Trp)	ATP6V1A (R289W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005936	NM_001690.4(ATP6V1A):c.182T>C (p.Met61Thr)	ATP6V1A (M61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005357	NM_001690.4(ATP6V1A):c.30C>T (p.Leu10=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004116	NM_001690.4(ATP6V1A):c.605A>G (p.Lys202Arg)	ATP6V1A (K202R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002643	NM_001690.4(ATP6V1A):c.1025A>G (p.Tyr342Cys)	ATP6V1A (Y342C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000136	NM_001690.4(ATP6V1A):c.1495-15C>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990180	NM_001690.4(ATP6V1A):c.82+8_82+10dup	ATP6V1A	Duplication (intron variant)	not provided	GLikely benign
Select item 2989536	NM_001690.4(ATP6V1A):c.907G>C (p.Glu303Gln)	ATP6V1A (E303Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988770	NM_001690.4(ATP6V1A):c.223G>T (p.Val75Phe)	ATP6V1A (V75F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988614	NM_001690.4(ATP6V1A):c.255C>T (p.Pro85=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2988234	NM_001690.4(ATP6V1A):c.279C>T (p.Gly93=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984077	NM_001690.4(ATP6V1A):c.474G>C (p.Glu158Asp)	ATP6V1A (E158D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983757	NM_001690.4(ATP6V1A):c.565-3T>C	ATP6V1A	Single nucleotide variant (intron variant)	ATP6V1A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2976717	NM_001690.4(ATP6V1A):c.1633A>G (p.Ile545Val)	ATP6V1A (I545V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975117	NM_001690.4(ATP6V1A):c.1194T>C (p.Pro398=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974783	NM_001690.4(ATP6V1A):c.1291-13T>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974365	NM_001690.4(ATP6V1A):c.1617G>T (p.Gly539=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972065	NM_001690.4(ATP6V1A):c.83-6C>A	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971732	NM_001690.4(ATP6V1A):c.1731C>T (p.Ile577=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971709	NM_001690.4(ATP6V1A):c.1291-15G>T	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971083	NM_001690.4(ATP6V1A):c.792C>T (p.Ser264=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969749	NM_001690.4(ATP6V1A):c.280A>C (p.Ile94Leu)	ATP6V1A (I94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968057	NM_001690.4(ATP6V1A):c.104C>T (p.Ala35Val)	ATP6V1A (A35V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967580	NM_001690.4(ATP6V1A):c.546T>C (p.Pro182=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966911	NM_001690.4(ATP6V1A):c.1568A>G (p.Asn523Ser)	ATP6V1A (N523S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963147	NM_001690.4(ATP6V1A):c.1560A>G (p.Leu520=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960579	NM_001690.4(ATP6V1A):c.427-12A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959444	NM_001690.4(ATP6V1A):c.126G>A (p.Leu42=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2959314	NM_001690.4(ATP6V1A):c.1376G>A (p.Arg459His)	ATP6V1A (R459H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958968	NM_001690.4(ATP6V1A):c.1402C>T (p.His468Tyr)	ATP6V1A (H468Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956837	NM_001690.4(ATP6V1A):c.1227-17del	ATP6V1A	Deletion (intron variant)	not provided	GBenign
Select item 2955187	NM_001690.4(ATP6V1A):c.512G>A (p.Arg171Gln)	ATP6V1A (R171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905719	NM_001690.4(ATP6V1A):c.100A>G (p.Met34Val)	ATP6V1A (M34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897850	NM_001690.4(ATP6V1A):c.141C>T (p.His47=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894289	NM_001690.4(ATP6V1A):c.584A>G (p.Glu195Gly)	ATP6V1A (E195G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893975	NM_001690.4(ATP6V1A):c.1227-8A>T	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892003	NM_001690.4(ATP6V1A):c.981T>C (p.Ile327=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889055	NM_001690.4(ATP6V1A):c.429T>G (p.Val143=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880447	NM_001690.4(ATP6V1A):c.1291-14_1291-13insG	ATP6V1A	Insertion (intron variant)	not provided	GLikely benign
Select item 2873567	NM_001690.4(ATP6V1A):c.296T>C (p.Phe99Ser)	ATP6V1A (F99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868811	NM_001690.4(ATP6V1A):c.1545C>A (p.Ile515=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858585	NM_001690.4(ATP6V1A):c.260_261del (p.Ser87fs)	ATP6V1A (S87fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2858574	NM_001690.4(ATP6V1A):c.1116T>C (p.Ser372=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855690	NM_001690.4(ATP6V1A):c.676C>T (p.Pro226Ser)	ATP6V1A (P226S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854272	NM_001690.4(ATP6V1A):c.403T>C (p.Phe135Leu)	ATP6V1A (F135L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838263	NM_001690.4(ATP6V1A):c.880-6C>T	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837397	NM_001690.4(ATP6V1A):c.988+9A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833781	NM_001690.4(ATP6V1A):c.211+15T>C	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832930	NM_001690.4(ATP6V1A):c.1290+6T>C	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2828778	NM_001690.4(ATP6V1A):c.880-17A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818752	NM_001690.4(ATP6V1A):c.1708A>C (p.Ile570Leu)	ATP6V1A (I570L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818601	NM_001690.4(ATP6V1A):c.1258C>T (p.Pro420Ser)	ATP6V1A (P420S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816550	NM_001690.4(ATP6V1A):c.1732C>T (p.Leu578Phe)	ATP6V1A (L578F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813423	NM_001690.4(ATP6V1A):c.1618A>T (p.Met540Leu)	ATP6V1A (M540L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806337	NM_001690.4(ATP6V1A):c.551A>C (p.Asn184Thr)	ATP6V1A (N184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792997	NM_001690.4(ATP6V1A):c.989-15T>A	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786534	NM_001690.4(ATP6V1A):c.780A>G (p.Ser260=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786135	NM_001690.4(ATP6V1A):c.1809A>G (p.Gln603=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785740	NM_001690.4(ATP6V1A):c.1572A>T (p.Gly524=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781278	NM_001690.4(ATP6V1A):c.395A>G (p.Lys132Arg)	ATP6V1A (K132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778146	NM_001690.4(ATP6V1A):c.880-13A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769117	NM_001690.4(ATP6V1A):c.1747T>C (p.Ser583Pro)	ATP6V1A (S583P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768763	NM_001690.4(ATP6V1A):c.1495-14T>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768732	NM_001690.4(ATP6V1A):c.1616G>A (p.Gly539Glu)	ATP6V1A (G539E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767241	NM_001690.4(ATP6V1A):c.1603T>C (p.Tyr535His)	ATP6V1A (Y535H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762869	NM_001690.4(ATP6V1A):c.69G>A (p.Gly23=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756610	NM_001690.4(ATP6V1A):c.789A>G (p.Leu263=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748325	NM_001690.4(ATP6V1A):c.701T>G (p.Leu234Arg)	ATP6V1A (L234R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747802	NM_001690.4(ATP6V1A):c.717-5T>C	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746930	NM_001690.4(ATP6V1A):c.1782G>A (p.Glu594=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713513	NM_001690.4(ATP6V1A):c.369C>T (p.Asn123=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713236	NM_001690.4(ATP6V1A):c.1769T>A (p.Leu590Gln)	ATP6V1A (L590Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706946	NM_001690.4(ATP6V1A):c.1166C>T (p.Ala389Val)	ATP6V1A (A389V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706498	NM_001690.4(ATP6V1A):c.1744del (p.Ser582fs)	ATP6V1A (S582fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2699033	NM_001690.4(ATP6V1A):c.1546A>G (p.Lys516Glu)	ATP6V1A (K516E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695349	NM_001690.4(ATP6V1A):c.1111+18T>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688650	NM_001690.4(ATP6V1A):c.671ATC[1] (p.His225del)	ATP6V1A (H225del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2662166	NM_001690.4(ATP6V1A):c.1745C>G (p.Ser582Cys)	ATP6V1A (S582C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654051	NM_001690.4(ATP6V1A):c.1417G>A (p.Val473Ile)	ATP6V1A (V473I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654050	NM_001690.4(ATP6V1A):c.327C>T (p.Ile109=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2654049	NM_001690.4(ATP6V1A):c.320C>T (p.Ser107Leu)	ATP6V1A (S107L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634420	NM_001690.4(ATP6V1A):c.866G>A (p.Arg289Gln)	ATP6V1A (R289Q)	Single nucleotide variant (missense variant)	ATP6V1A-related condition	GUncertain significance
Select item 2630679	NM_001690.4(ATP6V1A):c.284T>C (p.Met95Thr)	ATP6V1A (M95T)	Single nucleotide variant (missense variant)	ATP6V1A-related condition	GUncertain significance
Select item 2627987	NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)	ATP6V1A (D100V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3 +1 more	GLikely pathogenic
Select item 2618416	NM_001690.4(ATP6V1A):c.356C>T (p.Pro119Leu)	ATP6V1A (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585058	NM_001690.4(ATP6V1A):c.1660G>A (p.Ala554Thr)	ATP6V1A (A554T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GUncertain significance
Select item 2582174	NM_001690.4(ATP6V1A):c.594del (p.Gly198_Val199insTer)	ATP6V1A	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2581859	NM_001690.4(ATP6V1A):c.56G>C (p.Gly19Ala)	ATP6V1A (G19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2576576	NM_001690.4(ATP6V1A):c.548G>C (p.Gly183Ala)	ATP6V1A (G183A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GUncertain significance

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