ClinVar for MedGen (Select 42426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Wilson disease	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
Select item 3075398	NM_000053.4(ATP7B):c.1161del (p.Gln388fs)	ATP7B (Q245fs +3 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 3075306	NM_000053.4(ATP7B):c.1919A>G (p.His640Arg)	ATP7B (H497R +4 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075300	NM_000053.4(ATP7B):c.3008C>G (p.Ala1003Gly)	ATP7B (A1003G +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075298	NM_000053.4(ATP7B):c.3122G>A (p.Arg1041Gln)	ATP7B (R1009Q +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075296	NM_000053.4(ATP7B):c.2273G>C (p.Arg758Thr)	ATP7B (R615T +9 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075295	NM_000053.4(ATP7B):c.316G>A (p.Val106Ile)	ATP7B (V106I +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075288	NM_000053.4(ATP7B):c.3479C>G (p.Thr1160Ser)	ATP7B (T1011S +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075258	NM_000053.4(ATP7B):c.1286-15G>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely benign
Select item 3075240	NM_000053.4(ATP7B):c.1441T>G (p.Ser481Ala)	ATP7B (S338A +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075236	NM_000053.4(ATP7B):c.1870-3A>C	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance
Select item 3075227	NM_000053.4(ATP7B):c.1188A>T (p.Glu396Asp)	ATP7B (E253D +3 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075191	NM_000053.4(ATP7B):c.1001G>A (p.Ser334Asn)	ATP7B (S302N +1 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075177	NM_000053.4(ATP7B):c.1911C>A (p.Asn637Lys)	ATP7B (N494K +4 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3075160	NM_000053.4(ATP7B):c.658G>A (p.Gly220Arg)	ATP7B (G188R +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3075066	NM_000053.4(ATP7B):c.758G>C (p.Gly253Ala)	ATP7B (G221A +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074885	NM_000053.4(ATP7B):c.784A>G (p.Arg262Gly)	ATP7B (R230G +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074876	NM_000053.4(ATP7B):c.3481A>G (p.Ile1161Val)	ATP7B (I1012V +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3074863	NM_000053.4(ATP7B):c.2770T>C (p.Phe924Leu)	ATP7B (F494L +15 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3074837	NM_000053.4(ATP7B):c.2696T>C (p.Ile899Thr)	ATP7B (I469T +15 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074814	NM_000053.4(ATP7B):c.2264A>C (p.Lys755Thr)	ATP7B (K612T +6 more)	Single nucleotide variant (missense variant +2 more)	Wilson disease	GUncertain significance
Select item 3074795	NM_000053.4(ATP7B):c.1493C>A (p.Thr498Asn)	ATP7B (T355N +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3074785	NM_000053.4(ATP7B):c.4231C>T (p.Arg1411Trp)	ATP7B (R1130W +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074742	NM_000053.4(ATP7B):c.2995A>T (p.Thr999Ser)	ATP7B (T569S +19 more)	Single nucleotide variant (intron variant +1 more)	Wilson disease	GUncertain significance
Select item 3074713	NM_000053.4(ATP7B):c.2964G>A (p.Gly988=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease	GLikely benign
Select item 3074687	NM_000053.4(ATP7B):c.2532A>G (p.Lys844=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease	GLikely benign
Select item 3074669	NM_000053.4(ATP7B):c.851G>A (p.Gly284Glu)	ATP7B (G252E +1 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3074623	NM_000053.4(ATP7B):c.2588C>G (p.Pro863Arg)	ATP7B (P433R +15 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074616	NM_000053.4(ATP7B):c.2719C>A (p.Gln907Lys)	ATP7B (Q477K +15 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074612	NM_000053.4(ATP7B):c.77C>T (p.Thr26Ile)	ATP7B (T26I)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3074582	NM_000053.4(ATP7B):c.3521T>A (p.Met1174Lys)	ATP7B (M1012K +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3074574	NM_000053.4(ATP7B):c.2190C>G (p.Asp730Glu)	ATP7B (D587E +6 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 3074534	NM_000053.4(ATP7B):c.553A>G (p.Ile185Val)	ATP7B (I153V +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074502	NM_000053.4(ATP7B):c.454A>G (p.Met152Val)	ATP7B (M120V +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074484	NM_000053.4(ATP7B):c.3941C>T (p.Ser1314Phe)	ATP7B (S1033F +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance

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