"Genome-Nilou Lab"[submitter] AND "ATP7B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312343	NM_000053.4(ATP7B):c.*1782C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
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 1071568	NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs)	ATP7B (R1252fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 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 551073	NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	ATP7B (S1318fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
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 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 280040	NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)	ATP7B (Q1192fs +4 more)	Deletion (frameshift variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 1195964	NM_000053.4(ATP7B):c.4192T>A (p.Ser1398Thr)	ATP7B (S1191T +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
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 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 1162217	NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter)	ATP7B (E1175* +4 more)	Single nucleotide variant (nonsense)	Wilson disease +1 more	GPathogenic/Likely pathogenic
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 1162216	NM_000053.4(ATP7B):c.4125-1G>T	ATP7B	Single nucleotide variant (splice acceptor variant)	Wilson disease	GPathogenic
Select item 371170	NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)	ATP7B (Q1372* +4 more)	Single nucleotide variant (nonsense)	Wilson disease	GPathogenic
Select item 928973	NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)	ATP7B (L1164P +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 371438	NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	ATP7B (S1281fs +4 more)	Microsatellite (frameshift variant)	Wilson disease +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 188908	NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	ATP7B (S1363F +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 35729	NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	ATP7B (W1353* +4 more)	Single nucleotide variant (nonsense)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 188947	NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)	ATP7B (Q1351* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 665925	NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)	ATP7B (G1230D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1177539	NM_000053.4(ATP7B):c.4022-159G>C	ATP7B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 254770	NM_000053.4(ATP7B):c.4021+50G>C	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +2 more	GBenign
Select item 157955	NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)	ATP7B (G1341S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 552929	NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)	ATP7B (I1225fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 617988	NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)	ATP7B (Y1220fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 860819	NM_000053.4(ATP7B):c.3974del (p.Leu1325fs)	ATP7B (L1118fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 835275	NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)	ATP7B (R1209S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 35728	NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	ATP7B (R1319* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1210360	NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly)	ATP7B (S1103G +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 1069301	NM_000053.4(ATP7B):c.3904-2del	ATP7B	Deletion (splice acceptor variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 371387	NM_000053.4(ATP7B):c.3904-2A>G	ATP7B	Single nucleotide variant (splice acceptor variant)	Wilson disease +1 more	GPathogenic
Select item 35727	NM_000053.4(ATP7B):c.3903+6C>T	ATP7B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 917707	NM_000053.4(ATP7B):c.3895del (p.Ile1300fs)	ATP7B (I1222fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 189149	NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	ATP7B (L1299F +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 92389	NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)	ATP7B (V1297I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 161207	NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	ATP7B (D1296N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312378	NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 660004	NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)	ATP7B (A1088V +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 553585	NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)	ATP7B (E1293K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555278	NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del)	ATP7B	Deletion (inframe_deletion)	Wilson disease	GConflicting classifications of pathogenicity
Select item 556754	NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)	ATP7B (T1288R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 554964	NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)	ATP7B (T1288M +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 881762	NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	ATP7B (G1080S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 1162231	NM_000053.4(ATP7B):c.3845dup (p.Ala1283fs)	ATP7B (A1076fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic
Select item 958649	NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)	ATP7B (V1075fs +4 more)	Duplication (frameshift variant)	Wilson disease +1 more	GPathogenic
Select item 550301	NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)	ATP7B (G1281D +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 553495	NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)	ATP7B (D1279G +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 553360	NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	ATP7B (P1273Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 189139	NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	ATP7B (P1273L +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 3859	NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	ATP7B (N1270S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 3849	NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	ATP7B (G1266R +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 288242	NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550902	NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	ATP7B (V1262F +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 993505	NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs)	ATP7B (Q1049fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic
Select item 986313	NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter)	ATP7B (Q1049* +4 more)	Single nucleotide variant (nonsense)	Wilson disease	GPathogenic
Select item 1210362	NM_000053.4(ATP7B):c.3752del (p.Lys1251fs)	ATP7B (K1044fs +4 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 550125	NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	ATP7B (H1247Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 1195946	NM_000053.4(ATP7B):c.3727G>T (p.Val1243Leu)	ATP7B (V1036L +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 552915	NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)	ATP7B (A1241V +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 456557	NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)	ATP7B (V1239G +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 35726	NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe)	ATP7B (V1234F +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 555144	NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	ATP7B (T1232P +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 312379	NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	ATP7B (I1230V +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 632662	NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)	ATP7B (R1224L +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 282915	NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	ATP7B (D1222fs +4 more)	Deletion (frameshift variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 35725	NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	ATP7B (T1220M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 189015	NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)	ATP7B	Deletion (inframe_deletion)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 188859	NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	ATP7B (V1216M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1115119	NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GLikely benign
Select item 882913	NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 745331	NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 35724	NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)	ATP7B (H1207R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 850220	NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs)	ATP7B (A1086fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic
Select item 35723	NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 444317	NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)	ATP7B (A1195T +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 743704	NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 35722	NM_000053.4(ATP7B):c.3557-6C>T	ATP7B	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 764707	NM_000053.4(ATP7B):c.3557-8C>T	ATP7B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 189055	NM_000053.4(ATP7B):c.3556+1G>A	ATP7B	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188900	NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	ATP7B (G1186S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 977075	NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)	ATP7B (I1073T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 157952	NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)	ATP7B (A1183G +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 959197	NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)	ATP7B (T1094A +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 370427	NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	ATP7B (Q1177* +4 more)	Single nucleotide variant (nonsense)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 189050	NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	ATP7B (E1173K +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 810694	NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr)	ATP7B (A961T +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 157951	NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 997881	NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs)	ATP7B (G1047fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 282908	NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His)	ATP7B (R1156H +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 526656	NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)	ATP7B (N1039fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 37122	NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	ATP7B (I1148T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 370151	NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)	ATP7B (Q1142H +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 312380	NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	ATP7B (P1141R +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 35720	NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)	ATP7B (V1140A +4 more)	Single nucleotide variant (missense variant)	Wilson disease +3 more	GBenign
Select item 386708	NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +3 more	GConflicting classifications of pathogenicity

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