ClinVar for Gene (Select 51322) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 299

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336253	NM_016628.5(WAC):c.1085T>A (p.Leu362His)	WAC (L259H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336189	NM_016628.5(WAC):c.1606A>G (p.Asn536Asp)	WAC (N433D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332541	NM_016628.5(WAC):c.820C>A (p.His274Asn)	WAC (H274N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332540	NM_016628.5(WAC):c.805A>T (p.Thr269Ser)	WAC (T269S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332539	NM_016628.5(WAC):c.793T>C (p.Ser265Pro)	WAC (S220P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332538	NM_016628.5(WAC):c.643T>A (p.Leu215Met)	WAC (L170M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332535	NM_016628.5(WAC):c.776C>G (p.Thr259Ser)	WAC (T214S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253152	NM_016628.5(WAC):c.329C>G (p.Ser110Ter)	WAC (S110* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3252819	NM_016628.5(WAC):c.1621A>G (p.Thr541Ala)	WAC (T438A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251853	NM_016628.5(WAC):c.455C>T (p.Thr152Ile)	WAC (T107I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235776	NM_016628.5(WAC):c.1632A>C (p.Pro544=)	WAC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3189469	NM_016628.5(WAC):c.763C>G (p.His255Asp)	WAC (H210D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189468	NM_016628.5(WAC):c.59G>A (p.Gly20Glu)	LOC130003576, WAC (G20E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189467	NM_016628.5(WAC):c.539G>A (p.Ser180Asn)	WAC (S135N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189466	NM_016628.5(WAC):c.314G>T (p.Ser105Ile)	WAC (S105I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069116	NM_016628.5(WAC):c.959C>A (p.Thr320Lys)	WAC (T217K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 3060411	NM_016628.5(WAC):c.1875-4dup	WAC	Duplication (intron variant)	WAC-related disorder	GBenign
Select item 3053577	NM_016628.5(WAC):c.66G>T (p.Ser22=)	LOC130003576, WAC	Single nucleotide variant (synonymous variant +1 more)	WAC-related disorder	GLikely benign
Select item 3051637	NM_016628.5(WAC):c.1589A>G (p.His530Arg)	WAC (H427R +2 more)	Single nucleotide variant (missense variant)	WAC-related disorder	GUncertain significance
Select item 3035983	NM_016628.5(WAC):c.96G>A (p.Ser32=)	WAC	Single nucleotide variant (synonymous variant +1 more)	WAC-related disorder	GLikely benign
Select item 3031043	NM_016628.5(WAC):c.886T>A (p.Ser296Thr)	WAC (S251T +1 more)	Single nucleotide variant (missense variant +1 more)	WAC-related disorder	GLikely benign
Select item 2902112	NM_016628.5(WAC):c.1165+4A>G	WAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2664873	NM_016628.5(WAC):c.497+2T>G	WAC	Single nucleotide variant (splice donor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 2664788	NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)	WAC (N358fs +2 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2640385	NM_016628.5(WAC):c.1053G>A (p.Ser351=)	WAC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640384	NM_016628.5(WAC):c.337C>T (p.His113Tyr)	WAC (H113Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640383	NM_016628.5(WAC):c.208A>G (p.Ser70Gly)	WAC (S25G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637828	NM_016628.5(WAC):c.1349dup (p.Tyr450Ter)	WAC (Y347* +2 more)	Duplication (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2637610	NM_016628.5(WAC):c.879A>C (p.Thr293=)	WAC	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2631198	NM_016628.5(WAC):c.1804T>A (p.Cys602Ser)	WAC (C499S +2 more)	Single nucleotide variant (missense variant)	WAC-related disorder	GUncertain significance
Select item 2630688	NM_016628.5(WAC):c.1474_1475del (p.Gln492fs)	WAC (Q389fs +2 more)	Microsatellite (frameshift variant)	WAC-related disorder	GPathogenic
Select item 2629403	NM_016628.5(WAC):c.1792A>G (p.Met598Val)	WAC (M495V +2 more)	Single nucleotide variant (missense variant)	WAC-related disorder	GUncertain significance
Select item 2627951	NM_016628.5(WAC):c.284dup (p.Tyr95Ter)	WAC (Y50* +1 more)	Duplication (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2627832	NM_016628.5(WAC):c.485_486del (p.Glu162fs)	WAC (E117fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 2627809	NM_016628.5(WAC):c.506_507del (p.Arg169fs)	WAC (R124fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627352	NM_016628.5(WAC):c.611-3A>C	WAC	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2597252	NM_016628.5(WAC):c.730A>C (p.Thr244Pro)	WAC (T244P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2581921	NM_016628.5(WAC):c.1746+3_1746+6del	WAC	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2578527	NM_016628.5(WAC):c.1747-2A>G	WAC	Single nucleotide variant (splice acceptor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 2578154	NM_016628.5(WAC):c.313A>G (p.Ser105Gly)	WAC (S105G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577970	NM_016628.5(WAC):c.1820del (p.Asn607fs)	WAC (N504fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2577830	NM_016628.5(WAC):c.1864dup (p.Arg622fs)	WAC (R519fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2575991	NM_016628.5(WAC):c.1589del (p.His530fs)	WAC (H427fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573095	NM_016628.5(WAC):c.1877T>A (p.Ile626Lys)	WAC (I523K +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2572246	NM_016628.5(WAC):c.1292_1294del (p.Gln431del)	WAC (Q328del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2570768	NM_016628.5(WAC):c.356A>T (p.Asn119Ile)	WAC (N119I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2558819	NM_016628.5(WAC):c.1099C>G (p.Leu367Val)	WAC (L264V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536390	NM_016628.5(WAC):c.74A>G (p.Tyr25Cys)	LOC130003576, WAC (Y25C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522321	NM_016628.5(WAC):c.1408A>G (p.Ser470Gly)	WAC (S425G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2511028	NM_016628.5(WAC):c.1624G>A (p.Val542Ile)	WAC (V439I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2505071	NM_016628.5(WAC):c.1738G>A (p.Glu580Lys)	WAC (E477K +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome	Gnot provided
Select item 2504956	NM_016628.5(WAC):c.1294C>G (p.Pro432Ala)	WAC (P329A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503377	NM_016628.5(WAC):c.390T>G (p.Asp130Glu)	WAC (D130E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501366	NM_016628.5(WAC):c.350dup (p.Ser118fs)	WAC (S118fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2499922	NM_016628.5(WAC):c.260G>C (p.Arg87Thr)	WAC (R42T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495827	NM_016628.5(WAC):c.922T>A (p.Ser308Thr)	WAC (S205T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477026	NM_016628.5(WAC):c.1742A>G (p.Lys581Arg)	WAC (K478R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462860	NM_016628.5(WAC):c.640A>G (p.Ser214Gly)	WAC (S169G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2446630	NM_016628.5(WAC):c.1213A>G (p.Lys405Glu)	WAC (K302E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445941	NM_016628.5(WAC):c.970A>T (p.Thr324Ser)	WAC (T221S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444361	NM_016628.5(WAC):c.610+2T>G	WAC	Single nucleotide variant (splice donor variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 2438660	NM_016628.5(WAC):c.265_266del (p.Arg89fs)	WAC (R44fs +1 more)	Microsatellite (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2438554	NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)	WAC (S417G +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2438553	NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)	WAC (S177Y +1 more)	Single nucleotide variant (missense variant +1 more)	DeSanto-Shinawi syndrome due to WAC point mutation +2 more	GUncertain significance
Select item 2438552	NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)	WAC (T235A +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2438551	NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)	WAC (R519Q +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GUncertain significance
Select item 2438550	NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)	WAC (P329L +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2438548	NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)	WAC (R414C +2 more)	Single nucleotide variant (missense variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GUncertain significance
Select item 2430571	NM_016628.5(WAC):c.1237G>A (p.Ala413Thr)	WAC (A310T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412806	NM_016628.5(WAC):c.1788del (p.His597fs)	WAC (H494fs +2 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 2381045	NM_016628.5(WAC):c.1655C>T (p.Thr552Met)	WAC (T507M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371684	NM_016628.5(WAC):c.1637A>G (p.Asn546Ser)	WAC (N501S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2322197	NM_016628.5(WAC):c.1939G>A (p.Val647Met)	WAC (V602M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319939	NM_016628.5(WAC):c.1124A>G (p.Gln375Arg)	WAC (Q330R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284981	NM_016628.5(WAC):c.275-2del	WAC	Deletion (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 2269710	NM_016628.5(WAC):c.1621A>C (p.Thr541Pro)	WAC (T496P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266122	NM_016628.5(WAC):c.305dup (p.His102fs)	WAC (H57fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2266121	NM_016628.5(WAC):c.301T>A (p.Ser101Thr)	WAC (S56T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260644	NM_016628.5(WAC):c.1084CTT[1] (p.Leu363del)	WAC (L318del +2 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2257033	NM_016628.5(WAC):c.1658G>A (p.Cys553Tyr)	WAC (C553Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232081	NM_016628.5(WAC):c.1746+4T>C	WAC	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2231021	NM_016628.5(WAC):c.125G>A (p.Arg42Lys)	WAC (R42K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229034	NM_016628.5(WAC):c.710C>T (p.Ala237Val)	WAC (A237V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211659	NM_016628.5(WAC):c.1508A>G (p.Lys503Arg)	WAC (K458R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205264	NM_016628.5(WAC):c.806C>T (p.Thr269Met)	WAC (T224M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1804468	NM_016628.5(WAC):c.1685A>T (p.His562Leu)	WAC (H459L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1727239	NM_016628.5(WAC):c.464dup (p.Gln156fs)	WAC (Q111fs +1 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1727053	NM_016628.5(WAC):c.1830_1833dup (p.Val612fs)	WAC (V509fs +2 more)	Duplication (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1723734	NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)	WAC (R519* +2 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation +1 more	GPathogenic
Select item 1723050	NM_016628.5(WAC):c.1448C>G (p.Pro483Arg)	WAC (P380R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712694	NM_016628.5(WAC):c.228_231del (p.Ser76fs)	WAC (S31fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1710867	NM_016628.5(WAC):c.837A>G (p.Ser279=)	WAC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1710204	NM_016628.5(WAC):c.207C>A (p.Tyr69Ter)	WAC (Y24* +1 more)	Single nucleotide variant (nonsense)	DeSanto-Shinawi syndrome due to WAC point mutation	GPathogenic
Select item 1709606	NM_016628.5(WAC):c.469T>C (p.Trp157Arg)	WAC (W112R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1709504	NM_016628.5(WAC):c.272del (p.Gly91fs)	WAC (G46fs +1 more)	Deletion (frameshift variant)	DeSanto-Shinawi syndrome due to WAC point mutation	GLikely pathogenic
Select item 1708872	NM_016628.5(WAC):c.1444A>G (p.Thr482Ala)	WAC (T379A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708751	NM_016628.5(WAC):c.376G>C (p.Asp126His)	WAC (D126H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3