ClinVar for Gene (Select 2719) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064931	NM_004484.4(GPC3):c.780G>A (p.Trp260Ter)	GPC3 (W206* +2 more)	Single nucleotide variant (nonsense)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 3062560	GRCh37/hg19 Xq26.2(chrX:132833618-132969000)	GPC3	Copy number loss	not specified	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3031770	NM_004484.4(GPC3):c.1033-4250T>C	GPC3	Single nucleotide variant (intron variant)	GPC3-related condition	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 3024046	NM_004484.4(GPC3):c.257G>T (p.Arg86Leu)	GPC3 (R86L)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1	GUncertain significance
Select item 3017013	NM_004484.4(GPC3):c.1735G>A (p.Val579Met)	GPC3 (V525M +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 3016463	NM_004484.4(GPC3):c.1236T>C (p.His412=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GBenign
Select item 3015056	NM_004484.4(GPC3):c.382G>A (p.Ala128Thr)	GPC3 (A112T +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 3011320	NM_004484.4(GPC3):c.1679C>T (p.Ser560Phe)	GPC3 (S560F +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 3007290	NM_004484.4(GPC3):c.175+7A>C	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 3005131	NM_004484.4(GPC3):c.1488A>G (p.Gly496=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 3001238	NM_004484.4(GPC3):c.504T>C (p.Asn168=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2999702	NM_004484.4(GPC3):c.752A>T (p.Asp251Val)	GPC3 (D235V +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2994303	NM_004484.4(GPC3):c.1293A>G (p.Arg431=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GUncertain significance
Select item 2989977	NM_004484.4(GPC3):c.652C>A (p.Gln218Lys)	GPC3 (Q164K +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2989250	NM_004484.4(GPC3):c.1292+17G>T	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2988110	NM_004484.4(GPC3):c.1401G>A (p.Lys467=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2975308	NM_004484.4(GPC3):c.937A>G (p.Ile313Val)	GPC3 (I313V +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2975233	NM_004484.4(GPC3):c.116G>T (p.Arg39Leu)	GPC3 (R39L)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2971581	NM_004484.4(GPC3):c.790T>A (p.Tyr264Asn)	GPC3 (Y248N +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2963861	NM_004484.4(GPC3):c.281A>G (p.Gln94Arg)	GPC3 (Q94R)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1	GUncertain significance
Select item 2960833	NM_004484.4(GPC3):c.1573+5C>T	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GUncertain significance
Select item 2956497	NM_004484.4(GPC3):c.290G>A (p.Ser97Asn)	GPC3 (S97N)	Single nucleotide variant (missense variant +2 more)	Wilms tumor 1	GUncertain significance
Select item 2920458	NM_004484.4(GPC3):c.964G>C (p.Gly322Arg)	GPC3 (G268R +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2919375	NM_004484.4(GPC3):c.1587T>A (p.Asp529Glu)	GPC3 (D513E +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2914950	NM_004484.4(GPC3):c.1586A>G (p.Asp529Gly)	GPC3 (D475G +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2914704	NM_004484.4(GPC3):c.1571C>A (p.Ala524Glu)	GPC3 (A547E +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2913997	NM_004484.4(GPC3):c.1331A>G (p.Gln444Arg)	GPC3 (Q390R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2910916	NM_004484.4(GPC3):c.1243G>A (p.Val415Met)	GPC3 (V415M +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2909613	NM_004484.4(GPC3):c.1595T>C (p.Val532Ala)	GPC3 (V478A +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2906141	NM_004484.4(GPC3):c.643A>G (p.Ile215Val)	GPC3 (I161V +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2905404	NM_004484.4(GPC3):c.176-13T>G	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2901929	NM_004484.4(GPC3):c.1425C>G (p.Thr475=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2897162	NM_004484.4(GPC3):c.1004A>G (p.Gln335Arg)	GPC3 (Q319R +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2894024	NM_004484.4(GPC3):c.1370C>T (p.Pro457Leu)	GPC3 (P403L +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2893558	NM_004484.4(GPC3):c.386T>C (p.Met129Thr)	GPC3 (M113T +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2890502	NM_004484.4(GPC3):c.997T>G (p.Tyr333Asp)	GPC3 (Y317D +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2887673	NM_004484.4(GPC3):c.1188G>C (p.Lys396Asn)	GPC3 (K380N +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2874611	NM_004484.4(GPC3):c.492T>G (p.Asp164Glu)	GPC3 (D148E +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2874566	NM_004484.4(GPC3):c.1737G>C (p.Val579=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2870475	NM_004484.4(GPC3):c.1166+15T>C	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2862185	NM_004484.4(GPC3):c.1069T>G (p.Tyr357Asp)	GPC3 (Y303D +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2856503	NM_004484.4(GPC3):c.1262T>G (p.Leu421Arg)	GPC3 (L367R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2856383	NM_004484.4(GPC3):c.1292+18T>A	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2851334	NM_004484.4(GPC3):c.539C>T (p.Thr180Ile)	GPC3 (T126I +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2850872	NM_004484.4(GPC3):c.41T>C (p.Met14Thr)	GPC3 (M14T)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2846461	NM_004484.4(GPC3):c.1377C>T (p.Val459=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2843332	NM_004484.4(GPC3):c.1731C>T (p.Phe577=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2841487	NM_004484.4(GPC3):c.1196T>C (p.Ile399Thr)	GPC3 (I422T +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2840243	NM_004484.4(GPC3):c.300C>T (p.Leu100=)	GPC3	Single nucleotide variant (intron variant +1 more)	Wilms tumor 1	GLikely benign
Select item 2839099	NM_004484.4(GPC3):c.701A>G (p.Asn234Ser)	GPC3 (N180S +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2838428	NM_004484.4(GPC3):c.352GTT[1] (p.Val119del)	GPC3 (V103del +2 more)	Microsatellite (inframe_deletion)	Wilms tumor 1	GUncertain significance
Select item 2834355	NM_004484.4(GPC3):c.248T>G (p.Leu83Arg)	GPC3 (L83R)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1	GUncertain significance
Select item 2831388	NM_004484.4(GPC3):c.1337del (p.Asn446fs)	GPC3 (N392fs +3 more)	Deletion (frameshift variant)	Wilms tumor 1	GPathogenic
Select item 2831217	NM_004484.4(GPC3):c.1553A>G (p.Asn518Ser)	GPC3 (N518S +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2830886	NM_004484.4(GPC3):c.1139A>C (p.His380Pro)	GPC3 (H364P +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2830379	NM_004484.4(GPC3):c.1739A>C (p.His580Pro)	GPC3 (H526P +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2829767	NM_004484.4(GPC3):c.343T>C (p.Phe115Leu)	GPC3 (F61L +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2827476	NM_004484.4(GPC3):c.1631C>G (p.Pro544Arg)	GPC3 (P528R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2824685	NM_004484.4(GPC3):c.383C>A (p.Ala128Asp)	GPC3 (A128D +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2823345	NM_004484.4(GPC3):c.11C>T (p.Thr4Ile)	GPC3 (T4I)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2823255	NM_004484.4(GPC3):c.413C>T (p.Thr138Ile)	GPC3 (T122I +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2819558	NM_004484.4(GPC3):c.1169A>C (p.Glu390Ala)	GPC3 (E374A +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2817783	NM_004484.4(GPC3):c.158C>T (p.Pro53Leu)	GPC3 (P53L)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2816685	NM_004484.4(GPC3):c.103T>G (p.Cys35Gly)	GPC3 (C35G)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2815804	NM_004484.4(GPC3):c.1166+20T>C	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2815521	NM_004484.4(GPC3):c.1201T>A (p.Phe401Ile)	GPC3 (F424I +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2814992	NM_004484.4(GPC3):c.429G>A (p.Glu143=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2813309	NM_004484.4(GPC3):c.715G>A (p.Val239Met)	GPC3 (V239M +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2806110	NM_004484.4(GPC3):c.1033-20T>A	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2806108	NM_004484.4(GPC3):c.1099T>A (p.Phe367Ile)	GPC3 (F313I +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2801969	NM_004484.4(GPC3):c.1414-3C>A	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GUncertain significance
Select item 2799388	NM_004484.4(GPC3):c.1413+11T>C	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2791217	NM_004484.4(GPC3):c.1166+19C>T	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2790205	NM_004484.4(GPC3):c.779G>C (p.Trp260Ser)	GPC3 (W260S +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2787472	NM_004484.4(GPC3):c.60C>T (p.Phe20=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2786829	NM_004484.4(GPC3):c.989C>T (p.Ser330Phe)	GPC3 (S276F +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2786508	NM_004484.4(GPC3):c.1166G>T (p.Arg389Met)	GPC3 (R373M +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2777823	NM_004484.4(GPC3):c.901C>A (p.Leu301Met)	GPC3 (L285M +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2773131	NM_004484.4(GPC3):c.1239C>A (p.Ser413Arg)	GPC3 (S413R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2770057	NM_004484.4(GPC3):c.648G>A (p.Met216Ile)	GPC3 (M216I +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2767858	NM_004484.4(GPC3):c.1175T>C (p.Ile392Thr)	GPC3 (I376T +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2766628	NM_004484.4(GPC3):c.1208G>C (p.Ser403Thr)	GPC3 (S349T +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2765508	NM_004484.4(GPC3):c.1187A>G (p.Lys396Arg)	GPC3 (K380R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2763830	NM_004484.4(GPC3):c.1511A>G (p.Glu504Gly)	GPC3 (E450G +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2761629	NM_004484.4(GPC3):c.1661A>T (p.Asn554Ile)	GPC3 (N538I +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2757888	NM_004484.4(GPC3):c.1677T>C (p.His559=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2756168	NM_004484.4(GPC3):c.719T>A (p.Ile240Asn)	GPC3 (I186N +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2754751	NM_004484.4(GPC3):c.593T>C (p.Leu198Pro)	GPC3 (L198P +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2745534	NM_004484.4(GPC3):c.535T>G (p.Tyr179Asp)	GPC3 (Y125D +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2745075	NM_004484.4(GPC3):c.479A>G (p.Asp160Gly)	GPC3 (D106G +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2742815	NM_004484.4(GPC3):c.49del (p.Ser17fs)	GPC3 (S17fs)	Deletion (frameshift variant)	Wilms tumor 1	GPathogenic
Select item 2742808	NM_004484.4(GPC3):c.1301A>G (p.Gln434Arg)	GPC3 (Q434R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2740511	NM_004484.4(GPC3):c.1033-20T>C	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2740116	NM_004484.4(GPC3):c.1033-10C>A	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2739939	NM_004484.4(GPC3):c.849A>G (p.Gln283=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2738489	NM_004484.4(GPC3):c.938T>A (p.Ile313Asn)	GPC3 (I297N +2 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2732744	NM_004484.4(GPC3):c.24G>A (p.Ala8=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign

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