ClinVar for MedGen (Select 42426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366744	NM_000053.4(ATP7B):c.2075T>C (p.Leu692Pro)	ATP7B (L549P +4 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GPathogenic
Select item 3366313	NM_000053.4(ATP7B):c.1488C>T (p.Gly496=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3362667	NM_000053.2(ATP7B):c.-362C>T	ATP7B, LOC130009838	Single nucleotide variant (5 prime UTR variant +1 more)	Wilson disease	GUncertain significance
Select item 3362264	NM_000053.4(ATP7B):c.3871del (p.Ala1291fs)	ATP7B (A1010fs +27 more)	Deletion (frameshift variant +1 more)	Wilson disease	GUncertain significance
Select item 3341322	NM_000053.4(ATP7B):c.448_452del (p.Glu150fs)	ATP7B (E118fs +1 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3340521	NM_000053.4(ATP7B):c.2968G>C (p.Ala990Pro)	ATP7B (A560P +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3338425	NM_000053.4(ATP7B):c.2747T>C (p.Leu916Pro)	ATP7B (L486P +15 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3251922	NM_000053.4(ATP7B):c.3007_3009delinsACA (p.Ala1003Thr)	ATP7B (A992T +19 more)	Indel (missense variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3250441	NM_000053.4(ATP7B):c.3707T>C (p.Ile1236Thr)	ATP7B (I1009T +27 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3244115	NC_000013.10:g.(?_52540123)_(52548920_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244114	NC_000013.10:g.(?_52511949)_(52515321_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244113	NC_000013.10:g.(?_52508892)_(52542763_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244112	NC_000013.10:g.(?_52542560)_(52544905_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244111	NC_000013.10:g.(?_52515197)_(52518447_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244110	NC_000013.10:g.(?_52513167)_(52520634_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244109	NC_000013.10:g.(?_52548051)_(52585933_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244108	NC_000013.10:g.(?_52585403)_(52585933_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244107	NC_000013.10:g.(?_52518407)_(52518976_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3242147	NM_000053.4(ATP7B):c.3445G>A (p.Gly1149Arg)	ATP7B (G1000R +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240822	NM_000053.4(ATP7B):c.1211dup (p.Asn404fs)	ATP7B (N261fs +3 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic
Select item 3240821	NM_000053.4(ATP7B):c.2448-1G>A	ATP7B	Single nucleotide variant (splice acceptor variant +1 more)	Wilson disease	GPathogenic
Select item 3240819	NM_000053.4(ATP7B):c.1707+5G>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GPathogenic
Select item 3240818	NM_000053.4(ATP7B):c.2047del (p.Val683fs)	ATP7B (V540fs +4 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240817	NM_000053.4(ATP7B):c.2415del (p.Val805_Val806insTer)	ATP7B	Deletion (frameshift variant +1 more)	Wilson disease	GPathogenic
Select item 3240816	NM_000053.4(ATP7B):c.2891_2894del (p.Thr964fs)	ATP7B (T534fs +19 more)	Microsatellite (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240815	NM_000053.4(ATP7B):c.3451del (p.Arg1151fs)	ATP7B (R1002fs +25 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240814	NM_000053.4(ATP7B):c.3278_3279delinsGCTGTA (p.Asp1093fs)	ATP7B (D1009fs +26 more)	Indel (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3240813	NM_000053.4(ATP7B):c.1725dup (p.Ala576fs)	ATP7B (A433fs +4 more)	Duplication (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240811	NM_000053.4(ATP7B):c.571_575del (p.Leu191fs)	ATP7B (L159fs +1 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 3240808	NM_000053.4(ATP7B):c.4049T>C (p.Leu1350Pro)	ATP7B (L1069P +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 3239707	NM_000053.4(ATP7B):c.364G>T (p.Glu122Ter)	ATP7B (E122* +1 more)	Single nucleotide variant (nonsense)	Wilson disease	GLikely pathogenic
Select item 3239706	NM_000053.4(ATP7B):c.3751A>T (p.Lys1251Ter)	ATP7B (K1024* +27 more)	Single nucleotide variant (nonsense +1 more)	Wilson disease	GLikely pathogenic
Select item 3239705	NM_000053.4(ATP7B):c.561T>A (p.Tyr187Ter)	ATP7B (Y155* +1 more)	Single nucleotide variant (nonsense)	Wilson disease	GLikely pathogenic
Select item 3237377	NM_000053.4(ATP7B):c.2731-2A>T	ATP7B	Single nucleotide variant (splice acceptor variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3236436	NM_000053.4(ATP7B):c.727_728insA (p.Phe243fs)	ATP7B (F211fs +1 more)	Insertion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3234948	NM_000053.4(ATP7B):c.368_369insTTCGAAGC (p.Ile125fs)	ATP7B (I125fs)	Insertion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3234895	NM_000053.4(ATP7B):c.732del (p.Asn244fs)	ATP7B (N212fs +1 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3075811	NM_000053.4(ATP7B):c.4011dup (p.Ile1338fs)	ATP7B (I1057fs +28 more)	Duplication (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3075810	NM_000053.4(ATP7B):c.421C>T (p.Gln141Ter)	ATP7B (Q109* +1 more)	Single nucleotide variant (nonsense)	Wilson disease	GLikely pathogenic
Select item 3075809	NM_000053.4(ATP7B):c.903T>A (p.Tyr301Ter)	ATP7B (Y269* +1 more)	Single nucleotide variant (nonsense +1 more)	Wilson disease	GPathogenic
Select item 3075808	NM_000053.4(ATP7B):c.1564del (p.Ala522fs)	ATP7B (A379fs +3 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3075807	NM_000053.4(ATP7B):c.2002del (p.Leu667_Met668insTer)	ATP7B	Deletion (nonsense +1 more)	Wilson disease	GLikely pathogenic
Select item 3075806	NM_000053.4(ATP7B):c.3649del (p.Val1217fs)	ATP7B (V1001fs +27 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3075782	NM_000053.4(ATP7B):c.2464dup (p.Met822fs)	ATP7B (M606fs +14 more)	Duplication (frameshift variant +1 more)	Wilson disease	GPathogenic
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 3075478	NM_000053.4(ATP7B):c.1870-14T>C	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely benign
Select item 3075464	NM_000053.4(ATP7B):c.2681C>G (p.Thr894Ser)	ATP7B (T464S +15 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075431	NM_000053.4(ATP7B):c.1285+6T>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance
Select item 3075402	NM_000053.4(ATP7B):c.1486G>A (p.Gly496Ser)	ATP7B (G353S +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance

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