Atp7b Variant Search Result - Rat Genome Database

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More than 1000 records found for search term Atp7b (Displaying 1000)
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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8557714	CV18885	deletion	ATP7B, 1-BP DEL, 2337C	Wilson disease [RCV000004050]	pathogenic				Human		name
8557726	CV18897	deletion	ATP7B, 1-BP DEL, 2511A	Wilson disease [RCV000004062]	pathogenic				Human		name
8557713	CV18882	deletion	ATP7B, 7-BP DEL, NT2010	Wilson disease [RCV000004047]	pathogenic				Human		name
8557715	CV18886	insertion	ATP7B, 1-BP INS, NT2487	Wilson disease [RCV000004051]	pathogenic				Human		name
8557721	CV18892	deletion	ATP7B, 15-BP DEL, NT-441	Wilson disease [RCV000004057]	pathogenic				Human		name
127264552	CV1063034	duplication	NM_000053.4(ATP7B):c.51dup	Wilson disease [RCV001381257]	pathogenic\|likely pathogenic	13	52011286	52011287	Human	1	name
405741841	CV3229380	single nucleotide variant	NM_000053.4(ATP7B):c.-2C>T	Wilson disease [RCV004015124]	uncertain significance	13	52011339	52011339	Human	1	name
405719019	CV3231186	single nucleotide variant	NM_000053.4(ATP7B):c.-7C>G	Wilson disease [RCV004012592]	uncertain significance	13	52011344	52011344	Human	1	name
405260112	CV3190224	single nucleotide variant	NM_000053.4(ATP7B):c.-81A>G	ATP7B-related disorder [RCV003894625]	likely benign	13	52011418	52011418	Human		name , trait , alternate_id
11649904	CV319985	single nucleotide variant	NM_000053.4(ATP7B):c.-97C>T	Wilson disease [RCV000290154]	uncertain significance	13	52011434	52011434	Human	1	name
11623878	CV328550	single nucleotide variant	NM_000053.4(ATP7B):c.-54G>T	Wilson disease [RCV000378795]\|not provided [RCV004705283]	likely benign\|uncertain significance	13	52011391	52011391	Human	1	name
11649703	CV336912	single nucleotide variant	NM_000053.4(ATP7B):c.-73G>T	Wilson disease [RCV000288967]	uncertain significance	13	52011410	52011410	Human	1	name
11619437	CV336914	single nucleotide variant	NM_000053.4(ATP7B):c.-74C>T	Wilson disease [RCV000325311]	uncertain significance	13	52011411	52011411	Human	1	name
11665824	CV336917	single nucleotide variant	NM_000053.4(ATP7B):c.-75C>A	Congenital disorder of glycosylation [RCV000296384]\|Wilson disease [RCV000384429]\|not provided [RCV004708340]\|not specified [RCV000434045]	benign	13	52011412	52011412	Human	2	name
597686934	CV3714474	single nucleotide variant	NM_000053.4(ATP7B):c.-36C>T	Wilson disease [RCV005006979]	uncertain significance	13	52011373	52011373	Human	1	name
8569227	CV44364	single nucleotide variant	NM_000053.4(ATP7B):c.-74C>A	Wilson disease [RCV000029349]	uncertain significance	13	52011411	52011411	Human	1	name
8569260	CV44397	single nucleotide variant	NM_000053.4(ATP7B):c.*15C>T	Wilson disease [RCV000029382]\|not specified [RCV000417733]	benign\|likely benign\|uncertain significance	13	51934741	51934741	Human	1	name
8569261	CV44398	single nucleotide variant	NM_000053.4(ATP7B):c.*16G>A	Wilson disease [RCV000029383]\|not provided [RCV000865113]\|not specified [RCV001420713]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51934740	51934740	Human	1	name
14394059	CV609872	single nucleotide variant	NM_000053.4(ATP7B):c.*23G>T	Wilson disease [RCV000757020]	likely benign	13	51934733	51934733	Human	1	name
28871819	CV871433	single nucleotide variant	NM_000053.4(ATP7B):c.*34G>A	Wilson disease [RCV001114259]	uncertain significance	13	51934722	51934722	Human	1	name
28869806	CV871456	single nucleotide variant	NM_000053.4(ATP7B):c.-91C>T	Wilson disease [RCV001113269]	uncertain significance	13	52011428	52011428	Human	1	name
126910130	CV1038267	single nucleotide variant	NM_000053.4(ATP7B):c.51+3G>A	not provided [RCV001354395]	uncertain significance	13	52011284	52011284	Human		name
127231047	CV1080175	single nucleotide variant	NM_000053.4(ATP7B):c.52-5T>C	Wilson disease [RCV001395096]	likely benign	13	51975173	51975173	Human	1	name
127310100	CV1144290	single nucleotide variant	NM_000053.4(ATP7B):c.52-7T>G	Wilson disease [RCV001501228]	likely benign	13	51975175	51975175	Human	1	name
127337841	CV1144291	single nucleotide variant	NM_000053.4(ATP7B):c.51+9T>G	Wilson disease [RCV001493186]	likely benign	13	52011278	52011278	Human	1	name
152031902	CV1629274	single nucleotide variant	NM_000053.4(ATP7B):c.51+9T>C	Wilson disease [RCV002106260]	likely benign	13	52011278	52011278	Human	1	name
156008627	CV2019975	deletion	NM_000053.4(ATP7B):c.52-8del	Wilson disease [RCV002734779]	likely benign	13	51975176	51975176	Human	1	name
156179402	CV2061369	single nucleotide variant	NM_000053.4(ATP7B):c.51+2T>C	Wilson disease [RCV002802208]	pathogenic	13	52011285	52011285	Human	1	name
401829207	CV2743706	single nucleotide variant	NM_000053.4(ATP7B):c.51+3G>C	not provided [RCV003326882]	uncertain significance	13	52011284	52011284	Human		name
401946181	CV2833559	single nucleotide variant	NM_000053.4(ATP7B):c.52-2A>G	Wilson disease [RCV003464968]	likely pathogenic	13	51975170	51975170	Human	1	name
401946048	CV2835636	single nucleotide variant	NM_000053.4(ATP7B):c.51+2T>G	Wilson disease [RCV003464928]	pathogenic	13	52011285	52011285	Human	1	name
401962339	CV2844822	single nucleotide variant	NM_000053.4(ATP7B):c.-210A>T	not provided [RCV003482479]	conflicting interpretations of pathogenicity\|uncertain significance	13	52011547	52011547	Human		name
405028936	CV2991739	single nucleotide variant	NM_000053.4(ATP7B):c.52-1G>A	Wilson disease [RCV003608669]	likely pathogenic	13	51975169	51975169	Human	1	name
405056829	CV3052360	single nucleotide variant	NM_000053.4(ATP7B):c.52-5T>G	Wilson disease [RCV003610892]	likely benign	13	51975173	51975173	Human	1	name
405055879	CV3066676	duplication	NM_000053.4(ATP7B):c.52-3dup	Wilson disease [RCV003610907]	benign	13	51975170	51975171	Human	1	name
11602067	CV319971	single nucleotide variant	NM_000053.4(ATP7B):c.*963C>T	Wilson disease [RCV000287848]	uncertain significance	13	51933793	51933793	Human	1	name
11625890	CV328505	single nucleotide variant	NM_000053.4(ATP7B):c.*851T>C	Wilson disease [RCV000404468]	uncertain significance	13	51933905	51933905	Human	1	name
11658389	CV328507	single nucleotide variant	NM_000053.4(ATP7B):c.*781T>C	Wilson disease [RCV000348772]	uncertain significance	13	51933975	51933975	Human	1	name
11663549	CV328509	single nucleotide variant	NM_000053.4(ATP7B):c.*510G>T	Wilson disease [RCV000397094]	uncertain significance	13	51934246	51934246	Human	1	name
11659318	CV328511	single nucleotide variant	NM_000053.4(ATP7B):c.*221C>A	Wilson disease [RCV000356894]	uncertain significance	13	51934535	51934535	Human	1	name
11619360	CV328547	single nucleotide variant	NM_000053.4(ATP7B):c.51+4A>T	Wilson disease [RCV000324263]\|not provided [RCV001729524]	pathogenic\|likely pathogenic	13	52011283	52011283	Human	1	name
11621141	CV335009	single nucleotide variant	NM_000053.4(ATP7B):c.*870C>T	Wilson disease [RCV000345105]	uncertain significance	13	51933886	51933886	Human	1	name
11650917	CV335010	single nucleotide variant	NM_000053.4(ATP7B):c.*786T>C	Wilson disease [RCV000295995]	uncertain significance	13	51933970	51933970	Human	1	name
11616960	CV335011	single nucleotide variant	NM_000053.4(ATP7B):c.*421C>T	Wilson disease [RCV000299766]	uncertain significance	13	51934335	51934335	Human	1	name
11625276	CV335019	single nucleotide variant	NM_000053.4(ATP7B):c.*190C>T	Wilson disease [RCV000397092]	uncertain significance	13	51934566	51934566	Human	1	name
11612973	CV335026	single nucleotide variant	NM_000053.4(ATP7B):c.*111G>A	Wilson disease [RCV000264391]	uncertain significance	13	51934645	51934645	Human	1	name
11616846	CV336878	single nucleotide variant	NM_000053.4(ATP7B):c.*190C>A	Wilson disease [RCV000298670]\|not provided [RCV001618547]	benign\|likely benign	13	51934566	51934566	Human	1	name
11622464	CV336880	single nucleotide variant	NM_000053.4(ATP7B):c.*148C>T	Wilson disease [RCV000360445]\|not provided [RCV001576381]	likely benign\|uncertain significance	13	51934608	51934608	Human	1	name
11664297	CV336934	single nucleotide variant	NM_000053.4(ATP7B):c.-122G>A	Wilson disease [RCV000404596]\|not provided [RCV004693155]	uncertain significance	13	52011459	52011459	Human	1	name
408380853	CV3521876	single nucleotide variant	NM_000053.2(ATP7B):c.-362C>T	Wilson disease [RCV004764675]	uncertain significance	13	52011699	52011699	Human	1	name
12740124	CV358243	single nucleotide variant	NM_000053.4(ATP7B):c.52-1G>T	Wilson disease [RCV000411235]	likely pathogenic\|conflicting interpretations of pathogenicity	13	51975169	51975169	Human	1	name
597686911	CV3714472	single nucleotide variant	NM_000053.4(ATP7B):c.51+5G>A	Wilson disease [RCV005006977]	likely pathogenic	13	52011282	52011282	Human	1	name
12838086	CV373583	single nucleotide variant	NM_000053.4(ATP7B):c.-676A>G	ATP7B-related disorder [RCV004751525]\|Wilson disease [RCV000626321]\|not provided [RCV000426325]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	52012013	52012013	Human	1	name , alternate_id
28911636	CV871425	single nucleotide variant	NM_000053.4(ATP7B):c.*920G>A	Wilson disease [RCV001110904]	uncertain significance	13	51933836	51933836	Human	1	name
28911637	CV871426	single nucleotide variant	NM_000053.4(ATP7B):c.*843C>T	Wilson disease [RCV001110905]	uncertain significance	13	51933913	51933913	Human	1	name
28911638	CV871427	single nucleotide variant	NM_000053.4(ATP7B):c.*833A>T	Wilson disease [RCV001110906]	uncertain significance	13	51933923	51933923	Human	1	name
28869034	CV871428	single nucleotide variant	NM_000053.4(ATP7B):c.*767T>A	Wilson disease [RCV001112900]	uncertain significance	13	51933989	51933989	Human	1	name
28869036	CV871429	single nucleotide variant	NM_000053.4(ATP7B):c.*668C>A	Wilson disease [RCV001112901]	uncertain significance	13	51934088	51934088	Human	1	name
28869039	CV871430	single nucleotide variant	NM_000053.4(ATP7B):c.*355G>A	Wilson disease [RCV001112902]	uncertain significance	13	51934401	51934401	Human	1	name
28871813	CV871431	single nucleotide variant	NM_000053.4(ATP7B):c.*149G>A	Wilson disease [RCV001114257]	uncertain significance	13	51934607	51934607	Human	1	name
28871816	CV871432	single nucleotide variant	NM_000053.4(ATP7B):c.*111G>T	Wilson disease [RCV001114258]	uncertain significance	13	51934645	51934645	Human	1	name
34890645	CV904582	deletion	NM_000053.4(ATP7B):c.3700del	Wilson disease [RCV003462641]\|not provided [RCV001171672]	pathogenic	13	51937679	51937679	Human	1	name
40906617	CV979416	single nucleotide variant	NM_000053.4(ATP7B):c.-389A>G	Wilson disease [RCV001280027]	uncertain significance	13	52011726	52011726	Human	1	name
40906618	CV979417	single nucleotide variant	NM_000053.4(ATP7B):c.-441C>G	Wilson disease [RCV001280028]	uncertain significance	13	52011778	52011778	Human	1	name
151349758	CV1321712	single nucleotide variant	NM_000053.4(ATP7B):c.51+14C>T	Wilson disease [RCV001802696]	likely benign	13	52011273	52011273	Human	1	name
9684410	CV167774	deletion	NM_000053.3(ATP7B):c.-119delG	not specified [RCV000145250]	benign	13	52011456	52011456	Human		name
156391065	CV1879499	single nucleotide variant	NM_000053.4(ATP7B):c.52-15T>A	Wilson disease [RCV003068026]	likely benign	13	51975183	51975183	Human	1	name
156249540	CV2106494	single nucleotide variant	NM_000053.4(ATP7B):c.51+17C>T	Wilson disease [RCV002933495]	likely benign	13	52011270	52011270	Human	1	name
405132037	CV2900762	single nucleotide variant	NM_000053.4(ATP7B):c.51+20G>A	Wilson disease [RCV003502243]	likely benign	13	52011267	52011267	Human	1	name
402466754	CV2922415	single nucleotide variant	NM_000053.4(ATP7B):c.51+16C>T	Wilson disease [RCV003503359]	likely benign	13	52011271	52011271	Human	1	name
405055745	CV3066684	single nucleotide variant	NM_000053.4(ATP7B):c.51+13C>G	Wilson disease [RCV003610908]	likely benign	13	52011274	52011274	Human	1	name
405040966	CV3070352	deletion	NM_000053.4(ATP7B):c.51+17del	Wilson disease [RCV003609771]	benign	13	52011270	52011270	Human	1	name
405046193	CV3077768	single nucleotide variant	NM_000053.4(ATP7B):c.52-13C>A	Wilson disease [RCV003609995]	likely benign\|conflicting interpretations of pathogenicity	13	51975181	51975181	Human	1	name
405143250	CV3141331	deletion	NM_000053.4(ATP7B):c.52-13del	Wilson disease [RCV003839447]	likely benign	13	51975181	51975181	Human	1	name
11606846	CV319950	single nucleotide variant	NM_000053.4(ATP7B):c.*1782C>G	Wilson disease [RCV000336343]\|not provided [RCV004708339]	benign	13	51932974	51932974	Human	1	name
11650049	CV319951	single nucleotide variant	NM_000053.4(ATP7B):c.*1592T>C	Wilson disease [RCV000290896]	uncertain significance	13	51933164	51933164	Human	1	name
11599536	CV319959	single nucleotide variant	NM_000053.4(ATP7B):c.*1076A>T	Wilson disease [RCV000266561]	uncertain significance	13	51933680	51933680	Human	1	name
11623666	CV328486	single nucleotide variant	NM_000053.4(ATP7B):c.*1805C>T	Wilson disease [RCV000375890]	uncertain significance	13	51932951	51932951	Human	1	name
11625747	CV328488	single nucleotide variant	NM_000053.4(ATP7B):c.*1659A>G	Wilson disease [RCV000402850]	uncertain significance	13	51933097	51933097	Human	1	name
11652930	CV328496	single nucleotide variant	NM_000053.4(ATP7B):c.*1493T>C	Wilson disease [RCV000308103]	uncertain significance	13	51933263	51933263	Human	1	name
11623215	CV328499	single nucleotide variant	NM_000053.4(ATP7B):c.*1491A>G	Wilson disease [RCV000369824]	uncertain significance	13	51933265	51933265	Human	1	name
11659038	CV328503	single nucleotide variant	NM_000053.4(ATP7B):c.*1095C>T	Wilson disease [RCV000354329]	uncertain significance	13	51933661	51933661	Human	1	name
11647869	CV334987	deletion	NM_000053.4(ATP7B):c.*1782del	Wilson disease [RCV000278993]	uncertain significance	13	51932974	51932974	Human	1	name
11658329	CV334989	single nucleotide variant	NM_000053.4(ATP7B):c.*1558T>A	Wilson disease [RCV000347710]	uncertain significance	13	51933198	51933198	Human	1	name
11625301	CV334993	single nucleotide variant	NM_000053.4(ATP7B):c.*1499A>T	Wilson disease [RCV000397436]	uncertain significance	13	51933257	51933257	Human	1	name
11625466	CV334994	single nucleotide variant	NM_000053.4(ATP7B):c.*1409A>C	Wilson disease [RCV000399292]	uncertain significance	13	51933347	51933347	Human	1	name
11623115	CV335004	single nucleotide variant	NM_000053.4(ATP7B):c.*1265A>G	Wilson disease [RCV000368835]	uncertain significance	13	51933491	51933491	Human	1	name
11623705	CV335006	single nucleotide variant	NM_000053.4(ATP7B):c.*1014A>G	Wilson disease [RCV000376084]	uncertain significance	13	51933742	51933742	Human	1	name
11619608	CV335007	single nucleotide variant	NM_000053.4(ATP7B):c.*1005G>T	Wilson disease [RCV000327331]	uncertain significance	13	51933751	51933751	Human	1	name
11654477	CV336837	single nucleotide variant	NM_000053.4(ATP7B):c.*1901G>A	Wilson disease [RCV000318047]	uncertain significance	13	51932855	51932855	Human	1	name
11661701	CV336841	single nucleotide variant	NM_000053.4(ATP7B):c.*1756T>C	Wilson disease [RCV000379243]	uncertain significance	13	51933000	51933000	Human	1	name
11615567	CV336847	single nucleotide variant	NM_000053.4(ATP7B):c.*1717G>T	Wilson disease [RCV000287347]	benign\|likely benign	13	51933039	51933039	Human	1	name
11620695	CV336848	single nucleotide variant	NM_000053.4(ATP7B):c.*1708A>G	Wilson disease [RCV000340057]\|not provided [RCV004707101]	benign\|likely benign	13	51933048	51933048	Human	1	name
11618198	CV336857	single nucleotide variant	NM_000053.4(ATP7B):c.*1385G>A	Wilson disease [RCV000311850]\|not provided [RCV002262973]	benign\|uncertain significance	13	51933371	51933371	Human	1	name
11612798	CV336858	single nucleotide variant	NM_000053.4(ATP7B):c.*1182C>T	Wilson disease [RCV000262520]	benign\|likely benign	13	51933574	51933574	Human	1	name
11618596	CV336859	single nucleotide variant	NM_000053.4(ATP7B):c.*1172G>A	Wilson disease [RCV000315820]\|not provided [RCV004707102]	benign\|likely benign	13	51933584	51933584	Human	1	name
11619337	CV336871	single nucleotide variant	NM_000053.4(ATP7B):c.*1036C>T	Wilson disease [RCV000324011]	uncertain significance	13	51933720	51933720	Human	1	name
11615232	CV336872	single nucleotide variant	NM_000053.4(ATP7B):c.*1009G>A	Wilson disease [RCV000283967]\|not provided [RCV004703657]	likely benign\|uncertain significance	13	51933747	51933747	Human	1	name
12846615	CV373869	single nucleotide variant	NM_000053.4(ATP7B):c.51+13C>T	Wilson disease [RCV001113268]\|not specified [RCV000441986]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	52011274	52011274	Human	1	name
597937414	CV3774686	duplication	NM_000053.4(ATP7B):c.51+17dup	Wilson disease [RCV005117719]	benign	13	52011269	52011270	Human	1	name
597952318	CV3815412	single nucleotide variant	NM_000053.4(ATP7B):c.51+18G>T	Wilson disease [RCV005161362]	likely benign	13	52011269	52011269	Human	1	name
13535145	CV504296	single nucleotide variant	NM_000053.4(ATP7B):c.51+15C>G	not specified [RCV000602135]	likely benign	13	52011272	52011272	Human		name
28911145	CV871411	single nucleotide variant	NM_000053.4(ATP7B):c.*1773C>G	Wilson disease [RCV001110067]	uncertain significance	13	51932983	51932983	Human	1	name
28911595	CV871412	single nucleotide variant	NM_000053.4(ATP7B):c.*1746C>T	Wilson disease [RCV001110835]	uncertain significance	13	51933010	51933010	Human	1	name
28911596	CV871413	single nucleotide variant	NM_000053.4(ATP7B):c.*1744C>T	Wilson disease [RCV001110836]\|not provided [RCV004706008]	likely benign	13	51933012	51933012	Human	1	name
28911597	CV871414	single nucleotide variant	NM_000053.4(ATP7B):c.*1618G>A	Wilson disease [RCV001110837]	uncertain significance	13	51933138	51933138	Human	1	name
28868931	CV871415	single nucleotide variant	NM_000053.4(ATP7B):c.*1423T>C	Wilson disease [RCV001112823]	uncertain significance	13	51933333	51933333	Human	1	name
28868934	CV871416	single nucleotide variant	NM_000053.4(ATP7B):c.*1286G>A	Wilson disease [RCV001112824]	uncertain significance	13	51933470	51933470	Human	1	name
28871626	CV871417	single nucleotide variant	NM_000053.4(ATP7B):c.*1240T>G	Wilson disease [RCV001114175]	uncertain significance	13	51933516	51933516	Human	1	name
28871627	CV871418	single nucleotide variant	NM_000053.4(ATP7B):c.*1206G>A	Wilson disease [RCV001114176]	uncertain significance	13	51933550	51933550	Human	1	name
28871630	CV871419	single nucleotide variant	NM_000053.4(ATP7B):c.*1170C>G	Wilson disease [RCV001114177]	uncertain significance	13	51933586	51933586	Human	1	name
28871632	CV871420	single nucleotide variant	NM_000053.4(ATP7B):c.*1128G>A	Wilson disease [RCV001114178]	uncertain significance	13	51933628	51933628	Human	1	name
28871635	CV871421	single nucleotide variant	NM_000053.4(ATP7B):c.*1124C>G	Wilson disease [RCV001114179]	uncertain significance	13	51933632	51933632	Human	1	name
28911196	CV871422	single nucleotide variant	NM_000053.4(ATP7B):c.*1104C>A	Wilson disease [RCV001110149]	uncertain significance	13	51933652	51933652	Human	1	name
28911197	CV871423	single nucleotide variant	NM_000053.4(ATP7B):c.*1019A>G	Wilson disease [RCV001110150]	uncertain significance	13	51933737	51933737	Human	1	name
28911635	CV871424	single nucleotide variant	NM_000053.4(ATP7B):c.*1005G>A	Wilson disease [RCV001110903]	uncertain significance	13	51933751	51933751	Human	1	name
41405617	CV981844	single nucleotide variant	NM_000053.4(ATP7B):c.51+31G>A	Wilson disease [RCV001286968]	likely benign	13	52011256	52011256	Human	1	name
126763144	CV1010914	single nucleotide variant	NM_000053.4(ATP7B):c.1285+5G>C	Wilson disease [RCV001319140]	uncertain significance	13	51973930	51973930	Human	1	name
126924333	CV1048375	single nucleotide variant	NM_000053.4(ATP7B):c.4124+5G>A	Wilson disease [RCV001366915]	likely pathogenic\|uncertain significance	13	51935588	51935588	Human	1	name
127249285	CV1056161	single nucleotide variant	NM_000053.4(ATP7B):c.2730+2T>A	Wilson disease [RCV001378125]	likely pathogenic	13	51950005	51950005	Human	1	name
127247891	CV1056163	deletion	NM_000053.4(ATP7B):c.1946+1del	Wilson disease [RCV001377856]	likely pathogenic	13	51961836	51961836	Human	1	name
127264025	CV1063015	deletion	NM_000053.4(ATP7B):c.3904-2del	Wilson disease [RCV001381117]	pathogenic\|likely pathogenic	13	51937395	51937395	Human	1	name
127248675	CV1063023	single nucleotide variant	NM_000053.4(ATP7B):c.2866-2A>C	Wilson disease [RCV001384960]	pathogenic	13	51946480	51946480	Human	1	name
127266297	CV1063027	single nucleotide variant	NM_000053.4(ATP7B):c.2447+5G>A	Wilson disease [RCV001381673]	pathogenic	13	51957511	51957511	Human	1	name
127231217	CV1080127	single nucleotide variant	NM_000053.4(ATP7B):c.4125-7T>C	Wilson disease [RCV001412953]	likely benign	13	51935036	51935036	Human	1	name
127254615	CV1080131	single nucleotide variant	NM_000053.4(ATP7B):c.3903+9G>A	Wilson disease [RCV001418594]	likely benign	13	51937467	51937467	Human	1	name
127246448	CV1080139	single nucleotide variant	NM_000053.4(ATP7B):c.3412+7C>G	Wilson disease [RCV001398971]	likely benign	13	51942379	51942379	Human	1	name
127281510	CV1080144	single nucleotide variant	NM_000053.4(ATP7B):c.2730+8A>G	Wilson disease [RCV001410546]	likely benign	13	51949999	51949999	Human	1	name
127283456	CV1080147	single nucleotide variant	NM_000053.4(ATP7B):c.2576-7C>T	Wilson disease [RCV001411827]	likely benign	13	51950168	51950168	Human	1	name
127256952	CV1080149	single nucleotide variant	NM_000053.4(ATP7B):c.2447+9T>C	Wilson disease [RCV001401343]	likely benign	13	51957507	51957507	Human	1	name
127259923	CV1080156	single nucleotide variant	NM_000053.4(ATP7B):c.1707+7A>C	Wilson disease [RCV001402081]	likely benign	13	51968437	51968437	Human	1	name
127232739	CV1080161	single nucleotide variant	NM_000053.4(ATP7B):c.1286-7A>G	Wilson disease [RCV001413597]	likely benign	13	51970756	51970756	Human	1	name
127239522	CV1080162	single nucleotide variant	NM_000053.4(ATP7B):c.1285+8G>A	Wilson disease [RCV001392744]	likely benign	13	51973927	51973927	Human	1	name
127263349	CV1101924	single nucleotide variant	NM_000053.4(ATP7B):c.4022-9C>A	Wilson disease [RCV001428540]	likely benign	13	51935704	51935704	Human	1	name
127258635	CV1101928	single nucleotide variant	NM_000053.4(ATP7B):c.3904-6C>T	Wilson disease [RCV001438185]	likely benign	13	51937399	51937399	Human	1	name
127254942	CV1101938	single nucleotide variant	NM_000053.4(ATP7B):c.3413-8T>C	Wilson disease [RCV001437370]	likely benign	13	51941232	51941232	Human	1	name
127238431	CV1101939	single nucleotide variant	NM_000053.4(ATP7B):c.3412+7C>T	Wilson disease [RCV001422905]	likely benign	13	51942379	51942379	Human	1	name
127239586	CV1101942	single nucleotide variant	NM_000053.4(ATP7B):c.3244-5C>T	Wilson disease [RCV001423148]	likely benign	13	51942559	51942559	Human	1	name
127250156	CV1101950	single nucleotide variant	NM_000053.4(ATP7B):c.2576-8A>G	Wilson disease [RCV001425327]	likely benign	13	51950169	51950169	Human	1	name
127258224	CV1101960	single nucleotide variant	NM_000053.4(ATP7B):c.1708-4G>A	Wilson disease [RCV001427271]	likely benign	13	51965037	51965037	Human	1	name
127253040	CV1101962	single nucleotide variant	NM_000053.4(ATP7B):c.1285+8G>C	Wilson disease [RCV001425927]	likely benign	13	51973927	51973927	Human	1	name
127303670	CV1123405	single nucleotide variant	NM_000053.4(ATP7B):c.3244-7T>C	Wilson disease [RCV001461985]	likely benign	13	51942561	51942561	Human	1	name
127295985	CV1123415	single nucleotide variant	NM_000053.4(ATP7B):c.2731-4A>C	Wilson disease [RCV001459856]	likely benign\|conflicting interpretations of pathogenicity	13	51949800	51949800	Human	1	name
127320073	CV1123428	single nucleotide variant	NM_000053.4(ATP7B):c.1869+9T>C	Wilson disease [RCV001466809]	likely benign	13	51964863	51964863	Human	1	name
127320095	CV1144247	single nucleotide variant	NM_000053.4(ATP7B):c.4022-4C>A	Wilson disease [RCV001504294]	likely benign	13	51935699	51935699	Human	1	name
127318991	CV1144251	single nucleotide variant	NM_000053.4(ATP7B):c.3903+7G>A	Wilson disease [RCV001483689]	likely benign	13	51937469	51937469	Human	1	name
127328307	CV1151106	single nucleotide variant	NM_000053.4(ATP7B):c.4125-1G>T	Wilson disease [RCV001506990]	pathogenic	13	51935030	51935030	Human	1	name
127328301	CV1151117	single nucleotide variant	NM_000053.4(ATP7B):c.2356-2A>G	Wilson disease [RCV001506987]	pathogenic\|likely pathogenic	13	51957609	51957609	Human	1	name
127328296	CV1151119	single nucleotide variant	NM_000053.4(ATP7B):c.1869+2T>C	Wilson disease [RCV001506984]	pathogenic\|likely pathogenic	13	51964870	51964870	Human	1	name
127328317	CV1151123	single nucleotide variant	NM_000053.4(ATP7B):c.1286-2A>G	Wilson disease [RCV001506996]	pathogenic	13	51970751	51970751	Human	1	name
127287314	CV1152540	single nucleotide variant	NM_000053.4(ATP7B):c.4124+4A>G	Wilson disease [RCV004007230]\|not provided [RCV001507821]	uncertain significance	13	51935589	51935589	Human	1	name
150500199	CV1235873	single nucleotide variant	NM_000053.4(ATP7B):c.52-306C>T	not provided [RCV001656556]	benign	13	51975474	51975474	Human		name
151354293	CV1329426	single nucleotide variant	NM_000053.4(ATP7B):c.3557-1G>C	Wilson disease [RCV002545181]\|not provided [RCV001817789]	pathogenic\|likely pathogenic	13	51939194	51939194	Human	1	name
151662193	CV1330291	single nucleotide variant	NM_000053.4(ATP7B):c.2121+1G>A	Wilson disease [RCV001823703]	likely pathogenic	13	51960147	51960147	Human	1	name
151822354	CV1351220	single nucleotide variant	NM_000053.4(ATP7B):c.4124+6T>C	Wilson disease [RCV001992900]	uncertain significance	13	51935587	51935587	Human	1	name
151884929	CV1364125	single nucleotide variant	NM_000053.4(ATP7B):c.3061-1G>A	Wilson disease [RCV002037652]	pathogenic	13	51944292	51944292	Human	1	name
151761021	CV1380320	single nucleotide variant	NM_000053.4(ATP7B):c.2121+3A>T	Wilson disease [RCV001970185]	pathogenic	13	51960145	51960145	Human	1	name
151667597	CV1384970	single nucleotide variant	NM_000053.4(ATP7B):c.2730+4A>G	Wilson disease [RCV001982634]	uncertain significance	13	51950003	51950003	Human	1	name
151825590	CV1393759	single nucleotide variant	NM_000053.4(ATP7B):c.1707+1G>A	Wilson disease [RCV002030308]\|not provided [RCV005232755]	pathogenic\|likely pathogenic	13	51968443	51968443	Human	1	name
151829383	CV1400806	single nucleotide variant	NM_000053.4(ATP7B):c.2122-1G>C	Wilson disease [RCV001976500]	pathogenic\|likely pathogenic	13	51958545	51958545	Human	1	name
151773203	CV1401304	single nucleotide variant	NM_000053.4(ATP7B):c.1946+5G>A	Wilson disease [RCV002025561]	uncertain significance	13	51961832	51961832	Human	1	name
151774937	CV1424205	single nucleotide variant	NM_000053.4(ATP7B):c.2730+2T>C	Wilson disease [RCV002025718]	likely pathogenic	13	51950005	51950005	Human	1	name
151723716	CV1425130	single nucleotide variant	NM_000053.4(ATP7B):c.4022-3C>T	Wilson disease [RCV001891457]	conflicting interpretations of pathogenicity\|uncertain significance	13	51935698	51935698	Human	1	name
151886266	CV1428820	single nucleotide variant	NM_000053.4(ATP7B):c.1543+1G>C	Wilson disease [RCV002037934]	pathogenic	13	51970491	51970491	Human	1	name
151744199	CV1432808	single nucleotide variant	NM_000053.4(ATP7B):c.1869+4A>T	Wilson disease [RCV001968457]	uncertain significance	13	51964868	51964868	Human	1	name
151761530	CV1433685	single nucleotide variant	NM_000053.4(ATP7B):c.1870-5A>G	Wilson disease [RCV002024422]	uncertain significance	13	51961918	51961918	Human	1	name
151815860	CV1440891	single nucleotide variant	NM_000053.4(ATP7B):c.3244-1G>A	Wilson disease [RCV001933665]	pathogenic	13	51942555	51942555	Human	1	name
151848599	CV1441886	single nucleotide variant	NM_000053.4(ATP7B):c.1544-1G>A	Wilson disease [RCV001995668]	likely pathogenic	13	51968608	51968608	Human	1	name
151868951	CV1444921	single nucleotide variant	NM_000053.4(ATP7B):c.2447+1G>A	Wilson disease [RCV001939532]	pathogenic\|likely pathogenic	13	51957515	51957515	Human	1	name
151785279	CV1454877	single nucleotide variant	NM_000053.4(ATP7B):c.2731-1G>A	Wilson disease [RCV001972470]	pathogenic	13	51949797	51949797	Human	1	name
151813483	CV1492076	single nucleotide variant	NM_000053.4(ATP7B):c.1947-1G>C	Wilson disease [RCV002029202]	likely pathogenic	13	51960323	51960323	Human	1	name
151810753	CV1516516	single nucleotide variant	NM_000053.4(ATP7B):c.1286-1G>T	Wilson disease [RCV002012409]	likely pathogenic	13	51970750	51970750	Human	1	name
152175666	CV1527043	deletion	NM_000053.4(ATP7B):c.4021+7del	Wilson disease [RCV002163802]	likely benign	13	51937269	51937269	Human	1	name
152140582	CV1551480	single nucleotide variant	NM_000053.4(ATP7B):c.4125-9G>A	Wilson disease [RCV002178004]	likely benign	13	51935038	51935038	Human	1	name
152149034	CV1552125	single nucleotide variant	NM_000053.4(ATP7B):c.2122-8T>C	Wilson disease [RCV002157885]	likely benign	13	51958552	51958552	Human	1	name
152171157	CV1552623	single nucleotide variant	NM_000053.4(ATP7B):c.3903+7G>C	Wilson disease [RCV002143357]	likely benign	13	51937469	51937469	Human	1	name
152067284	CV1566799	single nucleotide variant	NM_000053.4(ATP7B):c.1707+8C>T	Wilson disease [RCV002091095]	likely benign	13	51968436	51968436	Human	1	name
152053501	CV1575058	single nucleotide variant	NM_000053.4(ATP7B):c.2447+8A>T	Wilson disease [RCV002109267]	likely benign	13	51957508	51957508	Human	1	name
152090224	CV1581760	single nucleotide variant	NM_000053.4(ATP7B):c.2866-4T>A	Wilson disease [RCV002077605]	likely benign	13	51946482	51946482	Human	1	name
152090579	CV1594114	single nucleotide variant	NM_000053.4(ATP7B):c.1286-6T>C	Wilson disease [RCV002171770]	likely benign	13	51970755	51970755	Human	1	name
152078989	CV1602237	single nucleotide variant	NM_000053.4(ATP7B):c.4022-6C>T	Wilson disease [RCV002149057]	likely benign	13	51935701	51935701	Human	1	name
152106304	CV1605130	single nucleotide variant	NM_000053.4(ATP7B):c.3556+8C>G	Wilson disease [RCV002196194]	likely benign	13	51941073	51941073	Human	1	name
152160749	CV1619185	single nucleotide variant	NM_000053.4(ATP7B):c.3243+7G>A	Wilson disease [RCV002159594]	likely benign	13	51944102	51944102	Human	1	name
152076936	CV1632798	single nucleotide variant	NM_000053.4(ATP7B):c.3060+9G>A	Wilson disease [RCV002170042]	likely benign	13	51946275	51946275	Human	1	name
152153836	CV1643468	single nucleotide variant	NM_000053.4(ATP7B):c.3244-9C>T	ATP7B-related disorder [RCV003951057]\|Wilson disease [RCV002122137]	likely benign	13	51942563	51942563	Human	1	name , alternate_id
152147408	CV1653663	single nucleotide variant	NM_000053.4(ATP7B):c.4125-4C>A	Wilson disease [RCV002139008]	likely benign	13	51935033	51935033	Human	1	name
152119389	CV1664747	deletion	NM_000053.4(ATP7B):c.2576-5del	Wilson disease [RCV002117645]	likely benign	13	51950166	51950166	Human	1	name
152978129	CV1671423	single nucleotide variant	NM_000053.4(ATP7B):c.2865+6T>G	Wilson disease [RCV002227382]	uncertain significance	13	51949656	51949656	Human	1	name
9684421	CV167789	single nucleotide variant	NM_000053.4(ATP7B):c.2865+1G>A	Wilson disease [RCV000145266]\|not provided [RCV004700462]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51949661	51949661	Human	1	name
153001452	CV1680016	single nucleotide variant	NM_000053.4(ATP7B):c.3412+1G>C	Wilson disease [RCV002251695]	likely pathogenic	13	51942385	51942385	Human	1	name
153304560	CV1687136	single nucleotide variant	NM_000053.4(ATP7B):c.3700-3T>G	not provided [RCV002262424]	uncertain significance	13	51937682	51937682	Human		name
153349576	CV1693615	single nucleotide variant	NM_000053.4(ATP7B):c.3060+2T>C	Wilson disease [RCV005008508]\|not provided [RCV002275992]	pathogenic\|likely pathogenic	13	51946282	51946282	Human	1	name
155674588	CV1786326	single nucleotide variant	NM_000053.4(ATP7B):c.3557-2A>G	Inborn genetic diseases [RCV002454899]	likely pathogenic	13	51939195	51939195	Human	1	name
10041556	CV186880	single nucleotide variant	NM_000053.4(ATP7B):c.3556+1G>A	Wilson disease [RCV000169452]\|not provided [RCV003159558]	pathogenic\|likely pathogenic	13	51941080	51941080	Human	1	name
10041499	CV186887	single nucleotide variant	NM_000053.4(ATP7B):c.3244-2A>G	ATP7B-related disorder [RCV004730892]\|Wilson disease [RCV000169327]\|not provided [RCV003480072]	pathogenic\|likely pathogenic	13	51942556	51942556	Human	1	name , alternate_id
10041367	CV186894	single nucleotide variant	NM_000053.4(ATP7B):c.2731-2A>G	ATP7B-related disorder [RCV003927563]\|Inborn genetic diseases [RCV002433725]\|Wilson disease [RCV000169025]\|not provided [RCV000485754]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51949798	51949798	Human	2	name , alternate_id
10041383	CV186896	single nucleotide variant	NM_000053.4(ATP7B):c.2575+1G>C	Wilson disease [RCV000169063]\|not provided [RCV001582664]	pathogenic\|likely pathogenic	13	51950271	51950271	Human	1	name
10041585	CV186906	single nucleotide variant	NM_000053.4(ATP7B):c.1285+2T>A	Wilson disease [RCV000169532]\|not provided [RCV003480073]	pathogenic\|likely pathogenic	13	51973933	51973933	Human	1	name
156391618	CV1872892	single nucleotide variant	NM_000053.4(ATP7B):c.1870-4C>T	Wilson disease [RCV003051386]	likely benign	13	51961917	51961917	Human	1	name
156313543	CV1874650	single nucleotide variant	NM_000053.4(ATP7B):c.1946+1G>A	Wilson disease [RCV003062602]	likely pathogenic	13	51961836	51961836	Human	1	name
156326526	CV1880842	single nucleotide variant	NM_000053.4(ATP7B):c.2121+4T>C	Wilson disease [RCV003063435]	uncertain significance	13	51960144	51960144	Human	1	name
156199985	CV1886284	single nucleotide variant	NM_000053.4(ATP7B):c.3243+5G>C	Wilson disease [RCV003084180]	uncertain significance	13	51944104	51944104	Human	1	name
8557718	CV18889	single nucleotide variant	NM_000053.4(ATP7B):c.1708-1G>C	Developmental and epileptic encephalopathy 93 [RCV005411279]\|Wilson disease [RCV000004054]\|not provided [RCV001579816]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	13	51965034	51965034	Human	2	name
156073159	CV1889852	single nucleotide variant	NM_000053.4(ATP7B):c.4021+5G>C	Wilson disease [RCV003079608]	uncertain significance	13	51937271	51937271	Human	1	name
156347627	CV1893141	single nucleotide variant	NM_000053.4(ATP7B):c.2355+5C>T	Wilson disease [RCV003090726]	uncertain significance	13	51958306	51958306	Human	1	name
156150080	CV1895906	duplication	NM_000053.4(ATP7B):c.4021+3dup	Wilson disease [RCV003082522]	uncertain significance	13	51937272	51937273	Human	1	name
155960506	CV1912094	single nucleotide variant	NM_000053.4(ATP7B):c.1285+5G>A	Wilson disease [RCV002616709]	uncertain significance	13	51973930	51973930	Human	1	name
155955187	CV1915342	single nucleotide variant	NM_000053.4(ATP7B):c.1285+4C>T	Wilson disease [RCV002616436]	uncertain significance	13	51973931	51973931	Human	1	name
155963742	CV1931784	single nucleotide variant	NM_000053.4(ATP7B):c.3061-8T>C	Wilson disease [RCV002616856]	likely benign	13	51944299	51944299	Human	1	name
156441595	CV1940916	single nucleotide variant	NM_000053.4(ATP7B):c.4021+1G>A	Wilson disease [RCV003111923]	pathogenic\|likely pathogenic	13	51937275	51937275	Human	1	name
155917656	CV1981017	single nucleotide variant	NM_000053.4(ATP7B):c.1544-4C>T	Wilson disease [RCV002614395]	likely benign	13	51968611	51968611	Human	1	name
156414809	CV1983012	single nucleotide variant	NM_000053.4(ATP7B):c.4021+8G>A	Wilson disease [RCV002609374]	likely benign	13	51937268	51937268	Human	1	name
156212194	CV1983464	single nucleotide variant	NM_000053.4(ATP7B):c.2865+8G>A	Wilson disease [RCV002626118]	likely benign	13	51949654	51949654	Human	1	name
156207111	CV1990628	single nucleotide variant	NM_000053.4(ATP7B):c.4022-4C>G	Wilson disease [RCV002625942]	likely benign	13	51935699	51935699	Human	1	name
156349798	CV2005586	single nucleotide variant	NM_000053.4(ATP7B):c.3903+6C>A	Wilson disease [RCV002650799]	uncertain significance	13	51937470	51937470	Human	1	name
156372050	CV2007860	single nucleotide variant	NM_000053.4(ATP7B):c.4125-4C>G	Wilson disease [RCV002676983]	likely benign	13	51935033	51935033	Human	1	name
156105741	CV2008373	single nucleotide variant	NM_000053.4(ATP7B):c.3556+3A>G	Wilson disease [RCV002695472]\|not provided [RCV003481325]	uncertain significance	13	51941078	51941078	Human	1	name
156295754	CV2017046	single nucleotide variant	NM_000053.4(ATP7B):c.3557-4C>T	Wilson disease [RCV002715836]	likely benign	13	51939197	51939197	Human	1	name
156183547	CV2020582	duplication	NM_000053.4(ATP7B):c.1286-8dup	Wilson disease [RCV002710857]	benign	13	51970756	51970757	Human	1	name
156117427	CV2042900	single nucleotide variant	NM_000053.4(ATP7B):c.1870-7T>C	Wilson disease [RCV002800090]	likely benign	13	51961920	51961920	Human	1	name
156279085	CV2054794	single nucleotide variant	NM_000053.4(ATP7B):c.2576-9T>C	Wilson disease [RCV002832776]	likely benign	13	51950170	51950170	Human	1	name
156331007	CV2061340	single nucleotide variant	NM_000053.4(ATP7B):c.1285+3A>G	Wilson disease [RCV002810678]	uncertain significance	13	51973932	51973932	Human	1	name
155942761	CV2068372	single nucleotide variant	NM_000053.4(ATP7B):c.3244-8C>A	Wilson disease [RCV002839521]	likely benign	13	51942562	51942562	Human	1	name
155947601	CV2068915	single nucleotide variant	NM_000053.4(ATP7B):c.3557-7G>T	Wilson disease [RCV002862166]	likely benign	13	51939200	51939200	Human	1	name
156130745	CV2100897	single nucleotide variant	NM_000053.4(ATP7B):c.4124+1G>A	Wilson disease [RCV002889935]	pathogenic\|likely pathogenic	13	51935592	51935592	Human	1	name
156217065	CV2107106	single nucleotide variant	NM_000053.4(ATP7B):c.3557-1G>A	Wilson disease [RCV002918406]	likely pathogenic	13	51939194	51939194	Human	1	name
156239785	CV2152322	duplication	NM_000053.4(ATP7B):c.3061-6dup	Wilson disease [RCV003008058]	benign	13	51944296	51944297	Human	1	name
156342650	CV2176000	single nucleotide variant	NM_000053.4(ATP7B):c.2576-6G>C	Wilson disease [RCV003030368]	likely benign	13	51950167	51950167	Human	1	name
156103934	CV2180259	single nucleotide variant	NM_000053.4(ATP7B):c.3413-6G>C	Wilson disease [RCV003054827]	likely benign	13	51941230	51941230	Human	1	name
156448690	CV2402099	single nucleotide variant	NM_000053.4(ATP7B):c.1543+4A>G	Wilson disease [RCV003120258]	uncertain significance	13	51970488	51970488	Human	1	name
243056458	CV2418678	duplication	NM_000053.4(ATP7B):c.1946+5dup	not specified [RCV003155644]	uncertain significance	13	51961831	51961832	Human		name
329351579	CV2476560	single nucleotide variant	NM_000053.4(ATP7B):c.1947-2A>G	not provided [RCV003222792]	pathogenic	13	51960324	51960324	Human		name
329846966	CV2524065	single nucleotide variant	NM_000053.4(ATP7B):c.2356-2A>T	Wilson disease [RCV003226770]	likely pathogenic	13	51957609	51957609	Human	1	name
11551400	CV254861	single nucleotide variant	NM_000053.4(ATP7B):c.3557-7G>A	Wilson disease [RCV001394627]\|not specified [RCV000253000]	likely benign	13	51939200	51939200	Human	1	name
401944373	CV2831630	single nucleotide variant	NM_000053.4(ATP7B):c.3904-1G>A	Wilson disease [RCV003445295]	likely pathogenic	13	51937394	51937394	Human	1	name
401946156	CV2833547	single nucleotide variant	NM_000053.4(ATP7B):c.4124+1G>T	Wilson disease [RCV003464956]	likely pathogenic	13	51935592	51935592	Human	1	name
401946174	CV2833556	single nucleotide variant	NM_000053.4(ATP7B):c.2355+1G>A	Wilson disease [RCV003464965]	likely pathogenic	13	51958310	51958310	Human	1	name
401946057	CV2835640	single nucleotide variant	NM_000053.4(ATP7B):c.1544-2A>G	Wilson disease [RCV003464932]	pathogenic\|likely pathogenic	13	51968609	51968609	Human	1	name
401946072	CV2835647	single nucleotide variant	NM_000053.4(ATP7B):c.1543+1G>A	Wilson disease [RCV003464939]	pathogenic\|likely pathogenic	13	51970491	51970491	Human	1	name
401946076	CV2835649	single nucleotide variant	NM_000053.4(ATP7B):c.2121+1G>T	Wilson disease [RCV003464941]	pathogenic\|likely pathogenic	13	51960147	51960147	Human	1	name
401946091	CV2835656	single nucleotide variant	NM_000053.4(ATP7B):c.2447+5G>T	Wilson disease [RCV003464948]	likely pathogenic	13	51957511	51957511	Human	1	name
401961936	CV2844259	single nucleotide variant	NM_000053.4(ATP7B):c.1946+3A>G	not provided [RCV003482101]	uncertain significance	13	51961834	51961834	Human		name
404977812	CV2851582	single nucleotide variant	NM_000053.4(ATP7B):c.1870-1G>C	Wilson disease [RCV003486306]	likely pathogenic	13	51961914	51961914	Human	1	name
402467234	CV2862549	single nucleotide variant	NM_000053.4(ATP7B):c.3060+8T>G	Wilson disease [RCV003503492]	likely benign	13	51946276	51946276	Human	1	name
402467378	CV2862872	single nucleotide variant	NM_000053.4(ATP7B):c.1708-9G>A	Wilson disease [RCV003503529]	likely benign	13	51965042	51965042	Human	1	name
402470573	CV2885763	single nucleotide variant	NM_000053.4(ATP7B):c.2122-4T>C	Wilson disease [RCV003504236]	likely benign	13	51958548	51958548	Human	1	name
402471289	CV2899034	single nucleotide variant	NM_000053.4(ATP7B):c.3061-3C>A	Wilson disease [RCV003504574]	likely pathogenic	13	51944294	51944294	Human	1	name
402465720	CV2916963	single nucleotide variant	NM_000053.4(ATP7B):c.4124+9C>T	Wilson disease [RCV003503085]	likely benign	13	51935584	51935584	Human	1	name
402465512	CV2920128	duplication	NM_000053.4(ATP7B):c.3700-8dup	Wilson disease [RCV003503027]	benign	13	51937686	51937687	Human	1	name
402466018	CV2921156	single nucleotide variant	NM_000053.4(ATP7B):c.1947-8C>A	Wilson disease [RCV003503161]	likely benign	13	51960330	51960330	Human	1	name
405049348	CV2986574	single nucleotide variant	NM_000053.4(ATP7B):c.3700-7G>T	Wilson disease [RCV003610395]	likely benign	13	51937686	51937686	Human	1	name
405028826	CV2995219	single nucleotide variant	NM_000053.4(ATP7B):c.4022-8T>C	Wilson disease [RCV003608660]	likely benign	13	51935703	51935703	Human	1	name
405030199	CV3000747	single nucleotide variant	NM_000053.4(ATP7B):c.3413-5A>G	Wilson disease [RCV003608796]	likely benign	13	51941229	51941229	Human	1	name
405050324	CV3001043	single nucleotide variant	NM_000053.4(ATP7B):c.2576-5T>G	Wilson disease [RCV003610467]	likely benign	13	51950166	51950166	Human	1	name
405030377	CV3003928	single nucleotide variant	NM_000053.4(ATP7B):c.2575+8G>C	Wilson disease [RCV003608811]	likely benign	13	51950264	51950264	Human	1	name
405030544	CV3007882	single nucleotide variant	NM_000053.4(ATP7B):c.2122-9G>A	Wilson disease [RCV003608824]	likely benign	13	51958553	51958553	Human	1	name
405051143	CV3023960	single nucleotide variant	NM_000053.4(ATP7B):c.1285+8G>T	Wilson disease [RCV003610530]	likely benign	13	51973927	51973927	Human	1	name
405033242	CV3024959	single nucleotide variant	NM_000053.4(ATP7B):c.1285+7A>G	Wilson disease [RCV003609047]	likely benign	13	51973928	51973928	Human	1	name
405051090	CV3027318	single nucleotide variant	NM_000053.4(ATP7B):c.3061-4G>T	Wilson disease [RCV003610526]	likely benign	13	51944295	51944295	Human	1	name
405053871	CV3044193	single nucleotide variant	NM_000053.4(ATP7B):c.3413-9T>C	Wilson disease [RCV003610777]	likely benign	13	51941233	51941233	Human	1	name
405040015	CV3061656	single nucleotide variant	NM_000053.4(ATP7B):c.1285+9T>A	Wilson disease [RCV003609665]	likely benign	13	51973926	51973926	Human	1	name
405057042	CV3064074	single nucleotide variant	NM_000053.4(ATP7B):c.3243+8G>C	Wilson disease [RCV003610962]	likely benign	13	51944101	51944101	Human	1	name
405186145	CV3149038	single nucleotide variant	NM_000053.4(ATP7B):c.1869+1G>A	Wilson disease [RCV003842962]	likely pathogenic	13	51964871	51964871	Human	1	name
405189963	CV3149532	single nucleotide variant	NM_000053.4(ATP7B):c.4021+7A>C	Wilson disease [RCV003843258]	likely benign	13	51937269	51937269	Human	1	name
405255134	CV3171930	single nucleotide variant	NM_000053.4(ATP7B):c.2121+7A>G	Wilson disease [RCV003872053]	likely benign	13	51960141	51960141	Human	1	name
405695246	CV3230119	single nucleotide variant	NM_000053.4(ATP7B):c.3700-3T>C	Wilson disease [RCV004008037]	likely benign	13	51937682	51937682	Human	1	name
405695926	CV3230218	single nucleotide variant	NM_000053.4(ATP7B):c.1707+3A>G	Wilson disease [RCV004008137]	uncertain significance	13	51968441	51968441	Human	1	name
405731960	CV3231546	single nucleotide variant	NM_000053.4(ATP7B):c.3699+2T>C	Wilson disease [RCV004013946]	likely pathogenic	13	51939049	51939049	Human	1	name
405756679	CV3232998	single nucleotide variant	NM_000053.4(ATP7B):c.1285+6T>A	Wilson disease [RCV004016949]	uncertain significance	13	51973929	51973929	Human	1	name
405752973	CV3234452	single nucleotide variant	NM_000053.4(ATP7B):c.1947-6T>C	Wilson disease [RCV004016502]	likely benign	13	51960328	51960328	Human	1	name
405753279	CV3234491	single nucleotide variant	NM_000053.4(ATP7B):c.3412+4T>C	Wilson disease [RCV004016541]	likely benign	13	51942382	51942382	Human	1	name
405747063	CV3234887	single nucleotide variant	NM_000053.4(ATP7B):c.1870-3A>C	Wilson disease [RCV004015762]	uncertain significance	13	51961916	51961916	Human	1	name
405869341	CV3396498	single nucleotide variant	NM_000053.4(ATP7B):c.2731-2A>T	Wilson disease [RCV004560369]	likely pathogenic	13	51949798	51949798	Human	1	name
405870221	CV3399803	single nucleotide variant	NM_000053.4(ATP7B):c.1707+5G>A	Wilson disease [RCV004573950]	pathogenic	13	51968439	51968439	Human	1	name
405870226	CV3399805	single nucleotide variant	NM_000053.4(ATP7B):c.2448-1G>A	Wilson disease [RCV004573952]	pathogenic	13	51950400	51950400	Human	1	name
596932701	CV3539328	single nucleotide variant	NM_000053.4(ATP7B):c.2865+6T>C	Wilson disease [RCV005105098]\|not provided [RCV004793951]	uncertain significance	13	51949656	51949656	Human	1	name
596930703	CV3540270	single nucleotide variant	NM_000053.4(ATP7B):c.1869+1G>T	Wilson disease [RCV004805143]\|not provided [RCV004792257]	likely pathogenic\|uncertain significance	13	51964871	51964871	Human	1	name
596943249	CV3546580	single nucleotide variant	NM_000053.4(ATP7B):c.3556+5C>T	Wilson disease [RCV004807704]	uncertain significance	13	51941076	51941076	Human	1	name
596943334	CV3546627	single nucleotide variant	NM_000053.4(ATP7B):c.3413-1G>C	Wilson disease [RCV004807751]	uncertain significance	13	51941225	51941225	Human	1	name
596943511	CV3546646	single nucleotide variant	NM_000053.4(ATP7B):c.3244-9C>G	Wilson disease [RCV004807771]	uncertain significance	13	51942563	51942563	Human	1	name
12740054	CV358216	single nucleotide variant	NM_000053.4(ATP7B):c.3904-2A>G	Wilson disease [RCV000411074]\|not provided [RCV001507824]	pathogenic	13	51937395	51937395	Human	1	name
12740273	CV358226	single nucleotide variant	NM_000053.4(ATP7B):c.2730+1G>A	Wilson disease [RCV000411590]	pathogenic\|likely pathogenic	13	51950006	51950006	Human	1	name
12740197	CV358227	deletion	NM_000053.4(ATP7B):c.2447+1del	Wilson disease [RCV000411401]	likely pathogenic	13	51957515	51957515	Human	1	name
12740167	CV358232	single nucleotide variant	NM_000053.4(ATP7B):c.1708-1G>A	Wilson disease [RCV000411333]	pathogenic	13	51965034	51965034	Human	1	name
12739271	CV358233	single nucleotide variant	NM_000053.4(ATP7B):c.1708-2A>G	Wilson disease [RCV000409239]	pathogenic\|likely pathogenic	13	51965035	51965035	Human	1	name
597686351	CV3714414	single nucleotide variant	NM_000053.4(ATP7B):c.3699+1G>T	Wilson disease [RCV005006924]	likely pathogenic	13	51939050	51939050	Human	1	name
597686641	CV3714444	single nucleotide variant	NM_000053.4(ATP7B):c.2122-6T>C	Wilson disease [RCV005006951]	likely pathogenic	13	51958550	51958550	Human	1	name
597686683	CV3714449	single nucleotide variant	NM_000053.4(ATP7B):c.1707+9T>G	Wilson disease [RCV005006955]	uncertain significance	13	51968435	51968435	Human	1	name
12846297	CV372855	single nucleotide variant	NM_000053.4(ATP7B):c.3243+5G>A	Wilson disease [RCV001785612]\|not provided [RCV000441386]\|not specified [RCV002298584]	conflicting interpretations of pathogenicity\|uncertain significance	13	51944104	51944104	Human	1	name
12845954	CV373861	single nucleotide variant	NM_000053.4(ATP7B):c.1947-4C>T	Wilson disease [RCV000631244]\|not provided [RCV001721333]\|not specified [RCV000440735]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51960326	51960326	Human	1	name
597874617	CV3766195	single nucleotide variant	NM_000053.4(ATP7B):c.2731-4A>G	Wilson disease [RCV005108327]	likely benign	13	51949800	51949800	Human	1	name
597867935	CV3838813	single nucleotide variant	NM_000053.4(ATP7B):c.1543+7G>C	Wilson disease [RCV005176109]	likely benign	13	51970485	51970485	Human	1	name
597859893	CV3850298	single nucleotide variant	NM_000053.4(ATP7B):c.2576-4C>A	Wilson disease [RCV005195631]	likely benign	13	51950165	51950165	Human	1	name
597831578	CV3863859	single nucleotide variant	NM_000053.4(ATP7B):c.1544-3C>G	Wilson disease [RCV005208273]	uncertain significance	13	51968610	51968610	Human	1	name
598127433	CV3882661	single nucleotide variant	NM_000053.4(ATP7B):c.4124+1G>C	Wilson disease [RCV005234191]	likely pathogenic	13	51935592	51935592	Human	1	name
598124089	CV3884148	single nucleotide variant	NM_000053.4(ATP7B):c.3412+1G>T	Wilson disease [RCV005234916]	likely pathogenic	13	51942385	51942385	Human	1	name
8569231	CV44368	single nucleotide variant	NM_000053.4(ATP7B):c.1707+9T>C	Wilson disease [RCV000029353]\|not provided [RCV001579397]\|not specified [RCV000249095]	benign\|likely benign	13	51968435	51968435	Human	1	name
8569232	CV44369	single nucleotide variant	NM_000053.4(ATP7B):c.2122-8T>G	ATP7B-related disorder [RCV003398570]\|Wilson disease [RCV000029354]\|not provided [RCV001508345]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	13	51958552	51958552	Human	1	name , alternate_id
8569249	CV44386	single nucleotide variant	NM_000053.4(ATP7B):c.3557-6C>T	Wilson disease [RCV000029371]\|not provided [RCV000488125]\|not specified [RCV000248416]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51939199	51939199	Human	1	name
8569254	CV44391	single nucleotide variant	NM_000053.4(ATP7B):c.3903+6C>T	Wilson disease [RCV000029376]\|not provided [RCV000999513]\|not specified [RCV000078054]	benign\|likely benign\|uncertain significance	13	51937470	51937470	Human	1	name
13518033	CV487515	single nucleotide variant	NM_000053.4(ATP7B):c.3556+1G>T	Wilson disease [RCV000587514]	pathogenic\|likely pathogenic	13	51941080	51941080	Human	1	name
13521723	CV487603	single nucleotide variant	NM_000053.4(ATP7B):c.2447+8A>G	Wilson disease [RCV001273298]\|not specified [RCV005407764]	likely benign\|uncertain significance	13	51957508	51957508	Human	1	name
13518099	CV487611	single nucleotide variant	NM_000053.4(ATP7B):c.1946+6T>C	Wilson disease [RCV000588787]\|not provided [RCV003480706]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51961831	51961831	Human	1	name
13518129	CV487771	single nucleotide variant	NM_000053.4(ATP7B):c.1708-5T>G	Wilson disease [RCV000589652]	pathogenic\|likely pathogenic	13	51965038	51965038	Human	1	name
13532470	CV512064	single nucleotide variant	NM_000053.4(ATP7B):c.1285+5G>T	ATP7B-related disorder [RCV003980208]\|Inborn genetic diseases [RCV000624233]\|Wilson disease [RCV001004593]\|not provided [RCV000996144]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51973930	51973930	Human	2	name , alternate_id
13627200	CV527820	single nucleotide variant	NM_000053.4(ATP7B):c.4021+3A>G	Wilson disease [RCV000631252]\|not provided [RCV001597189]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51937273	51937273	Human	1	name
13613552	CV528321	single nucleotide variant	NM_000053.4(ATP7B):c.4124+8C>T	Wilson disease [RCV001490956]	likely benign	13	51935585	51935585	Human	1	name
13782718	CV546963	single nucleotide variant	NM_000053.4(ATP7B):c.4022-2A>C	Wilson disease [RCV000669218]	likely pathogenic	13	51935697	51935697	Human	1	name
13786895	CV546999	single nucleotide variant	NM_000053.4(ATP7B):c.3700-1G>A	Wilson disease [RCV000664525]	pathogenic\|likely pathogenic	13	51937680	51937680	Human	1	name
13789177	CV547053	single nucleotide variant	NM_000053.4(ATP7B):c.2356-1G>A	Wilson disease [RCV000674374]	likely pathogenic	13	51957608	51957608	Human	1	name
13782876	CV547073	single nucleotide variant	NM_000053.4(ATP7B):c.1544-2A>C	Wilson disease [RCV000669421]	likely pathogenic	13	51968609	51968609	Human	1	name
13788807	CV547184	single nucleotide variant	NM_000053.4(ATP7B):c.3243+1G>A	Wilson disease [RCV000674164]\|not provided [RCV003480757]	pathogenic\|likely pathogenic	13	51944108	51944108	Human	1	name
13789330	CV547216	single nucleotide variant	NM_000053.4(ATP7B):c.2356-1G>C	Wilson disease [RCV000665943]	likely pathogenic	13	51957608	51957608	Human	1	name
13785744	CV547340	single nucleotide variant	NM_000053.4(ATP7B):c.2575+5G>C	Wilson disease [RCV000672253]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51950267	51950267	Human	1	name
13786878	CV547341	single nucleotide variant	NM_000053.4(ATP7B):c.2575+1G>A	Wilson disease [RCV000673153]	pathogenic\|likely pathogenic	13	51950271	51950271	Human	1	name
13790299	CV547344	single nucleotide variant	NM_000053.4(ATP7B):c.2447+2T>G	Wilson disease [RCV000674966]	likely pathogenic	13	51957514	51957514	Human	1	name
13791003	CV547349	single nucleotide variant	NM_000053.4(ATP7B):c.2355+4A>G	Inborn genetic diseases [RCV002442394]\|Wilson disease [RCV000666959]	conflicting interpretations of pathogenicity\|uncertain significance	13	51958307	51958307	Human	2	name
13792119	CV547565	single nucleotide variant	NM_000053.4(ATP7B):c.4125-2A>G	Wilson disease [RCV000668311]	likely pathogenic\|conflicting interpretations of pathogenicity	13	51935031	51935031	Human	1	name
13791085	CV547650	single nucleotide variant	NM_000053.4(ATP7B):c.2576-2A>G	Wilson disease [RCV000667057]	likely pathogenic	13	51950163	51950163	Human	1	name
13790091	CV547699	single nucleotide variant	NM_000053.4(ATP7B):c.2122-1G>A	Wilson disease [RCV000666348]	pathogenic\|likely pathogenic	13	51958545	51958545	Human	1	name
13791762	CV547701	single nucleotide variant	NM_000053.4(ATP7B):c.2121+3A>G	Wilson disease [RCV000667868]	pathogenic\|likely pathogenic	13	51960145	51960145	Human	1	name
13828831	CV581769	single nucleotide variant	NM_000053.4(ATP7B):c.1543+1G>T	ATP7B-related disorder [RCV003411660]\|Inborn genetic diseases [RCV002397500]\|Wilson disease [RCV000721966]	pathogenic\|likely pathogenic	13	51970491	51970491	Human	2	name , alternate_id
14396456	CV612356	single nucleotide variant	NM_000053.4(ATP7B):c.2866-2A>G	Wilson disease [RCV000761418]	pathogenic	13	51946480	51946480	Human	1	name
14693060	CV620859	single nucleotide variant	NM_000053.4(ATP7B):c.4125-1G>A	Wilson disease [RCV000778399]	uncertain significance	13	51935030	51935030	Human		name
14711046	CV652542	single nucleotide variant	NM_000053.4(ATP7B):c.3243+2T>C	Wilson disease [RCV000816422]\|not provided [RCV004792524]	pathogenic\|likely pathogenic	13	51944107	51944107	Human	1	name
14706570	CV652545	duplication	NM_000053.4(ATP7B):c.1707+2dup	Wilson disease [RCV000804210]	conflicting interpretations of pathogenicity\|uncertain significance	13	51968441	51968442	Human	1	name
14704411	CV652845	single nucleotide variant	NM_000053.4(ATP7B):c.2122-3C>T	Wilson disease [RCV000797318]\|not specified [RCV001193093]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51958547	51958547	Human	1	name
14730881	CV666333	single nucleotide variant	NM_000053.4(ATP7B):c.51+110G>A	Wilson disease [RCV001533481]\|not provided [RCV000835876]	benign\|likely benign	13	52011177	52011177	Human	1	name
15158150	CV760083	single nucleotide variant	NM_000053.4(ATP7B):c.2121+7A>T	Wilson disease [RCV000925011]	likely benign	13	51960141	51960141	Human	1	name
15136362	CV775950	single nucleotide variant	NM_000053.4(ATP7B):c.3557-8C>T	Wilson disease [RCV001272284]\|not provided [RCV000943066]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51939201	51939201	Human	1	name
15171547	CV776227	single nucleotide variant	NM_000053.4(ATP7B):c.3699+9C>T	Wilson disease [RCV000927927]	likely benign	13	51939042	51939042	Human	1	name
15132465	CV776233	single nucleotide variant	NM_000053.4(ATP7B):c.2576-6G>A	Wilson disease [RCV000942404]	likely benign	13	51950167	51950167	Human	1	name
15123746	CV787869	single nucleotide variant	NM_000053.4(ATP7B):c.2730+9G>A	Wilson disease [RCV001456507]	likely benign	13	51949998	51949998	Human	1	name
15145796	CV787961	single nucleotide variant	NM_000053.4(ATP7B):c.4124+8C>G	Wilson disease [RCV000983729]	likely benign	13	51935585	51935585	Human	1	name
15126530	CV787963	single nucleotide variant	NM_000053.4(ATP7B):c.3904-9C>T	Wilson disease [RCV001451266]	likely benign	13	51937402	51937402	Human	1	name
21403696	CV796947	single nucleotide variant	NM_000053.4(ATP7B):c.3557-3C>T	not provided [RCV000999516]	uncertain significance	13	51939196	51939196	Human		name
21075290	CV796952	single nucleotide variant	NM_000053.4(ATP7B):c.2448-4G>T	Wilson disease [RCV002550688]\|not provided [RCV000996140]\|not specified [RCV001779100]	likely benign\|uncertain significance	13	51950403	51950403	Human	1	name
21405904	CV799745	deletion	NM_000053.4(ATP7B):c.2866-2del	Wilson disease [RCV001001375]	pathogenic\|likely pathogenic	13	51946480	51946480	Human	1	name
21405832	CV799748	single nucleotide variant	NM_000053.4(ATP7B):c.1708-3C>G	Wilson disease [RCV001001251]	uncertain significance	13	51965036	51965036	Human	1	name
26891061	CV851541	single nucleotide variant	NM_000053.4(ATP7B):c.3061-2A>G	Wilson disease [RCV001046279]\|not provided [RCV004597952]	pathogenic\|likely pathogenic	13	51944293	51944293	Human	1	name
26923466	CV851979	single nucleotide variant	NM_000053.4(ATP7B):c.2447+1G>T	Wilson disease [RCV001064049]\|not provided [RCV003159560]	pathogenic\|likely pathogenic	13	51957515	51957515	Human	1	name
28884993	CV860067	single nucleotide variant	NM_000053.4(ATP7B):c.3243+4C>T	Wilson disease [RCV001862698]	uncertain significance	13	51944105	51944105	Human	1	name
34895885	CV917515	single nucleotide variant	NM_000053.4(ATP7B):c.4125-1G>C	Wilson disease [RCV001193092]	likely pathogenic	13	51935030	51935030	Human	1	name
34896338	CV917516	single nucleotide variant	NM_000053.4(ATP7B):c.1947-5T>C	not specified [RCV001193696]	uncertain significance	13	51960327	51960327	Human		name
38483140	CV940293	single nucleotide variant	NM_000053.4(ATP7B):c.3060+5G>T	Wilson disease [RCV001207532]	pathogenic\|likely pathogenic	13	51946279	51946279	Human	1	name
40906270	CV979388	single nucleotide variant	NM_000053.4(ATP7B):c.3700-7G>A	Wilson disease [RCV001279623]	likely benign\|uncertain significance	13	51937686	51937686	Human	1	name
40906271	CV979389	single nucleotide variant	NM_000053.4(ATP7B):c.3699+3A>G	Wilson disease [RCV001279624]	uncertain significance	13	51939048	51939048	Human	1	name
40906276	CV979394	single nucleotide variant	NM_000053.4(ATP7B):c.2575+4A>G	Wilson disease [RCV001279629]	uncertain significance	13	51950268	51950268	Human	1	name
40906279	CV979397	single nucleotide variant	NM_000053.4(ATP7B):c.2356-9A>G	Wilson disease [RCV001279632]	likely benign\|uncertain significance	13	51957616	51957616	Human	1	name
40906281	CV979399	single nucleotide variant	NM_000053.4(ATP7B):c.2121+6T>G	Wilson disease [RCV001279634]	uncertain significance	13	51960142	51960142	Human	1	name
40906282	CV979400	single nucleotide variant	NM_000053.4(ATP7B):c.2121+5A>G	Wilson disease [RCV001279635]	uncertain significance	13	51960143	51960143	Human	1	name
41407440	CV980186	single nucleotide variant	NM_000053.4(ATP7B):c.3412+1G>A	Wilson disease [RCV001280567]\|not provided [RCV003481050]	pathogenic\|likely pathogenic	13	51942385	51942385	Human	1	name
126758700	CV995642	single nucleotide variant	NM_000053.4(ATP7B):c.2122-3C>G	Wilson disease [RCV001299268]	uncertain significance	13	51958547	51958547	Human	1	name
127262858	CV1101937	duplication	NM_000053.4(ATP7B):c.3413-10dup	ATP7B-related disorder [RCV004751981]\|Wilson disease [RCV001439149]	likely benign	13	51941230	51941231	Human	1	name , alternate_id
127289160	CV1123420	single nucleotide variant	NM_000053.4(ATP7B):c.2355+10G>C	Wilson disease [RCV001450807]	likely benign	13	51958301	51958301	Human	1	name
127292756	CV1162105	single nucleotide variant	NM_000053.4(ATP7B):c.1708-34G>A	Wilson disease [RCV001527072]	likely pathogenic	13	51965067	51965067	Human	1	name
150332155	CV1172542	single nucleotide variant	NM_000053.4(ATP7B):c.3060+63A>T	not provided [RCV001538925]	likely benign	13	51946221	51946221	Human		name
150412484	CV1177726	single nucleotide variant	NM_000053.4(ATP7B):c.3243+82C>T	not provided [RCV001547535]	likely benign	13	51944027	51944027	Human		name
150428709	CV1188058	single nucleotide variant	NM_000053.4(ATP7B):c.4125-70A>G	not provided [RCV001562621]	likely benign	13	51935099	51935099	Human		name
150429242	CV1188059	single nucleotide variant	NM_000053.4(ATP7B):c.2355+89A>G	not provided [RCV001563339]	likely benign	13	51958222	51958222	Human		name
150421194	CV1194775	single nucleotide variant	NM_000053.4(ATP7B):c.1946+92G>A	not provided [RCV001570440]	likely benign	13	51961745	51961745	Human		name
150485438	CV1273952	single nucleotide variant	NM_000053.4(ATP7B):c.1543+51G>A	not provided [RCV001698721]	benign	13	51970441	51970441	Human		name
151663128	CV1330947	single nucleotide variant	NM_000053.4(ATP7B):c.1543+15C>G	Wilson disease [RCV003772348]\|not specified [RCV001825125]	likely benign\|uncertain significance	13	51970477	51970477	Human	1	name
151777341	CV1454112	single nucleotide variant	NM_000053.4(ATP7B):c.3412+15T>A	Wilson disease [RCV001896915]	likely benign\|uncertain significance	13	51942371	51942371	Human	1	name
151718419	CV1506622	single nucleotide variant	NM_000053.4(ATP7B):c.2121+19G>T	Wilson disease [RCV001909338]	likely benign\|uncertain significance	13	51960129	51960129	Human	1	name
152163138	CV1537617	single nucleotide variant	NM_000053.4(ATP7B):c.3699+17T>G	Wilson disease [RCV002160001]	likely benign	13	51939034	51939034	Human	1	name
152059057	CV1540415	single nucleotide variant	NM_000053.4(ATP7B):c.4021+14A>G	Wilson disease [RCV002109891]	likely benign	13	51937262	51937262	Human	1	name
152148822	CV1551979	single nucleotide variant	NM_000053.4(ATP7B):c.1707+17C>T	Wilson disease [RCV002157854]	likely benign	13	51968427	51968427	Human	1	name
152078331	CV1557721	single nucleotide variant	NM_000053.4(ATP7B):c.3412+18C>A	Wilson disease [RCV002170223]	likely benign	13	51942368	51942368	Human	1	name
152091836	CV1567676	single nucleotide variant	NM_000053.4(ATP7B):c.3243+17G>A	Wilson disease [RCV002212833]	likely benign	13	51944092	51944092	Human	1	name
152083311	CV1576782	single nucleotide variant	NM_000053.4(ATP7B):c.3556+20T>C	Wilson disease [RCV002193305]	likely benign	13	51941061	51941061	Human	1	name
152035251	CV1582993	single nucleotide variant	NM_000053.4(ATP7B):c.2448-16G>A	Wilson disease [RCV002106877]	likely benign	13	51950415	51950415	Human	1	name
152119099	CV1589115	single nucleotide variant	NM_000053.4(ATP7B):c.3412+10G>C	Wilson disease [RCV002216538]	likely benign	13	51942376	51942376	Human	1	name
152118811	CV1593546	single nucleotide variant	NM_000053.4(ATP7B):c.2731-14T>C	Wilson disease [RCV002097866]	likely benign	13	51949810	51949810	Human	1	name
152152074	CV1598419	single nucleotide variant	NM_000053.4(ATP7B):c.3412+10G>A	Wilson disease [RCV002121893]	likely benign	13	51942376	51942376	Human	1	name
152118334	CV1602523	single nucleotide variant	NM_000053.4(ATP7B):c.1869+16A>G	Wilson disease [RCV002117503]	likely benign	13	51964856	51964856	Human	1	name
152129509	CV1607785	single nucleotide variant	NM_000053.4(ATP7B):c.1946+10A>G	Wilson disease [RCV002176611]	likely benign	13	51961827	51961827	Human	1	name
152132099	CV1621287	single nucleotide variant	NM_000053.4(ATP7B):c.4124+14G>A	Wilson disease [RCV002218210]	likely benign	13	51935579	51935579	Human	1	name
152173189	CV1637562	single nucleotide variant	NM_000053.4(ATP7B):c.3060+10T>C	Wilson disease [RCV002162717]	likely benign	13	51946274	51946274	Human	1	name
152037034	CV1646224	single nucleotide variant	NM_000053.4(ATP7B):c.4124+10C>T	Wilson disease [RCV002205763]	likely benign	13	51935583	51935583	Human	1	name
152092948	CV1648508	single nucleotide variant	NM_000053.4(ATP7B):c.3556+11C>T	Wilson disease [RCV002077955]\|not specified [RCV005238194]	likely benign	13	51941070	51941070	Human	1	name
152116525	CV1653856	single nucleotide variant	NM_000053.4(ATP7B):c.2355+10G>T	Wilson disease [RCV002153724]	likely benign	13	51958301	51958301	Human	1	name
152154247	CV1667864	single nucleotide variant	NM_000053.4(ATP7B):c.2576-30A>G	not provided [RCV002221757]	likely benign	13	51950191	51950191	Human		name
9684418	CV167785	single nucleotide variant	NM_000053.4(ATP7B):c.2355+13T>G	Wilson disease [RCV000607602]\|not provided [RCV000586589]\|not specified [RCV000145262]	benign\|likely benign\|conflicting interpretations of pathogenicity	13	51958298	51958298	Human	1	name
156408360	CV1869982	single nucleotide variant	NM_000053.4(ATP7B):c.4022-13C>T	Wilson disease [RCV003071237]	likely benign	13	51935708	51935708	Human	1	name
156408361	CV1869983	single nucleotide variant	NM_000053.4(ATP7B):c.4022-18G>C	Wilson disease [RCV003071238]	likely benign	13	51935713	51935713	Human	1	name
156390042	CV1872570	single nucleotide variant	NM_000053.4(ATP7B):c.3243+16C>T	Wilson disease [RCV003051216]	likely benign	13	51944093	51944093	Human	1	name
156390803	CV1872721	single nucleotide variant	NM_000053.4(ATP7B):c.3061-20G>A	Wilson disease [RCV003051295]	likely benign	13	51944311	51944311	Human	1	name
156359542	CV1874019	single nucleotide variant	NM_000053.4(ATP7B):c.1946+16A>C	Wilson disease [RCV003065512]	likely benign	13	51961821	51961821	Human	1	name
156409413	CV1874140	single nucleotide variant	NM_000053.4(ATP7B):c.3060+16G>A	Wilson disease [RCV003071662]	likely benign	13	51946268	51946268	Human	1	name
156255411	CV1875175	single nucleotide variant	NM_000053.4(ATP7B):c.4125-15G>C	Wilson disease [RCV003060173]	likely benign	13	51935044	51935044	Human	1	name
156394351	CV1876359	single nucleotide variant	NM_000053.4(ATP7B):c.4125-15G>A	Wilson disease [RCV003068407]	likely benign	13	51935044	51935044	Human	1	name
156399294	CV1877454	single nucleotide variant	NM_000053.4(ATP7B):c.3413-20C>G	Wilson disease [RCV003068971]	pathogenic\|likely pathogenic	13	51941244	51941244	Human	1	name
156054543	CV1882036	single nucleotide variant	NM_000053.4(ATP7B):c.1544-13C>G	Wilson disease [RCV003079001]	likely benign	13	51968620	51968620	Human	1	name
156381429	CV1889844	single nucleotide variant	NM_000053.4(ATP7B):c.2356-18A>G	Wilson disease [RCV003093306]	likely benign	13	51957625	51957625	Human	1	name
156357922	CV1891276	single nucleotide variant	NM_000053.4(ATP7B):c.4022-20G>A	Wilson disease [RCV003091490]	likely benign	13	51935715	51935715	Human	1	name
156346796	CV1892971	single nucleotide variant	NM_000053.4(ATP7B):c.3243+15G>C	Wilson disease [RCV003090680]	likely benign	13	51944094	51944094	Human	1	name
155992610	CV1894477	single nucleotide variant	NM_000053.4(ATP7B):c.2355+11C>G	Wilson disease [RCV003076184]	likely benign	13	51958300	51958300	Human	1	name
156405948	CV1894627	single nucleotide variant	NM_000053.4(ATP7B):c.3413-11C>G	Wilson disease [RCV003070184]	likely benign	13	51941235	51941235	Human	1	name
156149384	CV1895859	single nucleotide variant	NM_000053.4(ATP7B):c.2448-17A>C	Wilson disease [RCV003082496]	likely benign	13	51950416	51950416	Human	1	name
156102613	CV1916990	single nucleotide variant	NM_000053.4(ATP7B):c.3244-10A>G	Wilson disease [RCV002592332]	likely benign	13	51942564	51942564	Human	1	name
156354799	CV1920994	single nucleotide variant	NM_000053.4(ATP7B):c.2730+13T>A	Wilson disease [RCV002632246]	likely benign	13	51949994	51949994	Human	1	name
156372815	CV1923764	single nucleotide variant	NM_000053.4(ATP7B):c.2576-15C>G	Wilson disease [RCV002633555]	likely benign	13	51950176	51950176	Human	1	name
156283478	CV1929599	single nucleotide variant	NM_000053.4(ATP7B):c.1946+13C>T	Wilson disease [RCV002628515]	likely benign	13	51961824	51961824	Human	1	name
156151598	CV1934348	single nucleotide variant	NM_000053.4(ATP7B):c.2575+17C>T	Wilson disease [RCV002663912]	likely benign	13	51950255	51950255	Human	1	name
156445155	CV1945238	single nucleotide variant	NM_000053.4(ATP7B):c.3557-12G>T	Wilson disease [RCV003116092]	likely benign	13	51939205	51939205	Human	1	name
156397148	CV1965644	single nucleotide variant	NM_000053.4(ATP7B):c.3904-17G>A	Wilson disease [RCV002584483]	likely benign	13	51937410	51937410	Human	1	name
156179788	CV1978773	single nucleotide variant	NM_000053.4(ATP7B):c.3904-15G>A	Wilson disease [RCV002595028]	likely benign	13	51937408	51937408	Human	1	name
156402874	CV1988771	single nucleotide variant	NM_000053.4(ATP7B):c.3557-16G>A	Wilson disease [RCV002605790]	likely benign	13	51939209	51939209	Human	1	name
156161915	CV2009567	duplication	NM_000053.4(ATP7B):c.4022-10dup	Wilson disease [RCV002710203]	likely benign	13	51935704	51935705	Human	1	name
156314529	CV2017895	single nucleotide variant	NM_000053.4(ATP7B):c.3061-12T>G	Wilson disease [RCV002671825]	uncertain significance	13	51944303	51944303	Human	1	name
156184526	CV2033766	single nucleotide variant	NM_000053.4(ATP7B):c.4021+11C>G	Wilson disease [RCV002765717]	likely benign	13	51937265	51937265	Human	1	name
156020845	CV2043146	single nucleotide variant	NM_000053.4(ATP7B):c.1543+10G>T	Wilson disease [RCV002780640]	likely benign	13	51970482	51970482	Human	1	name
155937437	CV2071526	single nucleotide variant	NM_000053.4(ATP7B):c.3904-19G>A	Wilson disease [RCV002839180]	likely benign	13	51937412	51937412	Human	1	name
155989508	CV2090660	single nucleotide variant	NM_000053.4(ATP7B):c.1707+18G>A	Wilson disease [RCV002882324]\|not specified [RCV005239524]	likely benign	13	51968426	51968426	Human	1	name
156090567	CV2092334	single nucleotide variant	NM_000053.4(ATP7B):c.3699+16G>A	Wilson disease [RCV002913021]\|not specified [RCV005239530]	likely benign	13	51939035	51939035	Human	1	name
156212779	CV2114566	single nucleotide variant	NM_000053.4(ATP7B):c.3413-20C>T	Wilson disease [RCV002932130]	likely benign	13	51941244	51941244	Human	1	name
156297031	CV2119291	single nucleotide variant	NM_000053.4(ATP7B):c.3556+12T>C	Wilson disease [RCV002961967]	likely benign	13	51941069	51941069	Human	1	name
156241199	CV2129711	single nucleotide variant	NM_000053.4(ATP7B):c.3243+15G>T	Wilson disease [RCV002958876]	likely benign	13	51944094	51944094	Human	1	name
156260978	CV2132881	single nucleotide variant	NM_000053.4(ATP7B):c.3244-18C>A	Wilson disease [RCV003008923]	likely benign	13	51942572	51942572	Human	1	name
156020261	CV2137591	single nucleotide variant	NM_000053.4(ATP7B):c.3699+18T>G	Wilson disease [RCV003018195]	likely benign	13	51939033	51939033	Human	1	name
156239444	CV2183926	single nucleotide variant	NM_000053.4(ATP7B):c.2865+11T>A	Wilson disease [RCV003059604]	likely benign	13	51949651	51949651	Human	1	name
156448562	CV2401968	single nucleotide variant	NM_000053.4(ATP7B):c.1707+17C>A	Wilson disease [RCV003120127]\|not specified [RCV005419593]	likely benign\|conflicting interpretations of pathogenicity	13	51968427	51968427	Human	1	name
11546165	CV254860	single nucleotide variant	NM_000053.4(ATP7B):c.4021+50G>C	Wilson disease [RCV001533467]\|not provided [RCV000835504]\|not specified [RCV000246105]	benign	13	51937226	51937226	Human	1	name
11551641	CV254866	single nucleotide variant	NM_000053.4(ATP7B):c.2448-25G>A	Wilson disease [RCV001000023]\|not provided [RCV000835501]\|not specified [RCV000253301]	benign	13	51950424	51950424	Human	1	name
11551052	CV254871	single nucleotide variant	NM_000053.4(ATP7B):c.1543+14G>A	Wilson disease [RCV000286518]\|not specified [RCV000252542]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51970478	51970478	Human	1	name
402467604	CV2860350	single nucleotide variant	NM_000053.4(ATP7B):c.3556+16G>T	Wilson disease [RCV003503593]	likely benign	13	51941065	51941065	Human	1	name
402465003	CV2861450	single nucleotide variant	NM_000053.4(ATP7B):c.2575+10C>T	Wilson disease [RCV003502893]	likely benign	13	51950262	51950262	Human	1	name
402468839	CV2870074	single nucleotide variant	NM_000053.4(ATP7B):c.1544-20C>A	Wilson disease [RCV003503956]	likely benign	13	51968627	51968627	Human	1	name
402468168	CV2871800	single nucleotide variant	NM_000053.4(ATP7B):c.2355+16G>A	Wilson disease [RCV003503774]	likely benign	13	51958295	51958295	Human	1	name
402468112	CV2875191	single nucleotide variant	NM_000053.4(ATP7B):c.1947-11T>G	Wilson disease [RCV003503760]	likely benign	13	51960333	51960333	Human	1	name
402468722	CV2880196	single nucleotide variant	NM_000053.4(ATP7B):c.4022-18G>A	Wilson disease [RCV003503925]	likely benign	13	51935713	51935713	Human	1	name
402468733	CV2880344	single nucleotide variant	NM_000053.4(ATP7B):c.1543+19T>C	Wilson disease [RCV003503928]	likely benign	13	51970473	51970473	Human	1	name
402470007	CV2885827	single nucleotide variant	NM_000053.4(ATP7B):c.1870-20C>T	Wilson disease [RCV003504276]	likely benign	13	51961933	51961933	Human	1	name
402470669	CV2890445	duplication	NM_000053.4(ATP7B):c.3557-19dup	Wilson disease [RCV003504431]	likely benign	13	51939211	51939212	Human	1	name
402470824	CV2894352	single nucleotide variant	NM_000053.4(ATP7B):c.3244-17T>G	Wilson disease [RCV003504478]	likely benign	13	51942571	51942571	Human	1	name
405131073	CV2896028	single nucleotide variant	NM_000053.4(ATP7B):c.3903+17C>G	Wilson disease [RCV003502143]	likely benign	13	51937459	51937459	Human	1	name
405132624	CV2897281	single nucleotide variant	NM_000053.4(ATP7B):c.2355+10G>A	Wilson disease [RCV003502306]	likely benign	13	51958301	51958301	Human	1	name
405130868	CV2899791	single nucleotide variant	NM_000053.4(ATP7B):c.3413-16A>G	Wilson disease [RCV003502122]	likely benign	13	51941240	51941240	Human	1	name
405131309	CV2902649	single nucleotide variant	NM_000053.4(ATP7B):c.2448-12C>T	Wilson disease [RCV003502167]	likely benign	13	51950411	51950411	Human	1	name
405130624	CV2905800	single nucleotide variant	NM_000053.4(ATP7B):c.2356-12G>C	Wilson disease [RCV003502098]	likely benign	13	51957619	51957619	Human	1	name
405131154	CV2906082	single nucleotide variant	NM_000053.4(ATP7B):c.2122-19C>A	Wilson disease [RCV003502151]	likely benign	13	51958563	51958563	Human	1	name
405134251	CV2915664	single nucleotide variant	NM_000053.4(ATP7B):c.2447+20T>C	Wilson disease [RCV003502474]	likely benign	13	51957496	51957496	Human	1	name
402466911	CV2923117	single nucleotide variant	NM_000053.4(ATP7B):c.2356-20A>G	Wilson disease [RCV003503403]	likely benign	13	51957627	51957627	Human	1	name
402466845	CV2929174	single nucleotide variant	NM_000053.4(ATP7B):c.2866-10C>T	Wilson disease [RCV003503387]	likely benign	13	51946488	51946488	Human	1	name
402466992	CV2929300	single nucleotide variant	NM_000053.4(ATP7B):c.3904-11C>T	Wilson disease [RCV003503424]\|not provided [RCV004703323]	likely benign\|conflicting interpretations of pathogenicity	13	51937404	51937404	Human	1	name
402469373	CV2930449	single nucleotide variant	NM_000053.4(ATP7B):c.1870-17C>G	Wilson disease [RCV003504078]	likely benign	13	51961930	51961930	Human	1	name
405036546	CV2944224	single nucleotide variant	NM_000053.4(ATP7B):c.2575+13G>A	Wilson disease [RCV003609364]	likely benign	13	51950259	51950259	Human	1	name
405036763	CV2944633	single nucleotide variant	NM_000053.4(ATP7B):c.3243+16C>A	Wilson disease [RCV003609383]	likely benign	13	51944093	51944093	Human	1	name
405036992	CV2944808	single nucleotide variant	NM_000053.4(ATP7B):c.4021+15C>G	Wilson disease [RCV003609404]	likely benign	13	51937261	51937261	Human	1	name
405039028	CV2951672	single nucleotide variant	NM_000053.4(ATP7B):c.3556+15T>A	Wilson disease [RCV003609581]	likely benign	13	51941066	51941066	Human	1	name
405037790	CV2953652	single nucleotide variant	NM_000053.4(ATP7B):c.3244-18C>G	Wilson disease [RCV003609500]	likely benign	13	51942572	51942572	Human	1	name
405039312	CV2955982	single nucleotide variant	NM_000053.4(ATP7B):c.2356-12G>A	Wilson disease [RCV003609607]	likely benign	13	51957619	51957619	Human	1	name
405039608	CV2956283	single nucleotide variant	NM_000053.4(ATP7B):c.2731-18G>T	Wilson disease [RCV003609631]	likely benign	13	51949814	51949814	Human	1	name
405039456	CV2962668	single nucleotide variant	NM_000053.4(ATP7B):c.2576-19G>A	Wilson disease [RCV003609619]	likely benign	13	51950180	51950180	Human	1	name
405039517	CV2962751	single nucleotide variant	NM_000053.4(ATP7B):c.2865+18G>C	Wilson disease [RCV003609624]	likely benign	13	51949644	51949644	Human	1	name
405044722	CV2967701	single nucleotide variant	NM_000053.4(ATP7B):c.3413-12T>C	Wilson disease [RCV003610071]	likely benign	13	51941236	51941236	Human	1	name
405045048	CV2968410	single nucleotide variant	NM_000053.4(ATP7B):c.3556+16G>A	Wilson disease [RCV003610095]	likely benign	13	51941065	51941065	Human	1	name
405049447	CV2979641	single nucleotide variant	NM_000053.4(ATP7B):c.2576-10C>A	Wilson disease [RCV003610403]	likely benign	13	51950171	51950171	Human	1	name
405049475	CV2979643	single nucleotide variant	NM_000053.4(ATP7B):c.2576-13T>A	Wilson disease [RCV003610405]	likely benign	13	51950174	51950174	Human	1	name
405048975	CV2986422	single nucleotide variant	NM_000053.4(ATP7B):c.4124+10C>G	Wilson disease [RCV003610366]	likely benign	13	51935583	51935583	Human	1	name
405050223	CV2994430	single nucleotide variant	NM_000053.4(ATP7B):c.1286-19T>G	Wilson disease [RCV003610459]	likely benign	13	51970768	51970768	Human	1	name
405030223	CV3000920	single nucleotide variant	NM_000053.4(ATP7B):c.2576-11C>T	Wilson disease [RCV003608799]	likely benign	13	51950172	51950172	Human	1	name
405030855	CV3003500	single nucleotide variant	NM_000053.4(ATP7B):c.4124+13A>G	Wilson disease [RCV003608789]	likely benign	13	51935580	51935580	Human	1	name
405032781	CV3010834	single nucleotide variant	NM_000053.4(ATP7B):c.2447+12T>G	Wilson disease [RCV003608993]	likely benign	13	51957504	51957504	Human	1	name
405032758	CV3010846	single nucleotide variant	NM_000053.4(ATP7B):c.2447+17A>G	Wilson disease [RCV003608994]	likely benign	13	51957499	51957499	Human	1	name
405032664	CV3010883	single nucleotide variant	NM_000053.4(ATP7B):c.1286-10T>C	Wilson disease [RCV003608997]	likely benign	13	51970759	51970759	Human	1	name
405030505	CV3011435	single nucleotide variant	NM_000053.4(ATP7B):c.1286-14A>G	Wilson disease [RCV003608821]	likely benign	13	51970763	51970763	Human	1	name
405030796	CV3014843	single nucleotide variant	NM_000053.4(ATP7B):c.2865+14C>T	Wilson disease [RCV003608844]	likely benign	13	51949648	51949648	Human	1	name
405051023	CV3027120	single nucleotide variant	NM_000053.4(ATP7B):c.2730+16T>C	Wilson disease [RCV003610521]	likely benign	13	51949991	51949991	Human	1	name
405054614	CV3033553	single nucleotide variant	NM_000053.4(ATP7B):c.3699+14A>C	Wilson disease [RCV003610659]	likely benign	13	51939037	51939037	Human	1	name
405052636	CV3036839	single nucleotide variant	NM_000053.4(ATP7B):c.2575+20G>A	Wilson disease [RCV003610674]	likely benign	13	51950252	51950252	Human	1	name
405053306	CV3043231	single nucleotide variant	NM_000053.4(ATP7B):c.1869+19A>G	Wilson disease [RCV003610729]	likely benign	13	51964853	51964853	Human	1	name
405053521	CV3046781	single nucleotide variant	NM_000053.4(ATP7B):c.1708-15C>T	Wilson disease [RCV003610748]	likely benign	13	51965048	51965048	Human	1	name
405053545	CV3046907	single nucleotide variant	NM_000053.4(ATP7B):c.2865+10A>G	Wilson disease [RCV003610750]	likely benign	13	51949652	51949652	Human	1	name
405054069	CV3047595	single nucleotide variant	NM_000053.4(ATP7B):c.1708-17G>A	Wilson disease [RCV003610795]	likely benign	13	51965050	51965050	Human	1	name
405053694	CV3050815	single nucleotide variant	NM_000053.4(ATP7B):c.2730+12A>G	Wilson disease [RCV003610763]	likely benign	13	51949995	51949995	Human	1	name
405053974	CV3051118	single nucleotide variant	NM_000053.4(ATP7B):c.4124+20G>T	Wilson disease [RCV003610786]	likely benign	13	51935573	51935573	Human	1	name
405054281	CV3051403	single nucleotide variant	NM_000053.4(ATP7B):c.2730+19A>G	Wilson disease [RCV003610814]	likely benign	13	51949988	51949988	Human	1	name
405055619	CV3052778	single nucleotide variant	NM_000053.4(ATP7B):c.2447+10G>A	Wilson disease [RCV003610913]	likely benign	13	51957506	51957506	Human	1	name
405053659	CV3054087	single nucleotide variant	NM_000053.4(ATP7B):c.3243+20G>A	Wilson disease [RCV003610760]	likely benign	13	51944089	51944089	Human	1	name
405055826	CV3067127	single nucleotide variant	NM_000053.4(ATP7B):c.1286-16T>C	Wilson disease [RCV003610928]	likely benign	13	51970765	51970765	Human	1	name
405041905	CV3071062	single nucleotide variant	NM_000053.4(ATP7B):c.3904-14C>T	Wilson disease [RCV003609855]	likely benign	13	51937407	51937407	Human	1	name
405042410	CV3071606	single nucleotide variant	NM_000053.4(ATP7B):c.1707+17C>G	Wilson disease [RCV003609899]	likely benign	13	51968427	51968427	Human	1	name
405043367	CV3073718	single nucleotide variant	NM_000053.4(ATP7B):c.4124+15G>A	Wilson disease [RCV003609842]	likely benign	13	51935578	51935578	Human	1	name
405042855	CV3074770	single nucleotide variant	NM_000053.4(ATP7B):c.2122-16T>C	Wilson disease [RCV003609934]	likely benign	13	51958560	51958560	Human	1	name
405043685	CV3075147	single nucleotide variant	NM_000053.4(ATP7B):c.1543+18A>G	Wilson disease [RCV003609973]	likely benign	13	51970474	51970474	Human	1	name
405041544	CV3075773	single nucleotide variant	NM_000053.4(ATP7B):c.2730+18A>G	Wilson disease [RCV003609798]	likely benign	13	51949989	51949989	Human	1	name
405041094	CV3078672	single nucleotide variant	NM_000053.4(ATP7B):c.3556+10G>T	Wilson disease [RCV003609782]	likely benign	13	51941071	51941071	Human	1	name
405042301	CV3079037	single nucleotide variant	NM_000053.4(ATP7B):c.3061-14G>A	Wilson disease [RCV003609822]	likely benign	13	51944305	51944305	Human	1	name
405042058	CV3079656	single nucleotide variant	NM_000053.4(ATP7B):c.3413-18A>G	Wilson disease [RCV003609869]	likely benign	13	51941242	51941242	Human	1	name
405042619	CV3080068	single nucleotide variant	NM_000053.4(ATP7B):c.3557-18C>T	Wilson disease [RCV003609915]	likely benign	13	51939211	51939211	Human	1	name
405043132	CV3080419	single nucleotide variant	NM_000053.4(ATP7B):c.1543+14G>C	Wilson disease [RCV003609954]	likely benign	13	51970478	51970478	Human	1	name
405043206	CV3080574	single nucleotide variant	NM_000053.4(ATP7B):c.4022-13C>A	Wilson disease [RCV003609960]	likely benign	13	51935708	51935708	Human	1	name
405141496	CV3131249	single nucleotide variant	NM_000053.4(ATP7B):c.4022-15T>C	Wilson disease [RCV003839289]	likely benign	13	51935710	51935710	Human	1	name
405141619	CV3131259	single nucleotide variant	NM_000053.4(ATP7B):c.3904-10T>C	Wilson disease [RCV003839299]	likely benign	13	51937403	51937403	Human	1	name
405233956	CV3145133	single nucleotide variant	NM_000053.4(ATP7B):c.1544-11G>A	Wilson disease [RCV003853390]	likely benign	13	51968618	51968618	Human	1	name
405198152	CV3146661	single nucleotide variant	NM_000053.4(ATP7B):c.4125-16C>T	Wilson disease [RCV003844016]	likely benign	13	51935045	51935045	Human	1	name
405170703	CV3150025	single nucleotide variant	NM_000053.4(ATP7B):c.2447+16C>T	Wilson disease [RCV003841496]	likely benign\|conflicting interpretations of pathogenicity	13	51957500	51957500	Human	1	name
405230301	CV3153856	single nucleotide variant	NM_000053.4(ATP7B):c.3557-18C>G	Wilson disease [RCV003848723]	likely benign	13	51939211	51939211	Human	1	name
405220763	CV3154460	single nucleotide variant	NM_000053.4(ATP7B):c.3412+20C>T	Wilson disease [RCV003847152]	likely benign	13	51942366	51942366	Human	1	name
405189607	CV3156733	single nucleotide variant	NM_000053.4(ATP7B):c.1947-15G>A	Wilson disease [RCV003859611]	likely benign	13	51960337	51960337	Human	1	name
405232262	CV3157549	single nucleotide variant	NM_000053.4(ATP7B):c.3699+14A>G	Wilson disease [RCV003865499]	likely benign	13	51939037	51939037	Human	1	name
405085238	CV3167286	single nucleotide variant	NM_000053.4(ATP7B):c.3060+17G>T	Wilson disease [RCV003851867]	likely benign	13	51946267	51946267	Human	1	name
402481876	CV3170790	single nucleotide variant	NM_000053.4(ATP7B):c.2447+18A>G	Wilson disease [RCV003875992]	likely benign	13	51957498	51957498	Human	1	name
402470138	CV3171073	single nucleotide variant	NM_000053.4(ATP7B):c.3243+13G>C	Wilson disease [RCV003874036]	likely benign	13	51944096	51944096	Human	1	name
402473313	CV3172153	single nucleotide variant	NM_000053.4(ATP7B):c.1869+12A>G	Wilson disease [RCV003874756]	likely benign	13	51964860	51964860	Human	1	name
405255615	CV3172596	single nucleotide variant	NM_000053.4(ATP7B):c.1870-19C>T	Wilson disease [RCV003872534]	likely benign	13	51961932	51961932	Human	1	name
402476623	CV3173835	single nucleotide variant	NM_000053.4(ATP7B):c.1869+14T>A	Wilson disease [RCV003875373]	likely benign	13	51964858	51964858	Human	1	name
402476646	CV3173839	single nucleotide variant	NM_000053.4(ATP7B):c.1869+12A>T	Wilson disease [RCV003875377]	likely benign	13	51964860	51964860	Human	1	name
404995386	CV3176555	single nucleotide variant	NM_000053.4(ATP7B):c.1869+20A>C	Wilson disease [RCV003881987]	likely benign	13	51964852	51964852	Human	1	name
404994485	CV3176556	single nucleotide variant	NM_000053.4(ATP7B):c.2865+19G>A	Wilson disease [RCV003881988]	likely benign	13	51949643	51949643	Human	1	name
405252038	CV3177569	single nucleotide variant	NM_000053.4(ATP7B):c.3413-11C>A	Wilson disease [RCV003870527]	likely benign\|conflicting interpretations of pathogenicity	13	51941235	51941235	Human	1	name
405252040	CV3177570	deletion	NM_000053.4(ATP7B):c.3413-13del	Wilson disease [RCV003870528]	likely benign\|conflicting interpretations of pathogenicity	13	51941237	51941237	Human	1	name
405252042	CV3177571	single nucleotide variant	NM_000053.4(ATP7B):c.3413-14C>T	Wilson disease [RCV003870529]	likely benign	13	51941238	51941238	Human	1	name
402507982	CV3177854	single nucleotide variant	NM_000053.4(ATP7B):c.2576-11C>G	Wilson disease [RCV003878650]	likely benign	13	51950172	51950172	Human	1	name
402502023	CV3181048	single nucleotide variant	NM_000053.4(ATP7B):c.1947-17C>T	Wilson disease [RCV003878065]	likely benign	13	51960339	51960339	Human	1	name
402491962	CV3182550	single nucleotide variant	NM_000053.4(ATP7B):c.1286-14A>C	Wilson disease [RCV003877037]	likely benign	13	51970763	51970763	Human	1	name
405739861	CV3228956	single nucleotide variant	NM_000053.4(ATP7B):c.4022-11T>C	Wilson disease [RCV004014877]	likely benign	13	51935706	51935706	Human	1	name
405694601	CV3230026	single nucleotide variant	NM_000053.4(ATP7B):c.3413-12T>A	Wilson disease [RCV004007944]	uncertain significance	13	51941236	51941236	Human	1	name
405695847	CV3230207	single nucleotide variant	NM_000053.4(ATP7B):c.2448-13G>T	Wilson disease [RCV004008126]	uncertain significance	13	51950412	51950412	Human	1	name
405722577	CV3231952	single nucleotide variant	NM_000053.4(ATP7B):c.4125-14T>A	Wilson disease [RCV004012974]	uncertain significance	13	51935043	51935043	Human	1	name
405713741	CV3232153	single nucleotide variant	NM_000053.4(ATP7B):c.2866-11C>T	Wilson disease [RCV004012006]	likely benign	13	51946489	51946489	Human	1	name
405757053	CV3233044	single nucleotide variant	NM_000053.4(ATP7B):c.1870-14T>C	Wilson disease [RCV004016996]	likely benign	13	51961927	51961927	Human	1	name
405704324	CV3233622	single nucleotide variant	NM_000053.4(ATP7B):c.2122-14T>C	Wilson disease [RCV004010079]	likely benign	13	51958558	51958558	Human	1	name
405747438	CV3234909	single nucleotide variant	NM_000053.4(ATP7B):c.1286-15G>A	Wilson disease [RCV004015784]	likely benign	13	51970764	51970764	Human	1	name
11620832	CV328533	single nucleotide variant	NM_000053.4(ATP7B):c.1543+13C>T	Wilson disease [RCV000341242]\|not provided [RCV000415979]\|not specified [RCV000423547]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51970479	51970479	Human	1	name
407573281	CV3499083	single nucleotide variant	NM_000053.4(ATP7B):c.2731-67A>G	not specified [RCV004700054]	uncertain significance	13	51949863	51949863	Human		name
408384306	CV3525954	single nucleotide variant	NM_000053.4(ATP7B):c.1870-49A>G	not specified [RCV004766864]	uncertain significance	13	51961962	51961962	Human		name
596939790	CV3544822	single nucleotide variant	NM_000053.4(ATP7B):c.1286-10T>A	Wilson disease [RCV004805446]	likely benign	13	51970759	51970759	Human	1	name
596948238	CV3549319	single nucleotide variant	NM_000053.4(ATP7B):c.3413-21A>C	not provided [RCV004812139]	uncertain significance	13	51941245	51941245	Human		name
597686310	CV3714408	single nucleotide variant	NM_000053.4(ATP7B):c.3904-12C>T	Wilson disease [RCV005006920]	conflicting interpretations of pathogenicity\|uncertain significance	13	51937405	51937405	Human	1	name
597686693	CV3714450	single nucleotide variant	NM_000053.4(ATP7B):c.1543+40G>A	Wilson disease [RCV005006956]	likely pathogenic	13	51970452	51970452	Human	1	name
597914799	CV3740586	single nucleotide variant	NM_000053.4(ATP7B):c.1870-15C>T	Wilson disease [RCV005073923]	likely benign	13	51961928	51961928	Human	1	name
597853067	CV3743464	single nucleotide variant	NM_000053.4(ATP7B):c.1870-20C>G	Wilson disease [RCV005060814]	likely benign	13	51961933	51961933	Human	1	name
597946540	CV3755605	single nucleotide variant	NM_000053.4(ATP7B):c.2356-15C>G	Wilson disease [RCV005078615]	likely benign	13	51957622	51957622	Human	1	name
597960749	CV3756263	single nucleotide variant	NM_000053.4(ATP7B):c.4021+16C>T	Wilson disease [RCV005081580]	likely benign	13	51937260	51937260	Human	1	name
597874735	CV3775532	single nucleotide variant	NM_000053.4(ATP7B):c.1544-11G>C	Wilson disease [RCV005123262]	likely benign	13	51968618	51968618	Human	1	name
597936100	CV3777600	single nucleotide variant	NM_000053.4(ATP7B):c.4124+12C>G	Wilson disease [RCV005132513]	likely benign	13	51935581	51935581	Human	1	name
597903290	CV3784452	single nucleotide variant	NM_000053.4(ATP7B):c.1707+11T>C	Wilson disease [RCV005127504]	likely benign	13	51968433	51968433	Human	1	name
597903024	CV3800262	single nucleotide variant	NM_000053.4(ATP7B):c.3060+11A>T	Wilson disease [RCV005127434]	likely benign	13	51946273	51946273	Human	1	name
597867281	CV3802977	single nucleotide variant	NM_000053.4(ATP7B):c.1870-18T>G	Wilson disease [RCV005147764]	likely benign	13	51961931	51961931	Human	1	name
597960843	CV3811973	single nucleotide variant	NM_000053.4(ATP7B):c.3413-11C>T	Wilson disease [RCV005163626]	likely benign	13	51941235	51941235	Human	1	name
597966545	CV3823811	single nucleotide variant	NM_000053.4(ATP7B):c.3061-11G>A	Wilson disease [RCV005165231]	likely benign	13	51944302	51944302	Human	1	name
597920644	CV3842770	single nucleotide variant	NM_000053.4(ATP7B):c.1870-11T>G	Wilson disease [RCV005184255]	likely benign	13	51961924	51961924	Human	1	name
597906153	CV3846671	single nucleotide variant	NM_000053.4(ATP7B):c.3243+10C>G	Wilson disease [RCV005182098]	likely benign	13	51944099	51944099	Human	1	name
597856902	CV3849789	single nucleotide variant	NM_000053.4(ATP7B):c.1286-20T>G	Wilson disease [RCV005195298]	likely benign	13	51970769	51970769	Human	1	name
597861700	CV3850822	single nucleotide variant	NM_000053.4(ATP7B):c.2356-17T>G	Wilson disease [RCV005195955]	likely benign	13	51957624	51957624	Human	1	name
597866742	CV3857788	single nucleotide variant	NM_000053.4(ATP7B):c.3699+19G>T	Wilson disease [RCV005196735]	likely benign	13	51939032	51939032	Human	1	name
597930786	CV3862376	single nucleotide variant	NM_000053.4(ATP7B):c.3060+15C>T	Wilson disease [RCV005206621]	likely benign	13	51946269	51946269	Human	1	name
13436579	CV433130	single nucleotide variant	NM_000053.4(ATP7B):c.3557-31G>T	Wilson disease [RCV000507402]\|not provided [RCV001591154]	benign\|likely benign	13	51939224	51939224	Human	1	name
13435855	CV433131	single nucleotide variant	NM_000053.4(ATP7B):c.1870-65G>A	Wilson disease [RCV001533480]\|not provided [RCV001644563]\|not specified [RCV000506124]	benign	13	51961978	51961978	Human	1	name
8569236	CV44373	single nucleotide variant	NM_000053.4(ATP7B):c.2866-13G>C	Wilson disease [RCV000029358]\|not provided [RCV004706448]\|not specified [RCV000078045]	benign\|likely benign\|conflicting interpretations of pathogenicity	13	51946491	51946491	Human	1	name
8569245	CV44382	single nucleotide variant	NM_000053.4(ATP7B):c.3060+16G>T	Wilson disease [RCV000029367]\|not provided [RCV004704816]\|not specified [RCV000174439]	benign\|likely benign	13	51946268	51946268	Human	1	name
13524176	CV487612	duplication	NM_000053.4(ATP7B):c.1707+29dup	Wilson disease [RCV001001471]\|not provided [RCV000588583]	likely benign	13	51968414	51968415	Human	1	name
13520522	CV487702	single nucleotide variant	NM_000053.4(ATP7B):c.4022-19C>T	Wilson disease [RCV002530886]\|not specified [RCV000606511]	likely benign\|uncertain significance	13	51935714	51935714	Human	1	name
13541230	CV504284	single nucleotide variant	NM_000053.4(ATP7B):c.2448-11G>A	Wilson disease [RCV002063022]\|not provided [RCV001722622]\|not specified [RCV000615865]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51950410	51950410	Human	1	name
13532974	CV504559	single nucleotide variant	NM_000053.4(ATP7B):c.2866-21C>T	not specified [RCV000606963]	likely benign	13	51946499	51946499	Human		name
13539396	CV504573	single nucleotide variant	NM_000053.4(ATP7B):c.1708-14A>G	Wilson disease [RCV002062904]\|not specified [RCV000613221]	likely benign	13	51965047	51965047	Human	1	name
13539208	CV504815	single nucleotide variant	NM_000053.4(ATP7B):c.1947-15G>T	not specified [RCV000612957]	likely benign	13	51960337	51960337	Human		name
13786983	CV547638	single nucleotide variant	NM_000053.4(ATP7B):c.3061-12T>A	Wilson disease [RCV000673212]	pathogenic\|likely pathogenic	13	51944303	51944303	Human	1	name
14393501	CV609878	single nucleotide variant	NM_001005918.2(ATP7B):c.-116G>A	not provided [RCV000755840]	uncertain significance	13	52011453	52011453	Human		name
14690923	CV621834	single nucleotide variant	NM_000053.4(ATP7B):c.1869+20A>G	Wilson disease [RCV002067374]\|not provided [RCV004721594]\|not specified [RCV000780934]	likely benign\|uncertain significance	13	51964852	51964852	Human	1	name
14730275	CV666325	single nucleotide variant	NM_000053.4(ATP7B):c.3557-95A>G	not provided [RCV000835601]	benign	13	51939288	51939288	Human		name
14730056	CV666330	single nucleotide variant	NM_000053.4(ATP7B):c.2866-90G>T	not provided [RCV000835502]	benign	13	51946568	51946568	Human		name
14730050	CV666332	single nucleotide variant	NM_000053.4(ATP7B):c.1286-93A>C	not provided [RCV000835500]	benign	13	51970842	51970842	Human		name
14742330	CV667075	single nucleotide variant	NM_000053.4(ATP7B):c.4125-19T>C	not provided [RCV000841313]	likely benign	13	51935048	51935048	Human		name
14735243	CV667086	single nucleotide variant	NM_000053.4(ATP7B):c.1707+98G>A	not provided [RCV000837919]	likely benign	13	51968346	51968346	Human		name
14711785	CV667182	single nucleotide variant	NM_000053.4(ATP7B):c.3556+20T>G	Wilson disease [RCV001858424]\|not provided [RCV000828162]	likely benign	13	51941061	51941061	Human	1	name
14730042	CV667410	single nucleotide variant	NM_000053.4(ATP7B):c.1544-53A>C	Wilson disease [RCV001517042]\|not provided [RCV000835494]	benign	13	51968660	51968660	Human	1	name
14732051	CV667416	single nucleotide variant	NM_000053.4(ATP7B):c.1286-92A>G	not provided [RCV000836409]	benign	13	51970841	51970841	Human		name
15198893	CV760291	single nucleotide variant	NM_000053.4(ATP7B):c.1707+10G>A	Wilson disease [RCV001454220]	likely benign	13	51968434	51968434	Human	1	name
15131162	CV788128	single nucleotide variant	NM_000053.4(ATP7B):c.2730+10A>G	Wilson disease [RCV000981166]	likely benign	13	51949997	51949997	Human	1	name
21405350	CV799741	single nucleotide variant	NM_000053.4(ATP7B):c.4021+34G>A	Wilson disease [RCV001000198]	likely benign	13	51937242	51937242	Human	1	name
21404038	CV800960	single nucleotide variant	NM_000053.4(ATP7B):c.1947-19T>A	Wilson disease [RCV001003497]	likely pathogenic	13	51960341	51960341	Human	1	name
28911785	CV872346	single nucleotide variant	NM_000053.4(ATP7B):c.1544-12T>C	Inborn genetic diseases [RCV002402502]\|Wilson disease [RCV001111163]\|not provided [RCV001593272]	conflicting interpretations of pathogenicity\|uncertain significance	13	51968619	51968619	Human	2	name
38463078	CV920326	deletion	NM_000053.4(ATP7B):c.2356-16del	Wilson disease [RCV001198633]	conflicting interpretations of pathogenicity\|uncertain significance	13	51957623	51957623	Human	1	name
41405592	CV981838	single nucleotide variant	NM_000053.4(ATP7B):c.4125-23G>A	ATP7B-related disorder [RCV003928819]\|Wilson disease [RCV001286905]\|not provided [RCV004706082]	benign\|likely benign	13	51935052	51935052	Human	1	name , alternate_id
150338329	CV1166965	single nucleotide variant	NM_000053.4(ATP7B):c.4022-159G>C	Wilson disease [RCV001533466]\|not provided [RCV001685444]	benign	13	51935854	51935854	Human	1	name
150333902	CV1172541	single nucleotide variant	NM_000053.4(ATP7B):c.3244-109C>T	not provided [RCV001539688]	likely benign	13	51942663	51942663	Human		name
8582873	CV117429	single nucleotide variant	NM_000053.3(ATP7B):c.51+16144G>C	Lung cancer [RCV000097950]	uncertain significance	13	51995143	51995143	Human		name
150414000	CV1177725	single nucleotide variant	NM_000053.4(ATP7B):c.4125-209C>G	not provided [RCV001547968]	likely benign	13	51935238	51935238	Human		name
150408296	CV1177727	single nucleotide variant	NM_000053.4(ATP7B):c.2122-158G>A	not provided [RCV001545843]	likely benign	13	51958702	51958702	Human		name
150413043	CV1177728	single nucleotide variant	NM_000053.4(ATP7B):c.1544-142A>G	not provided [RCV001547678]	likely benign	13	51968749	51968749	Human		name
150419159	CV1181127	single nucleotide variant	NM_000053.4(ATP7B):c.3557-316A>G	not provided [RCV001550916]	likely benign	13	51939509	51939509	Human		name
150425329	CV1184831	single nucleotide variant	NM_000053.4(ATP7B):c.3556+254A>G	not provided [RCV001557859]	likely benign	13	51940827	51940827	Human		name
150423850	CV1184832	single nucleotide variant	NM_000053.4(ATP7B):c.3413-231C>T	not provided [RCV001555882]	likely benign	13	51941455	51941455	Human		name
150425521	CV1184833	single nucleotide variant	NM_000053.4(ATP7B):c.3060+291A>T	not provided [RCV001558102]	likely benign	13	51945993	51945993	Human		name
150426212	CV1184834	single nucleotide variant	NM_000053.4(ATP7B):c.2448-145G>A	not provided [RCV001559064]	likely benign	13	51950544	51950544	Human		name
150425068	CV1184835	single nucleotide variant	NM_000053.4(ATP7B):c.2448-208G>A	not provided [RCV001557516]	likely benign	13	51950607	51950607	Human		name
150425668	CV1184836	single nucleotide variant	NM_000053.4(ATP7B):c.1544-304C>T	not provided [RCV001558316]	likely benign	13	51968911	51968911	Human		name
150412879	CV1191529	deletion	NM_000053.4(ATP7B):c.2122-284del	not provided [RCV001567040]	likely benign	13	51958828	51958828	Human		name
150419381	CV1198493	single nucleotide variant	NM_000053.4(ATP7B):c.2865+249G>A	not provided [RCV001577152]	likely benign	13	51949413	51949413	Human		name
150460034	CV1203459	single nucleotide variant	NM_000053.4(ATP7B):c.2447+104G>T	not provided [RCV001586666]	likely benign	13	51957412	51957412	Human		name
150431352	CV1206321	single nucleotide variant	NM_000053.4(ATP7B):c.3061-290G>C	not provided [RCV001580970]	likely benign	13	51944581	51944581	Human		name
150461569	CV1206476	duplication	NM_000053.4(ATP7B):c.4021+122dup	not provided [RCV001586877]	likely benign	13	51937139	51937140	Human		name
150488371	CV1208243	single nucleotide variant	NM_000053.4(ATP7B):c.2121+127C>A	not provided [RCV001592103]	likely benign	13	51960021	51960021	Human		name
150471921	CV1209644	single nucleotide variant	NM_000053.4(ATP7B):c.1286-153C>T	not provided [RCV001588755]	likely benign	13	51970902	51970902	Human		name
150490606	CV1251057	single nucleotide variant	NM_000053.4(ATP7B):c.3243+179A>C	not provided [RCV001674724]	benign	13	51943930	51943930	Human		name
150500777	CV1256164	deletion	NM_000053.4(ATP7B):c.4021+136del	not provided [RCV001676788]	benign	13	51937140	51937140	Human		name
150471463	CV1270081	deletion	NM_000053.4(ATP7B):c.1544-257del	not provided [RCV001695369]	benign	13	51968864	51968864	Human		name
150455007	CV1277110	single nucleotide variant	NM_000053.4(ATP7B):c.3557-308C>T	not provided [RCV001708902]	benign	13	51939501	51939501	Human		name
150486623	CV1283638	single nucleotide variant	NM_000053.4(ATP7B):c.3244-219A>G	not provided [RCV001715815]	benign	13	51942773	51942773	Human		name
10406389	CV208050	microsatellite	NM_000053.4(ATP7B):c.1707+9TG[3]	not specified [RCV000192392]	benign	13	51968431	51968432	Human		name
14740296	CV666319	single nucleotide variant	NM_000053.4(ATP7B):c.4022-329C>T	not provided [RCV000840281]	benign	13	51936024	51936024	Human		name
14740288	CV666326	single nucleotide variant	NM_000053.4(ATP7B):c.3412+292A>G	not provided [RCV000840278]	benign	13	51942094	51942094	Human		name
14735246	CV667076	single nucleotide variant	NM_000053.4(ATP7B):c.4021+107G>A	not provided [RCV000837920]	likely benign	13	51937169	51937169	Human		name
14740293	CV667078	single nucleotide variant	NM_000053.4(ATP7B):c.3699+299G>A	not provided [RCV000840280]	benign	13	51938752	51938752	Human		name
14730045	CV667081	single nucleotide variant	NM_000053.4(ATP7B):c.2866-105G>A	not provided [RCV000835495]	benign	13	51946583	51946583	Human		name
14741524	CV667082	single nucleotide variant	NM_000053.4(ATP7B):c.1946+153T>C	not provided [RCV000840821]	likely benign	13	51961684	51961684	Human		name
14740275	CV667083	single nucleotide variant	NM_000053.4(ATP7B):c.1870-217A>G	not provided [RCV000840273]	benign	13	51962130	51962130	Human		name
14740283	CV667187	single nucleotide variant	NM_000053.4(ATP7B):c.2356-217G>A	not provided [RCV000840276]	benign	13	51957824	51957824	Human		name
14740278	CV667192	single nucleotide variant	NM_000053.4(ATP7B):c.2356-296A>G	not provided [RCV000840274]	benign	13	51957903	51957903	Human		name
14740280	CV667194	single nucleotide variant	NM_000053.4(ATP7B):c.1286-256T>C	not provided [RCV000840275]	benign	13	51971005	51971005	Human		name
14740273	CV667196	single nucleotide variant	NM_000053.4(ATP7B):c.1285+287G>A	not provided [RCV000840272]	benign	13	51973648	51973648	Human		name
14725395	CV667400	single nucleotide variant	NM_000053.4(ATP7B):c.4124+278T>A	not provided [RCV000833421]	likely benign	13	51935315	51935315	Human		name
14741525	CV667403	single nucleotide variant	NM_000053.4(ATP7B):c.4022-158G>C	not provided [RCV000840822]	benign	13	51935853	51935853	Human		name
14740291	CV667405	single nucleotide variant	NM_000053.4(ATP7B):c.3243+290G>A	not provided [RCV000840279]	benign	13	51943819	51943819	Human		name
14740285	CV667407	single nucleotide variant	NM_000053.4(ATP7B):c.2447+289G>T	not provided [RCV000840277]	benign	13	51957227	51957227	Human		name
401829205	CV2743705	single nucleotide variant	NM_000053.4(ATP7B):c.2866-1521G>A	not provided [RCV003326881]	likely pathogenic	13	51947999	51947999	Human		name
405247790	CV3159117	microsatellite	NM_000053.4(ATP7B):c.3244-20CT[2]	Wilson disease [RCV003869262]	likely benign	13	51942569	51942570	Human		name
11662228	CV319960	deletion	NM_000053.4(ATP7B):c.994_997del	Wilson disease [RCV000384277]	uncertain significance	13	51933759	51933762	Human	1	name
13788881	CV547093	microsatellite	NM_000053.3(ATP7B):c.-127CG[2][1]	Wilson disease [RCV000665647]	likely benign	13	52011463	52011464	Human		name
13785270	CV547095	deletion	NM_000053.4(ATP7B):c.-436_-422del	Wilson disease [RCV000671857]\|not provided [RCV005411534]	pathogenic\|likely pathogenic	13	52011759	52011773	Human	1	name
13783038	CV547407	duplication	NM_000053.3(ATP7B):c.-122_-118dup	Wilson disease [RCV000669614]	likely benign	13	52011454	52011455	Human	1	name
21405937	CV799743	microsatellite	NM_000053.4(ATP7B):c.3556+29TC[2]	Wilson disease [RCV001001453]	likely benign	13	51941047	51941048	Human		name
9684438	CV167808	single nucleotide variant	NM_000053.4(ATP7B):c.9G>A (p.Glu3=)	Wilson disease [RCV001503082]\|not specified [RCV000145287]	benign\|likely benign	13	52011329	52011329	Human	1	name
11531194	CV247315	deletion	NM_000053.3(ATP7B):c.-441_-427del15	Wilson disease [RCV000239371]	pathogenic\|not provided	13	52011762	52011776	Human	1	name
15117462	CV769615	single nucleotide variant	NM_000053.4(ATP7B):c.6T>C (p.Pro2=)	not provided [RCV000939837]	likely benign	13	52011332	52011332	Human		name
127328300	CV1151120	deletion	NM_000053.4(ATP7B):c.1705_1707+10del	Wilson disease [RCV001506986]	pathogenic	13	51968434	51968446	Human	1	name
156053194	CV1934996	deletion	NM_000053.4(ATP7B):c.436_1708-958del	Wilson disease [RCV002510282]	pathogenic	13	51965991	51974784	Human	1	name
405755057	CV3232608	single nucleotide variant	NM_000053.4(ATP7B):c.24C>T (p.Ile8=)	Wilson disease [RCV004016744]	likely benign	13	52011314	52011314	Human	1	name
597686923	CV3714473	deletion	NM_000053.4(ATP7B):c.6del (p.Glu3fs)	Wilson disease [RCV005006978]	likely pathogenic	13	52011332	52011332	Human	1	name
13791557	CV547230	deletion	NM_000053.4(ATP7B):c.1700_1707+16del	Wilson disease [RCV000667602]	likely pathogenic	13	51968428	51968451	Human	1	name
13820511	CV567723	deletion	NM_000053.4(ATP7B):c.1708-25_1719del	Wilson disease [RCV000694922]	pathogenic	13	51965022	51965058	Human	1	name
15148407	CV769614	single nucleotide variant	NM_000053.4(ATP7B):c.15G>A (p.Glu5=)	Wilson disease [RCV000945109]	likely benign	13	52011323	52011323	Human	1	name
127251146	CV1101961	duplication	NM_000053.4(ATP7B):c.1707+6_1707+7dup	Wilson disease [RCV001436510]	likely benign	13	51968436	51968437	Human	1	name
127291285	CV1144289	single nucleotide variant	NM_000053.4(ATP7B):c.78C>A (p.Thr26=)	Wilson disease [RCV001496191]	likely benign	13	51975142	51975142	Human	1	name
127328320	CV1151118	microsatellite	NM_000053.4(ATP7B):c.1869+5_1869+8del	Wilson disease [RCV001506998]	likely pathogenic	13	51964864	51964867	Human		name
150453333	CV1205634	deletion	NM_000053.4(ATP7B):c.52-208_52-205del	not provided [RCV001585535]	likely benign	13	51975373	51975376	Human		name
152104799	CV1536563	single nucleotide variant	NM_000053.4(ATP7B):c.33A>G (p.Arg11=)	Wilson disease [RCV002173568]	likely benign	13	52011305	52011305	Human	1	name
152156064	CV1615694	single nucleotide variant	NM_000053.4(ATP7B):c.48G>T (p.Arg16=)	Wilson disease [RCV002158862]	likely benign	13	52011290	52011290	Human	1	name
156170085	CV2041512	single nucleotide variant	NM_000053.4(ATP7B):c.9G>C (p.Glu3Asp)	Wilson disease [RCV002741833]	uncertain significance	13	52011329	52011329	Human	1	name
405038612	CV2954370	single nucleotide variant	NM_000053.4(ATP7B):c.42C>T (p.Ala14=)	Wilson disease [RCV003609546]	likely benign	13	52011296	52011296	Human	1	name
405045492	CV2965371	single nucleotide variant	NM_000053.4(ATP7B):c.57A>G (p.Leu19=)	Wilson disease [RCV003610127]	likely benign	13	51975163	51975163	Human	1	name
405028751	CV2998465	single nucleotide variant	NM_000053.4(ATP7B):c.42C>G (p.Ala14=)	Wilson disease [RCV003608654]	likely benign	13	52011296	52011296	Human	1	name
405043308	CV3075000	single nucleotide variant	NM_000053.4(ATP7B):c.78C>T (p.Thr26=)	Wilson disease [RCV003609968]	likely benign	13	51975142	51975142	Human	1	name
405165536	CV3125603	single nucleotide variant	NM_000053.4(ATP7B):c.60T>G (p.Ser20=)	Wilson disease [RCV003818686]	likely benign	13	51975160	51975160	Human	1	name
405221679	CV3158159	single nucleotide variant	NM_000053.4(ATP7B):c.96A>G (p.Ala32=)	Wilson disease [RCV003863654]	likely benign	13	51975124	51975124	Human	1	name
405728306	CV3230979	single nucleotide variant	NM_000053.4(ATP7B):c.69T>G (p.Ser23=)	Wilson disease [RCV004013560]	likely benign	13	51975151	51975151	Human	1	name
597686301	CV3714407	deletion	NM_000053.4(ATP7B):c.4021+5_4021+8del	Wilson disease [RCV005006919]	uncertain significance	13	51937268	51937271	Human	1	name
597914859	CV3778925	deletion	NM_000053.4(ATP7B):c.3061-9_3061-1del	Wilson disease [RCV005129270]	likely pathogenic	13	51944292	51944300	Human	1	name
13791969	CV547748	single nucleotide variant	NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)	Wilson disease [RCV000668127]	likely pathogenic\|conflicting interpretations of pathogenicity	13	52011335	52011335	Human	1	name
15189066	CV769613	single nucleotide variant	NM_000053.4(ATP7B):c.46C>A (p.Arg16=)	Wilson disease [RCV000932130]	likely benign	13	52011292	52011292	Human	1	name
26892188	CV851539	deletion	NM_000053.4(ATP7B):c.3061-549_3081del	Wilson disease [RCV001068581]	pathogenic	13	51944271	51944840	Human	1	name
40906615	CV979414	single nucleotide variant	NM_000053.4(ATP7B):c.78C>G (p.Thr26=)	Wilson disease [RCV001280025]	uncertain significance	13	51975142	51975142	Human	1	name
126726449	CV1031420	single nucleotide variant	NM_000053.4(ATP7B):c.213A>G (p.Ser71=)	Wilson disease [RCV001348458]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51975007	51975007	Human	1	name
127259436	CV1063033	duplication	NM_000053.4(ATP7B):c.92dup (p.Ala32fs)	Wilson disease [RCV001387146]	pathogenic	13	51975127	51975128	Human	1	name
127272963	CV1063035	deletion	NM_000053.4(ATP7B):c.44del (p.Ser15fs)	Wilson disease [RCV001390638]	pathogenic\|conflicting interpretations of pathogenicity	13	52011294	52011294	Human	1	name
127239527	CV1101976	single nucleotide variant	NM_000053.4(ATP7B):c.258C>T (p.Ile86=)	Wilson disease [RCV001423139]	likely benign	13	51974962	51974962	Human	1	name
127255178	CV1101977	single nucleotide variant	NM_000053.4(ATP7B):c.186C>T (p.Val62=)	Wilson disease [RCV001426479]	likely benign	13	51975034	51975034	Human	1	name
127267695	CV1101978	single nucleotide variant	NM_000053.4(ATP7B):c.123T>C (p.Asn41=)	Wilson disease [RCV001440603]	likely benign	13	51975097	51975097	Human	1	name
127335382	CV1123437	single nucleotide variant	NM_000053.4(ATP7B):c.237G>A (p.Arg79=)	Wilson disease [RCV001474249]	likely benign	13	51974983	51974983	Human	1	name
127287595	CV1144287	single nucleotide variant	NM_000053.4(ATP7B):c.276C>T (p.Ser92=)	Wilson disease [RCV001494955]	likely benign\|conflicting interpretations of pathogenicity	13	51974944	51974944	Human	1	name
127288049	CV1144288	single nucleotide variant	NM_000053.4(ATP7B):c.225C>T (p.Ser75=)	Wilson disease [RCV001495082]	likely benign	13	51974995	51974995	Human	1	name
150520542	CV1289764	duplication	NM_000053.4(ATP7B):c.52dup (p.Ile18fs)	Wilson disease [RCV001730171]	pathogenic	13	51975167	51975168	Human	1	name
151825793	CV1418371	single nucleotide variant	NM_000053.4(ATP7B):c.20A>G (p.Gln7Arg)	Wilson disease [RCV001920007]	uncertain significance	13	52011318	52011318	Human	1	name
152061331	CV1541078	single nucleotide variant	NM_000053.4(ATP7B):c.270G>A (p.Lys90=)	Wilson disease [RCV002190561]	likely benign	13	51974950	51974950	Human	1	name
152063424	CV1587792	single nucleotide variant	NM_000053.4(ATP7B):c.111T>C (p.Phe37=)	Wilson disease [RCV002090542]	likely benign	13	51975109	51975109	Human	1	name
152125317	CV1646156	single nucleotide variant	NM_000053.4(ATP7B):c.102G>A (p.Lys34=)	Wilson disease [RCV002217321]	likely benign	13	51975118	51975118	Human	1	name
152115813	CV1653660	single nucleotide variant	NM_000053.4(ATP7B):c.246T>C (p.Asn82=)	Wilson disease [RCV002153641]	likely benign	13	51974974	51974974	Human	1	name
156350120	CV1873343	single nucleotide variant	NM_000053.4(ATP7B):c.151C>T (p.Leu51=)	Wilson disease [RCV003064779]	likely benign	13	51975069	51975069	Human	1	name
156412569	CV1886762	single nucleotide variant	NM_000053.4(ATP7B):c.264C>T (p.Ser88=)	Wilson disease [RCV003072948]	likely benign	13	51974956	51974956	Human	1	name
156020671	CV1903010	single nucleotide variant	NM_000053.4(ATP7B):c.26C>T (p.Thr9Ile)	Wilson disease [RCV003100179]	uncertain significance	13	52011312	52011312	Human	1	name
156216198	CV1980314	single nucleotide variant	NM_000053.4(ATP7B):c.235A>C (p.Arg79=)	Wilson disease [RCV002626272]	likely benign\|conflicting interpretations of pathogenicity	13	51974985	51974985	Human	1	name
156026655	CV2016504	single nucleotide variant	NM_000053.4(ATP7B):c.10C>G (p.Gln4Glu)	Wilson disease [RCV002691258]	uncertain significance	13	52011328	52011328	Human	1	name
155922169	CV2023909	single nucleotide variant	NM_000053.4(ATP7B):c.177C>G (p.Thr59=)	Wilson disease [RCV002750768]	likely benign	13	51975043	51975043	Human	1	name
156098031	CV2042033	single nucleotide variant	NM_000053.4(ATP7B):c.234C>T (p.Asp78=)	Wilson disease [RCV002761205]	likely benign	13	51974986	51974986	Human	1	name
156289694	CV2047155	single nucleotide variant	NM_000053.4(ATP7B):c.22A>G (p.Ile8Val)	Wilson disease [RCV002770715]	uncertain significance	13	52011316	52011316	Human	1	name
156312333	CV2087476	deletion	NM_000053.4(ATP7B):c.36del (p.Ala14fs)	Wilson disease [RCV002857738]	pathogenic	13	52011302	52011302	Human	1	name
156249176	CV2168930	single nucleotide variant	NM_000053.4(ATP7B):c.13G>A (p.Glu5Lys)	Wilson disease [RCV003026279]	uncertain significance	13	52011325	52011325	Human	1	name
401901907	CV2813908	single nucleotide variant	NM_000053.4(ATP7B):c.216T>C (p.Cys72=)	not provided [RCV003393322]	likely benign	13	51975004	51975004	Human		name
401946178	CV2833558	deletion	NM_000053.4(ATP7B):c.71del (p.Leu24fs)	Wilson disease [RCV003464967]	uncertain significance	13	51975149	51975149	Human	1	name
402467546	CV2863217	single nucleotide variant	NM_000053.4(ATP7B):c.129C>T (p.Gly43=)	Wilson disease [RCV003503575]	likely benign	13	51975091	51975091	Human	1	name
402466131	CV2918204	single nucleotide variant	NM_000053.4(ATP7B):c.198C>G (p.Gly66=)	Wilson disease [RCV003503217]	likely benign	13	51975022	51975022	Human	1	name
405044923	CV2971559	single nucleotide variant	NM_000053.4(ATP7B):c.132T>C (p.Tyr44=)	Wilson disease [RCV003610086]	likely benign	13	51975088	51975088	Human	1	name
405032308	CV3008954	duplication	NM_000053.4(ATP7B):c.1543+9_1543+12dup	Wilson disease [RCV003608882]	likely benign	13	51970479	51970480	Human	1	name
405032713	CV3010982	single nucleotide variant	NM_000053.4(ATP7B):c.207C>T (p.Cys69=)	Wilson disease [RCV003609001]	likely benign	13	51975013	51975013	Human	1	name
405051126	CV3023918	single nucleotide variant	NM_000053.4(ATP7B):c.258C>A (p.Ile86=)	Wilson disease [RCV003610529]	likely benign	13	51974962	51974962	Human	1	name
405045195	CV3081450	single nucleotide variant	NM_000053.4(ATP7B):c.13G>C (p.Glu5Gln)	Wilson disease [RCV003610003]	uncertain significance	13	52011325	52011325	Human	1	name
405149484	CV3152127	single nucleotide variant	NM_000053.4(ATP7B):c.150C>T (p.Gly50=)	Wilson disease [RCV003856098]	likely benign	13	51975070	51975070	Human	1	name
404984579	CV3183665	single nucleotide variant	NM_000053.4(ATP7B):c.156C>T (p.Gly52=)	Wilson disease [RCV003880942]	likely benign	13	51975064	51975064	Human	1	name
405740799	CV3229276	single nucleotide variant	NM_000053.4(ATP7B):c.19C>T (p.Gln7Ter)	Wilson disease [RCV004015019]	uncertain significance	13	52011319	52011319	Human	1	name
405719340	CV3231242	deletion	NM_000053.4(ATP7B):c.62del (p.Lys21fs)	Wilson disease [RCV004012648]	likely pathogenic	13	51975158	51975158	Human	1	name
405755051	CV3232607	single nucleotide variant	NM_000053.4(ATP7B):c.23T>A (p.Ile8Asn)	Wilson disease [RCV004016743]	uncertain significance	13	52011315	52011315	Human	1	name
405752169	CV3234328	single nucleotide variant	NM_000053.4(ATP7B):c.183A>G (p.Thr61=)	Wilson disease [RCV004016378]	likely benign	13	51975037	51975037	Human	1	name
596940617	CV3545014	single nucleotide variant	NM_000053.4(ATP7B):c.195G>A (p.Leu65=)	Wilson disease [RCV004802555]	likely benign	13	51975025	51975025	Human	1	name
596943459	CV3546720	deletion	NM_000053.4(ATP7B):c.2865+6_2865+12del	Wilson disease [RCV004807845]	uncertain significance	13	51949650	51949656	Human	1	name
598211606	CV3920989	single nucleotide variant	NM_000053.4(ATP7B):c.189G>A (p.Arg63=)	Inborn genetic diseases [RCV005292036]	likely benign	13	51975031	51975031	Human	1	name
8569226	CV44363	duplication	NM_000053.4(ATP7B):c.-123_-119dupCGCCG	ALG11-congenital disorder of glycosylation [RCV001517235]\|Congenital disorder of glycosylation [RCV000332700]\|Inborn genetic diseases [RCV004017267]\|Wilson disease [RCV000029348]\|not provided [RCV001356992]\|not specified [RCV002222329]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	52011455	52011456	Human	4	name
13787720	CV547075	microsatellite	NM_000053.3(ATP7B):c.-127_-126GC[2][1]	Wilson disease [RCV000673605]	uncertain significance	13	52011462	52011463	Human		name
13784563	CV547408	insertion	NM_000053.3(ATP7B):c.-128_-127insGCCGT	Wilson disease [RCV000670993]	uncertain significance	13	52011460	52011461	Human	1	name
15181237	CV769612	single nucleotide variant	NM_000053.4(ATP7B):c.142C>T (p.Leu48=)	Wilson disease [RCV001418468]	likely benign	13	51975078	51975078	Human	1	name
40889508	CV972590	single nucleotide variant	NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro)	Wilson disease [RCV002542842]\|not specified [RCV001264581]	uncertain significance	13	52011327	52011327	Human	1	name
126734592	CV1000852	single nucleotide variant	NM_000053.4(ATP7B):c.423G>A (p.Gln141=)	Wilson disease [RCV001404703]\|not provided [RCV001311348]	likely benign	13	51974797	51974797	Human	1	name
126911137	CV1048379	single nucleotide variant	NM_000053.4(ATP7B):c.348T>A (p.Ile116=)	Wilson disease [RCV001369087]	likely benign\|uncertain significance	13	51974872	51974872	Human	1	name
127248664	CV1080165	single nucleotide variant	NM_000053.4(ATP7B):c.951A>G (p.Ala317=)	Inborn genetic diseases [RCV003160674]\|Wilson disease [RCV001417191]	likely benign	13	51974269	51974269	Human	2	name
127247240	CV1080166	single nucleotide variant	NM_000053.4(ATP7B):c.909T>G (p.Pro303=)	Inborn genetic diseases [RCV003160670]\|Wilson disease [RCV001416875]	likely benign	13	51974311	51974311	Human	2	name
127278694	CV1080167	single nucleotide variant	NM_000053.4(ATP7B):c.874T>C (p.Leu292=)	Wilson disease [RCV001408618]	likely benign	13	51974346	51974346	Human	1	name
127270248	CV1080168	single nucleotide variant	NM_000053.4(ATP7B):c.867A>G (p.Gln289=)	Wilson disease [RCV001404925]	likely benign	13	51974353	51974353	Human	1	name
127278377	CV1080169	single nucleotide variant	NM_000053.4(ATP7B):c.774C>T (p.Thr258=)	Wilson disease [RCV001408441]	likely benign	13	51974446	51974446	Human	1	name
127232244	CV1080170	single nucleotide variant	NM_000053.4(ATP7B):c.768G>A (p.Val256=)	Wilson disease [RCV001395612]	likely benign	13	51974452	51974452	Human	1	name
127240007	CV1080171	single nucleotide variant	NM_000053.4(ATP7B):c.600T>C (p.His200=)	Wilson disease [RCV001415475]	likely benign	13	51974620	51974620	Human	1	name
127233994	CV1080172	single nucleotide variant	NM_000053.4(ATP7B):c.534C>A (p.Leu178=)	Wilson disease [RCV001414113]	likely benign	13	51974686	51974686	Human	1	name
127274878	CV1080173	single nucleotide variant	NM_000053.4(ATP7B):c.462C>T (p.Cys154=)	Wilson disease [RCV001406505]	likely benign	13	51974758	51974758	Human	1	name
127256908	CV1080174	single nucleotide variant	NM_000053.4(ATP7B):c.459C>A (p.Thr153=)	Wilson disease [RCV001401335]	likely benign	13	51974761	51974761	Human	1	name
127251950	CV1101969	single nucleotide variant	NM_000053.4(ATP7B):c.945C>T (p.Ile315=)	Wilson disease [RCV001425738]	likely benign	13	51974275	51974275	Human	1	name
127273489	CV1101970	single nucleotide variant	NM_000053.4(ATP7B):c.828A>G (p.Glu276=)	Wilson disease [RCV001431643]	likely benign	13	51974392	51974392	Human	1	name
127263064	CV1101971	single nucleotide variant	NM_000053.4(ATP7B):c.582C>G (p.Pro194=)	Wilson disease [RCV001439199]	likely benign	13	51974638	51974638	Human	1	name
127281460	CV1101972	single nucleotide variant	NM_000053.4(ATP7B):c.502C>T (p.Leu168=)	Wilson disease [RCV001447176]	likely benign	13	51974718	51974718	Human	1	name
127250715	CV1101973	single nucleotide variant	NM_000053.4(ATP7B):c.483T>C (p.Ile161=)	Wilson disease [RCV001436431]	likely benign	13	51974737	51974737	Human	1	name
127244607	CV1101974	single nucleotide variant	NM_000053.4(ATP7B):c.465G>A (p.Gln155=)	Wilson disease [RCV001424132]	likely benign	13	51974755	51974755	Human	1	name
127263362	CV1101975	single nucleotide variant	NM_000053.4(ATP7B):c.447G>A (p.Val149=)	Wilson disease [RCV001428543]	likely benign\|conflicting interpretations of pathogenicity	13	51974773	51974773	Human	1	name
127311835	CV1123435	single nucleotide variant	NM_000053.4(ATP7B):c.861T>C (p.Ser287=)	Wilson disease [RCV001457011]	likely benign	13	51974359	51974359	Human	1	name
127294037	CV1123436	single nucleotide variant	NM_000053.4(ATP7B):c.327G>A (p.Leu109=)	Inborn genetic diseases [RCV002449216]\|Wilson disease [RCV001452155]\|not specified [RCV002282551]	likely benign	13	51974893	51974893	Human	2	name
127312535	CV1144281	single nucleotide variant	NM_000053.4(ATP7B):c.873C>T (p.Ser291=)	Wilson disease [RCV001501950]	likely benign	13	51974347	51974347	Human	1	name
127305409	CV1144282	single nucleotide variant	NM_000053.4(ATP7B):c.745T>C (p.Leu249=)	Wilson disease [RCV001499904]	likely benign	13	51974475	51974475	Human	1	name
127316863	CV1144283	single nucleotide variant	NM_000053.4(ATP7B):c.696A>G (p.Pro232=)	Wilson disease [RCV001482997]	likely benign	13	51974524	51974524	Human	1	name
127296208	CV1144284	single nucleotide variant	NM_000053.4(ATP7B):c.510A>C (p.Gly170=)	Wilson disease [RCV001497421]	likely benign	13	51974710	51974710	Human	1	name
127321113	CV1144285	single nucleotide variant	NM_000053.4(ATP7B):c.471T>C (p.Cys157=)	Wilson disease [RCV001484437]	likely benign	13	51974749	51974749	Human	1	name
127322587	CV1144286	single nucleotide variant	NM_000053.4(ATP7B):c.459C>T (p.Thr153=)	Inborn genetic diseases [RCV002334559]\|Wilson disease [RCV001505169]	likely benign	13	51974761	51974761	Human	2	name
127328309	CV1151128	deletion	NM_000053.4(ATP7B):c.122del (p.Asn41fs)	Wilson disease [RCV001506992]	pathogenic	13	51975098	51975098	Human	1	name
150412630	CV1185950	single nucleotide variant	NM_000053.4(ATP7B):c.432G>T (p.Val144=)	Wilson disease [RCV001559286]	conflicting interpretations of pathogenicity\|uncertain significance	13	51974788	51974788	Human	1	name
151860275	CV1400101	deletion	NM_000053.4(ATP7B):c.1869+18_1869+20del	Wilson disease [RCV001997051]	conflicting interpretations of pathogenicity\|uncertain significance	13	51964852	51964854	Human	1	name
152047928	CV1519835	single nucleotide variant	NM_000053.4(ATP7B):c.774C>G (p.Thr258=)	Wilson disease [RCV002145300]	likely benign	13	51974446	51974446	Human	1	name
152051488	CV1527980	single nucleotide variant	NM_000053.4(ATP7B):c.543A>G (p.Gln181=)	Wilson disease [RCV002089215]	likely benign	13	51974677	51974677	Human	1	name
152125744	CV1548641	single nucleotide variant	NM_000053.4(ATP7B):c.678G>A (p.Arg226=)	Wilson disease [RCV002082191]	likely benign	13	51974542	51974542	Human	1	name
152167441	CV1557979	single nucleotide variant	NM_000053.4(ATP7B):c.306T>C (p.Tyr102=)	Wilson disease [RCV002182171]	likely benign	13	51974914	51974914	Human	1	name
152137604	CV1563416	single nucleotide variant	NM_000053.4(ATP7B):c.847C>T (p.Leu283=)	Wilson disease [RCV002200154]	likely benign	13	51974373	51974373	Human	1	name
152173701	CV1567102	single nucleotide variant	NM_000053.4(ATP7B):c.876G>A (p.Leu292=)	Wilson disease [RCV002144199]	likely benign	13	51974344	51974344	Human	1	name
152029569	CV1568527	single nucleotide variant	NM_000053.4(ATP7B):c.570T>C (p.Tyr190=)	Wilson disease [RCV002186208]	likely benign	13	51974650	51974650	Human	1	name
152047271	CV1580310	single nucleotide variant	NM_000053.4(ATP7B):c.693C>T (p.Asn231=)	Wilson disease [RCV002166421]	likely benign	13	51974527	51974527	Human	1	name
152145568	CV1582684	single nucleotide variant	NM_000053.4(ATP7B):c.900G>A (p.Lys300=)	Wilson disease [RCV002201186]	likely benign	13	51974320	51974320	Human	1	name
152063291	CV1587760	single nucleotide variant	NM_000053.4(ATP7B):c.921C>T (p.Ser307=)	Wilson disease [RCV002090524]	likely benign	13	51974299	51974299	Human	1	name
152102167	CV1590666	single nucleotide variant	NM_000053.4(ATP7B):c.597C>T (p.Asp199=)	Wilson disease [RCV002115486]	likely benign	13	51974623	51974623	Human	1	name
152159287	CV1597048	single nucleotide variant	NM_000053.4(ATP7B):c.582C>T (p.Pro194=)	Wilson disease [RCV002159346]	likely benign	13	51974638	51974638	Human	1	name
152097536	CV1597655	single nucleotide variant	NM_000053.4(ATP7B):c.528C>T (p.Val176=)	Wilson disease [RCV002114888]	likely benign	13	51974692	51974692	Human	1	name
152087335	CV1601202	single nucleotide variant	NM_000053.4(ATP7B):c.816C>T (p.Val272=)	Wilson disease [RCV002093671]	likely benign	13	51974404	51974404	Human	1	name
152077358	CV1601845	single nucleotide variant	NM_000053.4(ATP7B):c.495C>T (p.Val165=)	Wilson disease [RCV002148862]	likely benign	13	51974725	51974725	Human	1	name
152090681	CV1602730	single nucleotide variant	NM_000053.4(ATP7B):c.354C>T (p.Asp118=)	Wilson disease [RCV002194255]	likely benign	13	51974866	51974866	Human	1	name
152123364	CV1613716	single nucleotide variant	NM_000053.4(ATP7B):c.954T>C (p.Leu318=)	Wilson disease [RCV002081869]	likely benign	13	51974266	51974266	Human	1	name
152124646	CV1629992	single nucleotide variant	NM_000053.4(ATP7B):c.396C>T (p.Ser132=)	Inborn genetic diseases [RCV003161348]\|Wilson disease [RCV002154705]	likely benign	13	51974824	51974824	Human	2	name
152074390	CV1647489	single nucleotide variant	NM_000053.4(ATP7B):c.444G>A (p.Arg148=)	Wilson disease [RCV002210397]	likely benign	13	51974776	51974776	Human	1	name
152172835	CV1652736	single nucleotide variant	NM_000053.4(ATP7B):c.744C>T (p.Thr248=)	Wilson disease [RCV002143909]	likely benign	13	51974476	51974476	Human	1	name
9684435	CV167805	single nucleotide variant	NM_000053.4(ATP7B):c.41C>A (p.Ala14Asp)	not specified [RCV000145283]	benign	13	52011297	52011297	Human		name
9684437	CV167807	single nucleotide variant	NM_000053.4(ATP7B):c.870G>C (p.Val290=)	not specified [RCV000145286]	benign	13	51974350	51974350	Human		name
155728902	CV1782601	duplication	NM_000053.4(ATP7B):c.167dup (p.Val57fs)	Wilson disease [RCV002308133]	likely pathogenic	13	51975052	51975053	Human	1	name
155724522	CV1804698	single nucleotide variant	NM_000053.4(ATP7B):c.654C>T (p.Ser218=)	Inborn genetic diseases [RCV002364354]	likely benign	13	51974566	51974566	Human	1	name
156394464	CV1876389	single nucleotide variant	NM_000053.4(ATP7B):c.76A>G (p.Thr26Ala)	Wilson disease [RCV003068422]	uncertain significance	13	51975144	51975144	Human	1	name
156362893	CV1881428	single nucleotide variant	NM_000053.4(ATP7B):c.33A>T (p.Arg11Ser)	Wilson disease [RCV003065747]	uncertain significance	13	52011305	52011305	Human	1	name
156291223	CV1881854	duplication	NM_000053.4(ATP7B):c.2448-37_2448-19dup	Wilson disease [RCV003061468]	likely benign	13	51950417	51950418	Human	1	name
155961170	CV1884796	single nucleotide variant	NM_000053.4(ATP7B):c.840C>G (p.Gly280=)	Wilson disease [RCV003074691]	likely benign	13	51974380	51974380	Human	1	name
156180998	CV1888422	single nucleotide variant	NM_000053.4(ATP7B):c.315G>A (p.Ser105=)	Wilson disease [RCV003083557]	likely benign	13	51974905	51974905	Human	1	name
156192770	CV1901777	single nucleotide variant	NM_000053.4(ATP7B):c.894A>G (p.Gln298=)	Wilson disease [RCV002595431]	uncertain significance	13	51974326	51974326	Human	1	name
156016016	CV1912807	single nucleotide variant	NM_000053.4(ATP7B):c.441C>T (p.Leu147=)	Wilson disease [RCV002619148]	likely benign	13	51974779	51974779	Human	1	name
155956817	CV1915504	single nucleotide variant	NM_000053.4(ATP7B):c.98T>G (p.Met33Arg)	Wilson disease [RCV002616520]\|not provided [RCV004725553]	uncertain significance	13	51975122	51975122	Human	1	name
156449440	CV1945042	single nucleotide variant	NM_000053.4(ATP7B):c.579G>A (p.Gln193=)	Wilson disease [RCV003121562]	likely benign	13	51974641	51974641	Human	1	name
156444915	CV1949058	single nucleotide variant	NM_000053.4(ATP7B):c.441C>G (p.Leu147=)	Wilson disease [RCV003115848]	likely benign	13	51974779	51974779	Human	1	name
156387075	CV1986701	single nucleotide variant	NM_000053.4(ATP7B):c.906C>T (p.Asp302=)	Wilson disease [RCV002634682]	likely benign	13	51974314	51974314	Human	1	name
156393270	CV1987962	deletion	NM_000053.4(ATP7B):c.210del (p.Gln70fs)	Wilson disease [RCV002635194]	pathogenic	13	51975010	51975010	Human	1	name
156300976	CV2017324	microsatellite	NM_000053.4(ATP7B):c.2866-15_2866-14del	Wilson disease [RCV002716058]	likely benign	13	51946492	51946493	Human		name
156131654	CV2022765	single nucleotide variant	NM_000053.4(ATP7B):c.40G>A (p.Ala14Thr)	Wilson disease [RCV002740587]	uncertain significance	13	52011298	52011298	Human	1	name
156069953	CV2032564	single nucleotide variant	NM_000053.4(ATP7B):c.46C>G (p.Arg16Gly)	Wilson disease [RCV002760290]	uncertain significance	13	52011292	52011292	Human	1	name
155910801	CV2032995	single nucleotide variant	NM_000053.4(ATP7B):c.649T>C (p.Leu217=)	Wilson disease [RCV002750121]	likely benign	13	51974571	51974571	Human	1	name
156190830	CV2037936	single nucleotide variant	NM_000053.4(ATP7B):c.663A>C (p.Pro221=)	Wilson disease [RCV002765905]	likely benign	13	51974557	51974557	Human	1	name
156302870	CV2070033	single nucleotide variant	NM_000053.4(ATP7B):c.678G>T (p.Arg226=)	Wilson disease [RCV002833707]	likely benign	13	51974542	51974542	Human	1	name
156161295	CV2095229	single nucleotide variant	NM_000053.4(ATP7B):c.495C>A (p.Val165=)	Wilson disease [RCV002891006]	likely benign	13	51974725	51974725	Human	1	name
156104434	CV2096349	single nucleotide variant	NM_000053.4(ATP7B):c.441C>A (p.Leu147=)	Wilson disease [RCV002913529]	likely benign	13	51974779	51974779	Human	1	name
155972946	CV2135866	single nucleotide variant	NM_000053.4(ATP7B):c.62A>T (p.Lys21Met)	Inborn genetic diseases [RCV005288866]\|Wilson disease [RCV002995715]\|not provided [RCV004593117]	conflicting interpretations of pathogenicity\|uncertain significance	13	51975158	51975158	Human	2	name
156294943	CV2152985	single nucleotide variant	NM_000053.4(ATP7B):c.825T>C (p.Ile275=)	Wilson disease [RCV003010121]	likely benign	13	51974395	51974395	Human	1	name
156311427	CV2165437	single nucleotide variant	NM_000053.4(ATP7B):c.496C>A (p.Arg166=)	Wilson disease [RCV003028604]	likely benign	13	51974724	51974724	Human	1	name
155999447	CV2167977	single nucleotide variant	NM_000053.4(ATP7B):c.963G>A (p.Gly321=)	Inborn genetic diseases [RCV004068662]\|Wilson disease [RCV003034702]	likely benign	13	51974257	51974257	Human	2	name
156120005	CV2174839	single nucleotide variant	NM_000053.4(ATP7B):c.852G>C (p.Gly284=)	Wilson disease [RCV003055429]	likely benign	13	51974368	51974368	Human	1	name
401901908	CV2813909	single nucleotide variant	NM_000053.4(ATP7B):c.38G>A (p.Gly13Glu)	not provided [RCV003393323]	uncertain significance	13	52011300	52011300	Human		name
401946147	CV2833543	duplication	NM_000053.4(ATP7B):c.291dup (p.Ala98fs)	Wilson disease [RCV003464952]	pathogenic\|likely pathogenic	13	51974928	51974929	Human	1	name
402467542	CV2863198	single nucleotide variant	NM_000053.4(ATP7B):c.408G>A (p.Arg136=)	Wilson disease [RCV003503574]	likely benign	13	51974812	51974812	Human	1	name
402467481	CV2866459	single nucleotide variant	NM_000053.4(ATP7B):c.312A>G (p.Pro104=)	Wilson disease [RCV003503557]	likely benign	13	51974908	51974908	Human	1	name
402467834	CV2867022	single nucleotide variant	NM_000053.4(ATP7B):c.834T>C (p.Asn278=)	Wilson disease [RCV003503643]	likely benign	13	51974386	51974386	Human	1	name
405045103	CV2964772	deletion	NM_000053.4(ATP7B):c.1869+19_1869+20del	Wilson disease [RCV003610099]	likely benign	13	51964852	51964853	Human	1	name
405046309	CV2966090	single nucleotide variant	NM_000053.4(ATP7B):c.633G>A (p.Lys211=)	Wilson disease [RCV003610186]	likely benign	13	51974587	51974587	Human	1	name
405046656	CV2966575	single nucleotide variant	NM_000053.4(ATP7B):c.567T>G (p.Pro189=)	Wilson disease [RCV003610214]	likely benign	13	51974653	51974653	Human	1	name
405046009	CV2972871	deletion	NM_000053.4(ATP7B):c.202del (p.Thr68fs)	Wilson disease [RCV003610165]	pathogenic	13	51975018	51975018	Human	1	name
405048698	CV2978783	single nucleotide variant	NM_000053.4(ATP7B):c.960T>C (p.Pro320=)	Wilson disease [RCV003610346]	likely benign	13	51974260	51974260	Human	1	name
405031893	CV3006310	single nucleotide variant	NM_000053.4(ATP7B):c.321G>T (p.Val107=)	Wilson disease [RCV003608935]	likely benign	13	51974899	51974899	Human	1	name
405030592	CV3008031	single nucleotide variant	NM_000053.4(ATP7B):c.552C>T (p.Val184=)	Wilson disease [RCV003608828]	likely benign	13	51974668	51974668	Human	1	name
405034230	CV3019799	deletion	NM_000053.4(ATP7B):c.130del (p.Tyr44fs)	Wilson disease [RCV003609132]	pathogenic	13	51975090	51975090	Human	1	name
405033060	CV3021683	single nucleotide variant	NM_000053.4(ATP7B):c.993C>G (p.Ala331=)	Wilson disease [RCV003609033]	likely benign	13	51974227	51974227	Human	1	name
405034303	CV3029971	single nucleotide variant	NM_000053.4(ATP7B):c.852G>T (p.Gly284=)	Wilson disease [RCV003609138]	likely benign	13	51974368	51974368	Human	1	name
405053533	CV3046872	single nucleotide variant	NM_000053.4(ATP7B):c.783G>A (p.Leu261=)	Wilson disease [RCV003610749]	likely benign\|conflicting interpretations of pathogenicity	13	51974437	51974437	Human	1	name
405053563	CV3046931	single nucleotide variant	NM_000053.4(ATP7B):c.672T>C (p.Ile224=)	Wilson disease [RCV003610752]	likely benign	13	51974548	51974548	Human	1	name
405043519	CV3070769	deletion	NM_000053.4(ATP7B):c.1543+17_1543+18del	Wilson disease [RCV003609814]	likely benign	13	51970474	51970475	Human	1	name
405047086	CV3080814	single nucleotide variant	NM_000053.4(ATP7B):c.903T>C (p.Tyr301=)	Wilson disease [RCV003609989]	likely benign\|conflicting interpretations of pathogenicity	13	51974317	51974317	Human	1	name
405217884	CV3135639	single nucleotide variant	NM_000053.4(ATP7B):c.564G>A (p.Gln188=)	Wilson disease [RCV003824264]	likely benign	13	51974656	51974656	Human	1	name
405193596	CV3146056	single nucleotide variant	NM_000053.4(ATP7B):c.477C>T (p.Ser159=)	Wilson disease [RCV003843603]	likely benign	13	51974743	51974743	Human	1	name
405237348	CV3169206	single nucleotide variant	NM_000053.4(ATP7B):c.789A>T (p.Ile263=)	Wilson disease [RCV003866485]	likely benign	13	51974431	51974431	Human	1	name
405733819	CV3229579	single nucleotide variant	NM_000053.4(ATP7B):c.77C>T (p.Thr26Ile)	Wilson disease [RCV004014146]	uncertain significance	13	51975143	51975143	Human	1	name
405695182	CV3230110	single nucleotide variant	NM_000053.4(ATP7B):c.58T>G (p.Ser20Ala)	Wilson disease [RCV004008028]	uncertain significance	13	51975162	51975162	Human	1	name
405695570	CV3230167	single nucleotide variant	NM_000053.4(ATP7B):c.333G>A (p.Gln111=)	Wilson disease [RCV004008086]	likely benign	13	51974887	51974887	Human	1	name
405723450	CV3230317	single nucleotide variant	NM_000053.4(ATP7B):c.819G>A (p.Leu273=)	Wilson disease [RCV004013069]	likely benign	13	51974401	51974401	Human	1	name
405723486	CV3230321	single nucleotide variant	NM_000053.4(ATP7B):c.771C>G (p.Val257=)	Wilson disease [RCV004013073]	likely benign	13	51974449	51974449	Human	1	name
405724286	CV3230405	single nucleotide variant	NM_000053.4(ATP7B):c.660A>G (p.Gly220=)	Wilson disease [RCV004013158]	likely benign	13	51974560	51974560	Human	1	name
405725169	CV3230492	single nucleotide variant	NM_000053.4(ATP7B):c.546G>A (p.Glu182=)	Wilson disease [RCV004013245]	likely benign	13	51974674	51974674	Human	1	name
405705212	CV3231630	single nucleotide variant	NM_000053.4(ATP7B):c.99G>A (p.Met33Ile)	Wilson disease [RCV004010173]	uncertain significance	13	51975121	51975121	Human	1	name
405754198	CV3232523	single nucleotide variant	NM_000053.4(ATP7B):c.897A>G (p.Val299=)	Wilson disease [RCV004016659]	likely benign	13	51974323	51974323	Human	1	name
405667432	CV3297726	single nucleotide variant	NM_000053.4(ATP7B):c.52A>G (p.Ile18Val)	Inborn genetic diseases [RCV004418804]	uncertain significance	13	51975168	51975168	Human	1	name
408383725	CV3506897	single nucleotide variant	NM_000053.4(ATP7B):c.92C>T (p.Pro31Leu)	ATP7B-related disorder [RCV004730743]	uncertain significance	13	51975128	51975128	Human		name , trait , alternate_id
596940485	CV3544915	single nucleotide variant	NM_000053.4(ATP7B):c.840C>T (p.Gly280=)	Wilson disease [RCV004802456]	likely benign	13	51974380	51974380	Human	1	name
596940512	CV3544928	single nucleotide variant	NM_000053.4(ATP7B):c.750G>A (p.Gly250=)	Wilson disease [RCV004802469]	likely benign	13	51974470	51974470	Human	1	name
596940552	CV3544949	single nucleotide variant	NM_000053.4(ATP7B):c.603A>G (p.Val201=)	Wilson disease [RCV004802490]	likely benign	13	51974617	51974617	Human	1	name
596940563	CV3544960	single nucleotide variant	NM_000053.4(ATP7B):c.558T>C (p.Thr186=)	Wilson disease [RCV004802501]	likely benign	13	51974662	51974662	Human	1	name
12740007	CV358241	duplication	NM_000053.4(ATP7B):c.174dup (p.Thr59fs)	Wilson disease [RCV000410969]\|not provided [RCV004791437]	pathogenic\|likely pathogenic	13	51975045	51975046	Human	1	name
597629352	CV3617268	single nucleotide variant	NM_000053.4(ATP7B):c.79C>G (p.Arg27Gly)	Inborn genetic diseases [RCV004967057]	uncertain significance	13	51975141	51975141	Human	1	name
597686899	CV3714471	single nucleotide variant	NM_000053.4(ATP7B):c.79C>T (p.Arg27Cys)	Wilson disease [RCV005006976]	uncertain significance	13	51975141	51975141	Human	1	name
597831638	CV3740058	single nucleotide variant	NM_000053.4(ATP7B):c.756A>G (p.Gln252=)	Wilson disease [RCV005062756]	likely benign	13	51974464	51974464	Human	1	name
597906771	CV3781383	single nucleotide variant	NM_000053.4(ATP7B):c.837T>C (p.Ile279=)	Wilson disease [RCV005128071]	likely benign	13	51974383	51974383	Human	1	name
597903017	CV3800261	deletion	NM_000053.4(ATP7B):c.3060+13_3060+16del	Wilson disease [RCV005127433]	likely benign	13	51946268	51946271	Human	1	name
597976407	CV3820145	single nucleotide variant	NM_000053.4(ATP7B):c.480C>A (p.Ser160=)	Wilson disease [RCV005169923]	likely benign	13	51974740	51974740	Human	1	name
597850544	CV3824593	single nucleotide variant	NM_000053.4(ATP7B):c.849A>G (p.Leu283=)	Wilson disease [RCV005173632]	likely benign	13	51974371	51974371	Human	1	name
597920136	CV3842693	single nucleotide variant	NM_000053.4(ATP7B):c.780A>G (p.Gln260=)	Wilson disease [RCV005184178]	likely benign	13	51974440	51974440	Human	1	name
598124456	CV3885204	deletion	NM_000053.4(ATP7B):c.129del (p.Tyr44fs)	Wilson disease [RCV005239781]	pathogenic	13	51975091	51975091	Human	1	name
8569263	CV44400	single nucleotide variant	NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)	ATP7B-related disorder [RCV003407365]\|Inborn genetic diseases [RCV000624795]\|Wilson disease [RCV000029385]\|not provided [RCV000588851]\|not specified [RCV004767020]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51975122	51975122	Human	2	name , alternate_id
13517878	CV491611	single nucleotide variant	NM_000053.4(ATP7B):c.999G>T (p.Gly333=)	Wilson disease [RCV004002461]\|not provided [RCV000596907]	likely benign\|uncertain significance	13	51974221	51974221	Human	1	name
13528279	CV504294	single nucleotide variant	NM_000053.4(ATP7B):c.325C>T (p.Leu109=)	Inborn genetic diseases [RCV002325149]\|Wilson disease [RCV000603728]\|not provided [RCV001726257]\|not specified [RCV000612067]	likely benign\|conflicting interpretations of pathogenicity	13	51974895	51974895	Human	2	name
13784145	CV547406	duplication	NM_000053.4(ATP7B):c.111dup (p.Ala38fs)	Wilson disease [RCV000670588]	pathogenic	13	51975108	51975109	Human	1	name
15137041	CV688179	single nucleotide variant	NM_000053.4(ATP7B):c.549C>T (p.Ala183=)	Wilson disease [RCV000864599]	likely benign	13	51974671	51974671	Human	1	name
15154135	CV702722	single nucleotide variant	NM_000053.4(ATP7B):c.540C>T (p.Asn180=)	Inborn genetic diseases [RCV002346150]\|Wilson disease [RCV000946227]	benign\|likely benign	13	51974680	51974680	Human	2	name
15186654	CV739067	single nucleotide variant	NM_000053.4(ATP7B):c.618T>C (p.Phe206=)	Wilson disease [RCV001443539]\|not specified [RCV002307641]	likely benign	13	51974602	51974602	Human	1	name
15150716	CV760277	insertion	NM_000053.4(ATP7B):c.2447+8_2447+9insAA	Wilson disease [RCV000923529]	likely benign	13	51957507	51957508	Human	1	name
15119863	CV769608	single nucleotide variant	NM_000053.4(ATP7B):c.993C>T (p.Ala331=)	Inborn genetic diseases [RCV002382150]\|Wilson disease [RCV000940251]	likely benign	13	51974227	51974227	Human	2	name
15141459	CV769609	single nucleotide variant	NM_000053.4(ATP7B):c.879G>A (p.Glu293=)	Inborn genetic diseases [RCV004029749]\|Wilson disease [RCV000943899]	likely benign	13	51974341	51974341	Human	2	name
15139563	CV769610	single nucleotide variant	NM_000053.4(ATP7B):c.813C>T (p.Cys271=)	Wilson disease [RCV000943573]	benign\|conflicting interpretations of pathogenicity	13	51974407	51974407	Human	1	name
15121920	CV784626	single nucleotide variant	NM_000053.4(ATP7B):c.990A>G (p.Gly330=)	Wilson disease [RCV000979556]	likely benign\|conflicting interpretations of pathogenicity	13	51974230	51974230	Human	1	name
15132394	CV784627	single nucleotide variant	NM_000053.4(ATP7B):c.781C>T (p.Leu261=)	Wilson disease [RCV000981374]	likely benign	13	51974439	51974439	Human	1	name
15140081	CV784628	single nucleotide variant	NM_000053.4(ATP7B):c.747G>A (p.Leu249=)	Wilson disease [RCV000982754]	likely benign	13	51974473	51974473	Human	1	name
28888384	CV860070	single nucleotide variant	NM_000053.4(ATP7B):c.561T>C (p.Tyr187=)	Wilson disease [RCV002069608]	likely benign	13	51974659	51974659	Human	1	name
28911423	CV871453	single nucleotide variant	NM_000053.4(ATP7B):c.609C>T (p.Asp203=)	Wilson disease [RCV001110502]	conflicting interpretations of pathogenicity\|uncertain significance	13	51974611	51974611	Human	1	name
28911851	CV871454	single nucleotide variant	NM_000053.4(ATP7B):c.363C>T (p.Phe121=)	Inborn genetic diseases [RCV005278734]\|Wilson disease [RCV001111263]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51974857	51974857	Human	2	name
28911852	CV871455	single nucleotide variant	NM_000053.4(ATP7B):c.80G>A (p.Arg27His)	Wilson disease [RCV001111264]	uncertain significance	13	51975140	51975140	Human	1	name
40888812	CV972197	single nucleotide variant	NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter)	Wilson disease [RCV001263832]	likely pathogenic	13	51975134	51975134	Human	1	name
40906610	CV979409	single nucleotide variant	NM_000053.4(ATP7B):c.690T>C (p.Thr230=)	Wilson disease [RCV001280020]	likely benign\|uncertain significance	13	51974530	51974530	Human	1	name
40906612	CV979411	single nucleotide variant	NM_000053.4(ATP7B):c.360C>T (p.Gly120=)	Inborn genetic diseases [RCV002451637]\|Wilson disease [RCV001280022]	likely benign\|uncertain significance	13	51974860	51974860	Human	2	name
40906616	CV979415	single nucleotide variant	NM_000053.4(ATP7B):c.35A>T (p.Glu12Val)	Wilson disease [RCV001280026]	uncertain significance	13	52011303	52011303	Human	1	name
9589488	CV166200	single nucleotide variant	NM_000053.4(ATP7B):c.222G>C (p.Lys74Asn)	not provided [RCV000144490]	not provided	13	51974998	51974998	Human		name
9681931	CV167775	single nucleotide variant	NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	ATP7B-related disorder [RCV004751288]\|Inborn genetic diseases [RCV002514798]\|Wilson disease [RCV000145251]\|not provided [RCV000416017]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51975098	51975098	Human	2	name , alternate_id
9684413	CV167778	single nucleotide variant	NM_000053.4(ATP7B):c.1878C>T (p.Gly626=)	Wilson disease [RCV001495396]\|not specified [RCV000145254]	benign\|likely benign	13	51961905	51961905	Human	1	name
9684416	CV167782	single nucleotide variant	NM_000053.4(ATP7B):c.2166G>A (p.Leu722=)	Wilson disease [RCV003998162]\|not specified [RCV000145258]	benign\|likely benign	13	51958500	51958500	Human	1	name
9681933	CV167783	single nucleotide variant	NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)	Inborn genetic diseases [RCV002426698]\|Wilson disease [RCV001084480]\|not provided [RCV000588095]\|not specified [RCV000145259]	benign\|likely benign\|conflicting interpretations of pathogenicity	13	51958491	51958491	Human	2	name
9684417	CV167784	single nucleotide variant	NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)	ATP7B-related disorder [RCV003895023]\|Wilson disease [RCV000855544]\|not provided [RCV002225450]\|not specified [RCV000145260]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51958374	51958374	Human	1	name , alternate_id
9684420	CV167788	single nucleotide variant	NM_000053.4(ATP7B):c.2673C>G (p.Gly891=)	not specified [RCV000145265]	benign	13	51950064	51950064	Human		name
405737340	CV3228638	single nucleotide variant	NM_000053.4(ATP7B):c.278T>G (p.Leu93Arg)	Wilson disease [RCV004014557]	uncertain significance	13	51974942	51974942	Human	1	name
405754427	CV3232513	single nucleotide variant	NM_000053.4(ATP7B):c.1275A>G (p.Ser425=)	Wilson disease [RCV004016649]	likely benign	13	51973945	51973945	Human	1	name
405757863	CV3233168	single nucleotide variant	NM_000053.4(ATP7B):c.2907G>C (p.Arg969=)	Wilson disease [RCV004017122]	likely benign	13	51946437	51946437	Human	1	name
405757877	CV3233170	single nucleotide variant	NM_000053.4(ATP7B):c.2766A>T (p.Gly922=)	Wilson disease [RCV004017124]	likely benign	13	51949761	51949761	Human	1	name
405757884	CV3233171	single nucleotide variant	NM_000053.4(ATP7B):c.2637A>C (p.Ala879=)	Wilson disease [RCV004017125]	likely benign	13	51950100	51950100	Human	1	name
405750279	CV3233909	single nucleotide variant	NM_000053.4(ATP7B):c.2907G>A (p.Arg969=)	Wilson disease [RCV004016137]	likely benign	13	51946437	51946437	Human	1	name
405751513	CV3234066	single nucleotide variant	NM_000053.4(ATP7B):c.1446C>G (p.Thr482=)	Wilson disease [RCV004016295]	likely benign	13	51970589	51970589	Human	1	name
405752199	CV3234332	single nucleotide variant	NM_000053.4(ATP7B):c.1983C>T (p.Gly661=)	Wilson disease [RCV004016382]	likely benign	13	51960286	51960286	Human	1	name
405752229	CV3234336	single nucleotide variant	NM_000053.4(ATP7B):c.1356A>G (p.Thr452=)	Wilson disease [RCV004016386]	likely benign	13	51970679	51970679	Human	1	name
405752402	CV3234358	single nucleotide variant	NM_000053.4(ATP7B):c.2691T>C (p.Ala897=)	Wilson disease [RCV004016408]	likely benign	13	51950046	51950046	Human	1	name
405855255	CV3394017	deletion	NM_000053.4(ATP7B):c.732del (p.Asn244fs)	Wilson disease [RCV004547243]	likely pathogenic	13	51974488	51974488	Human	1	name
408393420	CV3525520	single nucleotide variant	NM_000053.4(ATP7B):c.1488C>T (p.Gly496=)	Wilson disease [RCV004771403]	likely pathogenic	13	51970547	51970547	Human	1	name
596939317	CV3544594	single nucleotide variant	NM_000053.4(ATP7B):c.2112C>G (p.Thr704=)	Wilson disease [RCV004805218]	uncertain significance	13	51960157	51960157	Human	1	name
596939347	CV3544609	single nucleotide variant	NM_000053.4(ATP7B):c.2064C>A (p.Ile688=)	Wilson disease [RCV004805233]	likely benign	13	51960205	51960205	Human	1	name
596939642	CV3544750	single nucleotide variant	NM_000053.4(ATP7B):c.1587G>A (p.Glu529=)	Wilson disease [RCV004805374]	likely benign	13	51968564	51968564	Human	1	name
596939894	CV3544872	single nucleotide variant	NM_000053.4(ATP7B):c.1035C>T (p.Ser345=)	Wilson disease [RCV004805496]	likely benign	13	51974185	51974185	Human	1	name
596940606	CV3545003	single nucleotide variant	NM_000053.4(ATP7B):c.217G>A (p.Val73Met)	Wilson disease [RCV004802544]	uncertain significance	13	51975003	51975003	Human	1	name
596940609	CV3545006	single nucleotide variant	NM_000053.4(ATP7B):c.216T>G (p.Cys72Trp)	Wilson disease [RCV004802547]	uncertain significance	13	51975004	51975004	Human	1	name
596940630	CV3545027	single nucleotide variant	NM_000053.4(ATP7B):c.154G>A (p.Gly52Ser)	Wilson disease [RCV004802568]	uncertain significance	13	51975066	51975066	Human	1	name
596940632	CV3545029	single nucleotide variant	NM_000053.4(ATP7B):c.148G>A (p.Gly50Ser)	Wilson disease [RCV004802570]	uncertain significance	13	51975072	51975072	Human	1	name
596943584	CV3546756	single nucleotide variant	NM_000053.4(ATP7B):c.2637A>G (p.Ala879=)	Wilson disease [RCV004807883]	likely benign	13	51950100	51950100	Human	1	name
596943598	CV3546761	single nucleotide variant	NM_000053.4(ATP7B):c.2622G>C (p.Ala874=)	Wilson disease [RCV004807888]	likely benign	13	51950115	51950115	Human	1	name
596943658	CV3546779	single nucleotide variant	NM_000053.4(ATP7B):c.2574A>G (p.Thr858=)	Wilson disease [RCV004807906]	likely benign	13	51950273	51950273	Human	1	name
596943713	CV3546797	single nucleotide variant	NM_000053.4(ATP7B):c.2520A>G (p.Pro840=)	Wilson disease [RCV004807924]	likely benign	13	51950327	51950327	Human	1	name
596944240	CV3546870	single nucleotide variant	NM_000053.4(ATP7B):c.2259T>A (p.Ala753=)	Wilson disease [RCV004808494]	likely benign	13	51958407	51958407	Human	1	name
596944274	CV3546880	single nucleotide variant	NM_000053.4(ATP7B):c.2253T>C (p.Ala751=)	Wilson disease [RCV004808504]	likely benign	13	51958413	51958413	Human	1	name
597686496	CV3714431	single nucleotide variant	NM_000053.4(ATP7B):c.2931G>A (p.Thr977=)	Wilson disease [RCV005006937]	uncertain significance	13	51946413	51946413	Human	1	name
597686703	CV3714451	single nucleotide variant	NM_000053.4(ATP7B):c.1500A>G (p.Ala500=)	Wilson disease [RCV005006957]	uncertain significance	13	51970535	51970535	Human	1	name
597686856	CV3714466	deletion	NM_000053.4(ATP7B):c.411del (p.Leu138fs)	Wilson disease [RCV005006972]	likely pathogenic	13	51974809	51974809	Human	1	name
597855211	CV3747708	single nucleotide variant	NM_000053.4(ATP7B):c.295A>C (p.Thr99Pro)	Wilson disease [RCV005066719]	uncertain significance	13	51974925	51974925	Human	1	name
597948356	CV3759148	single nucleotide variant	NM_000053.4(ATP7B):c.1011T>C (p.Asp337=)	Wilson disease [RCV005078945]	likely benign	13	51974209	51974209	Human	1	name
597952062	CV3765547	single nucleotide variant	NM_000053.4(ATP7B):c.2709G>A (p.Val903=)	Wilson disease [RCV005121191]	likely benign	13	51950028	51950028	Human	1	name
597875976	CV3766551	single nucleotide variant	NM_000053.4(ATP7B):c.2301C>G (p.Pro767=)	Wilson disease [RCV005108491]	likely benign	13	51958365	51958365	Human	1	name
597947155	CV3771621	single nucleotide variant	NM_000053.4(ATP7B):c.2481G>T (p.Arg827=)	Wilson disease [RCV005120146]	likely benign	13	51950366	51950366	Human	1	name
597946809	CV3774967	single nucleotide variant	NM_000053.4(ATP7B):c.1641G>A (p.Gln547=)	Wilson disease [RCV005120064]	likely benign	13	51968510	51968510	Human	1	name
597923360	CV3777848	single nucleotide variant	NM_000053.4(ATP7B):c.2478G>A (p.Gln826=)	Wilson disease [RCV005130572]	likely benign	13	51950369	51950369	Human	1	name
597889989	CV3788173	single nucleotide variant	NM_000053.4(ATP7B):c.2223T>C (p.Tyr741=)	Wilson disease [RCV005125531]	likely benign	13	51958443	51958443	Human	1	name
597972933	CV3790827	single nucleotide variant	NM_000053.4(ATP7B):c.2931G>C (p.Thr977=)	Wilson disease [RCV005143042]	likely benign	13	51946413	51946413	Human	1	name
597946608	CV3817734	single nucleotide variant	NM_000053.4(ATP7B):c.2037C>T (p.His679=)	Wilson disease [RCV005160200]	likely benign	13	51960232	51960232	Human	1	name
597974837	CV3831873	single nucleotide variant	NM_000053.4(ATP7B):c.1522A>C (p.Arg508=)	Wilson disease [RCV005168812]	likely benign	13	51970513	51970513	Human	1	name
597906036	CV3846654	single nucleotide variant	NM_000053.4(ATP7B):c.1830G>C (p.Pro610=)	Wilson disease [RCV005182081]	likely benign	13	51964911	51964911	Human	1	name
597902559	CV3851464	single nucleotide variant	NM_000053.4(ATP7B):c.2112C>T (p.Thr704=)	Wilson disease [RCV005202241]	likely benign	13	51960157	51960157	Human	1	name
597904796	CV3853024	single nucleotide variant	NM_000053.4(ATP7B):c.2319C>T (p.Phe773=)	Wilson disease [RCV005202681]	likely benign	13	51958347	51958347	Human	1	name
597881696	CV3857425	single nucleotide variant	NM_000053.4(ATP7B):c.2154C>T (p.Ala718=)	Wilson disease [RCV005199041]	likely benign	13	51958512	51958512	Human	1	name
616935755	CV4009836	single nucleotide variant	NM_000053.4(ATP7B):c.1005G>C (p.Gly335=)	Wilson disease [RCV005400994]	likely benign	13	51974215	51974215	Human	1	name
616935870	CV4010016	single nucleotide variant	NM_000053.4(ATP7B):c.2736C>G (p.Pro912=)	Wilson disease [RCV005401174]	likely benign	13	51949791	51949791	Human	1	name
8569240	CV44377	single nucleotide variant	NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)	Inborn genetic diseases [RCV002433471]\|Wilson disease [RCV000029362]\|not provided [RCV004707855]\|not specified [RCV000078047]	benign\|likely benign\|conflicting interpretations of pathogenicity	13	51946371	51946371	Human	2	name
8569262	CV44399	deletion	NM_000053.4(ATP7B):c.845del (p.Leu282fs)	Wilson disease [RCV000029384]	pathogenic	13	51974375	51974375	Human	1	name
40888810	CV972195	single nucleotide variant	NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter)	Wilson disease [RCV001263830]	likely pathogenic	13	51974991	51974991	Human	1	name
40888811	CV972196	single nucleotide variant	NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter)	Wilson disease [RCV001263831]	likely pathogenic	13	51975000	51975000	Human	1	name
40906274	CV979392	single nucleotide variant	NM_000053.4(ATP7B):c.2730G>A (p.Lys910=)	Wilson disease [RCV001279627]\|not provided [RCV001838470]	uncertain significance	13	51950007	51950007	Human	1	name
40906275	CV979393	single nucleotide variant	NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)	ATP7B-related disorder [RCV003908493]\|Inborn genetic diseases [RCV004035492]\|Wilson disease [RCV001279628]	likely benign\|uncertain significance	13	51950025	51950025	Human	2	name , alternate_id
40906277	CV979395	single nucleotide variant	NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)	Wilson disease [RCV001279630]\|not provided [RCV001579365]	likely benign\|uncertain significance	13	51950384	51950384	Human	1	name
40906278	CV979396	single nucleotide variant	NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)	ATP7B-related disorder [RCV004751948]\|Wilson disease [RCV001279631]	likely benign\|uncertain significance	13	51957589	51957589	Human	1	name , alternate_id
40906280	CV979398	single nucleotide variant	NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)	Wilson disease [RCV001279633]	likely benign\|uncertain significance	13	51958425	51958425	Human	1	name
40906603	CV979402	single nucleotide variant	NM_000053.4(ATP7B):c.1605G>A (p.Glu535=)	Wilson disease [RCV001280013]	likely benign\|uncertain significance	13	51968546	51968546	Human	1	name
40906604	CV979403	single nucleotide variant	NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)	Wilson disease [RCV001280014]\|not provided [RCV002261330]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51968597	51968597	Human	1	name
40906606	CV979405	single nucleotide variant	NM_000053.4(ATP7B):c.1092C>G (p.Ala364=)	Wilson disease [RCV001280016]	likely benign\|uncertain significance	13	51974128	51974128	Human	1	name
40906607	CV979406	single nucleotide variant	NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)	Wilson disease [RCV001280017]	likely benign\|uncertain significance	13	51974218	51974218	Human	1	name
40906613	CV979412	single nucleotide variant	NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys)	Wilson disease [RCV001280023]\|not specified [RCV002307719]	uncertain significance	13	51975089	51975089	Human	1	name
40906614	CV979413	single nucleotide variant	NM_000053.4(ATP7B):c.113C>T (p.Ala38Val)	Wilson disease [RCV001280024]	uncertain significance	13	51975107	51975107	Human	1	name
41405849	CV981842	single nucleotide variant	NM_000053.4(ATP7B):c.2127C>T (p.Leu709=)	Wilson disease [RCV001287686]\|not specified [RCV005236764]	likely benign	13	51958539	51958539	Human	1	name
8639312	CV98298	single nucleotide variant	NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)	Inborn genetic diseases [RCV003162506]\|Wilson disease [RCV000631249]\|not provided [RCV001310698]\|not specified [RCV000078042]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51958356	51958356	Human	2	name
42724440	CV984069	single nucleotide variant	NM_000053.4(ATP7B):c.2355G>A (p.Lys785=)	not provided [RCV001290758]	likely pathogenic	13	51958311	51958311	Human		name
127249716	CV1056160	single nucleotide variant	NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr)	ATP7B-related disorder [RCV003426062]\|Wilson disease [RCV001378212]	pathogenic\|likely pathogenic\|uncertain significance	13	51946357	51946357	Human	1	alternate_id
127298771	CV1123433	single nucleotide variant	NM_000053.4(ATP7B):c.1567T>C (p.Leu523=)	ATP7B-related disorder [RCV003900652]\|Inborn genetic diseases [RCV004968178]\|Wilson disease [RCV001477985]	likely benign	13	51968584	51968584	Human	2	alternate_id
127286559	CV1144264	single nucleotide variant	NM_000053.4(ATP7B):c.2805G>A (p.Thr935=)	ATP7B-related disorder [RCV003980431]\|Wilson disease [RCV001494407]\|not provided [RCV002511090]	likely benign	13	51949722	51949722	Human	1	alternate_id
151844171	CV1363401	single nucleotide variant	NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu)	ATP7B-related disorder [RCV003923417]\|Wilson disease [RCV002032183]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51950131	51950131	Human	1	alternate_id
9684412	CV167777	single nucleotide variant	NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	ATP7B-related disorder [RCV004751289]\|Inborn genetic diseases [RCV003162602]\|Wilson disease [RCV000145253]\|not provided [RCV000415842]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	13	51961906	51961906	Human	2	alternate_id
9681934	CV167786	single nucleotide variant	NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	ATP7B-related disorder [RCV003415974]\|Inborn genetic diseases [RCV000623574]\|Wilson disease [RCV000145263]\|not provided [RCV000413599]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51950132	51950132	Human	2	alternate_id
9684430	CV167798	single nucleotide variant	NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)	ATP7B-related disorder [RCV003895024]\|Inborn genetic diseases [RCV002453467]\|Wilson disease [RCV000350613]\|not specified [RCV000145276]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51941139	51941139	Human	2	alternate_id
9681935	CV167801	single nucleotide variant	NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)	ATP7B-related disorder [RCV003891674]\|Wilson disease [RCV000384354]\|not provided [RCV000589297]\|not specified [RCV000145279]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51937488	51937488	Human	1	alternate_id
9684434	CV167803	single nucleotide variant	NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	ATP7B-related disorder [RCV003895025]\|Wilson disease [RCV000145281]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51935678	51935678	Human	1	alternate_id
9681936	CV167804	single nucleotide variant	NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	ATP7B-related disorder [RCV004751290]\|Inborn genetic diseases [RCV002326851]\|See cases [RCV002252001]\|Wilson disease [RCV000763902]\|not provided [RCV000587055]\|not specified [RCV000309770]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51935019	51935019	Human	2	alternate_id
10041607	CV186875	single nucleotide variant	NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	ATP7B-related disorder [RCV004751319]\|Wilson disease [RCV000169572]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51937484	51937484	Human	1	alternate_id
10041434	CV186884	single nucleotide variant	NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	ATP7B-related disorder [RCV003422061]\|Wilson disease [RCV000169188]\|not provided [RCV001596981]	pathogenic\|likely pathogenic	13	51941186	51941186	Human	1	alternate_id
10041460	CV186886	single nucleotide variant	NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	ATP7B-related disorder [RCV003907530]\|Wilson disease [RCV000169240]\|not provided [RCV001557295]	pathogenic\|likely pathogenic	13	51942535	51942535	Human	1	alternate_id
10041366	CV186888	single nucleotide variant	NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	ATP7B-related disorder [RCV003390880]\|Wilson disease [RCV000169019]\|not provided [RCV001558241]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51946291	51946291	Human	1	alternate_id
10041362	CV186893	single nucleotide variant	NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	ATP7B-related disorder [RCV004751314]\|Wilson disease [RCV000169002]\|not provided [RCV001509440]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51949723	51949723	Human	1	alternate_id
10041486	CV186907	single nucleotide variant	NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	ATP7B-related disorder [RCV004751316]\|Intellectual disability, Wolff type [RCV001823123]\|Wilson disease [RCV000169298]\|not provided [RCV000724151]	pathogenic\|likely pathogenic	13	51974407	51974407	Human	2	alternate_id
10041524	CV186909	deletion	NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	ATP7B-related disorder [RCV003398867]\|Wilson disease [RCV000169375]\|not provided [RCV001291604]	pathogenic\|likely pathogenic	13	51974695	51974696	Human	1	alternate_id
8557720	CV18891	single nucleotide variant	NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	ATP7B-related disorder [RCV003398441]\|Inborn genetic diseases [RCV002444420]\|Wilson disease [RCV000004056]\|not provided [RCV000389880]	pathogenic	13	51958333	51958333	Human	2	alternate_id
8557727	CV18898	single nucleotide variant	NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	ATP7B-related disorder [RCV003904803]\|Inborn genetic diseases [RCV002354147]\|Wilson disease [RCV000004063]\|not provided [RCV000595271]	pathogenic\|conflicting interpretations of pathogenicity	13	51937570	51937570	Human	2	alternate_id
8557728	CV18899	single nucleotide variant	NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	ATP7B-related disorder [RCV003904804]\|Wilson disease [RCV000004064]\|not provided [RCV000270891]	pathogenic	13	51946438	51946438	Human	1	alternate_id
8557730	CV18901	single nucleotide variant	NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	ATP7B-related disorder [RCV003398442]\|Inborn genetic diseases [RCV002408449]\|Wilson disease [RCV000004066]\|not provided [RCV001508347]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51961849	51961849	Human	2	alternate_id
10047747	CV191132	single nucleotide variant	NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)	ATP7B-related disorder [RCV003955024]\|Wilson disease [RCV001081569]\|not provided [RCV000587605]\|not specified [RCV000174213]	benign\|likely benign\|conflicting interpretations of pathogenicity	13	51949742	51949742	Human	1	alternate_id
156419015	CV1929204	single nucleotide variant	NM_000053.4(ATP7B):c.106A>T (p.Ser36Cys)	ATP7B-related disorder [RCV003395614]\|Wilson disease [RCV002612228]	uncertain significance	13	51975114	51975114	Human	1	alternate_id
11637556	CV270120	single nucleotide variant	NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)	ATP7B-related disorder [RCV003947909]\|Inborn genetic diseases [RCV002436109]\|Wilson disease [RCV001080148]\|not provided [RCV000725741]\|not specified [RCV002509346]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51946389	51946389	Human	2	alternate_id
401905871	CV2798057	single nucleotide variant	NM_000053.4(ATP7B):c.2139C>G (p.Tyr713Ter)	ATP7B-related disorder [RCV003420891]	pathogenic	13	51958527	51958527	Human		trait , alternate_id
405281512	CV3191834	single nucleotide variant	NM_000053.4(ATP7B):c.4003G>A (p.Gly1335Arg)	ATP7B-related disorder [RCV003907341]	uncertain significance	13	51937294	51937294	Human		trait , alternate_id
405274918	CV3192645	single nucleotide variant	NC_000013.11:g.52011556C>T	ATP7B-related disorder [RCV003931857]	likely benign	13	52011556	52011556	Human		trait , alternate_id
11604354	CV319974	single nucleotide variant	NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	ATP7B-related disorder [RCV004751452]\|Wilson disease [RCV000308454]\|not provided [RCV003223635]	pathogenic\|likely pathogenic	13	51944231	51944231	Human	1	alternate_id
11598912	CV319978	single nucleotide variant	NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)	ATP7B-related disorder [RCV003422258]\|Wilson disease [RCV000261389]\|not provided [RCV000859330]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51950303	51950303	Human	1	alternate_id
405283255	CV3217065	single nucleotide variant	NM_000053.4(ATP7B):c.3824T>C (p.Leu1275Ser)	ATP7B-related disorder [RCV003979194]	uncertain significance	13	51937555	51937555	Human		trait , alternate_id
405262296	CV3217671	single nucleotide variant	NM_000053.4(ATP7B):c.3846G>C (p.Val1282=)	ATP7B-related disorder [RCV003967252]	likely benign	13	51937533	51937533	Human		trait , alternate_id
405278741	CV3219333	single nucleotide variant	NC_000013.11:g.52011554T>C	ATP7B-related disorder [RCV003969586]	likely benign	13	52011554	52011554	Human		trait , alternate_id
405740264	CV3229208	single nucleotide variant	NM_000053.4(ATP7B):c.3833C>G (p.Ala1278Gly)	ATP7B-related disorder [RCV004731586]\|Wilson disease [RCV004014951]	uncertain significance	13	51937546	51937546	Human	1	alternate_id
11613729	CV328530	single nucleotide variant	NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)	ATP7B-related disorder [RCV003930333]\|Wilson disease [RCV000271169]\|not provided [RCV001711923]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51937494	51937494	Human	1	alternate_id
11614497	CV328544	single nucleotide variant	NM_000053.4(ATP7B):c.1122C>G (p.Val374=)	ATP7B-related disorder [RCV003930334]\|Inborn genetic diseases [RCV004678673]\|Wilson disease [RCV000277263]\|not provided [RCV004719091]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51974098	51974098	Human	2	alternate_id
11619941	CV335032	single nucleotide variant	NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	ATP7B-related disorder [RCV004751451]\|Inborn genetic diseases [RCV002522293]\|Wilson disease [RCV000331049]\|not provided [RCV000757022]\|not specified [RCV000455157]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51939062	51939062	Human	2	alternate_id
11622665	CV336892	single nucleotide variant	NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)	ATP7B-related disorder [RCV004751453]\|Wilson disease [RCV000363247]\|not provided [RCV004597776]\|not specified [RCV000605266]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51944247	51944247	Human	1	alternate_id
11624648	CV336898	single nucleotide variant	NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	ATP7B-related disorder [RCV004751454]\|Wilson disease [RCV000388607]\|not provided [RCV000999521]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51949772	51949772	Human	1	alternate_id
408385172	CV3505838	duplication	NM_000053.4(ATP7B):c.2858dup (p.Tyr953Ter)	ATP7B-related disorder [RCV004732454]	likely pathogenic	13	51949668	51949669	Human		trait , alternate_id
408384943	CV3506448	single nucleotide variant	NM_000053.4(ATP7B):c.2395C>T (p.Gln799Ter)	ATP7B-related disorder [RCV004732198]\|Wilson disease [RCV005103647]	pathogenic	13	51957568	51957568	Human	1	alternate_id
12844894	CV372863	single nucleotide variant	NM_000053.4(ATP7B):c.1839C>T (p.Ile613=)	ATP7B-related disorder [RCV003899898]\|Inborn genetic diseases [RCV002411412]\|Wilson disease [RCV000922243]\|not specified [RCV000438817]	likely benign\|uncertain significance	13	51964902	51964902	Human	2	alternate_id
12839394	CV375694	single nucleotide variant	NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	ATP7B-related disorder [RCV003932647]\|Inborn genetic diseases [RCV002451013]\|Wilson disease [RCV001081467]\|not provided [RCV000590019]\|not specified [RCV000428724]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51942393	51942393	Human	2	alternate_id
12836057	CV375697	single nucleotide variant	NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)	ATP7B-related disorder [RCV003932639]\|Inborn genetic diseases [RCV002402169]\|Wilson disease [RCV001079657]\|not provided [RCV000587027]\|not specified [RCV000422745]	benign\|likely benign	13	51965013	51965013	Human	2	alternate_id
12893430	CV409038	deletion	NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)	ATP7B-related disorder [RCV003392307]\|Wilson disease [RCV000576360]\|not provided [RCV000478984]\|not specified [RCV001175369]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	52011318	52011319	Human	1	alternate_id
13211344	CV426047	single nucleotide variant	NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	ATP7B-related disorder [RCV003925432]\|Inborn genetic diseases [RCV004023329]\|Wilson disease [RCV001239682]\|not provided [RCV000755833]\|not specified [RCV001532891]	conflicting interpretations of pathogenicity\|uncertain significance	13	51974873	51974873	Human	2	alternate_id
8569230	CV44367	single nucleotide variant	NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	ATP7B-related disorder [RCV003934854]\|Inborn genetic diseases [RCV002390119]\|Wilson disease [RCV000029352]\|not provided [RCV000514302]\|not specified [RCV000374856]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters\|not provided	13	51968544	51968544	Human	2	alternate_id
8569237	CV44374	single nucleotide variant	NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)	ATP7B-related disorder [RCV003924861]\|Hearing loss, autosomal recessive 109 [RCV005411298]\|Inborn genetic diseases [RCV002433469]\|Wilson disease [RCV000029359]\|not provided [RCV000790662]	pathogenic	13	51946414	51946414	Human	3	alternate_id
8569238	CV44375	single nucleotide variant	NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)	ATP7B-related disorder [RCV003407364]\|Inborn genetic diseases [RCV002433470]\|Wilson disease [RCV000029360]\|not provided [RCV000726685]\|not specified [RCV005406760]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51946391	51946391	Human	2	alternate_id
8569239	CV44376	single nucleotide variant	NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	ATP7B-related disorder [RCV003904863]\|Inborn genetic diseases [RCV002513236]\|Wilson disease [RCV000029361]\|not provided [RCV000255583]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51946372	51946372	Human	2	alternate_id
8569255	CV44392	single nucleotide variant	NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	ATP7B-related disorder [RCV004751225]\|Inborn genetic diseases [RCV002371783]\|Wilson disease [RCV000029377]\|not provided [RCV000494120]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	13	51937342	51937342	Human	2	alternate_id
13464700	CV463941	duplication	NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	ATP7B-related disorder [RCV003905331]\|Inborn genetic diseases [RCV000623842]\|Wilson disease [RCV000543563]\|not provided [RCV001200388]	pathogenic	13	51958361	51958362	Human	2	alternate_id
13520153	CV487715	single nucleotide variant	NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)	ATP7B-related disorder [RCV003905504]\|Inborn genetic diseases [RCV002530885]\|Wilson disease [RCV001001851]\|not provided [RCV000587250]\|not specified [RCV001003423]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51960276	51960276	Human	2	alternate_id
13527086	CV504287	single nucleotide variant	NM_000053.4(ATP7B):c.1428A>G (p.Ala476=)	ATP7B-related disorder [RCV003927994]\|Wilson disease [RCV001490657]\|not provided [RCV003392449]\|not specified [RCV000604995]	likely benign	13	51970607	51970607	Human	1	alternate_id
13539043	CV505197	single nucleotide variant	NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)	ATP7B-related disorder [RCV003962765]\|Inborn genetic diseases [RCV002456342]\|Wilson disease [RCV000886974]\|not provided [RCV001697571]	likely benign	13	51939126	51939126	Human	2	alternate_id
13786166	CV547030	single nucleotide variant	NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)	ATP7B-related disorder [RCV003420191]\|Wilson disease [RCV000672631]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	13	51946405	51946405	Human	1	alternate_id
13789138	CV547360	single nucleotide variant	NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)	ATP7B-related disorder [RCV003907929]\|Wilson disease [RCV000665805]\|not provided [RCV003992365]	pathogenic	13	51958333	51958333	Human	1	alternate_id
14689407	CV621462	single nucleotide variant	NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=)	ATP7B-related disorder [RCV004751701]\|Wilson disease [RCV000871679]\|not specified [RCV000779808]	likely benign\|uncertain significance	13	51949668	51949668	Human	1	alternate_id
14738449	CV642048	single nucleotide variant	NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)	ATP7B-related disorder [RCV003928277]\|Wilson disease [RCV000804503]\|not provided [RCV001508351]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51974022	51974022	Human	1	alternate_id
15138878	CV688178	single nucleotide variant	NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)	ATP7B-related disorder [RCV003892806]\|Inborn genetic diseases [RCV004027634]\|Wilson disease [RCV000864911]\|not provided [RCV003326498]	likely benign	13	51950133	51950133	Human	2	alternate_id
15186584	CV725511	single nucleotide variant	NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp)	ATP7B-related disorder [RCV003968062]\|Wilson disease [RCV000887015]\|not provided [RCV001585856]	likely benign	13	51974778	51974778	Human	1	alternate_id
15125357	CV769603	single nucleotide variant	NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)	ATP7B-related disorder [RCV003960543]\|Wilson disease [RCV000941191]\|not provided [RCV002292595]	likely benign	13	51968465	51968465	Human	1	alternate_id
15187716	CV769606	single nucleotide variant	NM_000053.4(ATP7B):c.1173G>A (p.Ser391=)	ATP7B-related disorder [RCV003983281]\|Wilson disease [RCV000931741]	likely benign	13	51974047	51974047	Human	1	alternate_id
26890845	CV841000	single nucleotide variant	NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile)	ATP7B-related disorder [RCV003898074]\|Wilson disease [RCV001068015]	uncertain significance	13	51974116	51974116	Human	1	alternate_id
26889999	CV841001	single nucleotide variant	NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)	ATP7B-related disorder [RCV004751872]\|See cases [RCV002252312]\|Wilson disease [RCV001067666]\|not provided [RCV005250133]	uncertain significance	13	51974171	51974171	Human	1	alternate_id
28911306	CV871440	single nucleotide variant	NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)	ATP7B-related disorder [RCV003938458]\|Inborn genetic diseases [RCV004032153]\|Wilson disease [RCV001110330]\|not provided [RCV004693663]\|not specified [RCV002282457]	uncertain significance	13	51942466	51942466	Human	2	alternate_id
34891210	CV906030	single nucleotide variant	NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)	ATP7B-related disorder [RCV004751900]\|Inborn genetic diseases [RCV002327425]\|Wilson disease [RCV001828588]\|not provided [RCV004720077]\|not specified [RCV001174860]	likely benign\|uncertain significance	13	51974052	51974052	Human	2	alternate_id
38472461	CV936479	single nucleotide variant	NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)	ATP7B-related disorder [RCV004731102]\|Wilson disease [RCV001214086]\|not specified [RCV002241208]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	51944243	51944243	Human	1	alternate_id
38497106	CV957125	single nucleotide variant	NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr)	ATP7B-related disorder [RCV004751936]\|Wilson disease [RCV001242976]	uncertain significance	13	51964879	51964879	Human	1	alternate_id
8639316	CV98301	single nucleotide variant	NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)	ATP7B-related disorder [RCV003935015]\|Wilson disease [RCV001001253]\|not provided [RCV000436240]\|not specified [RCV005237518]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	51974592	51974592	Human	1	alternate_id
15130936	CV776231	insertion	NM_000053.4(ATP7B):c.3412+9_3412+10insCA	Wilson disease [RCV001439532]	likely benign	13	51942376	51942377	Human	1	name
150466934	CV1207011	deletion	NM_000053.4(ATP7B):c.1544-263_1544-257del	not provided [RCV001587803]	likely benign	13	51968864	51968870	Human		name
150438577	CV1247191	deletion	NM_000053.4(ATP7B):c.4021+135_4021+136del	not provided [RCV001665960]	benign	13	51937140	51937141	Human		name
14741370	CV666327	deletion	NM_000053.4(ATP7B):c.3243+173_3243+175del	not provided [RCV000840757]	benign	13	51943934	51943936	Human		name
21406042	CV799750	insertion	NM_001243182.1(ATP7B):c.-120_-119insCGCCG	Wilson disease [RCV001001815]	benign	13	52011456	52011457	Human		name
405049459	CV2979642	insertion	NM_000053.4(ATP7B):c.2576-13_2576-12insGGTG	Wilson disease [RCV003610404]	likely benign	13	51950173	51950174	Human	1	name
597902654	CV3800199	indel	NM_000053.4(ATP7B):c.1286-191_1365delinsGAA	Wilson disease [RCV005127371]	likely pathogenic	13	51970670	51970940	Human		name
14741372	CV667184	insertion	NM_000053.4(ATP7B):c.3243+183_3243+184insGCC	not provided [RCV000840758]	benign	13	51943925	51943926	Human		name

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