ClinVar for Gene (Select 6840) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363173	NM_021738.3(SVIL):c.5879A>G (p.Lys1960Arg)	SVIL, SVIL-AS1 (K1534R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3363172	NM_021738.3(SVIL):c.4487C>A (p.Ala1496Asp)	SVIL, SVIL-AS1 (A1070D +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3352508	NM_021738.3(SVIL):c.160G>A (p.Gly54Ser)	SVIL (G54S)	Single nucleotide variant (missense variant)	SVIL-related disorder	GUncertain significance
Select item 3351607	NM_021738.3(SVIL):c.3472A>T (p.Ser1158Cys)	SVIL (S1158C +3 more)	Single nucleotide variant (missense variant)	SVIL-related disorder	GUncertain significance
Select item 3323769	NM_021738.3(SVIL):c.1846C>T (p.Arg616Trp)	SVIL (R616W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323768	NM_021738.3(SVIL):c.3770C>T (p.Pro1257Leu)	SVIL (P1257L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323767	NM_021738.3(SVIL):c.3956T>G (p.Met1319Arg)	SVIL (M1319R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323766	NM_021738.3(SVIL):c.5630T>G (p.Val1877Gly)	SVIL, SVIL-AS1 (V1567G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323765	NM_021738.3(SVIL):c.562C>T (p.His188Tyr)	SVIL (H188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323764	NM_021738.3(SVIL):c.314T>C (p.Ile105Thr)	SVIL (I105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323763	NM_021738.3(SVIL):c.5970G>A (p.Met1990Ile)	SVIL, SVIL-AS1 (M1564I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3323762	NM_021738.3(SVIL):c.6419A>G (p.Asn2140Ser)	SVIL, SVIL-AS1 (N1714S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323761	NM_021738.3(SVIL):c.3622G>A (p.Asp1208Asn)	SVIL (D1208N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323760	NM_021738.3(SVIL):c.6068G>A (p.Arg2023Gln)	SVIL, SVIL-AS1 (R1713Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323759	NM_021738.3(SVIL):c.2536A>G (p.Met846Val)	SVIL (M420V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323758	NM_021738.3(SVIL):c.634A>C (p.Ser212Arg)	SVIL (S212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323757	NM_021738.3(SVIL):c.1301G>A (p.Gly434Glu)	SVIL (G434E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257642	NM_021738.3(SVIL):c.3336G>T (p.Pro1112=)	SVIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239437	NM_021738.3(SVIL):c.3256C>G (p.Gln1086Glu)	SVIL (Q1086E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3172474	NM_021738.3(SVIL):c.6601G>A (p.Ala2201Thr)	SVIL, SVIL-AS1 (A1775T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172473	NM_021738.3(SVIL):c.6556G>A (p.Glu2186Lys)	SVIL, SVIL-AS1 (E1792K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172471	NM_021738.3(SVIL):c.6481G>A (p.Asp2161Asn)	SVIL, SVIL-AS1 (D1851N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172470	NM_021738.3(SVIL):c.6448G>A (p.Ala2150Thr)	SVIL, SVIL-AS1 (A1756T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172469	NM_021738.3(SVIL):c.6347C>T (p.Thr2116Ile)	SVIL, SVIL-AS1 (T1806I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172468	NM_021738.3(SVIL):c.6223C>T (p.Arg2075Cys)	SVIL, SVIL-AS1 (R1765C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172467	NM_021738.3(SVIL):c.5821G>A (p.Ala1941Thr)	SVIL, SVIL-AS1 (A1515T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172466	NM_021738.3(SVIL):c.5660G>A (p.Arg1887His)	SVIL, SVIL-AS1 (R1887H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172465	NM_021738.3(SVIL):c.5495T>C (p.Met1832Thr)	SVIL, SVIL-AS1 (M1438T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172464	NM_021738.3(SVIL):c.5483C>T (p.Thr1828Met)	SVIL, SVIL-AS1 (T1402M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172463	NM_021738.3(SVIL):c.5386C>G (p.Arg1796Gly)	SVIL, SVIL-AS1 (R1796G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172462	NM_021738.3(SVIL):c.5362A>G (p.Met1788Val)	SVIL, SVIL-AS1 (M1362V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172461	NM_021738.3(SVIL):c.524T>C (p.Leu175Pro)	SVIL (L175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172460	NM_021738.3(SVIL):c.4999A>C (p.Thr1667Pro)	SVIL, SVIL-AS1 (T1273P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172459	NM_021738.3(SVIL):c.4928C>T (p.Pro1643Leu)	SVIL, SVIL-AS1 (P1333L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172457	NM_021738.3(SVIL):c.4544A>G (p.Tyr1515Cys)	SVIL, SVIL-AS1 (Y1089C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172456	NM_021738.3(SVIL):c.4495C>A (p.Leu1499Ile)	SVIL, SVIL-AS1 (L1189I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172455	NM_021738.3(SVIL):c.422A>G (p.Lys141Arg)	SVIL (K141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172454	NM_021738.3(SVIL):c.4070G>A (p.Arg1357Gln)	SVIL (R1047Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172453	NM_021738.3(SVIL):c.4066C>T (p.Arg1356Cys)	SVIL (R930C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172452	NM_021738.3(SVIL):c.4055T>C (p.Val1352Ala)	SVIL (V926A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172451	NM_021738.3(SVIL):c.3946G>T (p.Asp1316Tyr)	SVIL (D922Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172450	NM_021738.3(SVIL):c.3860C>T (p.Thr1287Met)	SVIL (T977M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172449	NM_021738.3(SVIL):c.374A>G (p.Asp125Gly)	SVIL (D125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172448	NM_021738.3(SVIL):c.3710G>A (p.Cys1237Tyr)	SVIL (C811Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172446	NM_021738.3(SVIL):c.3614C>T (p.Ala1205Val)	SVIL (A1205V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172445	NM_021738.3(SVIL):c.3190G>A (p.Glu1064Lys)	SVIL (E1064K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172443	NM_021738.3(SVIL):c.3026C>T (p.Thr1009Ile)	SVIL (T615I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172442	NM_021738.3(SVIL):c.28C>T (p.Arg10Cys)	SVIL (R10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172441	NM_021738.3(SVIL):c.288C>G (p.His96Gln)	SVIL (H96Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172440	NM_021738.3(SVIL):c.2846A>G (p.Glu949Gly)	SVIL (E949G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172439	NM_021738.3(SVIL):c.2809G>A (p.Gly937Ser)	SVIL (G627S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172438	NM_021738.3(SVIL):c.2783C>T (p.Ser928Leu)	SVIL (S928L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172437	NM_021738.3(SVIL):c.2665A>G (p.Met889Val)	SVIL (M889V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172436	NM_021738.3(SVIL):c.259C>T (p.Pro87Ser)	SVIL (P87S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172435	NM_021738.3(SVIL):c.2507G>A (p.Arg836Gln)	SVIL (R526Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172434	NM_021738.3(SVIL):c.2264C>T (p.Ser755Leu)	SVIL (S361L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172433	NM_021738.3(SVIL):c.2159A>G (p.Asn720Ser)	SVIL (N326S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172432	NM_021738.3(SVIL):c.2155A>G (p.Arg719Gly)	SVIL (R325G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172431	NM_021738.3(SVIL):c.2069C>A (p.Ala690Asp)	SVIL (A296D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172430	NM_021738.3(SVIL):c.2030C>T (p.Thr677Met)	SVIL (T283M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172429	NM_021738.3(SVIL):c.1970C>G (p.Thr657Ser)	SVIL (T657S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172428	NM_021738.3(SVIL):c.1847G>T (p.Arg616Leu)	SVIL (R306L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172427	NM_021738.3(SVIL):c.1613C>T (p.Ser538Leu)	SVIL (S538L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172426	NM_021738.3(SVIL):c.1508C>T (p.Pro503Leu)	SVIL (P503L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172425	NM_021738.3(SVIL):c.1331G>T (p.Cys444Phe)	SVIL (C444F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172423	NM_021738.3(SVIL):c.1240G>A (p.Gly414Arg)	SVIL (G414R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172422	NM_021738.3(SVIL):c.1138G>A (p.Val380Met)	SVIL (V380M)	Single nucleotide variant (missense variant +1 more)	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 3048497	NM_021738.3(SVIL):c.3164C>T (p.Ala1055Val)	SVIL (A1055V +3 more)	Single nucleotide variant (missense variant)	SVIL-related disorder	GLikely benign
Select item 3040252	NM_021738.3(SVIL):c.4947T>C (p.Leu1649=)	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3036038	NM_021738.3(SVIL):c.4461T>C (p.Phe1487=)	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SVIL-related disorder	GLikely benign
Select item 2640391	NM_021738.3(SVIL):c.573C>T (p.Asp191=)	SVIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640390	NM_021738.3(SVIL):c.979G>A (p.Val327Ile)	SVIL (V327I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640389	NM_021738.3(SVIL):c.3972G>T (p.Val1324=)	SVIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640388	NM_021738.3(SVIL):c.4647A>G (p.Pro1549=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622435	NM_021738.3(SVIL):c.3477C>G (p.Ser1159Arg)	SVIL (S765R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616437	NM_021738.3(SVIL):c.3187T>G (p.Ser1063Ala)	SVIL (S637A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613882	NM_021738.3(SVIL):c.1486G>A (p.Val496Met)	SVIL (V496M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605502	NM_021738.3(SVIL):c.1994G>A (p.Arg665Gln)	SVIL (R355Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604799	NM_021738.3(SVIL):c.1422T>G (p.Asn474Lys)	SVIL (N474K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602815	NM_021738.3(SVIL):c.3322G>A (p.Glu1108Lys)	SVIL (E1108K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602230	NM_021738.3(SVIL):c.4205C>T (p.Ser1402Phe)	SVIL (S1402F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601002	NM_021738.3(SVIL):c.185C>T (p.Thr62Ile)	SVIL (T62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599537	NM_021738.3(SVIL):c.1172G>T (p.Cys391Phe)	SVIL (C391F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594141	NM_021738.3(SVIL):c.5419G>A (p.Gly1807Ser)	SVIL, SVIL-AS1 (G1497S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591276	NM_021738.3(SVIL):c.3814A>T (p.Thr1272Ser)	SVIL (T878S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2561195	NM_021738.3(SVIL):c.568G>A (p.Gly190Ser)	SVIL (G190S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557493	NM_021738.3(SVIL):c.6286C>G (p.Leu2096Val)	SVIL, SVIL-AS1 (L2096V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555926	NM_021738.3(SVIL):c.5596C>A (p.His1866Asn)	SVIL, SVIL-AS1 (H1556N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555523	NM_021738.3(SVIL):c.1738G>A (p.Gly580Arg)	SVIL (G580R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553321	NM_021738.3(SVIL):c.5666A>G (p.Glu1889Gly)	SVIL, SVIL-AS1 (E1463G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548661	NM_021738.3(SVIL):c.3060G>A (p.Met1020Ile)	SVIL (M594I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546285	NM_021738.3(SVIL):c.986A>G (p.Gln329Arg)	SVIL (Q329R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536092	NM_021738.3(SVIL):c.649G>A (p.Ala217Thr)	SVIL (A217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535193	NM_021738.3(SVIL):c.3008G>A (p.Arg1003Gln)	SVIL (R1003Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532298	NM_021738.3(SVIL):c.3745C>A (p.Pro1249Thr)	SVIL (P823T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526696	NM_021738.3(SVIL):c.6353T>C (p.Met2118Thr)	SVIL, SVIL-AS1 (M1808T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525706	NM_021738.3(SVIL):c.5893G>A (p.Glu1965Lys)	SVIL, SVIL-AS1 (E1571K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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