ClinVar for MedGen (Select 42426) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 2043

<< First< Prev

Page of 21

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25765401.	NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=) GRCh37: Chr13:52511419 GRCh38: Chr13:51937283	ATP7B		Wilson disease	Likely pathogenic	criteria provided, single submitter
Select item 25752352.	NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr) GRCh37: Chr13:52516611 GRCh38: Chr13:51942475	ATP7B	N1012T, N1024T, N1028T, N1030T, N1043T, N1047T, N1049T, N1060T, N1063T, N1076T, N1090T, N1097T, N1106T, N1108T, N678T, N827T, N881T, N892T, N901T, N914T, N946T, N959T, N965T, N992T, N995T, N997T, N998T	Wilson disease	Uncertain significance (May 19, 2023)	criteria provided, single submitter
Select item 25734583.	NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del) GRCh37: Chr13:52524150-52524176 GRCh38: Chr13:51950014-51950040	ATP7B		Wilson disease	Pathogenic (Jun 20, 2023)	criteria provided, single submitter
Select item 25725614.	NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys) GRCh37: Chr13:52524239 GRCh38: Chr13:51950103	ATP7B	N448K, N662K, N684K, N716K, N735K, N762K, N767K, N768K, N794K, N798K, N800K, N819K, N830K, N846K, N867K, N878K	Wilson disease	Uncertain significance	criteria provided, single submitter
Select item 25724925.	NM_000053.4(ATP7B):c.3227C>T (p.Thr1076Ile) GRCh37: Chr13:52518261 GRCh38: Chr13:51944125	ATP7B	T1011I, T1017I, T1028I, T1031I, T1044I, T1058I, T1065I, T1074I, T1076I, T646I, T795I, T849I, T860I, T869I, T882I, T914I, T927I, T933I, T960I, T963I, T965I, T966I, T980I, T992I, T996I, T998I	Wilson disease	Likely pathogenic	criteria provided, single submitter
Select item 25724776.	NM_000053.4(ATP7B):c.3812A>G (p.Asp1271Gly) GRCh37: Chr13:52511703 GRCh38: Chr13:51937567	ATP7B	D1044G, D1055G, D1064G, D1077G, D1107G, D1109G, D1122G, D1128G, D1145G, D1158G, D1160G, D1161G, D1175G, D1187G, D1191G, D1193G, D1206G, D1210G, D1212G, D1223G, D1226G, D1239G, D1253G, D1260G, D1269G, D1271G, D841G, D990G	Wilson disease	Uncertain significance	criteria provided, single submitter
Select item 25051727.	NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu) GRCh37: Chr13:52524205 GRCh38: Chr13:51950069	ATP7B	V460L, V674L, V696L, V728L, V747L, V774L, V779L, V780L, V806L, V810L, V812L, V831L, V842L, V858L, V879L, V890L	Wilson disease	Likely pathogenic	criteria provided, single submitter
Select item 25039878.	NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs) GRCh37: Chr13:52511678-52511679 GRCh38: Chr13:51937542-51937543	ATP7B	D1052fs, D1063fs, D1072fs, D1085fs, D1115fs, D1117fs, D1130fs, D1136fs, D1153fs, D1166fs, D1168fs, D1169fs, D1183fs, D1195fs, D1199fs, D1201fs, D1214fs, D1218fs, D1220fs, D1231fs, D1234fs, D1247fs, D1261fs, D1268fs, D1277fs, D1279fs, D849fs, D998fs	Wilson disease	Likely pathogenic (Apr 12, 2023)	criteria provided, single submitter
Select item 25017049.	NM_000053.4(ATP7B):c.3550dup (p.Ile1184fs) GRCh37: Chr13:52515222-52515223 GRCh38: Chr13:51941086-51941087	ATP7B	I1022fs, I1035fs, I1041fs, I1071fs, I1073fs, I1074fs, I1088fs, I1100fs, I1104fs, I1106fs, I1119fs, I1123fs, I1125fs, I1136fs, I1139fs, I1152fs, I1166fs, I1173fs, I1182fs, I1184fs, I754fs, I903fs, I957fs, I968fs, I977fs, I990fs	Wilson disease	Likely pathogenic	criteria provided, single submitter
Select item 250117310.	NM_000053.4(ATP7B):c.2356-2A>T GRCh37: Chr13:52531745 GRCh38: Chr13:51957609	ATP7B		Wilson disease	Likely pathogenic (Mar 31, 2023)	criteria provided, single submitter
Select item 244203411.	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 243939512.	NM_000053.4(ATP7B):c.2543G>A (p.Gly848Asp) GRCh37: Chr13:52524440 GRCh38: Chr13:51950304	ATP7B	G632D, G654D, G686D, G705D, G732D, G737D, G738D, G764D, G768D, G770D, G789D, G800D, G816D, G837D, G848D	Wilson disease	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 243610313.	NM_000053.4(ATP7B):c.2152delinsTCC (p.Ala718fs) GRCh37: Chr13:52532650 GRCh38: Chr13:51958514	ATP7B	A607fs, A634fs, A718fs	Wilson disease	Likely pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 243600214.	NM_000053.4(ATP7B):c.3190dup (p.Glu1064fs) GRCh37: Chr13:52518297-52518298 GRCh38: Chr13:51944161-51944162	ATP7B	E1064fs, E857fs, E953fs, E980fs, E986fs	Wilson disease	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 243591315.	NM_000053.4(ATP7B):c.3458G>A (p.Trp1153Ter) GRCh37: Chr13:52515315 GRCh38: Chr13:51941179	ATP7B	W1004, W1010, W1040, W1042, W1043, W1057, W1069, W1073, W1075, W1088, W1092, W1094, W1105, W1108, W1121, W1135, W1142, W1151, W1153, W723, W872, W926, W937, W946, W959, W991	Wilson disease	Likely pathogenic (Mar 7, 2022)	criteria provided, single submitter
Select item 242865716.	NM_000053.4(ATP7B):c.1543+4A>G GRCh37: Chr13:52544624 GRCh38: Chr13:51970488	ATP7B		Wilson disease	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 242852617.	NM_000053.4(ATP7B):c.1707+17C>A GRCh37: Chr13:52542563 GRCh38: Chr13:51968427	ATP7B		Wilson disease	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 242738618.	NM_000053.4(ATP7B):c.3199A>G (p.Ser1067Gly) GRCh37: Chr13:52518289 GRCh38: Chr13:51944153	ATP7B	S1002G, S1008G, S1019G, S1022G, S1035G, S1049G, S1056G, S1065G, S1067G, S637G, S786G, S840G, S851G, S860G, S873G, S905G, S918G, S924G, S951G, S954G, S956G, S957G, S971G, S983G, S987G, S989G	Wilson disease	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 242235819.	NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala) GRCh37: Chr13:52549102 GRCh38: Chr13:51974966	ATP7B	G53A, G85A	Wilson disease	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 242225320.	NC_000013.10:g.(?_51484213)_(52602726_?)dup GRCh37: Chr13:51484213-52602726	RNASEH2B, WDFY2, DHRS12, CCDC70, SERPINE3, INTS6, FAM124A, UTP14C, ATP7B, ALG11		Wilson disease	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 242225221.	NC_000013.10:g.(?_52508892)_(52585473_?)del GRCh37: Chr13:52508892-52585473	ATP7B		Wilson disease	Pathogenic (Sep 5, 2022)	criteria provided, single submitter
Select item 242225122.	NC_000013.10:g.(?_52511432)_(52514936_?)del GRCh37: Chr13:52511432-52514936	ATP7B		Wilson disease	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 242225023.	NC_000013.10:g.(?_52548990)_(52552030_?)del GRCh37: Chr13:52548990-52552030	ATP7B		Wilson disease	Pathogenic (Sep 5, 2021)	criteria provided, single submitter
Select item 242224924.	NC_000013.10:g.(?_52531632)_(52532700_?)del GRCh37: Chr13:52531632-52532700	ATP7B		Wilson disease	Pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 242224825.	NC_000013.10:g.(?_52516512)_(52516700_?)del GRCh37: Chr13:52516512-52516700	ATP7B		Wilson disease	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 242179126.	NM_000053.4(ATP7B):c.3557-12G>T GRCh37: Chr13:52513341 GRCh38: Chr13:51939205	ATP7B		Wilson disease	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 242154727.	NM_000053.4(ATP7B):c.441C>G (p.Leu147=) GRCh37: Chr13:52548915 GRCh38: Chr13:51974779	ATP7B		Wilson disease	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 242039728.	NM_000053.4(ATP7B):c.579G>A (p.Gln193=) GRCh37: Chr13:52548777 GRCh38: Chr13:51974641	ATP7B		Wilson disease	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 242039029.	NM_000053.4(ATP7B):c.2873A>G (p.Asn958Ser) GRCh37: Chr13:52520607 GRCh38: Chr13:51946471	ATP7B	N528S, N742S, N751S, N764S, N796S, N815S, N842S, N847S, N848S, N862S, N874S, N878S, N880S, N899S, N910S, N913S, N926S, N940S, N947S, N958S	Wilson disease	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 241997130.	NM_000053.4(ATP7B):c.2215A>G (p.Ile739Val) GRCh37: Chr13:52532587 GRCh38: Chr13:51958451	ATP7B	I596V, I623V, I628V, I655V, I707V, I728V, I739V	Wilson disease	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 241904431.	NM_000053.4(ATP7B):c.2204T>G (p.Leu735Arg) GRCh37: Chr13:52532598 GRCh38: Chr13:51958462	ATP7B	L592R, L619R, L624R, L651R, L703R, L724R, L735R	Wilson disease	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 241904232.	NM_000053.4(ATP7B):c.3089G>T (p.Gly1030Val) GRCh37: Chr13:52518399 GRCh38: Chr13:51944263	ATP7B	G1012V, G1019V, G1028V, G1030V, G600V, G749V, G803V, G814V, G823V, G836V, G868V, G881V, G887V, G914V, G917V, G919V, G920V, G934V, G946V, G950V, G952V, G965V, G971V, G982V, G985V, G998V	Wilson disease	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 241889033.	NM_000053.4(ATP7B):c.4094C>T (p.Ser1365Phe) GRCh37: Chr13:52509759 GRCh38: Chr13:51935623	ATP7B	S1084F, S1138F, S1149F, S1158F, S1171F, S1201F, S1203F, S1216F, S1222F, S1239F, S1252F, S1254F, S1255F, S1269F, S1281F, S1285F, S1287F, S1297F, S1300F, S1304F, S1306F, S1317F, S1320F, S1333F, S1347F, S1354F, S1363F, S1365F, S935F	Wilson disease	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 241883734.	NM_000053.4(ATP7B):c.2139C>T (p.Tyr713=) GRCh37: Chr13:52532663 GRCh38: Chr13:51958527	ATP7B		Wilson disease	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 241782635.	NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly) GRCh37: Chr13:52548991 GRCh38: Chr13:51974855	ATP7B	E122G, E90G	Wilson disease	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 241759936.	NM_000053.4(ATP7B):c.3507G>A (p.Met1169Ile) GRCh37: Chr13:52515266 GRCh38: Chr13:51941130	ATP7B	M1007I, M1020I, M1026I, M1056I, M1058I, M1059I, M1073I, M1085I, M1089I, M1091I, M1104I, M1108I, M1110I, M1121I, M1124I, M1137I, M1151I, M1158I, M1167I, M1169I, M739I, M888I, M942I, M953I, M962I, M975I	Wilson disease	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 241716337.	NM_000053.4(ATP7B):c.2663C>T (p.Thr888Ile) GRCh37: Chr13:52524210 GRCh38: Chr13:51950074	ATP7B	T458I, T672I, T694I, T726I, T745I, T772I, T777I, T778I, T804I, T808I, T810I, T829I, T840I, T856I, T877I, T888I	Wilson disease	Likely pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 241709538.	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 241653739.	NM_000053.4(ATP7B):c.1839C>G (p.Ile613Met) GRCh37: Chr13:52539038 GRCh38: Chr13:51964902	ATP7B	I470M, I502M, I581M, I602M, I613M	Wilson disease	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 241591940.	NM_000053.4(ATP7B):c.4389G>A (p.Gln1463=) GRCh37: Chr13:52508901 GRCh38: Chr13:51934765	ATP7B		Wilson disease	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 241562341.	NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys) GRCh37: Chr13:52515339 GRCh38: Chr13:51941203	ATP7B	S1002C, S1032C, S1034C, S1035C, S1049C, S1061C, S1065C, S1067C, S1080C, S1084C, S1086C, S1097C, S1100C, S1113C, S1127C, S1134C, S1143C, S1145C, S715C, S864C, S918C, S929C, S938C, S951C, S983C, S996C	Wilson disease	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 241561142.	NM_000053.4(ATP7B):c.3090C>T (p.Gly1030=) GRCh37: Chr13:52518398 GRCh38: Chr13:51944262	ATP7B		Wilson disease	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 241470143.	NM_000053.4(ATP7B):c.1620C>G (p.Leu540=) GRCh37: Chr13:52542667 GRCh38: Chr13:51968531	ATP7B		Wilson disease	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 241450544.	NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met) GRCh37: Chr13:52509103 GRCh38: Chr13:51934967	ATP7B	T1115M, T1169M, T1180M, T1189M, T1202M, T1232M, T1234M, T1247M, T1253M, T1270M, T1283M, T1285M, T1286M, T1300M, T1312M, T1316M, T1318M, T1328M, T1331M, T1335M, T1337M, T1348M, T1351M, T1364M, T1378M, T1385M, T1394M, T1396M, T966M	Wilson disease	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 241423845.	NM_000053.4(ATP7B):c.1865T>C (p.Ile622Thr) GRCh37: Chr13:52539012 GRCh38: Chr13:51964876	ATP7B	I479T, I511T, I590T, I611T, I622T	Wilson disease	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 220363246.	NM_000053.4(ATP7B):c.2518C>T (p.Pro840Ser) GRCh37: Chr13:52524465 GRCh38: Chr13:51950329	ATP7B	P646S, P829S, P840S, P730S, P756S, P760S, P678S, P724S, P729S, P762S, P624S, P697S, P781S, P792S, P808S	Wilson disease	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 220174647.	NM_000053.4(ATP7B):c.2575+17C>T GRCh37: Chr13:52524391 GRCh38: Chr13:51950255	ATP7B		Wilson disease	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 220124348.	NM_000053.4(ATP7B):c.530C>T (p.Ser177Leu) GRCh37: Chr13:52548826 GRCh38: Chr13:51974690	ATP7B	S145L, S177L	Wilson disease	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 220037049.	NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser) GRCh37: Chr13:52548320 GRCh38: Chr13:51974184	ATP7B	P314S, P346S	Wilson disease	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 220030650.	NM_000053.4(ATP7B):c.676_677del (p.Arg226fs) GRCh37: Chr13:52548679-52548680 GRCh38: Chr13:51974543-51974544	ATP7B	R226fs	Wilson disease	Pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 219869451.	NM_000053.4(ATP7B):c.1823T>C (p.Phe608Ser) GRCh37: Chr13:52539054 GRCh38: Chr13:51964918	ATP7B	F497S, F597S, F608S, F465S, F576S	Wilson disease	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 219629052.	NM_000053.4(ATP7B):c.2576-15C>G GRCh37: Chr13:52524312 GRCh38: Chr13:51950176	ATP7B		Wilson disease	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 219523253.	NM_000053.4(ATP7B):c.1946+13C>T GRCh37: Chr13:52535960 GRCh38: Chr13:51961824	ATP7B		Wilson disease	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 219398654.	NM_000053.4(ATP7B):c.1214C>T (p.Pro405Leu) GRCh37: Chr13:52548142 GRCh38: Chr13:51974006	ATP7B	P262L, P373L, P294L, P405L	Wilson disease	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 219367755.	NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys) GRCh37: Chr13:52516582 GRCh38: Chr13:51942446	ATP7B	R1008C, R1053C, R1070C, R1086C, R1100C, R1118C, R688C, R924C, R1038C, R1040C, R1116C, R837C, R902C, R911C, R969C, R975C, R1007C, R1022C, R1034C, R1057C, R1073C, R1002C, R1005C, R1059C, R1107C, R891C, R956C	Wilson disease	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 219352856.	NM_000053.4(ATP7B):c.106A>T (p.Ser36Cys) GRCh37: Chr13:52549250 GRCh38: Chr13:51975114	ATP7B	S36C, S4C	Wilson disease	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 219220157.	NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val) GRCh37: Chr13:52524497 GRCh38: Chr13:51950361	ATP7B	D667V, D719V, D781V, D829V, D613V, D635V, D686V, D713V, D751V, D818V, D718V, D745V, D749V, D770V, D797V	Wilson disease	Likely pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 219169458.	NM_000053.4(ATP7B):c.595G>T (p.Asp199Tyr) GRCh37: Chr13:52548761 GRCh38: Chr13:51974625	ATP7B	D199Y, D167Y	Wilson disease	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 219145859.	NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly) GRCh37: Chr13:52549094 GRCh38: Chr13:51974958	ATP7B	S56G, S88G	Wilson disease	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 219134160.	NM_000053.4(ATP7B):c.3061-8T>C GRCh37: Chr13:52518435 GRCh38: Chr13:51944299	ATP7B		Wilson disease	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 219105061.	NM_000053.4(ATP7B):c.1285+5G>A GRCh37: Chr13:52548066 GRCh38: Chr13:51973930	ATP7B		Wilson disease	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 219068862.	NM_000053.4(ATP7B):c.98T>G (p.Met33Arg) GRCh37: Chr13:52549258 GRCh38: Chr13:51975122	ATP7B	M1R, M33R	Wilson disease	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 219052663.	NM_000053.4(ATP7B):c.1285+4C>T GRCh37: Chr13:52548067 GRCh38: Chr13:51973931	ATP7B		Wilson disease	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 218976364.	NM_000053.4(ATP7B):c.1174G>T (p.Val392Leu) GRCh37: Chr13:52548182 GRCh38: Chr13:51974046	ATP7B	V249L, V281L, V360L, V392L	Wilson disease	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218839865.	NM_000053.4(ATP7B):c.2772T>C (p.Phe924=) GRCh37: Chr13:52523891 GRCh38: Chr13:51949755	ATP7B		Wilson disease	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 218789466.	NM_000053.4(ATP7B):c.3969C>T (p.Ile1323=) GRCh37: Chr13:52511464 GRCh38: Chr13:51937328	ATP7B		Wilson disease	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 218708167.	NM_000053.4(ATP7B):c.2374C>G (p.Leu792Val) GRCh37: Chr13:52531725 GRCh38: Chr13:51957589	ATP7B	L649V, L681V, L714V, L781V, L712V, L630V, L682V, L708V, L760V, L792V, L576V, L598V, L676V, L733V, L744V	Wilson disease	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 218622668.	NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp) GRCh37: Chr13:52518384 GRCh38: Chr13:51944248	ATP7B	G1017D, G754D, G886D, G919D, G939D, G955D, G819D, G976D, G990D, G1024D, G1033D, G1035D, G605D, G808D, G828D, G841D, G873D, G892D, G922D, G970D, G1003D, G924D, G925D, G951D, G957D, G987D	Wilson disease	Likely pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 218448669.	NM_000053.4(ATP7B):c.2730+13T>A GRCh37: Chr13:52524130 GRCh38: Chr13:51949994	ATP7B		Wilson disease	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 218437770.	NM_000053.4(ATP7B):c.2875A>G (p.Lys959Glu) GRCh37: Chr13:52520605 GRCh38: Chr13:51946469	ATP7B	K743E, K752E, K765E, K797E, K848E, K875E, K911E, K914E, K941E, K959E, K529E, K843E, K849E, K863E, K879E, K881E, K816E, K927E, K948E, K900E	Wilson disease	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 218305571.	NM_000053.4(ATP7B):c.3244-10A>G GRCh37: Chr13:52516700 GRCh38: Chr13:51942564	ATP7B		Wilson disease	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 218261972.	NM_000053.4(ATP7B):c.3099C>T (p.Thr1033=) GRCh37: Chr13:52518389 GRCh38: Chr13:51944253	ATP7B		Wilson disease	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 218042473.	NM_000053.4(ATP7B):c.2071G>C (p.Gly691Arg) GRCh37: Chr13:52534334 GRCh38: Chr13:51960198	ATP7B	G659R, G548R, G580R, G680R, G691R	Wilson disease	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 218022274.	NM_000053.4(ATP7B):c.441C>T (p.Leu147=) GRCh37: Chr13:52548915 GRCh38: Chr13:51974779	ATP7B		Wilson disease	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 217993275.	NM_000053.4(ATP7B):c.1666A>C (p.Met556Leu) GRCh37: Chr13:52542621 GRCh38: Chr13:51968485	ATP7B	M413L, M445L, M524L, M556L, M545L	Wilson disease	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 217823376.	NM_000053.4(ATP7B):c.894A>G (p.Gln298=) GRCh37: Chr13:52548462 GRCh38: Chr13:51974326	ATP7B		Wilson disease	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 217487077.	NM_000053.4(ATP7B):c.2833A>G (p.Ile945Val) GRCh37: Chr13:52523830 GRCh38: Chr13:51949694	ATP7B	I515V, I867V, I886V, I897V, I729V, I835V, I945V, I751V, I802V, I829V, I913V, I783V, I834V, I861V, I865V, I934V	Wilson disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 217395578.	NM_000053.4(ATP7B):c.1472T>G (p.Phe491Cys) GRCh37: Chr13:52544699 GRCh38: Chr13:51970563	ATP7B	F459C, F348C, F380C, F491C	Wilson disease	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 217386079.	NM_000053.4(ATP7B):c.3094A>G (p.Ile1032Val) GRCh37: Chr13:52518394 GRCh38: Chr13:51944258	ATP7B	I1014V, I1032V, I816V, I825V, I889V, I921V, I922V, I936V, I602V, I751V, I883V, I919V, I948V, I952V, I973V, I1000V, I838V, I954V, I984V, I987V, I1021V, I1030V, I805V, I870V, I916V, I967V	Wilson disease	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 217353380.	NM_000053.4(ATP7B):c.2006T>C (p.Ile669Thr) GRCh37: Chr13:52534399 GRCh38: Chr13:51960263	ATP7B	I637T, I558T, I526T, I658T, I669T	Wilson disease	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 217263581.	NM_000053.4(ATP7B):c.1689T>C (p.Asp563=) GRCh37: Chr13:52542598 GRCh38: Chr13:51968462	ATP7B		Wilson disease	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 217251782.	NM_000053.4(ATP7B):c.2546A>G (p.Asn849Ser) GRCh37: Chr13:52524437 GRCh38: Chr13:51950301	ATP7B	N687S, N739S, N771S, N633S, N738S, N769S, N838S, N849S, N733S, N817S, N655S, N706S, N765S, N790S, N801S	Wilson disease	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 217222083.	NM_000053.4(ATP7B):c.1617C>T (p.Pro539=) GRCh37: Chr13:52542670 GRCh38: Chr13:51968534	ATP7B		Wilson disease	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 216987184.	NM_000053.4(ATP7B):c.3951T>C (p.Thr1317=) GRCh37: Chr13:52511482 GRCh38: Chr13:51937346	ATP7B		Wilson disease	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 216972585.	NM_000053.4(ATP7B):c.3555C>T (p.Asp1185=) GRCh37: Chr13:52515218 GRCh38: Chr13:51941082	ATP7B		Wilson disease	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 216839486.	NM_000053.4(ATP7B):c.2332C>A (p.Arg778=) GRCh37: Chr13:52532470 GRCh38: Chr13:51958334	ATP7B		Wilson disease	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 216835887.	NM_000053.4(ATP7B):c.4021+3dup GRCh37: Chr13:52511408-52511409 GRCh38: Chr13:51937272-51937273	ATP7B		Wilson disease	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 216831188.	NM_000053.4(ATP7B):c.2448-17A>C GRCh37: Chr13:52524552 GRCh38: Chr13:51950416	ATP7B		Wilson disease	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 216794989.	NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr) GRCh37: Chr13:52513309 GRCh38: Chr13:51939173	ATP7B	A1029T, A1044T, A1050T, A1080T, A1115T, A1175T, A1193T, A986T, A1083T, A1109T, A1128T, A1134T, A1145T, A1148T, A1161T, A1182T, A763T, A999T, A1031T, A1067T, A1082T, A1113T, A1132T, A1191T, A912T, A1097T, A966T, A977T	Wilson disease	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 216776790.	NM_000053.4(ATP7B):c.26C>T (p.Thr9Ile) GRCh37: Chr13:52585448 GRCh38: Chr13:52011312	ATP7B	T9I	Wilson disease	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 216725491.	NM_000053.4(ATP7B):c.1933A>G (p.Met645Val) GRCh37: Chr13:52535986 GRCh38: Chr13:51961850	ATP7B	M634V, M645V, M613V, M534V, M502V	Wilson disease	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 216676292.	NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr) GRCh37: Chr13:52518268 GRCh38: Chr13:51944132	ATP7B	A1029T, A1056T, A644T, A880T, A925T, A931T, A990T, A1009T, A1072T, A847T, A912T, A958T, A961T, A994T, A1026T, A1042T, A1063T, A1074T, A858T, A963T, A978T, A996T, A1015T, A793T, A867T, A964T	Wilson disease	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216669693.	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 216627394.	NM_000053.4(ATP7B):c.3752A>T (p.Lys1251Met) GRCh37: Chr13:52511763 GRCh38: Chr13:51937627	ATP7B	K1024M, K1089M, K1155M, K1167M, K1233M, K821M, K1044M, K1087M, K1102M, K1108M, K1173M, K1192M, K1240M, K1249M, K1251M, K1140M, K1186M, K1203M, K1219M, K970M, K1035M, K1057M, K1125M, K1138M, K1141M, K1171M, K1190M, K1206M	Wilson disease	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 216600795.	NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg) GRCh37: Chr13:52509010 GRCh38: Chr13:51934874	ATP7B	Q1200R, Q1233R, Q1284R, Q1301R, Q1343R, Q1349R, Q1362R, Q1379R, Q1382R, Q1395R, Q1211R, Q1265R, Q1278R, Q1317R, Q1331R, Q1347R, Q1368R, Q1409R, Q997R, Q1316R, Q1366R, Q1425R, Q1146R, Q1220R, Q1263R, Q1314R, Q1359R, Q1416R, Q1427R	Wilson disease	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 216590596.	NM_000053.4(ATP7B):c.1806C>T (p.Ser602=) GRCh37: Chr13:52539071 GRCh38: Chr13:51964935	ATP7B		Wilson disease	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 216572197.	NM_000053.4(ATP7B):c.1667T>C (p.Met556Thr) GRCh37: Chr13:52542620 GRCh38: Chr13:51968484	ATP7B	M445T, M524T, M545T, M556T, M413T	Wilson disease	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 216548298.	NM_000053.4(ATP7B):c.4036A>G (p.Ile1346Val) GRCh37: Chr13:52509817 GRCh38: Chr13:51935681	ATP7B	I1152V, I1203V, I1266V, I1281V, I1314V, I1344V, I1182V, I1184V, I1197V, I1220V, I1250V, I1287V, I1301V, I1335V, I1346V, I916V, I1065V, I1119V, I1130V, I1139V, I1233V, I1235V, I1236V, I1262V, I1278V, I1285V, I1298V, I1328V, I1268V	Wilson disease	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 216522799.	NM_000053.4(ATP7B):c.176C>T (p.Thr59Ile) GRCh37: Chr13:52549180 GRCh38: Chr13:51975044	ATP7B	T27I, T59I	Wilson disease	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 2164881100.	NM_000053.4(ATP7B):c.1496G>C (p.Cys499Ser) GRCh37: Chr13:52544675 GRCh38: Chr13:51970539	ATP7B	C388S, C356S, C467S, C499S	Wilson disease	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter

<< First< Prev

Page of 21