523[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 1183335	NM_001690.4(ATP6V1A):c.-13-202C>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268535	NM_001690.4(ATP6V1A):c.-13-81A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176783	NM_001690.4(ATP6V1A):c.29T>G (p.Leu10Arg)	ATP6V1A (L10R)	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 2429372	NM_001690.4(ATP6V1A):c.31G>T (p.Asp11Tyr)	ATP6V1A (D11Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GUncertain significance
Select item 2139656	NM_001690.4(ATP6V1A):c.31G>A (p.Asp11Asn)	ATP6V1A (D11N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013487	NM_001690.4(ATP6V1A):c.48C>T (p.Ser16=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2052568	NM_001690.4(ATP6V1A):c.65A>G (p.His22Arg)	ATP6V1A (H22R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 545526	NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg)	ATP6V1A (P27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2990180	NM_001690.4(ATP6V1A):c.82+8_82+10dup	ATP6V1A	Duplication (intron variant)	not provided	GLikely benign
Select item 1228236	NM_001690.4(ATP6V1A):c.83-164A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2972065	NM_001690.4(ATP6V1A):c.83-6C>A	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1013208	NM_001690.4(ATP6V1A):c.88A>G (p.Thr30Ala)	ATP6V1A (T30A)	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 2968057	NM_001690.4(ATP6V1A):c.104C>T (p.Ala35Val)	ATP6V1A (A35V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155191	NM_001690.4(ATP6V1A):c.105G>A (p.Ala35=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538555	NM_001690.4(ATP6V1A):c.117G>A (p.Met39Ile)	ATP6V1A (M39I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2959444	NM_001690.4(ATP6V1A):c.126G>A (p.Leu42=)	ATP6V1A	Single nucleotide variant (synonymous 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 1953001	NM_001690.4(ATP6V1A):c.145G>A (p.Glu49Lys)	ATP6V1A (E49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133793	NM_001690.4(ATP6V1A):c.157G>A (p.Glu53Lys)	ATP6V1A (E53K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592624	NM_001690.4(ATP6V1A):c.168A>G (p.Arg56=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1928655	NM_001690.4(ATP6V1A):c.183G>A (p.Met61Ile)	ATP6V1A (M61I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2127700	NM_001690.4(ATP6V1A):c.211+14C>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 1900328	NM_001690.4(ATP6V1A):c.212-13C>T	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2052346	NM_001690.4(ATP6V1A):c.212-10C>T	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 417773	NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp)	ATP6V1A (G72D)	Single nucleotide variant (missense variant)	Autosomal recessive cutis laxa type 2D	GPathogenic
Select item 1879586	NM_001690.4(ATP6V1A):c.217G>A (p.Val73Met)	ATP6V1A (V73M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118151	NM_001690.4(ATP6V1A):c.220T>G (p.Ser74Ala)	ATP6V1A (S74A)	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 1961431	NM_001690.4(ATP6V1A):c.234T>C (p.Pro78=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369357	NM_001690.4(ATP6V1A):c.247G>A (p.Gly83Ser)	ATP6V1A (G83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679669	NM_001690.4(ATP6V1A):c.248G>A (p.Gly83Asp)	ATP6V1A (G83D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GUncertain significance
Select item 1380552	NM_001690.4(ATP6V1A):c.253C>A (p.Pro85Thr)	ATP6V1A (P85T)	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 2858585	NM_001690.4(ATP6V1A):c.260_261del (p.Ser87fs)	ATP6V1A (S87fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1304578	NM_001690.4(ATP6V1A):c.258_265delinsGTTTATGCC (p.Ser87fs)	ATP6V1A (S87fs)	Indel (frameshift 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 2969749	NM_001690.4(ATP6V1A):c.280A>C (p.Ile94Leu)	ATP6V1A (I94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439387	NM_001690.4(ATP6V1A):c.280A>G (p.Ile94Val)	ATP6V1A (I94V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2630679	NM_001690.4(ATP6V1A):c.284T>C (p.Met95Thr)	ATP6V1A (M95T)	Single nucleotide variant (missense variant)	ATP6V1A-related disorder	GUncertain significance
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 545524	NM_001690.4(ATP6V1A):c.298G>T (p.Asp100Tyr)	ATP6V1A (D100Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GPathogenic
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 736751	NM_001690.4(ATP6V1A):c.318G>A (p.Leu106=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2185114	NM_001690.4(ATP6V1A):c.321G>A (p.Ser107=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654050	NM_001690.4(ATP6V1A):c.327C>T (p.Ile109=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2047567	NM_001690.4(ATP6V1A):c.338C>A (p.Thr113Asn)	ATP6V1A (T113N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044818	NM_001690.4(ATP6V1A):c.339C>T (p.Thr113=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1939226	NM_001690.4(ATP6V1A):c.354C>A (p.Ile118=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2713513	NM_001690.4(ATP6V1A):c.369C>T (p.Asn123=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995951	NM_001690.4(ATP6V1A):c.370G>A (p.Val124Met)	ATP6V1A (V124M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GLikely benign
Select item 2173169	NM_001690.4(ATP6V1A):c.372G>C (p.Val124=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416521	NM_001690.4(ATP6V1A):c.374C>G (p.Ser125Cys)	ATP6V1A (S125C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 3031752	NM_001690.4(ATP6V1A):c.396_397insC (p.Trp133fs)	ATP6V1A (W133fs)	Insertion (frameshift variant)	ATP6V1A-related disorder	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 2063907	NM_001690.4(ATP6V1A):c.410C>T (p.Pro137Leu)	ATP6V1A (P137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2159888	NM_001690.4(ATP6V1A):c.416A>G (p.Lys139Arg)	ATP6V1A (K139R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2069659	NM_001690.4(ATP6V1A):c.423A>G (p.Leu141=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191165	NM_001690.4(ATP6V1A):c.424C>T (p.Arg142Trp)	ATP6V1A (R142W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134253	NM_001690.4(ATP6V1A):c.426+3A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1989014	NM_001690.4(ATP6V1A):c.426+18A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277309	NM_001690.4(ATP6V1A):c.426+69A>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1619443	NM_001690.4(ATP6V1A):c.427-13C>T	ATP6V1A	Single nucleotide variant (intron 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 2123594	NM_001690.4(ATP6V1A):c.427-9T>G	ATP6V1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2889055	NM_001690.4(ATP6V1A):c.429T>G (p.Val143=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429847	NM_001690.4(ATP6V1A):c.431G>A (p.Gly144Asp)	ATP6V1A (G144D)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 1382546	NM_001690.4(ATP6V1A):c.434G>C (p.Ser145Thr)	ATP6V1A (S145T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368971	NM_001690.4(ATP6V1A):c.435T>A (p.Ser145Arg)	ATP6V1A (S145R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071059	NM_001690.4(ATP6V1A):c.441C>G (p.Ile147Met)	ATP6V1A (I147M)	Single nucleotide variant (missense variant)	not provided	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 2984077	NM_001690.4(ATP6V1A):c.474G>C (p.Glu158Asp)	ATP6V1A (E158D)	Single nucleotide variant (missense variant)	not provided	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 1938053	NM_001690.4(ATP6V1A):c.480G>A (p.Ser160=)	ATP6V1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698139	NM_001690.4(ATP6V1A):c.493A>G (p.Lys165Glu)	ATP6V1A (K165E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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