ATP7B[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882862	NM_000053.4(ATP7B):c.*355G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312372	NM_000053.4(ATP7B):c.*221C>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312374	NM_000053.4(ATP7B):c.*190C>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312373	NM_000053.4(ATP7B):c.*190C>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883654	NM_000053.4(ATP7B):c.*149G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312375	NM_000053.4(ATP7B):c.*148C>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 883655	NM_000053.4(ATP7B):c.*111G>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312376	NM_000053.4(ATP7B):c.*111G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883656	NM_000053.4(ATP7B):c.*34G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 618541	NM_000053.4(ATP7B):c.*23G>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GLikely benign
Select item 35734	NM_000053.4(ATP7B):c.*16G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 35733	NM_000053.4(ATP7B):c.*15C>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 2137506	NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)	ATP7B	Single nucleotide variant (stop lost)	Wilson disease	GUncertain significance
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 2415919	NM_000053.4(ATP7B):c.4389G>A (p.Gln1463=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
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 551139	NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter)	ATP7B (Q1463* +4 more)	Single nucleotide variant (nonsense)	Wilson disease	GUncertain significance
Select item 1630106	NM_000053.4(ATP7B):c.4386G>A (p.Glu1462=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2990457	NM_000053.4(ATP7B):c.4380T>C (p.Asp1460=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 663499	NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly)	ATP7B (D1253G +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 1071568	NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs)	ATP7B (R1252fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2743655	NM_000053.4(ATP7B):c.4373del (p.Gly1458fs)	ATP7B (G1028fs +28 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
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 2161078	NM_000053.4(ATP7B):c.4354_4357dup (p.Ser1453fs)	ATP7B (S1342fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic
Select item 2793157	NM_000053.4(ATP7B):c.4356G>A (p.Trp1452Ter)	ATP7B (W1245* +28 more)	Single nucleotide variant (nonsense)	Wilson disease	GPathogenic/Likely pathogenic
Select item 2846900	NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter)	ATP7B (W1309* +28 more)	Single nucleotide variant (nonsense)	Wilson disease	GPathogenic/Likely pathogenic
Select item 1714225	NM_000053.4(ATP7B):c.4348G>A (p.Asp1450Asn)	ATP7B (D1020N +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 2141189	NM_000053.4(ATP7B):c.4347G>A (p.Gly1449=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1590774	NM_000053.4(ATP7B):c.4344T>C (p.Asp1448=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 631704	NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)	ATP7B (D1336fs +4 more)	Duplication (frameshift variant)	Wilson disease	GConflicting classifications of pathogenicity
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 554091	NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs)	ATP7B (D1335fs +4 more)	Duplication (frameshift 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 1739796	NM_000053.4(ATP7B):c.4332A>G (p.Ala1444=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1384711	NM_000053.4(ATP7B):c.4327G>T (p.Ala1443Ser)	ATP7B (A1236S +4 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 557687	NM_000053.4(ATP7B):c.4325del (p.Ser1442fs)	ATP7B (S1358fs +4 more)	Deletion (frameshift variant)	Wilson disease	GUncertain significance
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 1115069	NM_000053.4(ATP7B):c.4323C>T (p.His1441=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 3068117	NM_000053.4(ATP7B):c.4319G>T (p.Arg1440Leu)	ATP7B (R1010L +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely benign
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 840191	NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro)	ATP7B (S1328P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1739652	NM_000053.4(ATP7B):c.4314A>G (p.Pro1438=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 35732	NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +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 2028439	NM_000053.4(ATP7B):c.4305C>G (p.Ser1435=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
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 35730	NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	ATP7B (T1434M +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2166696	NM_000053.4(ATP7B):c.4299del (p.Thr1434fs)	ATP7B (T1323fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
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)	Wilson disease +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 2915546	NM_000053.4(ATP7B):c.4290G>A (p.Leu1430=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2844301	NM_000053.4(ATP7B):c.4290G>C (p.Leu1430=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 439429	NM_000053.4(ATP7B):c.4290del (p.Ser1431fs)	ATP7B (S1320fs +4 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1414053	NM_000053.4(ATP7B):c.4288C>A (p.Leu1430Met)	ATP7B (L1223M +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1583594	NM_000053.4(ATP7B):c.4287G>C (p.Ser1429=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
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 1483860	NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu)	ATP7B (S1429L +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 1163062	NM_000053.4(ATP7B):c.4282_4285delinsATAA (p.Val1428_Ser1429delinsIleThr)	ATP7B	Indel (missense variant)	not provided	GUncertain significance
Select item 2155100	NM_000053.4(ATP7B):c.4284G>A (p.Val1428=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	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 2083232	NM_000053.4(ATP7B):c.4283T>C (p.Val1428Ala)	ATP7B (V1147A +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
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 1587053	NM_000053.4(ATP7B):c.4275C>T (p.Val1425=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
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 1104053	NM_000053.4(ATP7B):c.4272T>C (p.Tyr1424=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
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 1432001	NM_000053.4(ATP7B):c.4268G>A (p.Ser1423Asn)	ATP7B (S1216N +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1608225	NM_000053.4(ATP7B):c.4263G>A (p.Gln1421=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1451230	NM_000053.4(ATP7B):c.4258dup (p.Asp1420fs)	ATP7B (D1309fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic
Select item 3000101	NM_000053.4(ATP7B):c.4254A>G (p.Pro1418=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
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 2811704	NM_000053.4(ATP7B):c.4248C>A (p.Ala1416=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2698856	NM_000053.4(ATP7B):c.4238_4245del (p.Ser1413fs)	ATP7B (S1206fs +28 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
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 1641139	NM_000053.4(ATP7B):c.4242C>T (p.Pro1414=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 371337	NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)	ATP7B (R1208fs +4 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
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 2059118	NM_000053.4(ATP7B):c.4239C>T (p.Ser1413=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1091563	NM_000053.4(ATP7B):c.4236C>T (p.Asp1412=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign

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