"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456558	NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2911524	NM_000053.4(ATP7B):c.4392C>T (p.Tyr1464=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1443683	NM_000053.4(ATP7B):c.4391A>C (p.Tyr1464Ser)	ATP7B (Y1386S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 802992	NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg)	ATP7B (Q1379R +4 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 1615070	NM_000053.4(ATP7B):c.4371T>C (p.Asn1457=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 434448	NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro)	ATP7B (L1454P +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	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 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 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 1127445	NM_000053.4(ATP7B):c.4338C>T (p.Asp1446=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 3073899	NM_000053.4(ATP7B):c.4337A>G (p.Asp1446Gly)	ATP7B (D1016G +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 967564	NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val)	ATP7B (A1445V +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 2156192	NM_000053.4(ATP7B):c.4327G>A (p.Ala1443Thr)	ATP7B (A1216T +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1086441	NM_000053.4(ATP7B):c.4326C>T (p.Ser1442=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2453689	NM_000053.4(ATP7B):c.4323C>G (p.His1441Gln)	ATP7B (H1298Q +28 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 968828	NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)	ATP7B (R1233Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 2135463	NM_000053.4(ATP7B):c.4318C>A (p.Arg1440=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 657988	NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp)	ATP7B (R1356W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2146334	NM_000053.4(ATP7B):c.4316C>G (p.Ser1439Cys)	ATP7B (S1232C +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 35732	NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2690999	NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter)	ATP7B (K1007* +28 more)	Single nucleotide variant (nonsense)	Wilson disease	GConflicting classifications of pathogenicity
Select item 1103682	NM_000053.4(ATP7B):c.4308C>T (p.Asp1436=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2148171	NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn)	ATP7B (D1209N +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1153633	NM_000053.4(ATP7B):c.4305C>T (p.Ser1435=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 35731	NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
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 1104713	NM_000053.4(ATP7B):c.4297C>T (p.Leu1433=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 871585	NM_000053.4(ATP7B):c.4296C>T (p.Ser1432=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 991410	NM_000053.4(ATP7B):c.4295C>T (p.Ser1432Phe)	ATP7B (S1225F +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 797785	NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 551073	NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	ATP7B (S1318fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 2166007	NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg)	ATP7B (Q1200R +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1655935	NM_000053.4(ATP7B):c.4278C>T (p.Ser1426=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2503983	NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile)	ATP7B (S1145I +28 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 2141514	NM_000053.4(ATP7B):c.4273G>A (p.Val1425Ile)	ATP7B (V1144I +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 972771	NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)	ATP7B (Y1340C +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 633069	NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3072347	NM_000053.4(ATP7B):c.4243A>G (p.Arg1415Gly)	ATP7B (R1134G +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 3072244	NM_000053.4(ATP7B):c.4240C>T (p.Pro1414Ser)	ATP7B (P1133S +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 810697	NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln)	ATP7B (R1300Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 2164224	NM_000053.4(ATP7B):c.4231C>G (p.Arg1411Gly)	ATP7B (R1204G +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3074367	NM_000053.4(ATP7B):c.4222G>A (p.Asp1408Asn)	ATP7B (D1127N +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 3069384	NM_000053.4(ATP7B):c.4217T>C (p.Met1406Thr)	ATP7B (M1125T +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 654242	NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 444316	NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)	ATP7B (G1405S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 3071157	NM_000053.4(ATP7B):c.4209C>A (p.His1403Gln)	ATP7B (H1122Q +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 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 3071509	NM_000053.4(ATP7B):c.4205T>G (p.Val1402Gly)	ATP7B (V1121G +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 3073931	NM_000053.4(ATP7B):c.4193C>T (p.Ser1398Phe)	ATP7B (S1117F +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1561997	NM_000053.4(ATP7B):c.4188G>A (p.Thr1396=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2414505	NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met)	ATP7B (T1115M +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 760410	NM_000053.4(ATP7B):c.4185G>A (p.Leu1395=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 312377	NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2145138	NM_000053.4(ATP7B):c.4174A>G (p.Met1392Val)	ATP7B (M1111V +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 881312	NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg)	ATP7B (H1182R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 2727050	NM_000053.4(ATP7B):c.4164G>T (p.Ala1388=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1631237	NM_000053.4(ATP7B):c.4164G>A (p.Ala1388=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 424208	NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val)	ATP7B (A1388V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1137277	NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)	ATP7B (A1181T +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 1162217	NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter)	ATP7B (E1175* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3074346	NM_000053.4(ATP7B):c.4139A>G (p.Asp1380Gly)	ATP7B (D1099G +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 157957	NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	ATP7B (P1379S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +4 more	GConflicting classifications of pathogenicity
Select item 1551701	NM_000053.4(ATP7B):c.4125-9G>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely benign
Select item 3070464	NM_000053.4(ATP7B):c.4125-14T>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance
Select item 2144455	NM_000053.4(ATP7B):c.4125-15G>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely benign
Select item 1163063	NM_000053.4(ATP7B):c.4124+4A>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +1 more	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 2774736	NM_000053.4(ATP7B):c.4116G>C (p.Gln1372His)	ATP7B (Q1178H +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1429372	NM_000053.4(ATP7B):c.4114C>G (p.Gln1372Glu)	ATP7B (Q1261E +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 741574	NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 3073682	NM_000053.4(ATP7B):c.4099G>T (p.Val1367Leu)	ATP7B (V1254L +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 371438	NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	ATP7B (S1281fs +4 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1210361	NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)	ATP7B (S1156C +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 649306	NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)	ATP7B (M1152I +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 1345783	NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val)	ATP7B (A1246V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 555192	NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)	ATP7B (G1355S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 3072637	NM_000053.4(ATP7B):c.4062G>T (p.Met1354Ile)	ATP7B (M1073I +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 2577289	NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser)	ATP7B (W1072S +28 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 35729	NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	ATP7B (W1353* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3074477	NM_000053.4(ATP7B):c.4055C>T (p.Pro1352Leu)	ATP7B (P1071L +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1525910	NM_000053.4(ATP7B):c.4045G>C (p.Val1349Leu)	ATP7B (V1349L +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 157956	NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	ATP7B (G1347S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
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 754357	NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GLikely benign
Select item 1020318	NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu)	ATP7B (M1137L +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3071722	NM_000053.4(ATP7B):c.4025T>A (p.Val1342Asp)	ATP7B (V1061D +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 553709	NM_000053.4(ATP7B):c.4022-2A>C	ATP7B	Single nucleotide variant (splice acceptor variant)	Wilson disease	GLikely pathogenic
Select item 1395731	NM_000053.4(ATP7B):c.4022-3C>T	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 3071375	NM_000053.4(ATP7B):c.4022-11T>C	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely benign
Select item 2157546	NM_000053.4(ATP7B):c.4021+5G>C	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance
Select item 526665	NM_000053.4(ATP7B):c.4021+3A>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 3073718	NM_000053.4(ATP7B):c.4016C>T (p.Ala1339Val)	ATP7B (A1058V +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance

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