ATP7B[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10715681.	NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs) GRCh37: Chr13:52508915-52508916 GRCh38: Chr13:51934779-51934780	ATP7B	R1252fs, R1348fs, R1375fs, R1381fs, R1459fs	Wilson disease, not provided	Pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21610782.	NM_000053.4(ATP7B):c.4354_4357dup (p.Ser1453fs) GRCh37: Chr13:52508932-52508933 GRCh38: Chr13:51934796-51934797	ATP7B	S1342fs, S1369fs, S1246fs, S1375fs, S1453fs	Wilson disease	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 21666963.	NM_000053.4(ATP7B):c.4299del (p.Thr1434fs) GRCh37: Chr13:52508991 GRCh38: Chr13:51934855	ATP7B	T1323fs, T1356fs, T1350fs, T1434fs, T1227fs	Wilson disease	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 5510734.	NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) GRCh37: Chr13:52509006-52509007 GRCh38: Chr13:51934870-51934871	ATP7B	S1318fs, S1351fs, S1222fs, S1345fs, S1429fs	Wilson disease	Pathogenic/Likely pathogenic (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14512305.	NM_000053.4(ATP7B):c.4258dup (p.Asp1420fs) GRCh37: Chr13:52509031-52509032 GRCh38: Chr13:51934895-51934896	ATP7B	D1309fs, D1213fs, D1420fs, D1342fs, D1336fs	Wilson disease	Pathogenic (Oct 31, 2021)	criteria provided, single submitter
Select item 3713376.	NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) GRCh37: Chr13:52509048 GRCh38: Chr13:51934912	ATP7B	R1208fs, R1304fs, R1337fs, R1415fs, R1331fs	Wilson disease	Likely pathogenic (Aug 30, 2016)	criteria provided, single submitter
Select item 21375077.	NM_000053.4(ATP7B):c.4230G>A (p.Trp1410Ter) GRCh37: Chr13:52509060 GRCh38: Chr13:51934924	ATP7B	W1183, W1194, W1216, W1332, W1345, W1365, W1408, W1129, W1246, W1248, W1351, W1378, W1399, W1410, W1203, W1267, W1297, W1299, W1300, W1314, W1326, W1349, W1362, W980, W1261, W1284, W1330, W1342, W1392*	Wilson disease	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 19291538.	NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter) GRCh37: Chr13:52509061 GRCh38: Chr13:51934925	ATP7B	W1203, W1284, W1332, W1378, W1194, W1216, W1300, W1326, W1351, W1410, W980, W1183, W1246, W1261, W1267, W1297, W1299, W1314, W1330, W1345, W1392, W1408, W1129, W1248, W1342, W1349, W1362, W1365, W1399*	Wilson disease	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 14562409.	NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter) GRCh37: Chr13:52509095 GRCh38: Chr13:51934959	ATP7B	Q1288, Q1321, Q1315, Q1192, Q1399*	Wilson disease	Pathogenic (Oct 27, 2022)	criteria provided, single submitter
Select item 28004010.	NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) GRCh37: Chr13:52509095 GRCh38: Chr13:51934959	ATP7B	Q1192fs, Q1288fs, Q1321fs, Q1399fs, Q1315fs	not provided, Wilson disease	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202060211.	NM_000053.4(ATP7B):c.4152dup (p.Glu1385Ter) GRCh37: Chr13:52509137-52509138 GRCh38: Chr13:51935001-51935002	ATP7B	E1301, E1274, E1307, E1385, E1178*	Wilson disease	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 55344912.	NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) GRCh37: Chr13:52509139-52509140 GRCh38: Chr13:51935003-51935004	ATP7B	Y1177fs, Y1306fs, Y1384fs, Y1273fs, Y1300fs	Wilson disease	Likely pathogenic (Sep 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116221713.	NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter) GRCh37: Chr13:52509146 GRCh38: Chr13:51935010	ATP7B	E1175, E1271, E1298, E1304, E1382*	Wilson disease	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116221614.	NM_000053.4(ATP7B):c.4125-1G>T GRCh37: Chr13:52509166 GRCh38: Chr13:51935030	ATP7B		Wilson disease	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92874315.	NM_000053.4(ATP7B):c.4125-1G>C GRCh37: Chr13:52509166 GRCh38: Chr13:51935030	ATP7B		Wilson disease	Likely pathogenic (Jun 17, 2019)	criteria provided, single submitter
Select item 203523916.	NM_000053.4(ATP7B):c.4124+1G>A GRCh37: Chr13:52509728 GRCh38: Chr13:51935592	ATP7B		Wilson disease	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 37117017.	NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) GRCh37: Chr13:52509739 GRCh38: Chr13:51935603	ATP7B	Q1372, Q1294, Q1261, Q1288, Q1165*	Wilson disease	Pathogenic (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92897318.	NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) GRCh37: Chr13:52509741 GRCh38: Chr13:51935605	ATP7B	L1164P, L1260P, L1287P, L1293P, L1371P	Wilson disease	Pathogenic/Likely pathogenic (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213750819.	NM_000053.4(ATP7B):c.4093dup (p.Ser1365fs) GRCh37: Chr13:52509759-52509760 GRCh38: Chr13:51935623-51935624	ATP7B	S1254fs, S1365fs, S1281fs, S1158fs, S1287fs	Wilson disease	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 37143820.	NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) GRCh37: Chr13:52509760-52509761 GRCh38: Chr13:51935624-51935625	ATP7B	S1281fs, S1158fs, S1365fs, S1254fs, S1287fs	Wilson disease, not provided	Pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18890821.	NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) GRCh37: Chr13:52509765 GRCh38: Chr13:51935629	ATP7B	S1363F, S1156F, S1252F, S1279F, S1285F	Wilson disease	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147996322.	NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val) GRCh37: Chr13:52509778 GRCh38: Chr13:51935642	ATP7B	M1248V, M1275V, M1359V, M1152V, M1281V	Wilson disease	Likely pathogenic (Sep 29, 2021)	criteria provided, single submitter
Select item 3572923.	NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) GRCh37: Chr13:52509795 GRCh38: Chr13:51935659	ATP7B	W1353, W1242, W1269, W1146, W1275*	Wilson disease, not provided	Pathogenic/Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18894724.	NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) GRCh37: Chr13:52509802 GRCh38: Chr13:51935666	ATP7B	Q1351, Q1144, Q1240, Q1267, Q1273*	not provided, Wilson disease	Pathogenic (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148848525.	NM_000053.4(ATP7B):c.4022G>T (p.Gly1341Val) GRCh37: Chr13:52509831 GRCh38: Chr13:51935695	ATP7B	G1263V, G1341V, G1230V, G1257V, G1134V	Wilson disease	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 66592526.	NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) GRCh37: Chr13:52509831 GRCh38: Chr13:51935695	ATP7B	G1230D, G1257D, G1134D, G1263D, G1341D	Wilson disease	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55370927.	NM_000053.4(ATP7B):c.4022-2A>C GRCh37: Chr13:52509833 GRCh38: Chr13:51935697	ATP7B		Wilson disease	Likely pathogenic (Sep 5, 2017)	criteria provided, single submitter
Select item 66174828.	NC_000013.11:g.(?_51937256)_(51939213_?)del GRCh37: Chr13:52511392-52513349 GRCh38: Chr13:51937256-51939213	ATP7B		Wilson disease	Likely pathogenic (Nov 28, 2018)	criteria provided, single submitter
Select item 241709529.	NM_000053.4(ATP7B):c.4021+1G>A GRCh37: Chr13:52511411 GRCh38: Chr13:51937275	ATP7B		Wilson disease	Pathogenic (Aug 31, 2020)	criteria provided, single submitter
Select item 15795530.	NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) GRCh37: Chr13:52511412 GRCh38: Chr13:51937276	ATP7B	G1341S, G1134S, G1230S, G1257S, G1263S	Wilson disease	Pathogenic/Likely pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 202696631.	NM_000053.4(ATP7B):c.4011del (p.Ile1338fs) GRCh37: Chr13:52511422 GRCh38: Chr13:51937286	ATP7B	I1131fs, I1254fs, I1227fs, I1260fs, I1338fs	Wilson disease	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 55292932.	NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) GRCh37: Chr13:52511427 GRCh38: Chr13:51937291	ATP7B	I1225fs, I1258fs, I1129fs, I1252fs, I1336fs	Wilson disease	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 61798833.	NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) GRCh37: Chr13:52511440-52511443 GRCh38: Chr13:51937304-51937307	ATP7B	Y1220fs, Y1247fs, Y1331fs, Y1124fs, Y1253fs	not provided, Wilson disease	Pathogenic/Likely pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86081934.	NM_000053.4(ATP7B):c.3974del (p.Leu1325fs) GRCh37: Chr13:52511459 GRCh38: Chr13:51937323	ATP7B	L1118fs, L1214fs, L1241fs, L1247fs, L1325fs	Wilson disease	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123617335.	NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) GRCh37: Chr13:52511462 GRCh38: Chr13:51937326	ATP7B	N1117S, N1213S, N1240S, N1246S, N1324S	Wilson disease	Likely pathogenic	criteria provided, single submitter
Select item 141648736.	NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs) GRCh37: Chr13:52511468-52511469 GRCh38: Chr13:51937332-51937333	ATP7B	R1211fs, R1322fs, R1115fs, R1238fs, R1244fs	Wilson disease	Pathogenic (Jun 24, 2021)	criteria provided, single submitter
Select item 83527537.	NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser) GRCh37: Chr13:52511473 GRCh38: Chr13:51937337	ATP7B	R1209S, R1236S, R1242S, R1113S, R1320S	Wilson disease	Pathogenic/Likely pathogenic (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147901238.	NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) GRCh37: Chr13:52511474 GRCh38: Chr13:51937338	ATP7B	R1113T, R1242T, R1320T, R1209T, R1236T	Wilson disease	Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148420239.	NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly) GRCh37: Chr13:52511475 GRCh38: Chr13:51937339	ATP7B	R1113G, R1209G, R1236G, R1242G, R1320G	Wilson disease	Likely pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 3572840.	NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) GRCh37: Chr13:52511478 GRCh38: Chr13:51937342	ATP7B	R1319, R1112, R1208, R1235, R1241*	Inborn genetic diseases, not provided, Wilson disease	Pathogenic (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37009341.	NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) GRCh37: Chr13:52511485 GRCh38: Chr13:51937349	ATP7B	T1233fs, T1239fs, T1206fs, T1317fs, T1110fs	Wilson disease	Likely pathogenic (Nov 18, 2015)	criteria provided, single submitter
Select item 37009242.	NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) GRCh37: Chr13:52511490-52511491 GRCh38: Chr13:51937354-51937355	ATP7B	K1108fs, K1204fs, K1231fs, K1237fs, K1315fs	Wilson disease	Likely pathogenic (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172416443.	NM_000053.4(ATP7B):c.3935_3936del (p.His1312fs) GRCh37: Chr13:52511497-52511498 GRCh38: Chr13:51937361-51937362	ATP7B	H1105fs, H1201fs, H1228fs, H1234fs, H1312fs	Wilson disease	Likely pathogenic (Nov 7, 2021)	criteria provided, single submitter
Select item 201049444.	NM_000053.4(ATP7B):c.3914_3918dup (p.Val1307fs) GRCh37: Chr13:52511514-52511515 GRCh38: Chr13:51937378-51937379	ATP7B	V1196fs, V1223fs, V1229fs, V1100fs, V1307fs	Wilson disease	Pathogenic (Jul 2, 2022)	criteria provided, single submitter
Select item 58292245.	NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) GRCh37: Chr13:52511519 GRCh38: Chr13:51937383	ATP7B	L1305P, L1221P, L1194P, L1227P, L1098P	Wilson disease	Pathogenic (Jun 17, 2022)	criteria provided, single submitter
Select item 52665746.	NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) GRCh37: Chr13:52511520-52511521 GRCh38: Chr13:51937384-51937385	ATP7B	L1304F, L1220F, L1097F, L1226F, L1193F	Wilson disease	Likely pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 213751147.	NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe) GRCh37: Chr13:52511521 GRCh38: Chr13:51937385	ATP7B	L1193F, L1224F, L1239F, L1272F, L1293F, L874F, L1023F, L1088F, L1161F, L1194F, L1243F, L1256F, L1286F, L1110F, L1142F, L1178F, L1208F, L1236F, L1245F, L1259F, L1077F, L1097F, L1191F, L1220F, L1226F, L1302F, L1304F, L1140F, L1155F	Wilson disease	Likely pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 106930148.	NM_000053.4(ATP7B):c.3904-2del GRCh37: Chr13:52511531 GRCh38: Chr13:51937395	ATP7B		Wilson disease	Pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37138749.	NM_000053.4(ATP7B):c.3904-2A>G GRCh37: Chr13:52511531 GRCh38: Chr13:51937395	ATP7B		Wilson disease, not provided	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91770750.	NM_000053.4(ATP7B):c.3895del (p.Ile1300fs) GRCh37: Chr13:52511620 GRCh38: Chr13:51937484	ATP7B	I1222fs, I1093fs, I1189fs, I1216fs, I1300fs	Wilson disease	Pathogenic (Oct 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18914951.	NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) GRCh37: Chr13:52511620 GRCh38: Chr13:51937484	ATP7B	L1299F, L1221F, L1092F, L1188F, L1215F	Wilson disease	Pathogenic/Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 385452.	NM_000053.4(ATP7B):c.3889GTC[1] (p.Val1298del) GRCh37: Chr13:52511621-52511623 GRCh38: Chr13:51937485-51937487	ATP7B	V1091del, V1187del, V1214del, V1220del, V1298del	Wilson disease	Pathogenic (Jan 1, 2000)	no assertion criteria provided
Select item 145987653.	NM_000053.4(ATP7B):c.3883_3890del (p.Ala1295fs) GRCh37: Chr13:52511625-52511632 GRCh38: Chr13:51937489-51937496	ATP7B	A1211fs, A1295fs, A1088fs, A1217fs, A1184fs	Wilson disease	Pathogenic (Aug 18, 2021)	criteria provided, single submitter
Select item 80299354.	NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) GRCh37: Chr13:52511628 GRCh38: Chr13:51937492	ATP7B	D1089G, D1296G, D1212G, D1185G, D1218G	Wilson disease	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 66000455.	NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) GRCh37: Chr13:52511631 GRCh38: Chr13:51937495	ATP7B	A1088V, A1184V, A1211V, A1217V, A1295V	Wilson disease	Pathogenic/Likely pathogenic (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138063756.	NM_000053.4(ATP7B):c.3835_3862dup (p.Thr1288fs) GRCh37: Chr13:52511652-52511653 GRCh38: Chr13:51937516-51937517	ATP7B	T1081fs, T1288fs, T1177fs, T1204fs, T1210fs	Wilson disease	Pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 106617257.	NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala) GRCh37: Chr13:52511653 GRCh38: Chr13:51937517	ATP7B	T1081A, T1177A, T1204A, T1210A, T1288A	Wilson disease	Likely pathogenic (Oct 31, 2021)	criteria provided, single submitter
Select item 116223158.	NM_000053.4(ATP7B):c.3845dup (p.Ala1283fs) GRCh37: Chr13:52511669-52511670 GRCh38: Chr13:51937533-51937534	ATP7B	A1076fs, A1172fs, A1199fs, A1205fs, A1283fs	Wilson disease	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95864959.	NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) GRCh37: Chr13:52511671-52511672 GRCh38: Chr13:51937535-51937536	ATP7B	V1075fs, V1198fs, V1204fs, V1171fs, V1282fs	Wilson disease	Pathogenic (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116223060.	NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr) GRCh37: Chr13:52511695 GRCh38: Chr13:51937559	ATP7B	A1067T, A1163T, A1190T, A1196T, A1274T	Wilson disease	Likely pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 55336061.	NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) GRCh37: Chr13:52511697 GRCh38: Chr13:51937561	ATP7B	P1273Q, P1195Q, P1066Q, P1162Q, P1189Q	Wilson disease	Pathogenic/Likely pathogenic (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18913962.	NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) GRCh37: Chr13:52511697 GRCh38: Chr13:51937561	ATP7B	P1273L, P1189L, P1195L, P1066L, P1162L	not provided, Wilson disease	Pathogenic/Likely pathogenic (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 168525163.	NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile) GRCh37: Chr13:52511706 GRCh38: Chr13:51937570	ATP7B	N1063I, N1159I, N1186I, N1192I, N1270I	Wilson disease	Likely pathogenic (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55053164.	NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) GRCh37: Chr13:52511706 GRCh38: Chr13:51937570	ATP7B	N1192fs, N1063fs, N1159fs, N1270fs, N1186fs	Wilson disease	Likely pathogenic (Jan 30, 2017)	criteria provided, single submitter
Select item 385965.	NM_000053.3(ATP7B):c.3809A>G GRCh37: Chr13:52511706 GRCh38: Chr13:51937570	ATP7B	N1270S, N1186S, N1063S, N1192S, N1159S	Inborn genetic diseases, not provided, Wilson disease	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132395466.	NM_000053.4(ATP7B):c.3805dup (p.Val1269fs) GRCh37: Chr13:52511709-52511710 GRCh38: Chr13:51937573-51937574	ATP7B	V1062fs, V1158fs, V1185fs, V1191fs, V1269fs	Wilson disease	Pathogenic (Mar 15, 2020)	criteria provided, single submitter
Select item 55241767.	NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) GRCh37: Chr13:52511715 GRCh38: Chr13:51937579	ATP7B	D1267A, D1156A, D1183A, D1060A, D1189A	Wilson disease	Likely pathogenic (Jun 9, 2017)	criteria provided, single submitter
Select item 37074968.	NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) GRCh37: Chr13:52511715 GRCh38: Chr13:51937579	ATP7B	D1156fs, D1267fs, D1183fs, D1060fs, D1189fs	Wilson disease	Likely pathogenic (Apr 5, 2016)	criteria provided, single submitter
Select item 384969.	NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) GRCh37: Chr13:52511719 GRCh38: Chr13:51937583	ATP7B	G1266R, G1059R, G1155R, G1182R, G1188R	not provided, Wilson disease	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172552570.	NM_000053.4(ATP7B):c.3782_3791del (p.Lys1261fs) GRCh37: Chr13:52511724-52511733 GRCh38: Chr13:51937588-51937597	ATP7B	K1054fs, K1150fs, K1177fs, K1183fs, K1261fs	Wilson disease	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 55090271.	NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) GRCh37: Chr13:52511731 GRCh38: Chr13:51937595	ATP7B	V1262F, V1055F, V1151F, V1184F, V1178F	Wilson disease	Pathogenic/Likely pathogenic (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141771572.	NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter) GRCh37: Chr13:52511743 GRCh38: Chr13:51937607	ATP7B	K1051, K1147, K1180, K1174, K1258*	Wilson disease	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 99350573.	NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs) GRCh37: Chr13:52511747-52511748 GRCh38: Chr13:51937611-51937612	ATP7B	Q1049fs, Q1145fs, Q1172fs, Q1178fs, Q1256fs	Wilson disease	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98631374.	NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter) GRCh37: Chr13:52511749 GRCh38: Chr13:51937613	ATP7B	Q1049, Q1145, Q1172, Q1178, Q1256*	Wilson disease	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 172498575.	NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter) GRCh37: Chr13:52511758 GRCh38: Chr13:51937622	ATP7B	Q1026, Q1037, Q1046, Q1059, Q1089, Q1091, Q1104, Q1110, Q1127, Q1140, Q1142, Q1143, Q1157, Q1169, Q1173, Q1175, Q1188, Q1192, Q1194, Q1205, Q1208, Q1221, Q1235, Q1242, Q1251, Q1253, Q823, Q972	Wilson disease	Likely pathogenic (Nov 26, 2021)	criteria provided, single submitter
Select item 121036276.	NM_000053.4(ATP7B):c.3752del (p.Lys1251fs) GRCh37: Chr13:52511763 GRCh38: Chr13:51937627	ATP7B	K1044fs, K1140fs, K1167fs, K1173fs, K1251fs	Wilson disease	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 145604577.	NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs) GRCh37: Chr13:52511772-52511773 GRCh38: Chr13:51937636-51937637	ATP7B	K1041fs, K1137fs, K1164fs, K1170fs, K1248fs	Wilson disease	Pathogenic (Jan 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 172530078.	NM_000053.4(ATP7B):c.3741_3742del (p.His1247fs) GRCh37: Chr13:52511773-52511774 GRCh38: Chr13:51937637-51937638	ATP7B	H1040fs, H1136fs, H1163fs, H1169fs, H1247fs	Wilson disease	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 201903579.	NM_000053.4(ATP7B):c.3727del (p.Val1243fs) GRCh37: Chr13:52511788 GRCh38: Chr13:51937652	ATP7B	V1159fs, V1132fs, V1165fs, V1243fs, V1036fs	Wilson disease	Pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 55291580.	NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) GRCh37: Chr13:52511793 GRCh38: Chr13:51937657	ATP7B	A1241V, A1130V, A1163V, A1034V, A1157V	Wilson disease	Pathogenic/Likely pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 172463081.	NM_000053.4(ATP7B):c.3707del (p.Ile1236fs) GRCh37: Chr13:52511808 GRCh38: Chr13:51937672	ATP7B	I1029fs, I1125fs, I1152fs, I1158fs, I1236fs	Wilson disease	Likely pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 91615682.	NC_000013.11:g.51937680del GRCh37: Chr13:52511815 GRCh38: Chr13:51937679	ATP7B		not provided	Pathogenic (Apr 1, 2020)	criteria provided, single submitter
Select item 54994183.	NM_000053.4(ATP7B):c.3700-1G>A GRCh37: Chr13:52511816 GRCh38: Chr13:51937680	ATP7B		Wilson disease	Likely pathogenic (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91813484.	NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer) GRCh37: Chr13:52513189-52513193 GRCh38: Chr13:51939053-51939057	ATP7B		Wilson disease	Likely pathogenic (Mar 4, 2020)	criteria provided, single submitter
Select item 55514485.	NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) GRCh37: Chr13:52513192 GRCh38: Chr13:51939056	ATP7B	T1232P, T1148P, T1025P, T1121P, T1154P	Wilson disease	Pathogenic/Likely pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91772886.	NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Ala1231_Thr1232insLeuValHisTer) GRCh37: Chr13:52513193 GRCh38: Chr13:51939057	ATP7B		Wilson disease	Likely pathogenic (Feb 27, 2020)	criteria provided, single submitter
Select item 142572287.	NM_000053.4(ATP7B):c.3691del (p.Ala1231fs) GRCh37: Chr13:52513195 GRCh38: Chr13:51939059	ATP7B	A1120fs, A1147fs, A1231fs, A1024fs, A1153fs	Wilson disease	Pathogenic (Oct 27, 2021)	criteria provided, single submitter
Select item 149754488.	NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu) GRCh37: Chr13:52513198 GRCh38: Chr13:51939062	ATP7B	I1146L, I1119L, I1230L, I1023L, I1152L	Wilson disease	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 145891089.	NM_000053.4(ATP7B):c.3668_3674del (p.Asn1223fs) GRCh37: Chr13:52513212-52513218 GRCh38: Chr13:51939076-51939082	ATP7B	N1139fs, N1112fs, N1145fs, N1016fs, N1223fs	Wilson disease	Pathogenic (Oct 9, 2021)	criteria provided, single submitter
Select item 244203490.	NM_000053.4(ATP7B):c.3665del (p.Asp1222fs) GRCh37: Chr13:52513221 GRCh38: Chr13:51939085	ATP7B	D1015fs, D1111fs, D1138fs, D1144fs, D1222fs	Wilson disease	Likely pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 141520291.	NM_000053.4(ATP7B):c.3664dup (p.Asp1222fs) GRCh37: Chr13:52513221-52513222 GRCh38: Chr13:51939085-51939086	ATP7B	D1111fs, D1144fs, D1015fs, D1222fs, D1138fs	Wilson disease	Pathogenic (Mar 22, 2021)	criteria provided, single submitter
Select item 167552592.	NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn) GRCh37: Chr13:52513222 GRCh38: Chr13:51939086	ATP7B	D1015N, D1111N, D1138N, D1144N, D1222N	not provided	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 28291593.	NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) GRCh37: Chr13:52513222 GRCh38: Chr13:51939086	ATP7B	D1222fs, D1015fs, D1138fs, D1111fs, D1144fs	not provided, Wilson disease	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55233794.	NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) GRCh37: Chr13:52513224 GRCh38: Chr13:51939088	ATP7B	G1221E, G1143E, G1014E, G1110E, G1137E	Wilson disease	Likely pathogenic (Jun 7, 2017)	criteria provided, single submitter
Select item 3572595.	NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) GRCh37: Chr13:52513227 GRCh38: Chr13:51939091	ATP7B	T1220M, T1142M, T1013M, T1136M, T1109M	not provided, Wilson disease	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18901596.	NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) GRCh37: Chr13:52513232-52513237 GRCh38: Chr13:51939096-51939101	ATP7B		not provided, Wilson disease	Pathogenic/Likely pathogenic (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18885997.	NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) GRCh37: Chr13:52513240 GRCh38: Chr13:51939104	ATP7B	V1216M, V1105M, V1132M, V1138M, V1009M	not provided, Wilson disease	Pathogenic/Likely pathogenic (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116222998.	NM_000053.4(ATP7B):c.3627_3632del (p.Gln1210_Ser1211del) GRCh37: Chr13:52513254-52513259 GRCh38: Chr13:51939118-51939123	ATP7B		Wilson disease	Likely pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 18905699.	NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) GRCh37: Chr13:52513288 GRCh38: Chr13:51939152	ATP7B	Q1200, Q1089, Q993, Q1116, Q1122*	Wilson disease	Pathogenic/Likely pathogenic (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 850220100.	NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs) GRCh37: Chr13:52513297-52513298 GRCh38: Chr13:51939161-51939162	ATP7B	A1086fs, A1119fs, A1113fs, A1197fs, A990fs	Wilson disease	Pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts

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