ClinVar (all) for Orgtrack (Select 509529) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075659	NM_005159.5(ACTC1):c.78T>A (p.Asp26Glu)	ACTC1, GJD2-DT (D26E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075658	NM_005159.5(ACTC1):c.198C>A (p.Ile66=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075657	NM_005159.5(ACTC1):c.330C>T (p.Ala110=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075656	NM_005159.5(ACTC1):c.444C>G (p.Gly148=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075655	NM_001035.3(RYR2):c.2115del (p.Tyr706fs)	RYR2 (Y706fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075654	NM_005159.5(ACTC1):c.592C>T (p.Arg198Cys)	ACTC1, GJD2-DT (R153C +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075653	NM_005159.5(ACTC1):c.714G>A (p.Leu238=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075652	NM_005159.5(ACTC1):c.816A>G (p.Glu272=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075651	NM_000321.3(RB1):c.2781G>T (p.Glu927Asp)	RB1 (E77D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3075650	NM_000321.3(RB1):c.2539A>C (p.Lys847Gln)	RB1 (K847Q)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 3075649	NM_000321.3(RB1):c.2235AGA[1] (p.Glu748del)	RB1 (E748del)	Microsatellite (inframe_deletion)	Retinoblastoma	GUncertain significance
Select item 3075648	NM_000321.3(RB1):c.2108T>C (p.Ile703Thr)	RB1 (I703T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075647	NM_000321.3(RB1):c.2018A>G (p.His673Arg)	RB1 (H673R)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 3075646	NM_000321.3(RB1):c.1833A>G (p.Arg611=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GUncertain significance
Select item 3075645	NM_000321.3(RB1):c.1596C>G (p.Ile532Met)	RB1 (I532M)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075644	NM_000321.3(RB1):c.1363C>A (p.Arg455=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GUncertain significance
Select item 3075643	NM_000321.3(RB1):c.1161G>T (p.Met387Ile)	RB1 (M387I)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075642	NM_000321.3(RB1):c.819T>C (p.Ile273=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3075641	NM_000321.3(RB1):c.504A>G (p.Thr168=)	RB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3075640	NM_000321.3(RB1):c.468T>C (p.Asp156=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3075639	NM_000321.3(RB1):c.317C>A (p.Ala106Glu)	RB1 (A106E)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075638	NM_000321.3(RB1):c.25A>C (p.Thr9Pro)	RB1 (T9P)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075637	NM_001035.3(RYR2):c.1644_1645del (p.Ala549fs)	RYR2 (A549fs)	Microsatellite (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075636	NM_000059.4(BRCA2):c.8401_8403del (p.Phe2801del)	BRCA2 (F1157del +3 more)	Deletion (inframe_deletion +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075635	NM_000059.4(BRCA2):c.7210A>G (p.Lys2404Glu)	BRCA2 (K2372E +3 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 3075634	NM_000059.4(BRCA2):c.6378C>T (p.Cys2126=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 3075633	NM_000059.4(BRCA2):c.6080G>T (p.Arg2027Ile)	BRCA2 (R2027I)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075632	NM_000059.4(BRCA2):c.5962G>T (p.Val1988Leu)	BRCA2 (V1988L)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075631	NM_000059.4(BRCA2):c.5592C>T (p.Asp1864=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 3075630	NM_000059.4(BRCA2):c.5558G>T (p.Cys1853Phe)	BRCA2 (C1853F)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075629	NM_000059.4(BRCA2):c.5557T>C (p.Cys1853Arg)	BRCA2 (C1853R)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075628	NM_000059.4(BRCA2):c.4996A>G (p.Asn1666Asp)	BRCA2 (N1666D)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075627	NM_000059.4(BRCA2):c.4344T>C (p.Asn1448=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 3075626	NM_001035.3(RYR2):c.802_803insAA (p.Ser268Ter)	RYR2 (S268*)	Insertion (nonsense)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075625	NM_000059.4(BRCA2):c.3860A>T (p.Asn1287Ile)	BRCA2 (N1287I)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075624	NM_001035.3(RYR2):c.792_802del (p.Gly265fs)	RYR2 (G265fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3075623	NM_000059.4(BRCA2):c.3726T>C (p.Ser1242=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 3075622	NM_000059.4(BRCA2):c.2413T>A (p.Ser805Thr)	BRCA2 (S805T)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075621	NM_000059.4(BRCA2):c.2296G>A (p.Ala766Thr)	BRCA2 (A766T)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075620	NM_000059.4(BRCA2):c.1999C>T (p.Leu667=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 3075619	NM_000059.4(BRCA2):c.1687T>C (p.Trp563Arg)	BRCA2 (W563R)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075618	NM_000059.4(BRCA2):c.1498G>T (p.Gly500Cys)	BRCA2 (G500C)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3075617	NM_000053.4(ATP7B):c.2200G>A (p.Val734Ile)	ATP7B (V591I +6 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075616	NM_000053.4(ATP7B):c.2213G>A (p.Ser738Asn)	ATP7B (S595N +6 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075615	NM_000053.4(ATP7B):c.2245G>T (p.Val749Leu)	ATP7B (V606L +6 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075614	NM_000053.4(ATP7B):c.2302C>G (p.Pro768Ala)	ATP7B (P625A +9 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075613	NM_000053.4(ATP7B):c.2353A>C (p.Lys785Gln)	ATP7B (K642Q +9 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075612	NM_000053.4(ATP7B):c.2359A>G (p.Lys787Glu)	ATP7B (K571E +14 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075611	NM_000053.4(ATP7B):c.2398G>A (p.Ala800Thr)	ATP7B (A584T +14 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075610	NM_000053.4(ATP7B):c.2543G>T (p.Gly848Val)	ATP7B (G632V +14 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075609	NM_000053.4(ATP7B):c.2617A>G (p.Ile873Val)	ATP7B (I443V +15 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075608	NM_000053.4(ATP7B):c.2627C>G (p.Ser876Cys)	ATP7B (S446C +15 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075607	NM_000053.4(ATP7B):c.2637A>C (p.Ala879=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 3075606	NM_000053.4(ATP7B):c.2766A>T (p.Gly922=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease	GLikely benign
Select item 3075605	NM_000053.4(ATP7B):c.2869C>T (p.Pro957Ser)	ATP7B (P527S +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075604	NM_000053.4(ATP7B):c.2907G>C (p.Arg969=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease	GLikely benign
Select item 3075603	NM_000053.4(ATP7B):c.2968G>T (p.Ala990Ser)	ATP7B (A560S +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075602	NM_000053.4(ATP7B):c.2993G>T (p.Gly998Val)	ATP7B (G568V +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075601	NM_000053.4(ATP7B):c.3016G>A (p.Gly1006Ser)	ATP7B (G1006S +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075600	NM_000053.4(ATP7B):c.3038A>G (p.Lys1013Arg)	ATP7B (K1002R +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075599	NM_000053.4(ATP7B):c.3050T>C (p.Met1017Thr)	ATP7B (M1006T +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075598	NM_000053.4(ATP7B):c.3070G>C (p.Val1024Leu)	ATP7B (V1006L +25 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3075597	NM_000053.4(ATP7B):c.3178G>T (p.Val1060Leu)	ATP7B (V1060L +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075596	NM_000053.4(ATP7B):c.3308G>A (p.Gly1103Glu)	ATP7B (G1007E +26 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 3075595	NM_000053.4(ATP7B):c.3313A>G (p.Lys1105Glu)	ATP7B (K1009E +26 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075594	NM_000053.4(ATP7B):c.3335T>A (p.Ile1112Asn)	ATP7B (I1001N +26 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075593	NM_000053.4(ATP7B):c.3335T>G (p.Ile1112Ser)	ATP7B (I1001S +26 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075592	NM_000053.4(ATP7B):c.3356C>G (p.Pro1119Arg)	ATP7B (P1003R +26 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075591	NM_000053.4(ATP7B):c.3457T>G (p.Trp1153Gly)	ATP7B (W1004G +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075590	NM_000053.4(ATP7B):c.3490G>A (p.Asp1164Asn)	ATP7B (D957N +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075589	NM_000053.4(ATP7B):c.3569G>C (p.Gly1190Ala)	ATP7B (G1026A +27 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075588	NM_000053.4(ATP7B):c.3612G>A (p.Leu1204=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 3075587	NM_000053.4(ATP7B):c.3670C>G (p.Arg1224Gly)	ATP7B (R1008G +27 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075586	NM_000053.4(ATP7B):c.3670C>T (p.Arg1224Trp)	ATP7B (R1008W +27 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075585	NM_000053.4(ATP7B):c.3696C>A (p.Thr1232=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 3075584	NM_000053.4(ATP7B):c.3838A>G (p.Met1280Val)	ATP7B (M1053V +27 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075583	NM_000053.4(ATP7B):c.3844G>A (p.Val1282Met)	ATP7B (V1001M +27 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075582	NM_000053.4(ATP7B):c.3857C>T (p.Thr1286Ile)	ATP7B (T1005I +27 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075581	NM_000053.4(ATP7B):c.3879G>C (p.Glu1293Asp)	ATP7B (E1012D +27 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075580	NM_000053.4(ATP7B):c.4004G>T (p.Gly1335Val)	ATP7B (G1054V +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075579	NM_000053.4(ATP7B):c.4036A>T (p.Ile1346Phe)	ATP7B (I1065F +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075578	NM_000053.4(ATP7B):c.4098G>A (p.Val1366=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GUncertain significance
Select item 3075577	NM_000053.4(ATP7B):c.4120A>G (p.Lys1374Glu)	ATP7B (K1356E +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075576	NM_000053.4(ATP7B):c.4181C>G (p.Pro1394Arg)	ATP7B (P1113R +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075575	NM_000053.4(ATP7B):c.4198G>C (p.Val1400Leu)	ATP7B (V1119L +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075574	NM_000053.4(ATP7B):c.4207C>T (p.His1403Tyr)	ATP7B (H1122Y +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075573	NM_000053.4(ATP7B):c.4208A>G (p.His1403Arg)	ATP7B (H1122R +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075572	NM_000053.4(ATP7B):c.4219G>C (p.Asp1407His)	ATP7B (D1126H +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075571	NM_000053.4(ATP7B):c.4241C>A (p.Pro1414His)	ATP7B (P1133H +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075570	NM_000053.4(ATP7B):c.4300A>C (p.Thr1434Pro)	ATP7B (T1004P +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075569	NM_000053.4(ATP7B):c.4338C>A (p.Asp1446Glu)	ATP7B (D1016E +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075568	NM_000053.4(ATP7B):c.4339G>A (p.Asp1447Asn)	ATP7B (D1017N +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075567	NM_000053.4(ATP7B):c.4360C>G (p.Leu1454Val)	ATP7B (L1024V +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075566	NM_000053.4(ATP7B):c.4378G>T (p.Asp1460Tyr)	ATP7B (D1030Y +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075565	NM_001005242.3(PKP2):c.1576G>T (p.Ala526Ser)	PKP2 (A417S +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075564	NM_174936.4(PCSK9):c.1660C>T (p.Gln554Ter)	PCSK9 (Q429* +7 more)	Single nucleotide variant (nonsense +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075563	NM_000432.4(MYL2):c.145C>G (p.Leu49Val)	MYL2 (L30V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075562	NM_000432.4(MYL2):c.240T>A (p.Thr80=)	MYL2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075561	NM_024426.6(WT1):c.69_70del (p.Arg24fs)	LOC107982234, WT1 (R24fs)	Deletion (frameshift variant +1 more)	Wilms tumor 1	GUncertain significance
Select item 3075560	NM_024426.6(WT1):c.76_80del (p.Gly26fs)	LOC107982234, WT1 (G26fs)	Deletion (frameshift variant +1 more)	Wilms tumor 1	GUncertain significance

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