Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	SNV Germline	Chr13:51944145	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220309	rs_76151636	39 SubmittersRCV000004052 RCV000078049 RCV002321470
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	SNV Germline	Chr13:51937583	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252890	rs_121907992	18 SubmittersRCV000004053 RCV001507825
NM_000053.4(ATP7B):c.1708-1G>C	SNV Germline	Chr13:51965034	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252891	rs_137853280	13 SubmittersRCV000004054 RCV001579816
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	SNV Germline	Chr13:51950116	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252892	rs_121907994	19 SubmittersRCV000004055 RCV001091639
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	SNV Germline	Chr13:51958333	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340126	rs_28942074	21 SubmittersRCV000004056 RCV000389880 RCV002444420 RCV003398441
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	SNV Germline	Chr13:51958373	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA252893	rs_28942075	9 SubmittersRCV000004059
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	SNV Germline	Chr13:51949700	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252894	rs_28942076	11 SubmittersRCV000004060 RCV001091638
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)	SNV Germline	Chr13:51949772	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252895	rs_121907993	9 SubmittersRCV000004061 RCV001818123
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	SNV Germline	Chr13:51937570	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA252896	rs_121907990	21 SubmittersRCV000004063 RCV000595271 RCV002354147 RCV003904803
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	SNV Germline	Chr13:51946438	Pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252897	rs_121907996	17 SubmittersRCV000004064 RCV000270891 RCV003904804
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)	SNV Germline	Chr13:51958369	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA252898	rs_121907997	4 SubmittersRCV000004065
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	SNV Germline	Chr13:51961849	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252899	rs_121907998	22 SubmittersRCV000004066 RCV001508347 RCV002408449 RCV003398442
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	SNV Germline	Chr13:51941194	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA259856	rs_60431989	16 SubmittersRCV000023582 RCV000727509 RCV002453275
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)	SNV Germline	Chr13:51974355	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252900	rs_121907999	14 SubmittersRCV000004068 RCV000421016
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)	SNV Germline	Chr13:51958543	Pathogenic	Wilson disease not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252902	rs_121908000	14 SubmittersRCV000004069 RCV000507833 RCV000597397
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)	SNV Germline	Chr13:51960198	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA252903	rs_121908001	8 SubmittersRCV000004070
NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg)	SNV Germline	Chr13:51941111	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_137853279	1 SubmittersRCV001852911
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	SNV Germline	Chr13:51968544	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA260129	rs_138427376	17 SubmittersRCV000029352 RCV000374856 RCV000514302 RCV002390119 RCV003934854
NM_000053.4(ATP7B):c.2122-8T>G	SNV Germline	Chr13:51958552	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA260131	rs_193922102	9 SubmittersRCV000029354 RCV001508345 RCV003398570
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)	SNV Germline	Chr13:51958361	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA171300	rs_193922103	18 SubmittersRCV000029355 RCV000078041 RCV002444440
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)	SNV Germline	Chr13:51946414	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220308	rs_72552255	18 SubmittersRCV000029359 RCV000790662 RCV002433469 RCV003924861
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)	SNV Germline	Chr13:51946391	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA260132	rs_193922104	9 SubmittersRCV000029360 RCV000726685 RCV002433470 RCV003407364
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	SNV Germline	Chr13:51946372	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified ATP7B-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA090896	rs_41292782	18 SubmittersRCV000029361 RCV000255583 RCV000505878 RCV003904863 RCV002513236
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	SNV Germline	Chr13:51946299	Conflicting classifications of pathogenicity	Wilson disease not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA171306	rs_1801248	21 SubmittersRCV000029365 RCV000145268 RCV002444441
NM_000053.4(ATP7B):c.3557-6C>T	SNV Germline	Chr13:51939199	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA260142	rs_140708492	14 SubmittersRCV000029371 RCV000248416 RCV000488125
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)	SNV Germline	Chr13:51939162	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA260143	rs_11840224	10 SubmittersRCV000029372 RCV000439420 RCV001579583
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	SNV Germline	Chr13:51939091	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260145	rs_193922107	9 SubmittersRCV000029374 RCV000413521
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	SNV Germline	Chr13:51937342	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA260148	rs_193922109	19 SubmittersRCV000029377 RCV000494120 RCV002371783
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	SNV Germline	Chr13:51935659	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260150	rs_193922110	11 SubmittersRCV000029378 RCV000415977
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	SNV Germline	Chr13:51934853	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA260152	rs_60986317	19 SubmittersRCV000029379 RCV000224611 RCV000251030
NM_000053.4(ATP7B):c.*16G>A	SNV Germline	Chr13:51934740	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA260156	rs_193922100	4 SubmittersRCV000029383 RCV000865113 RCV001420713
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)	SNV Germline	Chr13:51968530	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA220306	rs_187046823	11 SubmittersRCV000670794 RCV000487499 RCV004017388
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)	SNV Germline	Chr13:51958356	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA145672	rs_398123136	11 SubmittersRCV000078042 RCV000631249 RCV001310698 RCV003162506
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)	SNV Germline	Chr13:51942429	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA145683	rs_61733679	10 SubmittersRCV000078050 RCV000302449 RCV000588949 RCV002453394
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)	SNV Germline	Chr13:51937490	Conflicting classifications of pathogenicity	not specified Wilson disease Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA145689	rs_148399850	15 SubmittersRCV000078053 RCV000490530 RCV002354273 RCV003333954
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)	SNV Germline	Chr13:51974592	Conflicting classifications of pathogenicity	Condition: not provided ATP7B-related disorder Wilson disease	Criteria Provided Conflicting Classifications	CA220311	rs_61733680	9 SubmittersRCV000436240 RCV003935015 RCV001001253
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)	SNV Germline	Chr13:51974305	Pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA220313	rs_398123137	5 SubmittersRCV000175511 RCV001201260
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	SNV Germline	Chr13:51958538	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA270731	rs_137853285	14 SubmittersRCV000144365 RCV000497757
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	SNV Germline	Chr13:51958334	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA270733	rs_137853284	12 SubmittersRCV000144367 RCV001092072
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)	SNV Germline	Chr13:51958330	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA270734	rs_137853283	14 SubmittersRCV000144368 RCV000724020 RCV002453462
NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter)	SNV Germline	Chr13:51958329	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA270736	rs_137853282	4 SubmittersRCV000144369 RCV003480060
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	SNV Germline	Chr13:51975098	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA271166	rs_201738967	21 SubmittersRCV000145251 RCV000416017 RCV002514798
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	SNV Germline	Chr13:51961906	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA271167	rs_587783299	15 SubmittersRCV000145253 RCV000415842 RCV003162602
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)	SNV Germline	Chr13:51960300	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA271168	rs_372436901	4 SubmittersRCV000145255 RCV000590476
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	SNV Germline	Chr13:51960274	Conflicting classifications of pathogenicity	Wilson disease Epileptic encephalopathy Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA271169	rs_72552259	19 SubmittersRCV000145256 RCV000415012 RCV000498564 RCV000855573 RCV002415630
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)	SNV Germline	Chr13:51960267	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA271170	rs_587783301	6 SubmittersRCV000145257 RCV000427356 RCV002265624
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)	SNV Germline	Chr13:51958374	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA171298	rs_372979339	11 SubmittersRCV000145260 RCV000855544 RCV002225450 RCV003895023
NM_000053.4(ATP7B):c.2355+13T>G	SNV Germline	Chr13:51958298	Conflicting classifications of pathogenicity	not specified Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA171301	rs_139211339	14 SubmittersRCV000145262 RCV000586589 RCV000607602
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	SNV Germline	Chr13:51950132	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA271172	rs_191312027	27 SubmittersRCV000145263 RCV000413599 RCV000623574 RCV003415974
NM_000053.4(ATP7B):c.2865+1G>A	SNV Germline	Chr13:51949661	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA271173	rs_587783306	6 SubmittersRCV000145266
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro)	SNV Germline	Chr13:51946333	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA271174	rs_587783307	3 SubmittersRCV000145267
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)	SNV Germline	Chr13:51944164	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA171310	rs_587783309	8 SubmittersRCV000145270 RCV000675167 RCV001508710
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)	SNV Germline	Chr13:51942474	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA271175	rs_372456815	9 SubmittersRCV000145272 RCV001707533 RCV002321620
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)	SNV Germline	Chr13:51941139	Conflicting classifications of pathogenicity	not specified Wilson disease Inborn genetic diseases ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA171319	rs_587783314	7 SubmittersRCV000145276 RCV000350613 RCV002453467 RCV003895024
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)	SNV Germline	Chr13:51941089	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA171321	rs_587783315	6 SubmittersRCV000145277 RCV000667056 RCV001576695
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)	SNV Germline	Chr13:51937276	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA271177	rs_587783317	3 SubmittersRCV000145280
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	SNV Germline	Chr13:51935678	Conflicting classifications of pathogenicity	Wilson disease ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA271178	rs_587783318	10 SubmittersRCV000145281 RCV003895025
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	SNV Germline	Chr13:51935019	Conflicting classifications of pathogenicity	not specified Condition: not provided Wilson disease See cases Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA271180	rs_181250704	18 SubmittersRCV000309770 RCV000587055 RCV000763902 RCV002252001 RCV002326851
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	SNV Germline	Chr13:51937493	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA272855	rs_199821556	12 SubmittersRCV000148375 RCV001091634
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	SNV Germline	Chr13:51935629	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274112	rs_776848753	7 SubmittersRCV000169268 RCV003480071
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)	SNV Germline	Chr13:51935666	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274170	rs_786204578	12 SubmittersRCV000169321 RCV000726684
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	SNV Germline	Chr13:51937484	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA274423	rs_749472361	9 SubmittersRCV000169572
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	SNV Germline	Chr13:51937561	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274408	rs_758355520	11 SubmittersRCV000169558 RCV001310695
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	SNV Germline	Chr13:51939104	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274052	rs_776280797	10 SubmittersRCV000169211 RCV000725176
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)	SNV Germline	Chr13:51939152	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA274326	rs_786204658	3 SubmittersRCV000169453
NM_000053.4(ATP7B):c.3556+1G>A	SNV Germline	Chr13:51941080	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274325	rs_184388696	8 SubmittersRCV000169452 RCV003159558
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	SNV Germline	Chr13:51941081	Pathogenic/Likely pathogenic	Wilson disease Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274098	rs_786204547	12 SubmittersRCV000169260 RCV002453567 RCV002254281
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	SNV Germline	Chr13:51941120	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA274321	rs_756029120	10 SubmittersRCV000169445
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	SNV Germline	Chr13:51941186	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274020	rs_755554442	14 SubmittersRCV000169188 RCV001596981 RCV003422061
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	SNV Germline	Chr13:51942497	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA273987	rs_786204483	9 SubmittersRCV000169142
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	SNV Germline	Chr13:51942535	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274082	rs_753250853	13 SubmittersRCV000169240 RCV001557295 RCV003907530
NM_000053.4(ATP7B):c.3244-2A>G	SNV Germline	Chr13:51942556	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274176	rs_786204584	8 SubmittersRCV000169327 RCV003480072
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	SNV Germline	Chr13:51946291	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273886	rs_371840514	10 SubmittersRCV000169019 RCV001558241 RCV003390880
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	SNV Germline	Chr13:51946336	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA273949	rs_775055397	13 SubmittersRCV000169109 RCV001508716 RCV001814079
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	SNV Germline	Chr13:51946337	Pathogenic/Likely pathogenic	Wilson disease Epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273980	rs_201497300	12 SubmittersRCV000169133 RCV000415237 RCV003311702
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	SNV Germline	Chr13:51946369	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274013	rs_201038679	13 SubmittersRCV000169179 RCV000362786 RCV002433726
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	SNV Germline	Chr13:51949699	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274329	rs_779323689	8 SubmittersRCV000169455 RCV001531800
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	SNV Germline	Chr13:51949723	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273878	rs_750019452	13 SubmittersRCV000169002 RCV001509440
NM_000053.4(ATP7B):c.2731-2A>G	SNV Germline	Chr13:51949798	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273891	rs_367956522	17 SubmittersRCV000169025 RCV000485754 RCV002433725 RCV003927563
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)	SNV Germline	Chr13:51950069	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274401	rs_786204718	9 SubmittersRCV000169535 RCV000514615
NM_000053.4(ATP7B):c.2575+1G>C	SNV Germline	Chr13:51950271	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273907	rs_766149114	6 SubmittersRCV000169063 RCV001582664
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)	SNV Germline	Chr13:51950328	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274072	rs_768671894	10 SubmittersRCV000169233 RCV000333003
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	SNV Germline	Chr13:51957580	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA273992	rs_751710854	11 SubmittersRCV000169151
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)	SNV Germline	Chr13:51961859	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274388	rs_72552285	10 SubmittersRCV000169521 RCV001508348
NM_000053.4(ATP7B):c.1285+2T>A	SNV Germline	Chr13:51973933	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274399	rs_759749626	6 SubmittersRCV000169532 RCV003480073
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	SNV Germline	Chr13:51974407	Pathogenic	Wilson disease Condition: not provided Intellectual disability, Wolff type	Criteria Provided Multiple Submitters No Conflicts	CA274145	rs_572147914	18 SubmittersRCV000169298 RCV000724151 RCV001823123
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)	SNV Germline	Chr13:51974889	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA274096	rs_774221179	5 SubmittersRCV000169259
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)	SNV Germline	Chr13:51974906	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274484	rs_753236073	9 SubmittersRCV000169629 RCV000293037
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	SNV Germline	Chr13:51974966	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA274300	rs_786204643	4 SubmittersRCV000169428
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)	SNV Germline	Chr13:51949742	Conflicting classifications of pathogenicity	not specified Condition: not provided Wilson disease ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA200886	rs_534960245	9 SubmittersRCV000174213 RCV000587605 RCV001081569 RCV003955024
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)	SNV Germline	Chr13:51941132	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA277193	rs_749085322	5 SubmittersRCV000193725
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)	SNV Germline	Chr13:51944283	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205295	rs_187343742	11 SubmittersRCV000192460 RCV000948469 RCV001566425 RCV002444776
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)	SNV Germline	Chr13:51964969	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277133	rs_797045402	7 SubmittersRCV000193403 RCV002254284
NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter)	SNV Germline	Chr13:51958517	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388023272	rs_1085307057	5 SubmittersRCV000490452
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)	SNV Germline	Chr13:51942396	Conflicting classifications of pathogenicity	not specified Wilson disease Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6988719	rs_145887771	9 SubmittersRCV000251888 RCV001001299 RCV002450763 RCV003391012
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)	SNV Germline	Chr13:51946368	Conflicting classifications of pathogenicity	not specified Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6988851	rs_746358240	8 SubmittersRCV000242957 RCV000727508 RCV001111075
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)	SNV Germline	Chr13:51950363	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988992	rs_570594838	10 SubmittersRCV000245085 RCV000907046 RCV001699268
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)	SNV Germline	Chr13:51968531	Conflicting classifications of pathogenicity	not specified Condition: not provided Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989290	rs_145798966	17 SubmittersRCV000244316 RCV000590083 RCV001086715 RCV002401951
NM_000053.4(ATP7B):c.1543+14G>A	SNV Germline	Chr13:51970478	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications	CA6989327	rs_770362811	3 SubmittersRCV000252542 RCV000286518
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)	SNV Germline	Chr13:51970609	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989352	rs_139289704	7 SubmittersRCV000267893 RCV000631245 RCV001311346
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)	SNV Germline	Chr13:51950368	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease not specified	Criteria Provided Conflicting Classifications	CA6988994	rs_539585071	8 SubmittersRCV000327770 RCV001242406 RCV001582911
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)	SNV Germline	Chr13:51946389	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease Inborn genetic diseases ATP7B-related disorder not specified	Criteria Provided Conflicting Classifications	CA6988855	rs_116587608	14 SubmittersRCV000725741 RCV001080148 RCV002436109 RCV003947909 RCV002509346
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)	SNV Germline	Chr13:51937593	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6988568	rs_375007352	8 SubmittersRCV000276921 RCV001082927 RCV002348016
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	SNV Germline	Chr13:51941215	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6988687	rs_757549770	9 SubmittersRCV000372640 RCV000780935 RCV003151766
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	SNV Germline	Chr13:51944231	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988802	rs_746485916	11 SubmittersRCV000308454 RCV003223635
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)	SNV Germline	Chr13:51950303	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6988981	rs_200996053	12 SubmittersRCV000261389 RCV000859330 RCV003422258
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)	SNV Germline	Chr13:51973942	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989402	rs_143556945	16 SubmittersRCV000306439 RCV000873189 RCV000610248 RCV002446564
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)	SNV Germline	Chr13:51937494	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6988550	rs_200597654	7 SubmittersRCV000271169 RCV001711923 RCV003930333
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)	SNV Germline	Chr13:51944170	Pathogenic	not specified Wilson disease Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988785	rs_764131178	15 SubmittersRCV000506750 RCV000395391 RCV002321983 RCV001558379
NM_000053.4(ATP7B):c.1543+13C>T	SNV Germline	Chr13:51970479	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6989328	rs_200171850	5 SubmittersRCV000341242 RCV000415979 RCV000423547
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=)	SNV Germline	Chr13:51973990	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989410	rs_772843652	6 SubmittersRCV000396679 RCV001579443
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)	SNV Germline	Chr13:51974098	Conflicting classifications of pathogenicity	Wilson disease not specified ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6989439	rs_201254466	7 SubmittersRCV000277263 RCV000605593 RCV003930334
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)	SNV Germline	Chr13:51974480	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6989506	rs_376398239	6 SubmittersRCV000313711 RCV000425182 RCV001269200
NM_000053.4(ATP7B):c.51+4A>T	SNV Germline	Chr13:52011283	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6989708	rs_369488210	18 SubmittersRCV000324263 RCV001729524
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	SNV Germline	Chr13:51939062	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6988609	rs_200911496	16 SubmittersRCV000331049 RCV000455157 RCV000757022 RCV002522293
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	SNV Germline	Chr13:51942402	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6988720	rs_370947152	10 SubmittersRCV000395395 RCV001356076 RCV002469127 RCV002450860
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)	SNV Germline	Chr13:51974048	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989425	rs_750724856	5 SubmittersRCV000367067 RCV001575381
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)	SNV Germline	Chr13:51974544	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989517	rs_749626601	3 SubmittersRCV000354484
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)	SNV Germline	Chr13:51974550	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989518	rs_200563529	8 SubmittersRCV000259729 RCV000755836 RCV000779819 RCV002520888
NM_000053.4(ATP7B):c.*1385G>A	SNV Germline	Chr13:51933371	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA10644720	rs_41292780	2 SubmittersRCV000311850 RCV002262973
NM_000053.4(ATP7B):c.*148C>T	SNV Germline	Chr13:51934608	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA10644741	rs_111901413	2 SubmittersRCV000360445 RCV001576381
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)	SNV Germline	Chr13:51934969	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA10644746	rs_368801566	5 SubmittersRCV000270155 RCV002469126
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)	SNV Germline	Chr13:51942523	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6988748	rs_368545738	8 SubmittersRCV000343352 RCV002261043 RCV002282117
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)	SNV Germline	Chr13:51944247	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA6988808	rs_200324179	6 SubmittersRCV000363247 RCV000605266
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	SNV Germline	Chr13:51949772	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988915	rs_121907993	12 SubmittersRCV000388607 RCV000999521
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)	SNV Germline	Chr13:51935603	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6988488	rs_755584106	4 SubmittersRCV000411139
NM_000053.4(ATP7B):c.3904-2A>G	SNV Germline	Chr13:51937395	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041663	rs_1057517233	8 SubmittersRCV000411074 RCV001507824
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	SNV Germline	Chr13:51941108	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041665	rs_1057516479	7 SubmittersRCV000412086 RCV001531799
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)	SNV Germline	Chr13:51941211	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA6988685	rs_778749563	4 SubmittersRCV000409630 RCV002469139
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)	SNV Germline	Chr13:51942481	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988740	rs_775541743	4 SubmittersRCV000411980 RCV001508707
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)	SNV Germline	Chr13:51942503	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6988744	rs_761632029	8 SubmittersRCV000410034
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	SNV Germline	Chr13:51944161	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6988781	rs_374094065	17 SubmittersRCV000411652 RCV001091637 RCV002323574
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)	SNV Germline	Chr13:51944248	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16041666	rs_753594031	5 SubmittersRCV000410994
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)	SNV Germline	Chr13:51949710	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041667	rs_1057517310	6 SubmittersRCV000410917 RCV003480625
NM_000053.4(ATP7B):c.2730+1G>A	SNV Germline	Chr13:51950006	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16041669	rs_1057516425	5 SubmittersRCV000411590
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)	SNV Germline	Chr13:51958363	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16041671	rs_1057516844	5 SubmittersRCV000410970
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)	SNV Germline	Chr13:51958509	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16041672	rs_1057516380	3 SubmittersRCV000411738
NM_000053.4(ATP7B):c.1708-1G>A	SNV Germline	Chr13:51965034	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16041675	rs_137853280	3 SubmittersRCV000411333
NM_000053.4(ATP7B):c.1708-2A>G	SNV Germline	Chr13:51965035	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16041676	rs_1057517024	2 SubmittersRCV000409239
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)	SNV Germline	Chr13:51970565	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6989342	rs_778675259	5 SubmittersRCV000411554
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)	SNV Germline	Chr13:51970663	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16041678	rs_1057516305	2 SubmittersRCV000409337
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)	SNV Unknown	Chr13:51975117	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA16041683	rs_1057516516	1 SubmittersRCV000412018
NM_000053.4(ATP7B):c.52-1G>T	SNV Germline	Chr13:51975169	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA16041684	rs_1057517351	4 SubmittersRCV000411235
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)	SNV Unknown	Chr13:51946381	Likely pathogenic	Hand tremor Kayser-Fleischer ring Wilson disease	Criteria Provided Single Submitter	CA16043475	rs_1057518867	1 SubmittersRCV000415306 RCV001198322
NM_000053.4(ATP7B):c.3243+5G>A	SNV Germline	Chr13:51944104	Conflicting classifications of pathogenicity	Condition: not provided not specified Wilson disease	Criteria Provided Conflicting Classifications	CA6988773	rs_373193482	10 SubmittersRCV000441386 RCV002298584 RCV001785612
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)	SNV Germline	Chr13:51950277	Pathogenic/Likely pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16606473	rs_1057520235	4 SubmittersRCV000430661 RCV000667536
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)	SNV Germline	Chr13:51944192	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6988791	rs_377586515	7 SubmittersRCV000424597 RCV000959396 RCV003352863
NM_000053.4(ATP7B):c.-676A>G	SNV Germline	Chr13:52012013	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA16606745	rs_1021025464	6 SubmittersRCV000426325 RCV000626321
NM_000053.4(ATP7B):c.1947-4C>T	SNV Germline	Chr13:51960326	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989146	rs_74904335	6 SubmittersRCV000440735 RCV000631244 RCV001721333
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met)	SNV Germline	Chr13:51964981	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications	CA6989232	rs_757716093	3 SubmittersRCV000423231 RCV001861551
NM_000053.4(ATP7B):c.51+13C>T	SNV Germline	Chr13:52011274	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications	CA6989704	rs_770273498	3 SubmittersRCV000441986 RCV001113268
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	SNV Germline	Chr13:51942393	Conflicting classifications of pathogenicity	not specified Condition: not provided Wilson disease Inborn genetic diseases ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6988717	rs_373081328	11 SubmittersRCV000428724 RCV000590019 RCV001081467 RCV002451013 RCV003932647
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)	SNV Germline	Chr13:51946439	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6988868	rs_774028495	6 SubmittersRCV000434557 RCV000780936
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)	SNV Germline	Chr13:51961861	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases Wilson disease	Criteria Provided Conflicting Classifications	CA6989172	rs_186924074	12 SubmittersRCV000587060 RCV001263514 RCV002525825 RCV000631248
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe)	SNV Germline	Chr13:51944116	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16621524	rs_1064797072	2 SubmittersRCV000487452
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)	SNV Germline	Chr13:51937305	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA388020881	rs_1131691741	3 SubmittersRCV000494555 RCV000984147 RCV002527096
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	SNV Germline	Chr13:51942493	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988743	rs_560952220	13 SubmittersRCV000495835 RCV003480655
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	SNV Germline	Chr13:51974873	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease not specified ATP7B-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989581	rs_199773340	13 SubmittersRCV000755833 RCV001239682 RCV001532891 RCV003925432 RCV004023329
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn)	SNV Germline	Chr13:51974868	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989579	rs_769655497	6 SubmittersRCV000507116 RCV000945359 RCV003480658
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)	SNV Germline	Chr13:51934941	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease not specified	Criteria Provided Conflicting Classifications	CA6988455	rs_189601972	11 SubmittersRCV000513406 RCV000670982 RCV003488645
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)	SNV Germline	Chr13:51958334	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6989058	rs_137853284	15 SubmittersRCV000532036 RCV001091641 RCV002448619
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)	SNV Germline	Chr13:51958492	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989092	rs_115227204	4 SubmittersRCV000525049 RCV001509446
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)	SNV Germline	Chr13:51937663	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6988580	rs_374628199	7 SubmittersRCV000541103 RCV001507826 RCV002350175
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)	SNV Germline	Chr13:51942514	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388028728	rs_1555285891	4 SubmittersRCV000548917 RCV003480668
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val)	SNV Germline	Chr13:51935653	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA388020155	rs_1305262063	2 SubmittersRCV000590198 RCV003609157
NM_000053.4(ATP7B):c.3556+1G>T	SNV Germline	Chr13:51941080	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388025828	rs_184388696	4 SubmittersRCV000587514
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)	SNV Germline	Chr13:51941185	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6988682	rs_377297166	6 SubmittersRCV000586771 RCV000666672
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)	SNV Germline	Chr13:51958372	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388021872	rs_1555291147	5 SubmittersRCV000589178
NM_000053.4(ATP7B):c.2447+8A>G	SNV Germline	Chr13:51957508	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6989025	rs_747586752	3 SubmittersRCV000590003 RCV001273298
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)	SNV Germline	Chr13:51958535	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388023479	rs_1394999756	4 SubmittersRCV000586389 RCV003326468
NM_000053.4(ATP7B):c.1946+6T>C	SNV Germline	Chr13:51961831	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6989167	rs_751287778	7 SubmittersRCV000588787 RCV003480706
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)	SNV Germline	Chr13:51970744	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6989382	rs_145173864	4 SubmittersRCV000589895 RCV001459906
NM_000053.4(ATP7B):c.4022-19C>T	SNV Germline	Chr13:51935714	Conflicting classifications of pathogenicity	Condition: not provided not specified Wilson disease	Criteria Provided Conflicting Classifications	CA6988507	rs_369736734	3 SubmittersRCV000587905 RCV000606511 RCV002530886
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	SNV Germline	Chr13:51942482	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988741	rs_541208827	9 SubmittersRCV000674801 RCV002261126
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)	SNV Germline	Chr13:51960276	Conflicting classifications of pathogenicity	Condition: not provided not specified Wilson disease Inborn genetic diseases ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6989142	rs_146303208	15 SubmittersRCV000587250 RCV001003423 RCV001001851 RCV002530885 RCV003905504
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)	SNV Germline	Chr13:51974775	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989561	rs_200606656	7 SubmittersRCV000589823 RCV001111262 RCV002530887
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)	SNV Germline	Chr13:51942551	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388029024	rs_1286080173	7 SubmittersRCV000586978 RCV002223878
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)	SNV Germline	Chr13:51944131	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA388029823	rs_1206016866	5 SubmittersRCV000588068 RCV001829614
NM_000053.4(ATP7B):c.1708-5T>G	SNV Germline	Chr13:51965038	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6989243	rs_770829226	6 SubmittersRCV000589652
NM_000053.4(ATP7B):c.999G>T (p.Gly333=)	SNV Germline	Chr13:51974221	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6989456	rs_371930715	2 SubmittersRCV000596907 RCV004002461
NM_000053.4(ATP7B):c.2448-11G>A	SNV Germline	Chr13:51950410	Conflicting classifications of pathogenicity	not specified Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6989002	rs_200450017	3 SubmittersRCV000615865 RCV001722622 RCV002063022
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)	SNV Germline	Chr13:51974895	Conflicting classifications of pathogenicity	Wilson disease not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6989584	rs_751920801	8 SubmittersRCV000603728 RCV000612067 RCV002325149 RCV001726257
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)	SNV Germline	Chr13:51958476	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications	CA6989089	rs_550565277	4 SubmittersRCV000604203 RCV000925140
NM_000053.4(ATP7B):c.1285+5G>T	SNV Germline	Chr13:51973930	Pathogenic/Likely pathogenic	Inborn genetic diseases Condition: not provided Wilson disease ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6989401	rs_370579582	15 SubmittersRCV000624233 RCV000996144 RCV001004593 RCV003980208
NM_000053.4(ATP7B):c.4021+3A>G	SNV Germline	Chr13:51937273	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988518	rs_565970531	3 SubmittersRCV000631252 RCV001597189
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)	SNV Germline	Chr13:51961859	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388027513	rs_72552285	5 SubmittersRCV000631234
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)	SNV Germline	Chr13:51935654	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1555282751	4 SubmittersRCV000670965
NM_000053.4(ATP7B):c.4022-2A>C	SNV Germline	Chr13:51935697	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555282816	2 SubmittersRCV000669218
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)	SNV Germline	Chr13:51937502	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_776300396	8 SubmittersRCV000669064 RCV001531798
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)	SNV Germline	Chr13:51937516	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_373748155	3 SubmittersRCV000672804
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)	SNV Germline	Chr13:51937537	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_755202606	4 SubmittersRCV000665012 RCV001310694
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)	SNV Germline	Chr13:51937543	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_778914828	4 SubmittersRCV000668962
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)	SNV Germline	Chr13:51937612	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1555283946	2 SubmittersRCV000673283
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)	SNV Germline	Chr13:51937657	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555283994	2 SubmittersRCV000668265
NM_000053.4(ATP7B):c.3700-1G>A	SNV Germline	Chr13:51937680	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555284021	3 SubmittersRCV000664525
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	SNV Germline	Chr13:51939056	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_568009639	6 SubmittersRCV000670901
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)	SNV Unknown	Chr13:51941131	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1555285311	1 SubmittersRCV000673614
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)	SNV Germline	Chr13:51942526	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_778825095	6 SubmittersRCV000668718 RCV000757021 RCV000779813 RCV002531207
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)	SNV Germline	Chr13:51942532	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1555285911	2 SubmittersRCV000669922
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)	SNV Germline	Chr13:51944149	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1555286478	5 SubmittersRCV000665474 RCV001508708
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)	SNV Germline	Chr13:51946366	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200290721	11 SubmittersRCV000670460 RCV001310697 RCV002469248 RCV004026114
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)	SNV Germline	Chr13:51946405	Conflicting classifications of pathogenicity	Wilson disease ATP7B-related disorder	Criteria Provided Conflicting Classifications		rs_1038582488	7 SubmittersRCV000672631 RCV003420191
NM_000053.4(ATP7B):c.2356-1G>A	SNV Germline	Chr13:51957608	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555290925	2 SubmittersRCV000674374
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)	SNV Germline	Chr13:51958331	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_751798708	5 SubmittersRCV000673490 RCV001091640
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)	SNV Germline	Chr13:51958537	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555291285	5 SubmittersRCV000666574
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)	SNV Germline	Chr13:51960269	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1474837260	2 SubmittersRCV000672351
NM_000053.4(ATP7B):c.1544-2A>C	SNV Unknown	Chr13:51968609	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1555294398	1 SubmittersRCV000669421
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	SNV Germline	Chr13:51937595	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_769484789	7 SubmittersRCV000665788
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	SNV Germline	Chr13:51939088	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1486594906	4 SubmittersRCV000667577
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)	SNV Unknown	Chr13:51939112	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1555284582	2 SubmittersRCV000664605
NM_000053.4(ATP7B):c.3243+1G>A	SNV Germline	Chr13:51944108	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_748819198	5 SubmittersRCV000674164 RCV003480757
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg)	SNV Unknown	Chr13:51944278	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1555286633	1 SubmittersRCV000668464
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	SNV Germline	Chr13:51946382	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_199623434	4 SubmittersRCV000672021
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)	SNV Germline	Chr13:51949775	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_540935874	5 SubmittersRCV000667455
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)	SNV Germline	Chr13:51950298	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_777629392	6 SubmittersRCV000670079 RCV001509442
NM_000053.4(ATP7B):c.2356-1G>C	SNV Germline	Chr13:51957608	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555290925	2 SubmittersRCV000665943
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter)	SNV Germline	Chr13:51958521	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_751202110	3 SubmittersRCV000670942
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)	SNV Germline	Chr13:51960197	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555291801	6 SubmittersRCV000671031
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)	SNV Germline	Chr13:51974379	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555296356	3 SubmittersRCV000672954 RCV003222092
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)	SNV Germline	Chr13:51974658	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1412593296	6 SubmittersRCV000667618 RCV003324784
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	SNV Germline	Chr13:51937561	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_758355520	4 SubmittersRCV000668789
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)	SNV Germline	Chr13:51944197	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_778543794	4 SubmittersRCV000671512
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)	SNV Germline	Chr13:51946346	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_751078884	8 SubmittersRCV000673544 RCV003319396
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)	SNV Germline	Chr13:51946360	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications		rs_777791532	3 SubmittersRCV000672990 RCV003489792
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter)	SNV Unknown	Chr13:51949784	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1555288479	1 SubmittersRCV000671014
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)	SNV Unknown	Chr13:51950117	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_376355660	1 SubmittersRCV000674734
NM_000053.4(ATP7B):c.2575+5G>C	SNV Germline	Chr13:51950267	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_551030054	2 SubmittersRCV000672253
NM_000053.4(ATP7B):c.2575+1G>A	SNV Germline	Chr13:51950271	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_766149114	3 SubmittersRCV000673153
NM_000053.4(ATP7B):c.2447+2T>G	SNV Unknown	Chr13:51957514	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1555290800	1 SubmittersRCV000674966
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)	SNV Germline	Chr13:51957535	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_770020484	3 SubmittersRCV000670601
NM_000053.4(ATP7B):c.2355+4A>G	SNV Germline	Chr13:51958307	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_776572343	5 SubmittersRCV000666959 RCV002442394
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)	SNV Germline	Chr13:51958333	Pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_28942074	10 SubmittersRCV000665805 RCV003992365 RCV003907929
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)	SNV Germline	Chr13:51958399	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_769927137	3 SubmittersRCV000670761
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu)	SNV Germline	Chr13:51960200	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications		rs_1555291809	4 SubmittersRCV000671983 RCV002469250
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)	SNV Germline	Chr13:51968512	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_996419100	2 SubmittersRCV000665586
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)	SNV Germline	Chr13:51968535	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications		rs_572122562	3 SubmittersRCV000671716 RCV002282316
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter)	SNV Unknown	Chr13:51968583	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_773385516	1 SubmittersRCV000665465
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr13:51974157	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_778490238	6 SubmittersRCV000673196 RCV003106017
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)	SNV Germline	Chr13:51974226	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_761084829	8 SubmittersRCV000668824
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)	SNV Germline	Chr13:51974632	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_756718353	4 SubmittersRCV000670652
NM_000053.4(ATP7B):c.4125-2A>G	SNV Germline	Chr13:51935031	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1555282347	3 SubmittersRCV000668311
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)	SNV Germline	Chr13:51935599	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_780811477	2 SubmittersRCV000668116
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)	SNV Unknown	Chr13:51935611	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1555282678	2 SubmittersRCV000672293
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)	SNV Unknown	Chr13:51937579	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555283916	2 SubmittersRCV000667671
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	SNV Germline	Chr13:51937638	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_767464491	7 SubmittersRCV000664771
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)	SNV Germline	Chr13:51941201	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1213481140	2 SubmittersRCV000668453
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)	SNV Germline	Chr13:51944162	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_376910645	6 SubmittersRCV000665883 RCV001508709
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	SNV Germline	Chr13:51944224	Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1412025509	5 SubmittersRCV000665305 RCV003480751
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)	SNV Germline	Chr13:51944266	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555286628	3 SubmittersRCV000672441
NM_000053.4(ATP7B):c.3061-12T>A	SNV Germline	Chr13:51944303	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1045194246	6 SubmittersRCV000673212
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)	SNV Germline	Chr13:51949700	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_28942076	2 SubmittersRCV000674965
NM_000053.4(ATP7B):c.2576-2A>G	SNV Germline	Chr13:51950163	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_757265256	2 SubmittersRCV000667057
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)	SNV Germline	Chr13:51958387	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_766907687	3 SubmittersRCV000667611
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)	SNV Germline	Chr13:51958535	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1394999756	7 SubmittersRCV000671462 RCV001509447
NM_000053.4(ATP7B):c.2122-1G>A	SNV Germline	Chr13:51958545	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1319653818	4 SubmittersRCV000666348
NM_000053.4(ATP7B):c.2121+3A>G	SNV Germline	Chr13:51960145	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1248002612	6 SubmittersRCV000667868
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)	SNV Germline	Chr13:51960191	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1212479289	4 SubmittersRCV000666566
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)	SNV Germline	Chr13:51960231	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555291848	2 SubmittersRCV000673015
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)	SNV Germline	Chr13:51964894	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_752850609	14 SubmittersRCV000667901 RCV001531802
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)	SNV Unknown	Chr13:51974570	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1555296472	1 SubmittersRCV000664948
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)	SNV Germline	Chr13:52011335	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_750530407	3 SubmittersRCV000668127
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly)	SNV Germline	Chr13:51950361	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1566503575	1 SubmittersRCV000707143
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)	SNV Germline	Chr13:51937383	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_377144951	4 SubmittersRCV000707116
NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val)	SNV Germline	Chr13:51958315	Pathogenic	Wilson disease	No Assertion Criteria Provided		rs_1566532164	1 SubmittersRCV000721965
NM_000053.4(ATP7B):c.1543+1G>T	SNV Germline	Chr13:51970491	Pathogenic	Wilson disease Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1360279134	9 SubmittersRCV000721966 RCV002397500 RCV003411660
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser)	SNV Germline	Chr13:51968457	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_778475094	2 SubmittersRCV000755712
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser)	SNV Germline	Chr13:51970560	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1566580253	1 SubmittersRCV000755711
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys)	SNV Germline	Chr13:51968556	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_375071383	2 SubmittersRCV000755835 RCV002533779
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)	SNV Germline	Chr13:51974724	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_755476114	5 SubmittersRCV000755839 RCV001275298
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)	SNV Germline	Chr13:51974994	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200642204	7 SubmittersRCV000757023 RCV001034284 RCV002233752 RCV002533126
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)	SNV Germline	Chr13:51941191	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1566462533	9 SubmittersRCV000761257 RCV002286787
NM_000053.4(ATP7B):c.2866-2A>G	SNV Germline	Chr13:51946480	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1377418826	3 SubmittersRCV000761418
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)	SNV Germline	Chr13:51934903	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications		rs_546721020	6 SubmittersRCV000780931 RCV000943904
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)	SNV Germline	Chr13:51949732	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1566498495	8 SubmittersRCV000780939
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	SNV Germline	Chr13:51958369	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_121907997	9 SubmittersRCV000780926 RCV002223938
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr)	SNV Germline	Chr13:51960191	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications		rs_1212479289	2 SubmittersRCV000779811 RCV002535662
NM_000053.4(ATP7B):c.1965G>T (p.Leu655=)	SNV Germline	Chr13:51960304	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications		rs_574041847	2 SubmittersRCV000780928 RCV001413641
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)	SNV Germline	Chr13:51970504	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1449610384	7 SubmittersRCV000780933
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)	SNV Germline	Chr13:51974062	Conflicting classifications of pathogenicity	not specified Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_778775834	8 SubmittersRCV000779810 RCV001114540 RCV003326513
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)	SNV Germline	Chr13:51974250	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_911589273	4 SubmittersRCV000780927
NM_000053.4(ATP7B):c.1869+20A>G	SNV Germline	Chr13:51964852	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications		rs_566255910	2 SubmittersRCV000780934 RCV002067374
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)	SNV Germline	Chr13:51934939	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_767721448	5 SubmittersRCV000810166 RCV001731938
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)	SNV Germline	Chr13:51935695	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_779494870	6 SubmittersRCV000824312 RCV003480876
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)	SNV Germline	Chr13:51937495	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1340942427	4 SubmittersRCV000817111
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)	SNV Germline	Chr13:51944213	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_1441316018	3 SubmittersRCV000811070 RCV003155318 RCV003480854
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)	SNV Germline	Chr13:51944273	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1593672840	2 SubmittersRCV000817129
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)	SNV Germline	Chr13:51950075	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1455758826	4 SubmittersRCV000796453
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)	SNV Germline	Chr13:51958366	Pathogenic/Likely pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_776668666	5 SubmittersRCV002223947 RCV000806274
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)	SNV Germline	Chr13:51974022	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease ATP7B-related disorder	Criteria Provided Conflicting Classifications		rs_199807461	7 SubmittersRCV001508351 RCV000804503 RCV003928277
NM_000053.4(ATP7B):c.3243+2T>C	SNV Germline	Chr13:51944107	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1593671769	3 SubmittersRCV000816422
NM_000053.4(ATP7B):c.2122-3C>T	SNV Germline	Chr13:51958547	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications		rs_1593726901	3 SubmittersRCV000797318 RCV001193093
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)	SNV Germline	Chr13:51946350	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_373102009	5 SubmittersRCV000886986 RCV001111074
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)	SNV Germline	Chr13:51939126	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_377267217	5 SubmittersRCV000921851 RCV001088741
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)	SNV Germline	Chr13:51939168	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_761183334	4 SubmittersRCV000920076
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)	SNV Germline	Chr13:51958380	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_750477816	4 SubmittersRCV001110416
NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=)	SNV Germline	Chr13:51937491	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_772616533	2 SubmittersRCV001414948
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)	SNV Germline	Chr13:51957527	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_533967323	5 SubmittersRCV000936710
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)	SNV Germline	Chr13:51958521	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_751202110	5 SubmittersRCV001172064 RCV001001455
NM_000053.4(ATP7B):c.813C>T (p.Cys271=)	SNV Germline	Chr13:51974407	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_572147914	3 SubmittersRCV000943573
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)	SNV Germline	Chr13:51974814	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications		rs_557577836	4 SubmittersRCV000937216 RCV002298802
NM_000053.4(ATP7B):c.3557-8C>T	SNV Germline	Chr13:51939201	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_765668065	4 SubmittersRCV000943066 RCV001272284
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)	SNV Germline	Chr13:51958436	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1593726081	5 SubmittersRCV000985060
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly)	SNV Germline	Chr13:51937492	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1593645393	2 SubmittersRCV000989142
NM_000053.4(ATP7B):c.2448-4G>T	SNV Germline	Chr13:51950403	Conflicting classifications of pathogenicity	Condition: not provided not specified Wilson disease	Criteria Provided Conflicting Classifications		rs_1593697433	3 SubmittersRCV000996140 RCV001779100 RCV002550688
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=)	SNV Germline	Chr13:51957569	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_758690020	2 SubmittersRCV000996141 RCV002068723
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)	SNV Germline	Chr13:51950056	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1340729837	5 SubmittersRCV001002164 RCV002261249
NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter)	SNV Germline	Chr13:51974937	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_756929892	2 SubmittersRCV001001014
NM_000053.4(ATP7B):c.1947-19T>A	SNV Germline	Chr13:51960341	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1593733949	1 SubmittersRCV001003497
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)	SNV Germline	Chr13:51937337	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_778732681	3 SubmittersRCV001036116
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)	SNV Germline	Chr13:51946420	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_778163447	4 SubmittersRCV001068702 RCV002254330
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter)	SNV Germline	Chr13:51950045	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1957898187	5 SubmittersRCV001071453 RCV001509441
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)	SNV Germline	Chr13:51950335	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_748113748	1 SubmittersRCV001067105
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)	SNV Germline	Chr13:51958443	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1958499640	4 SubmittersRCV001067645
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)	SNV Germline	Chr13:51964895	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_374172791	9 SubmittersRCV001069979 RCV001508349
NM_000053.4(ATP7B):c.3061-2A>G	SNV Germline	Chr13:51944293	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1957520924	2 SubmittersRCV001046279
NM_000053.4(ATP7B):c.2447+1G>T	SNV Germline	Chr13:51957515	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1958431105	6 SubmittersRCV001064049 RCV003159560
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	SNV Germline	Chr13:51937520	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_762866453	8 SubmittersRCV001110986 RCV001552816
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)	SNV Germline	Chr13:51939125	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_61957448	3 SubmittersRCV001112989
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)	SNV Germline	Chr13:51944201	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_534622837	4 SubmittersRCV001110331
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)	SNV Germline	Chr13:51944238	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_761888880	5 SubmittersRCV001110332 RCV004032154
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)	SNV Germline	Chr13:51946347	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199581971	5 SubmittersRCV001111073 RCV002436707
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)	SNV Germline	Chr13:51949764	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1052485948	4 SubmittersRCV001113062
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)	SNV Germline	Chr13:51974611	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_781140058	4 SubmittersRCV001110502
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)	SNV Germline	Chr13:51974857	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_370199412	4 SubmittersRCV001111263
NM_000053.4(ATP7B):c.1544-12T>C	SNV Germline	Chr13:51968619	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201167060	5 SubmittersRCV001111163 RCV001593272 RCV002402502
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)	SNV Germline	Chr13:51974052	Conflicting classifications of pathogenicity	not specified Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_770903362	6 SubmittersRCV001174860 RCV001828588 RCV002327425
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)	SNV Germline	Chr13:51974821	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1033235740	4 SubmittersRCV001174890
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)	SNV Germline	Chr13:51935605	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1444841250	5 SubmittersRCV001193692
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)	SNV Germline	Chr13:51950289	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications		rs_752634617	5 SubmittersRCV001193695 RCV001286029
NM_000053.4(ATP7B):c.4125-1G>C	SNV Germline	Chr13:51935030	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1293549383	1 SubmittersRCV001193092
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)	SNV Germline	Chr13:51937517	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1257330000	2 SubmittersRCV001221684
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)	SNV Germline	Chr13:51944264	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1957518268	3 SubmittersRCV001220850
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)	SNV Germline	Chr13:51944243	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications		rs_750891085	4 SubmittersRCV001214086 RCV002241208
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)	SNV Germline	Chr13:51957600	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_541408630	8 SubmittersRCV001205588 RCV002275307
NM_000053.4(ATP7B):c.1945C>T (p.Gln649Ter)	SNV Germline	Chr13:51961838	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1958765122	2 SubmittersRCV001205711
NM_000053.4(ATP7B):c.3060+5G>T	SNV Germline	Chr13:51946279	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1353373400	5 SubmittersRCV001207532
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)	SNV Germline	Chr13:51941105	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1387431334	7 SubmittersRCV001232496 RCV003317461
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)	SNV Germline	Chr13:51946315	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_747584649	3 SubmittersRCV001236933
NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val)	SNV Germline	Chr13:51934820	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_553861183	2 SubmittersRCV001242516
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)	SNV Germline	Chr13:51970684	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_186300062	2 SubmittersRCV001242407
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)	SNV Germline	Chr13:51974717	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_756237962	8 SubmittersRCV001242208 RCV002261322
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)	SNV Germline	Chr13:51974364	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1183423966	2 SubmittersRCV001250186
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)	SNV Germline	Chr13:51937546	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1375884723	3 SubmittersRCV001251406
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)	SNV Germline	Chr13:51941086	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_755817220	7 SubmittersRCV001254597 RCV001751521 RCV002451623
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)	SNV Germline	Chr13:51968521	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_766906034	5 SubmittersRCV001260396
NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter)	SNV Unknown	Chr13:51941114	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_995516204	1 SubmittersRCV001264317
NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter)	SNV Unknown	Chr13:51942485	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1957395448	1 SubmittersRCV001263751
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)	SNV Germline	Chr13:51944115	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1957506216	3 SubmittersRCV001263752
NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter)	SNV Unknown	Chr13:51944189	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1957512345	1 SubmittersRCV001263753
NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter)	SNV Unknown	Chr13:51946395	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1957660801	1 SubmittersRCV001263754
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter)	SNV Unknown	Chr13:51950317	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_780292767	1 SubmittersRCV001263755
NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter)	SNV Unknown	Chr13:51964922	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1951466736	1 SubmittersRCV001263756
NM_000053.4(ATP7B):c.1699G>T (p.Glu567Ter)	SNV Unknown	Chr13:51968452	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1454088856	1 SubmittersRCV001263757
NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter)	SNV Unknown	Chr13:51968555	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1951683498	1 SubmittersRCV001263758
NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter)	SNV Unknown	Chr13:51974715	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1952020122	1 SubmittersRCV001263829
NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter)	SNV Unknown	Chr13:51974991	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1952034577	1 SubmittersRCV001263830
NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter)	SNV Unknown	Chr13:51975000	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1952035259	1 SubmittersRCV001263831
NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter)	SNV Unknown	Chr13:51975134	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_577406734	1 SubmittersRCV001263832
NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter)	SNV Germline	Chr13:51937613	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1957048901	2 SubmittersRCV001267645
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)	SNV Germline	Chr13:51968464	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_199875471	4 SubmittersRCV001280012 RCV002282508
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)	SNV Germline	Chr13:51968597	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_551051945	4 SubmittersRCV001280014 RCV002261330
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)	SNV Germline	Chr13:51974610	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_200605351	5 SubmittersRCV001280021 RCV001507827
NM_000053.4(ATP7B):c.3412+1G>A	SNV Germline	Chr13:51942385	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1957388064	3 SubmittersRCV001280567 RCV003481050
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe)	SNV Germline	Chr13:51958435	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1958498953	2 SubmittersRCV001285544
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)	SNV Germline	Chr13:51960240	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_2277447	5 SubmittersRCV001289883
NM_000053.4(ATP7B):c.1841G>A (p.Gly614Asp)	SNV Germline	Chr13:51964900	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1951465769	1 SubmittersRCV001290337
NM_000053.4(ATP7B):c.695C>T (p.Pro232Leu)	SNV Germline	Chr13:51974525	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_777932681	2 SubmittersRCV003051042
NM_000053.4(ATP7B):c.213A>G (p.Ser71=)	SNV Germline	Chr13:51975007	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1952036108	2 SubmittersRCV001348458
NM_000053.4(ATP7B):c.4124+5G>A	SNV Germline	Chr13:51935588	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1321980462	1 SubmittersRCV001366915
NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala)	SNV Germline	Chr13:51937517	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1257330000	1 SubmittersRCV001377097
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr)	SNV Germline	Chr13:51946357	Conflicting classifications of pathogenicity	Wilson disease ATP7B-related disorder	Criteria Provided Conflicting Classifications		rs_770782111	3 SubmittersRCV001378212 RCV003426062
NM_000053.4(ATP7B):c.2730+2T>A	SNV Germline	Chr13:51950005	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_2139201007	3 SubmittersRCV001378125
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)	SNV Germline	Chr13:51950329	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1017756733	4 SubmittersRCV001379176 RCV001509443
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)	SNV Germline	Chr13:51944146	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_201738147	3 SubmittersRCV001381921
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)	SNV Germline	Chr13:51944212	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1395504465	7 SubmittersRCV001389302 RCV001508711
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)	SNV Germline	Chr13:51944290	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_949421614	3 SubmittersRCV001389303
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)	SNV Germline	Chr13:51946315	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_747584649	5 SubmittersRCV001389304 RCV003481106
NM_000053.4(ATP7B):c.2866-2A>C	SNV Germline	Chr13:51946480	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1377418826	2 SubmittersRCV001384960
NM_000053.4(ATP7B):c.2447+5G>A	SNV Germline	Chr13:51957511	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1369012080	1 SubmittersRCV001381673
NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter)	SNV Germline	Chr13:51974034	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_763051801	3 SubmittersRCV001384612
NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter)	SNV Germline	Chr13:51974073	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_2140071850	2 SubmittersRCV001385918
NM_000053.4(ATP7B):c.3747G>A (p.Val1249=)	SNV Germline	Chr13:51937632	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_572110753	3 SubmittersRCV001414342 RCV003298688
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)	SNV Germline	Chr13:51934992	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_745866259	3 SubmittersRCV001473203
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)	SNV Germline	Chr13:51941221	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_199924281	6 SubmittersRCV001469712 RCV001579789 RCV001820163
NM_000053.4(ATP7B):c.2731-4A>C	SNV Germline	Chr13:51949800	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_2139193356	2 SubmittersRCV001459856
NM_000053.4(ATP7B):c.2241C>T (p.Ile747=)	SNV Germline	Chr13:51958425	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_757991922	2 SubmittersRCV001468675
NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=)	SNV Germline	Chr13:51968474	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_142187604	3 SubmittersRCV001461400 RCV001581143
NM_000053.4(ATP7B):c.3956G>A (p.Arg1319Gln)	SNV Germline	Chr13:51937341	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_529307157	2 SubmittersRCV001496259
NM_000053.4(ATP7B):c.3465G>T (p.Arg1155Ser)	SNV Germline	Chr13:51941172	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_201985951	2 SubmittersRCV001492743
NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter)	SNV Germline	Chr13:51935010	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2138414735	4 SubmittersRCV001506991 RCV003992531
NM_000053.4(ATP7B):c.4125-1G>T	SNV Germline	Chr13:51935030	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1293549383	2 SubmittersRCV001506990
NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr)	SNV Germline	Chr13:51937559	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138578550	1 SubmittersRCV001507004
NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr)	SNV Germline	Chr13:51941090	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138775370	1 SubmittersRCV001506989
NM_000053.4(ATP7B):c.3316G>C (p.Val1106Leu)	SNV Germline	Chr13:51942482	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_541208827	1 SubmittersRCV001507002
NM_000053.4(ATP7B):c.3074T>A (p.Met1025Lys)	SNV Germline	Chr13:51944278	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1555286633	1 SubmittersRCV001507001
NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg)	SNV Germline	Chr13:51946285	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2139046115	1 SubmittersRCV001506983
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu)	SNV Germline	Chr13:51950340	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_773809011	2 SubmittersRCV001506988
NM_000053.4(ATP7B):c.2506G>A (p.Gly836Arg)	SNV Germline	Chr13:51950341	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2139228853	1 SubmittersRCV001506999
NM_000053.4(ATP7B):c.2356-2A>G	SNV Germline	Chr13:51957609	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_2139505830	4 SubmittersRCV001506987
NM_000053.4(ATP7B):c.1869+2T>C	SNV Germline	Chr13:51964870	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_2139767694	2 SubmittersRCV001506984
NM_000053.4(ATP7B):c.1658C>A (p.Ala553Glu)	SNV Germline	Chr13:51968493	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1179062239	1 SubmittersRCV001506985
NM_000053.4(ATP7B):c.1369C>T (p.Gln457Ter)	SNV Germline	Chr13:51970666	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1951795080	3 SubmittersRCV001506997
NM_000053.4(ATP7B):c.1286-2A>G	SNV Germline	Chr13:51970751	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_2139975409	3 SubmittersRCV001506996
NM_000053.4(ATP7B):c.3089G>A (p.Gly1030Asp)	SNV Germline	Chr13:51944263	Pathogenic/Likely pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_2138958110	2 SubmittersRCV001508712 RCV003502595
NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter)	SNV Germline	Chr13:51968474	Pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_142187604	3 SubmittersRCV001508350 RCV001729928
NM_000053.4(ATP7B):c.3201T>G (p.Ser1067Arg)	SNV Germline	Chr13:51944151	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138947313	1 SubmittersRCV001527076
NM_000053.4(ATP7B):c.3007G>C (p.Ala1003Pro)	SNV Germline	Chr13:51946337	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_201497300	1 SubmittersRCV001527074
NM_000053.4(ATP7B):c.2971A>G (p.Thr991Ala)	SNV Germline	Chr13:51946373	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1476409946	2 SubmittersRCV001527077
NM_000053.4(ATP7B):c.2337G>C (p.Trp779Cys)	SNV Germline	Chr13:51958329	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_137853282	1 SubmittersRCV001527078
NM_000053.4(ATP7B):c.1811C>A (p.Ala604Asp)	SNV Germline	Chr13:51964930	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_959916899	1 SubmittersRCV001527075
NM_000053.4(ATP7B):c.1708-34G>A	SNV Germline	Chr13:51965067	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_780389157	1 SubmittersRCV001527072
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)	SNV Germline	Chr13:51960161	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_767218895	5 SubmittersRCV001532934 RCV003481119
NM_000053.4(ATP7B):c.2919G>A (p.Gln973=)	SNV Germline	Chr13:51946425	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_537498754	2 SubmittersRCV001559287
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)	SNV Germline	Chr13:51935629	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_776848753	3 SubmittersRCV001580636
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser)	SNV Germline	Chr13:51937326	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_760285767	4 SubmittersRCV001619768
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe)	SNV Germline	Chr13:51946420	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_778163447	2 SubmittersRCV001768925 RCV003609187
NM_000053.4(ATP7B):c.3557-1G>C	SNV Germline	Chr13:51939194	Pathogenic/Likely pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_2138674428	2 SubmittersRCV001817789 RCV002545181
NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter)	SNV Germline	Chr13:51950132	Pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_191312027	3 SubmittersRCV001817790 RCV002542703
NM_000053.4(ATP7B):c.2121+1G>A	SNV Germline	Chr13:51960147	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_751235573	2 SubmittersRCV001823703
NM_000053.4(ATP7B):c.1543+15C>G	SNV Germline	Chr13:51970477	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications		rs_1365158305	2 SubmittersRCV001825125 RCV003772348
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu)	SNV Germline	Chr13:51946303	Conflicting classifications of pathogenicity	not specified Wilson disease	Criteria Provided Conflicting Classifications		rs_2139048200	2 SubmittersRCV001844588 RCV003502610
NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu)	SNV Germline	Chr13:51942516	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1957397703	2 SubmittersRCV001989496
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val)	SNV Germline	Chr13:51949795	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1014184765	2 SubmittersRCV002034064 RCV002454317
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)	SNV Germline	Chr13:51949765	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1230241288	5 SubmittersRCV001881506 RCV002261405
NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg)	SNV Germline	Chr13:51958366	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_776668666	1 SubmittersRCV001991571
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu)	SNV Germline	Chr13:51950131	Conflicting classifications of pathogenicity	Wilson disease ATP7B-related disorder	Criteria Provided Conflicting Classifications		rs_775553302	2 SubmittersRCV002032183 RCV003923417
NM_000053.4(ATP7B):c.3061-1G>A	SNV Germline	Chr13:51944292	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_780955130	4 SubmittersRCV002037652
NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter)	SNV Germline	Chr13:51970696	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_746637821	1 SubmittersRCV001999923
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val)	SNV Germline	Chr13:51935642	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1956914257	2 SubmittersRCV001991118
NM_000053.4(ATP7B):c.2303C>G (p.Pro768Arg)	SNV Germline	Chr13:51958363	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1057516844	1 SubmittersRCV001985854
NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter)	SNV Germline	Chr13:51937607	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1566444909	1 SubmittersRCV001951859
NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu)	SNV Germline	Chr13:51939062	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_200911496	1 SubmittersRCV002019460
NM_000053.4(ATP7B):c.2448G>T (p.Arg816Ser)	SNV Germline	Chr13:51950399	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1957924589	1 SubmittersRCV001950954
NM_000053.4(ATP7B):c.2121+3A>T	SNV Germline	Chr13:51960145	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1248002612	1 SubmittersRCV001970185
NM_000053.4(ATP7B):c.1707+1G>A	SNV Germline	Chr13:51968443	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_377001615	3 SubmittersRCV002030308
NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala)	SNV Germline	Chr13:51950275	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2139220914	1 SubmittersRCV002019924
NM_000053.4(ATP7B):c.2122-1G>C	SNV Germline	Chr13:51958545	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1319653818	1 SubmittersRCV001976500
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu)	SNV Germline	Chr13:51958534	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_2139545313	2 SubmittersRCV001976510
NM_000053.4(ATP7B):c.4022G>T (p.Gly1341Val)	SNV Germline	Chr13:51935695	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_779494870	2 SubmittersRCV002009173
NM_000053.4(ATP7B):c.3280T>C (p.Phe1094Leu)	SNV Germline	Chr13:51942518	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1397083296	1 SubmittersRCV001886445
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg)	SNV Germline	Chr13:51946346	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_751078884	3 SubmittersRCV001980135
NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter)	SNV Germline	Chr13:51949720	Pathogenic	Wilson disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_776002066	4 SubmittersRCV001997260 RCV002441097
NM_000053.4(ATP7B):c.2730+2T>C	SNV Germline	Chr13:51950005	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2139201007	1 SubmittersRCV002025718
NM_000053.4(ATP7B):c.4022-3C>T	SNV Germline	Chr13:51935698	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_531487054	2 SubmittersRCV001891457
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr)	SNV Germline	Chr13:51937338	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_548512104	3 SubmittersRCV002019163
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)	SNV Germline	Chr13:51958483	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications		rs_760713333	4 SubmittersRCV001994832 RCV002282667
NM_000053.4(ATP7B):c.1543+1G>C	SNV Germline	Chr13:51970491	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1360279134	2 SubmittersRCV002037934
NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys)	SNV Germline	Chr13:51949710	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1057517310	2 SubmittersRCV001916111
NM_000053.4(ATP7B):c.3244-1G>A	SNV Germline	Chr13:51942555	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138859417	1 SubmittersRCV001933665
NM_000053.4(ATP7B):c.404C>G (p.Ser135Ter)	SNV Germline	Chr13:51974816	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2140103116	1 SubmittersRCV001942120
NM_000053.4(ATP7B):c.1544-1G>A	SNV Germline	Chr13:51968608	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1951686649	1 SubmittersRCV001995668
NM_000053.4(ATP7B):c.2447+1G>A	SNV Germline	Chr13:51957515	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_1958431105	2 SubmittersRCV001939532
NM_000053.4(ATP7B):c.721C>T (p.Gln241Ter)	SNV Germline	Chr13:51974499	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2140091906	1 SubmittersRCV001899589
NM_000053.4(ATP7B):c.3270C>G (p.Tyr1090Ter)	SNV Germline	Chr13:51942528	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138857747	1 SubmittersRCV001951276
NM_000053.4(ATP7B):c.2731-1G>A	SNV Germline	Chr13:51949797	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2139193234	1 SubmittersRCV001972470
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly)	SNV Germline	Chr13:51937339	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138561490	1 SubmittersRCV002038013
NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala)	SNV Germline	Chr13:51941200	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138787759	1 SubmittersRCV002038029
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)	SNV Germline	Chr13:51934959	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_2138407151	2 SubmittersRCV001951049
NM_000053.4(ATP7B):c.2906G>C (p.Arg969Pro)	SNV Germline	Chr13:51946438	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_121907996	1 SubmittersRCV002036164
NM_000053.4(ATP7B):c.3304A>T (p.Ile1102Phe)	SNV Germline	Chr13:51942494	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138854011	1 SubmittersRCV001995872
NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln)	SNV Germline	Chr13:51937638	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_767464491	2 SubmittersRCV001956421 RCV002261432
NM_000053.4(ATP7B):c.3584C>T (p.Ala1195Val)	SNV Germline	Chr13:51939166	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2138671758	1 SubmittersRCV002018502
NM_000053.4(ATP7B):c.1493C>T (p.Thr498Ile)	SNV Germline	Chr13:51970542	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2139962593	1 SubmittersRCV001996052
NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu)	SNV Germline	Chr13:51942516	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1957397703	1 SubmittersRCV001951314
NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn)	SNV Germline	Chr13:51950362	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_181388674	1 SubmittersRCV002008788
NM_000053.4(ATP7B):c.1537G>T (p.Glu513Ter)	SNV Germline	Chr13:51970498	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2139960322	1 SubmittersRCV001902199
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=)	SNV Germline	Chr13:51974119	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_759359836	2 SubmittersRCV001958284
NM_000053.4(ATP7B):c.1947-1G>C	SNV Germline	Chr13:51960323	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1405260211	1 SubmittersRCV002029202
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)	SNV Germline	Chr13:51950075	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1455758826	4 SubmittersRCV002023924 RCV002509746 RCV002548851
NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu)	SNV Germline	Chr13:51958371	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_774769813	1 SubmittersRCV001984040
NM_000053.4(ATP7B):c.1286-1G>T	SNV Germline	Chr13:51970750	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_2139975355	1 SubmittersRCV002012409
NM_000053.4(ATP7B):c.3417A>C (p.Ala1139=)	SNV Germline	Chr13:51941220	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_769949202	4 SubmittersRCV002200979 RCV003389903 RCV003348814
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)	SNV Germline	Chr13:51944135	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_376112375	3 SubmittersRCV002077425
NM_000053.4(ATP7B):c.1176G>T (p.Val392=)	SNV Germline	Chr13:51974044	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications		rs_1951977983	2 SubmittersRCV002084127
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile)	SNV Germline	Chr13:51937570	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts		rs_121907990	2 SubmittersRCV002248978
NM_000053.4(ATP7B):c.3412+1G>C	SNV Germline	Chr13:51942385	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1957388064	1 SubmittersRCV002251695
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr)	SNV Germline	Chr13:51958367	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications		rs_2139531503	3 SubmittersRCV002254510 RCV003094178
NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter)	SNV Unknown	Chr13:51974807	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV002309632
NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)	SNV Germline	Chr13:51937622	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002308044
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)	SNV Unknown	Chr13:51942486	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV002309365
NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter)	SNV Unknown	Chr13:51942533	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV002306926
NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter)	SNV Unknown	Chr13:51970538	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV002310150
NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter)	SNV Unknown	Chr13:51970570	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV002310276
NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly)	SNV Germline	Chr13:51942425	Conflicting classifications of pathogenicity	Inborn genetic diseases Wilson disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV002451759 RCV003102359
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)	SNV Germline	Chr13:51975012	Pathogenic/Likely pathogenic	Inborn genetic diseases Wilson disease	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002424022 RCV003464547
NM_000053.4(ATP7B):c.4230G>A (p.Trp1410Ter)	SNV Germline	Chr13:51934924	Pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003062589
NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro)	SNV Germline	Chr13:51937332	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003062590 RCV003481368
NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)	SNV Germline	Chr13:51937385	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003062591
NM_000053.4(ATP7B):c.3010C>T (p.Gln1004Ter)	SNV Germline	Chr13:51946334	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003041192
NM_000053.4(ATP7B):c.2963G>T (p.Gly988Val)	SNV Germline	Chr13:51946381	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003041193
NM_000053.4(ATP7B):c.2957C>T (p.Ser986Phe)	SNV Germline	Chr13:51946387	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003062595
NM_000053.4(ATP7B):c.2763T>A (p.Ser921Arg)	SNV Germline	Chr13:51949764	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003062596
NM_000053.4(ATP7B):c.2561A>G (p.Glu854Gly)	SNV Germline	Chr13:51950286	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003058423
NM_000053.4(ATP7B):c.2527G>A (p.Gly843Arg)	SNV Germline	Chr13:51950320	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003062599
NM_000053.4(ATP7B):c.2185A>G (p.Met729Val)	SNV Germline	Chr13:51958481	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003041196
NM_000053.4(ATP7B):c.1946+1G>A	SNV Germline	Chr13:51961836	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003062602
NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His)	SNV Germline	Chr13:51968557	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003062603
NM_000053.4(ATP7B):c.3413-20C>G	SNV Germline	Chr13:51941244	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003068971
NM_000053.4(ATP7B):c.2485G>C (p.Asp829His)	SNV Germline	Chr13:51950362	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter			1 SubmittersRCV003061598
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)	SNV Germline	Chr13:51944132	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV003091933

NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)

SNV
Germline

Chr13:51944145

Pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220309

rs_76151636

39 SubmittersRCV000004052 RCV000078049 RCV002321470

NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)

SNV
Germline

Chr13:51937583

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252890

rs_121907992

18 SubmittersRCV000004053 RCV001507825

NM_000053.4(ATP7B):c.1708-1G>C

SNV
Germline

Chr13:51965034

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252891

rs_137853280

13 SubmittersRCV000004054 RCV001579816

NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)

SNV
Germline

Chr13:51950116

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252892

rs_121907994

19 SubmittersRCV000004055 RCV001091639

NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)

SNV
Germline

Chr13:51958333

Pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340126

rs_28942074

21 SubmittersRCV000004056 RCV000389880 RCV002444420 RCV003398441

NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)

SNV
Germline

Chr13:51958373

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA252893

rs_28942075

9 SubmittersRCV000004059

NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)

SNV
Germline

Chr13:51949700

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252894

rs_28942076

11 SubmittersRCV000004060 RCV001091638

NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)

SNV
Germline

Chr13:51949772

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252895

rs_121907993

9 SubmittersRCV000004061 RCV001818123

NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)

SNV
Germline

Chr13:51937570

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA252896

rs_121907990

21 SubmittersRCV000004063 RCV000595271 RCV002354147 RCV003904803

NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)

SNV
Germline

Chr13:51946438

Pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252897

rs_121907996

17 SubmittersRCV000004064 RCV000270891 RCV003904804

NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)

SNV
Germline

Chr13:51958369

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA252898

rs_121907997

4 SubmittersRCV000004065

NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)

SNV
Germline

Chr13:51961849

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252899

rs_121907998

22 SubmittersRCV000004066 RCV001508347 RCV002408449 RCV003398442

NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)

SNV
Germline

Chr13:51941194

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA259856

rs_60431989

16 SubmittersRCV000023582 RCV000727509 RCV002453275

NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)

SNV
Germline

Chr13:51974355

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252900

rs_121907999

14 SubmittersRCV000004068 RCV000421016

NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)

SNV
Germline

Chr13:51958543

Pathogenic

Wilson disease
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252902

rs_121908000

14 SubmittersRCV000004069 RCV000507833 RCV000597397

NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)

SNV
Germline

Chr13:51960198

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA252903

rs_121908001

8 SubmittersRCV000004070

NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg)

SNV
Germline

Chr13:51941111

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_137853279

1 SubmittersRCV001852911

NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)

SNV
Germline

Chr13:51968544

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA260129

rs_138427376

17 SubmittersRCV000029352 RCV000374856 RCV000514302 RCV002390119 RCV003934854

NM_000053.4(ATP7B):c.2122-8T>G

SNV
Germline

Chr13:51958552

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA260131

rs_193922102

9 SubmittersRCV000029354 RCV001508345 RCV003398570

NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)

SNV
Germline

Chr13:51958361

Pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA171300

rs_193922103

18 SubmittersRCV000029355 RCV000078041 RCV002444440

NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)

SNV
Germline

Chr13:51946414

Pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220308

rs_72552255

18 SubmittersRCV000029359 RCV000790662 RCV002433469 RCV003924861

NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)

SNV
Germline

Chr13:51946391

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA260132

rs_193922104

9 SubmittersRCV000029360 RCV000726685 RCV002433470 RCV003407364

NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)

SNV
Germline

Chr13:51946372

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified
ATP7B-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA090896

rs_41292782

18 SubmittersRCV000029361 RCV000255583 RCV000505878 RCV003904863 RCV002513236

NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)

SNV
Germline

Chr13:51946299

Conflicting classifications of pathogenicity

Wilson disease
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA171306

rs_1801248

21 SubmittersRCV000029365 RCV000145268 RCV002444441

NM_000053.4(ATP7B):c.3557-6C>T

SNV
Germline

Chr13:51939199

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA260142

rs_140708492

14 SubmittersRCV000029371 RCV000248416 RCV000488125

NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)

SNV
Germline

Chr13:51939162

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA260143

rs_11840224

10 SubmittersRCV000029372 RCV000439420 RCV001579583

NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)

SNV
Germline

Chr13:51939091

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260145

rs_193922107

9 SubmittersRCV000029374 RCV000413521

NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)

SNV
Germline

Chr13:51937342

Pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA260148

rs_193922109

19 SubmittersRCV000029377 RCV000494120 RCV002371783

NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)

SNV
Germline

Chr13:51935659

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260150

rs_193922110

11 SubmittersRCV000029378 RCV000415977

NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)

SNV
Germline

Chr13:51934853

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA260152

rs_60986317

19 SubmittersRCV000029379 RCV000224611 RCV000251030

NM_000053.4(ATP7B):c.*16G>A

SNV
Germline

Chr13:51934740

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA260156

rs_193922100

4 SubmittersRCV000029383 RCV000865113 RCV001420713

NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)

SNV
Germline

Chr13:51968530

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA220306

rs_187046823

11 SubmittersRCV000670794 RCV000487499 RCV004017388

NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)

SNV
Germline

Chr13:51958356

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA145672

rs_398123136

11 SubmittersRCV000078042 RCV000631249 RCV001310698 RCV003162506

NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)

SNV
Germline

Chr13:51942429

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA145683

rs_61733679

10 SubmittersRCV000078050 RCV000302449 RCV000588949 RCV002453394

NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)

SNV
Germline

Chr13:51937490

Conflicting classifications of pathogenicity

not specified
Wilson disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145689

rs_148399850

15 SubmittersRCV000078053 RCV000490530 RCV002354273 RCV003333954

NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)

SNV
Germline

Chr13:51974592

Conflicting classifications of pathogenicity

Condition: not provided
ATP7B-related disorder
Wilson disease

Criteria Provided
Conflicting Classifications

CA220311

rs_61733680

9 SubmittersRCV000436240 RCV003935015 RCV001001253

NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)

SNV
Germline

Chr13:51974305

Pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA220313

rs_398123137

5 SubmittersRCV000175511 RCV001201260

NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)

SNV
Germline

Chr13:51958538

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270731

rs_137853285

14 SubmittersRCV000144365 RCV000497757

NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)

SNV
Germline

Chr13:51958334

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270733

rs_137853284

12 SubmittersRCV000144367 RCV001092072

NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)

SNV
Germline

Chr13:51958330

Pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA270734

rs_137853283

14 SubmittersRCV000144368 RCV000724020 RCV002453462

NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter)

SNV
Germline

Chr13:51958329

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270736

rs_137853282

4 SubmittersRCV000144369 RCV003480060

NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)

SNV
Germline

Chr13:51975098

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA271166

rs_201738967

21 SubmittersRCV000145251 RCV000416017 RCV002514798

NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)

SNV
Germline

Chr13:51961906

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA271167

rs_587783299

15 SubmittersRCV000145253 RCV000415842 RCV003162602

NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)

SNV
Germline

Chr13:51960300

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271168

rs_372436901

4 SubmittersRCV000145255 RCV000590476

NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)

SNV
Germline

Chr13:51960274

Conflicting classifications of pathogenicity

Wilson disease
Epileptic encephalopathy
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA271169

rs_72552259

19 SubmittersRCV000145256 RCV000415012 RCV000498564 RCV000855573 RCV002415630

NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)

SNV
Germline

Chr13:51960267

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA271170

rs_587783301

6 SubmittersRCV000145257 RCV000427356 RCV002265624

NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)

SNV
Germline

Chr13:51958374

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA171298

rs_372979339

11 SubmittersRCV000145260 RCV000855544 RCV002225450 RCV003895023

NM_000053.4(ATP7B):c.2355+13T>G

SNV
Germline

Chr13:51958298

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA171301

rs_139211339

14 SubmittersRCV000145262 RCV000586589 RCV000607602

NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)

SNV
Germline

Chr13:51950132

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA271172

rs_191312027

27 SubmittersRCV000145263 RCV000413599 RCV000623574 RCV003415974

NM_000053.4(ATP7B):c.2865+1G>A

SNV
Germline

Chr13:51949661

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA271173

rs_587783306

6 SubmittersRCV000145266

NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro)

SNV
Germline

Chr13:51946333

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA271174

rs_587783307

3 SubmittersRCV000145267

NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)

SNV
Germline

Chr13:51944164

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA171310

rs_587783309

8 SubmittersRCV000145270 RCV000675167 RCV001508710

NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)

SNV
Germline

Chr13:51942474

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA271175

rs_372456815

9 SubmittersRCV000145272 RCV001707533 RCV002321620

NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)

SNV
Germline

Chr13:51941139

Conflicting classifications of pathogenicity

not specified
Wilson disease
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA171319

rs_587783314

7 SubmittersRCV000145276 RCV000350613 RCV002453467 RCV003895024

NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)

SNV
Germline

Chr13:51941089

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA171321

rs_587783315

6 SubmittersRCV000145277 RCV000667056 RCV001576695

NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)

SNV
Germline

Chr13:51937276

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA271177

rs_587783317

3 SubmittersRCV000145280

NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)

SNV
Germline

Chr13:51935678

Conflicting classifications of pathogenicity

Wilson disease
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA271178

rs_587783318

10 SubmittersRCV000145281 RCV003895025

NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)

SNV
Germline

Chr13:51935019

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wilson disease
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA271180

rs_181250704

18 SubmittersRCV000309770 RCV000587055 RCV000763902 RCV002252001 RCV002326851

NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)

SNV
Germline

Chr13:51937493

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA272855

rs_199821556

12 SubmittersRCV000148375 RCV001091634

NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)

SNV
Germline

Chr13:51935629

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274112

rs_776848753

7 SubmittersRCV000169268 RCV003480071

NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)

SNV
Germline

Chr13:51935666

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274170

rs_786204578

12 SubmittersRCV000169321 RCV000726684

NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)

SNV
Germline

Chr13:51937484

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA274423

rs_749472361

9 SubmittersRCV000169572

NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)

SNV
Germline

Chr13:51937561

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274408

rs_758355520

11 SubmittersRCV000169558 RCV001310695

NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)

SNV
Germline

Chr13:51939104

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274052

rs_776280797

10 SubmittersRCV000169211 RCV000725176

NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)

SNV
Germline

Chr13:51939152

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA274326

rs_786204658

3 SubmittersRCV000169453

NM_000053.4(ATP7B):c.3556+1G>A

SNV
Germline

Chr13:51941080

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274325

rs_184388696

8 SubmittersRCV000169452 RCV003159558

NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)

SNV
Germline

Chr13:51941081

Pathogenic/Likely pathogenic

Wilson disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274098

rs_786204547

12 SubmittersRCV000169260 RCV002453567 RCV002254281

NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)

SNV
Germline

Chr13:51941120

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA274321

rs_756029120

10 SubmittersRCV000169445

NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)

SNV
Germline

Chr13:51941186

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274020

rs_755554442

14 SubmittersRCV000169188 RCV001596981 RCV003422061

NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)

SNV
Germline

Chr13:51942497

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA273987

rs_786204483

9 SubmittersRCV000169142

NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)

SNV
Germline

Chr13:51942535

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274082

rs_753250853

13 SubmittersRCV000169240 RCV001557295 RCV003907530

NM_000053.4(ATP7B):c.3244-2A>G

SNV
Germline

Chr13:51942556

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274176

rs_786204584

8 SubmittersRCV000169327 RCV003480072

NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)

SNV
Germline

Chr13:51946291

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273886

rs_371840514

10 SubmittersRCV000169019 RCV001558241 RCV003390880

NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)

SNV
Germline

Chr13:51946336

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Abnormality of metabolism/homeostasis

Criteria Provided
Multiple Submitters
No Conflicts

CA273949

rs_775055397

13 SubmittersRCV000169109 RCV001508716 RCV001814079

NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)

SNV
Germline

Chr13:51946337

Pathogenic/Likely pathogenic

Wilson disease
Epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273980

rs_201497300

12 SubmittersRCV000169133 RCV000415237 RCV003311702

NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)

SNV
Germline

Chr13:51946369

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274013

rs_201038679

13 SubmittersRCV000169179 RCV000362786 RCV002433726

NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)

SNV
Germline

Chr13:51949699

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274329

rs_779323689

8 SubmittersRCV000169455 RCV001531800

NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)

SNV
Germline

Chr13:51949723

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273878

rs_750019452

13 SubmittersRCV000169002 RCV001509440

NM_000053.4(ATP7B):c.2731-2A>G

SNV
Germline

Chr13:51949798

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273891

rs_367956522

17 SubmittersRCV000169025 RCV000485754 RCV002433725 RCV003927563

NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)

SNV
Germline

Chr13:51950069

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274401

rs_786204718

9 SubmittersRCV000169535 RCV000514615

NM_000053.4(ATP7B):c.2575+1G>C

SNV
Germline

Chr13:51950271

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273907

rs_766149114

6 SubmittersRCV000169063 RCV001582664

NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)

SNV
Germline

Chr13:51950328

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274072

rs_768671894

10 SubmittersRCV000169233 RCV000333003

NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)

SNV
Germline

Chr13:51957580

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA273992

rs_751710854

11 SubmittersRCV000169151

NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)

SNV
Germline

Chr13:51961859

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274388

rs_72552285

10 SubmittersRCV000169521 RCV001508348

NM_000053.4(ATP7B):c.1285+2T>A

SNV
Germline

Chr13:51973933

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274399

rs_759749626

6 SubmittersRCV000169532 RCV003480073

NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)

SNV
Germline

Chr13:51974407

Pathogenic

Wilson disease
Condition: not provided
Intellectual disability, Wolff type

Criteria Provided
Multiple Submitters
No Conflicts

CA274145

rs_572147914

18 SubmittersRCV000169298 RCV000724151 RCV001823123

NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)

SNV
Germline

Chr13:51974889

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA274096

rs_774221179

5 SubmittersRCV000169259

NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)

SNV
Germline

Chr13:51974906

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274484

rs_753236073

9 SubmittersRCV000169629 RCV000293037

NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)

SNV
Germline

Chr13:51974966

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA274300

rs_786204643

4 SubmittersRCV000169428

NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)

SNV
Germline

Chr13:51949742

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wilson disease
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA200886

rs_534960245

9 SubmittersRCV000174213 RCV000587605 RCV001081569 RCV003955024

NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)

SNV
Germline

Chr13:51941132

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA277193

rs_749085322

5 SubmittersRCV000193725

NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)

SNV
Germline

Chr13:51944283

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205295

rs_187343742

11 SubmittersRCV000192460 RCV000948469 RCV001566425 RCV002444776

NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)

SNV
Germline

Chr13:51964969

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277133

rs_797045402

7 SubmittersRCV000193403 RCV002254284

NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter)

SNV
Germline

Chr13:51958517

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388023272

rs_1085307057

5 SubmittersRCV000490452

NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)

SNV
Germline

Chr13:51942396

Conflicting classifications of pathogenicity

not specified
Wilson disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988719

rs_145887771

9 SubmittersRCV000251888 RCV001001299 RCV002450763 RCV003391012

NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)

SNV
Germline

Chr13:51946368

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988851

rs_746358240

8 SubmittersRCV000242957 RCV000727508 RCV001111075

NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)

SNV
Germline

Chr13:51950363

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988992

rs_570594838

10 SubmittersRCV000245085 RCV000907046 RCV001699268

NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)

SNV
Germline

Chr13:51968531

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989290

rs_145798966

17 SubmittersRCV000244316 RCV000590083 RCV001086715 RCV002401951

NM_000053.4(ATP7B):c.1543+14G>A

SNV
Germline

Chr13:51970478

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989327

rs_770362811

3 SubmittersRCV000252542 RCV000286518

NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)

SNV
Germline

Chr13:51970609

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989352

rs_139289704

7 SubmittersRCV000267893 RCV000631245 RCV001311346

NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)

SNV
Germline

Chr13:51950368

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6988994

rs_539585071

8 SubmittersRCV000327770 RCV001242406 RCV001582911

NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)

SNV
Germline

Chr13:51946389

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
Inborn genetic diseases
ATP7B-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6988855

rs_116587608

14 SubmittersRCV000725741 RCV001080148 RCV002436109 RCV003947909 RCV002509346

NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)

SNV
Germline

Chr13:51937593

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6988568

rs_375007352

8 SubmittersRCV000276921 RCV001082927 RCV002348016

NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)

SNV
Germline

Chr13:51941215

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988687

rs_757549770

9 SubmittersRCV000372640 RCV000780935 RCV003151766

NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)

SNV
Germline

Chr13:51944231

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988802

rs_746485916

11 SubmittersRCV000308454 RCV003223635

NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)

SNV
Germline

Chr13:51950303

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6988981

rs_200996053

12 SubmittersRCV000261389 RCV000859330 RCV003422258

NM_000053.4(ATP7B):c.1278C>T (p.Val426=)

SNV
Germline

Chr13:51973942

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989402

rs_143556945

16 SubmittersRCV000306439 RCV000873189 RCV000610248 RCV002446564

NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)

SNV
Germline

Chr13:51937494

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6988550

rs_200597654

7 SubmittersRCV000271169 RCV001711923 RCV003930333

NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)

SNV
Germline

Chr13:51944170

Pathogenic

not specified
Wilson disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988785

rs_764131178

15 SubmittersRCV000506750 RCV000395391 RCV002321983 RCV001558379

NM_000053.4(ATP7B):c.1543+13C>T

SNV
Germline

Chr13:51970479

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6989328

rs_200171850

5 SubmittersRCV000341242 RCV000415979 RCV000423547

NM_000053.4(ATP7B):c.1230A>G (p.Pro410=)

SNV
Germline

Chr13:51973990

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989410

rs_772843652

6 SubmittersRCV000396679 RCV001579443

NM_000053.4(ATP7B):c.1122C>G (p.Val374=)

SNV
Germline

Chr13:51974098

Conflicting classifications of pathogenicity

Wilson disease
not specified
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6989439

rs_201254466

7 SubmittersRCV000277263 RCV000605593 RCV003930334

NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)

SNV
Germline

Chr13:51974480

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6989506

rs_376398239

6 SubmittersRCV000313711 RCV000425182 RCV001269200

NM_000053.4(ATP7B):c.51+4A>T

SNV
Germline

Chr13:52011283

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6989708

rs_369488210

18 SubmittersRCV000324263 RCV001729524

NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)

SNV
Germline

Chr13:51939062

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6988609

rs_200911496

16 SubmittersRCV000331049 RCV000455157 RCV000757022 RCV002522293

NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)

SNV
Germline

Chr13:51942402

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6988720

rs_370947152

10 SubmittersRCV000395395 RCV001356076 RCV002469127 RCV002450860

NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)

SNV
Germline

Chr13:51974048

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989425

rs_750724856

5 SubmittersRCV000367067 RCV001575381

NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)

SNV
Germline

Chr13:51974544

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989517

rs_749626601

3 SubmittersRCV000354484

NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)

SNV
Germline

Chr13:51974550

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989518

rs_200563529

8 SubmittersRCV000259729 RCV000755836 RCV000779819 RCV002520888

NM_000053.4(ATP7B):c.*1385G>A

SNV
Germline

Chr13:51933371

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644720

rs_41292780

2 SubmittersRCV000311850 RCV002262973

NM_000053.4(ATP7B):c.*148C>T

SNV
Germline

Chr13:51934608

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644741

rs_111901413

2 SubmittersRCV000360445 RCV001576381

NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)

SNV
Germline

Chr13:51934969

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA10644746

rs_368801566

5 SubmittersRCV000270155 RCV002469126

NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)

SNV
Germline

Chr13:51942523

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6988748

rs_368545738

8 SubmittersRCV000343352 RCV002261043 RCV002282117

NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)

SNV
Germline

Chr13:51944247

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6988808

rs_200324179

6 SubmittersRCV000363247 RCV000605266

NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)

SNV
Germline

Chr13:51949772

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988915

rs_121907993

12 SubmittersRCV000388607 RCV000999521

NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)

SNV
Germline

Chr13:51935603

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6988488

rs_755584106

4 SubmittersRCV000411139

NM_000053.4(ATP7B):c.3904-2A>G

SNV
Germline

Chr13:51937395

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041663

rs_1057517233

8 SubmittersRCV000411074 RCV001507824

NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)

SNV
Germline

Chr13:51941108

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041665

rs_1057516479

7 SubmittersRCV000412086 RCV001531799

NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)

SNV
Germline

Chr13:51941211

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6988685

rs_778749563

4 SubmittersRCV000409630 RCV002469139

NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)

SNV
Germline

Chr13:51942481

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988740

rs_775541743

4 SubmittersRCV000411980 RCV001508707

NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)

SNV
Germline

Chr13:51942503

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6988744

rs_761632029

8 SubmittersRCV000410034

NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)

SNV
Germline

Chr13:51944161

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6988781

rs_374094065

17 SubmittersRCV000411652 RCV001091637 RCV002323574

NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)

SNV
Germline

Chr13:51944248

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041666

rs_753594031

5 SubmittersRCV000410994

NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)

SNV
Germline

Chr13:51949710

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041667

rs_1057517310

6 SubmittersRCV000410917 RCV003480625

NM_000053.4(ATP7B):c.2730+1G>A

SNV
Germline

Chr13:51950006

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041669

rs_1057516425

5 SubmittersRCV000411590

NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)

SNV
Germline

Chr13:51958363

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041671

rs_1057516844

5 SubmittersRCV000410970

NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)

SNV
Germline

Chr13:51958509

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041672

rs_1057516380

3 SubmittersRCV000411738

NM_000053.4(ATP7B):c.1708-1G>A

SNV
Germline

Chr13:51965034

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041675

rs_137853280

3 SubmittersRCV000411333

NM_000053.4(ATP7B):c.1708-2A>G

SNV
Germline

Chr13:51965035

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041676

rs_1057517024

2 SubmittersRCV000409239

NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)

SNV
Germline

Chr13:51970565

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6989342

rs_778675259

5 SubmittersRCV000411554

NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr13:51970663

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041678

rs_1057516305

2 SubmittersRCV000409337

NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)

SNV
Unknown

Chr13:51975117

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA16041683

rs_1057516516

1 SubmittersRCV000412018

NM_000053.4(ATP7B):c.52-1G>T

SNV
Germline

Chr13:51975169

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA16041684

rs_1057517351

4 SubmittersRCV000411235

NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)

SNV
Unknown

Chr13:51946381

Likely pathogenic

Hand tremor
Kayser-Fleischer ring
Wilson disease

Criteria Provided
Single Submitter

CA16043475

rs_1057518867

1 SubmittersRCV000415306 RCV001198322

NM_000053.4(ATP7B):c.3243+5G>A

SNV
Germline

Chr13:51944104

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988773

rs_373193482

10 SubmittersRCV000441386 RCV002298584 RCV001785612

NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)

SNV
Germline

Chr13:51950277

Pathogenic/Likely pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16606473

rs_1057520235

4 SubmittersRCV000430661 RCV000667536

NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)

SNV
Germline

Chr13:51944192

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6988791

rs_377586515

7 SubmittersRCV000424597 RCV000959396 RCV003352863

NM_000053.4(ATP7B):c.-676A>G

SNV
Germline

Chr13:52012013

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA16606745

rs_1021025464

6 SubmittersRCV000426325 RCV000626321

NM_000053.4(ATP7B):c.1947-4C>T

SNV
Germline

Chr13:51960326

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989146

rs_74904335

6 SubmittersRCV000440735 RCV000631244 RCV001721333

NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met)

SNV
Germline

Chr13:51964981

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989232

rs_757716093

3 SubmittersRCV000423231 RCV001861551

NM_000053.4(ATP7B):c.51+13C>T

SNV
Germline

Chr13:52011274

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989704

rs_770273498

3 SubmittersRCV000441986 RCV001113268

NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)

SNV
Germline

Chr13:51942393

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wilson disease
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6988717

rs_373081328

11 SubmittersRCV000428724 RCV000590019 RCV001081467 RCV002451013 RCV003932647

NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)

SNV
Germline

Chr13:51946439

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988868

rs_774028495

6 SubmittersRCV000434557 RCV000780936

NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)

SNV
Germline

Chr13:51961861

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989172

rs_186924074

12 SubmittersRCV000587060 RCV001263514 RCV002525825 RCV000631248

NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe)

SNV
Germline

Chr13:51944116

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16621524

rs_1064797072

2 SubmittersRCV000487452

NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)

SNV
Germline

Chr13:51937305

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA388020881

rs_1131691741

3 SubmittersRCV000494555 RCV000984147 RCV002527096

NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)

SNV
Germline

Chr13:51942493

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988743

rs_560952220

13 SubmittersRCV000495835 RCV003480655

NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)

SNV
Germline

Chr13:51974873

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
not specified
ATP7B-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989581

rs_199773340

13 SubmittersRCV000755833 RCV001239682 RCV001532891 RCV003925432 RCV004023329

NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn)

SNV
Germline

Chr13:51974868

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989579

rs_769655497

6 SubmittersRCV000507116 RCV000945359 RCV003480658

NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)

SNV
Germline

Chr13:51934941

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6988455

rs_189601972

11 SubmittersRCV000513406 RCV000670982 RCV003488645

NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)

SNV
Germline

Chr13:51958334

Pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6989058

rs_137853284

15 SubmittersRCV000532036 RCV001091641 RCV002448619

NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)

SNV
Germline

Chr13:51958492

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989092

rs_115227204

4 SubmittersRCV000525049 RCV001509446

NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)

SNV
Germline

Chr13:51937663

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6988580

rs_374628199

7 SubmittersRCV000541103 RCV001507826 RCV002350175

NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)

SNV
Germline

Chr13:51942514

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388028728

rs_1555285891

4 SubmittersRCV000548917 RCV003480668

NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val)

SNV
Germline

Chr13:51935653

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA388020155

rs_1305262063

2 SubmittersRCV000590198 RCV003609157

NM_000053.4(ATP7B):c.3556+1G>T

SNV
Germline

Chr13:51941080

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388025828

rs_184388696

4 SubmittersRCV000587514

NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)

SNV
Germline

Chr13:51941185

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988682

rs_377297166

6 SubmittersRCV000586771 RCV000666672

NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)

SNV
Germline

Chr13:51958372

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388021872

rs_1555291147

5 SubmittersRCV000589178

NM_000053.4(ATP7B):c.2447+8A>G

SNV
Germline

Chr13:51957508

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989025

rs_747586752

3 SubmittersRCV000590003 RCV001273298

NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)

SNV
Germline

Chr13:51958535

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388023479

rs_1394999756

4 SubmittersRCV000586389 RCV003326468

NM_000053.4(ATP7B):c.1946+6T>C

SNV
Germline

Chr13:51961831

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6989167

rs_751287778

7 SubmittersRCV000588787 RCV003480706

NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)

SNV
Germline

Chr13:51970744

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989382

rs_145173864

4 SubmittersRCV000589895 RCV001459906

NM_000053.4(ATP7B):c.4022-19C>T

SNV
Germline

Chr13:51935714

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988507

rs_369736734

3 SubmittersRCV000587905 RCV000606511 RCV002530886

NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)

SNV
Germline

Chr13:51942482

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988741

rs_541208827

9 SubmittersRCV000674801 RCV002261126

NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)

SNV
Germline

Chr13:51960276

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wilson disease
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6989142

rs_146303208

15 SubmittersRCV000587250 RCV001003423 RCV001001851 RCV002530885 RCV003905504

NM_000053.4(ATP7B):c.445G>A (p.Val149Met)

SNV
Germline

Chr13:51974775

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989561

rs_200606656

7 SubmittersRCV000589823 RCV001111262 RCV002530887

NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)

SNV
Germline

Chr13:51942551

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388029024

rs_1286080173

7 SubmittersRCV000586978 RCV002223878

NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)

SNV
Germline

Chr13:51944131

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA388029823

rs_1206016866

5 SubmittersRCV000588068 RCV001829614

NM_000053.4(ATP7B):c.1708-5T>G

SNV
Germline

Chr13:51965038

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6989243

rs_770829226

6 SubmittersRCV000589652

NM_000053.4(ATP7B):c.999G>T (p.Gly333=)

SNV
Germline

Chr13:51974221

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989456

rs_371930715

2 SubmittersRCV000596907 RCV004002461

NM_000053.4(ATP7B):c.2448-11G>A

SNV
Germline

Chr13:51950410

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989002

rs_200450017

3 SubmittersRCV000615865 RCV001722622 RCV002063022

NM_000053.4(ATP7B):c.325C>T (p.Leu109=)

SNV
Germline

Chr13:51974895

Conflicting classifications of pathogenicity

Wilson disease
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989584

rs_751920801

8 SubmittersRCV000603728 RCV000612067 RCV002325149 RCV001726257

NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)

SNV
Germline

Chr13:51958476

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989089

rs_550565277

4 SubmittersRCV000604203 RCV000925140

NM_000053.4(ATP7B):c.1285+5G>T

SNV
Germline

Chr13:51973930

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided
Wilson disease
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6989401

rs_370579582

15 SubmittersRCV000624233 RCV000996144 RCV001004593 RCV003980208

NM_000053.4(ATP7B):c.4021+3A>G

SNV
Germline

Chr13:51937273

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988518

rs_565970531

3 SubmittersRCV000631252 RCV001597189

NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)

SNV
Germline

Chr13:51961859

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388027513

rs_72552285

5 SubmittersRCV000631234

NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)

SNV
Germline

Chr13:51935654

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1555282751

4 SubmittersRCV000670965

NM_000053.4(ATP7B):c.4022-2A>C

SNV
Germline

Chr13:51935697

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555282816

2 SubmittersRCV000669218

NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)

SNV
Germline

Chr13:51937502

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776300396

8 SubmittersRCV000669064 RCV001531798

NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)

SNV
Germline

Chr13:51937516

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_373748155

3 SubmittersRCV000672804

NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)

SNV
Germline

Chr13:51937537

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755202606

4 SubmittersRCV000665012 RCV001310694

NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)

SNV
Germline

Chr13:51937543

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_778914828

4 SubmittersRCV000668962

NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)

SNV
Germline

Chr13:51937612

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1555283946

2 SubmittersRCV000673283

NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)

SNV
Germline

Chr13:51937657

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555283994

2 SubmittersRCV000668265

NM_000053.4(ATP7B):c.3700-1G>A

SNV
Germline

Chr13:51937680

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555284021

3 SubmittersRCV000664525

NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)

SNV
Germline

Chr13:51939056

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_568009639

6 SubmittersRCV000670901

NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)

SNV
Unknown

Chr13:51941131

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1555285311

1 SubmittersRCV000673614

NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)

SNV
Germline

Chr13:51942526

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_778825095

6 SubmittersRCV000668718 RCV000757021 RCV000779813 RCV002531207

NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)

SNV
Germline

Chr13:51942532

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1555285911

2 SubmittersRCV000669922

NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)

SNV
Germline

Chr13:51944149

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1555286478

5 SubmittersRCV000665474 RCV001508708

NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)

SNV
Germline

Chr13:51946366

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200290721

11 SubmittersRCV000670460 RCV001310697 RCV002469248 RCV004026114

NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)

SNV
Germline

Chr13:51946405

Conflicting classifications of pathogenicity

Wilson disease
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

rs_1038582488

7 SubmittersRCV000672631 RCV003420191

NM_000053.4(ATP7B):c.2356-1G>A

SNV
Germline

Chr13:51957608

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555290925

2 SubmittersRCV000674374

NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)

SNV
Germline

Chr13:51958331

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_751798708

5 SubmittersRCV000673490 RCV001091640

NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)

SNV
Germline

Chr13:51958537

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555291285

5 SubmittersRCV000666574

NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)

SNV
Germline

Chr13:51960269

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1474837260

2 SubmittersRCV000672351

NM_000053.4(ATP7B):c.1544-2A>C

SNV
Unknown

Chr13:51968609

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1555294398

1 SubmittersRCV000669421

NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)

SNV
Germline

Chr13:51937595

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_769484789

7 SubmittersRCV000665788

NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)

SNV
Germline

Chr13:51939088

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1486594906

4 SubmittersRCV000667577

NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)

SNV
Unknown

Chr13:51939112

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1555284582

2 SubmittersRCV000664605

NM_000053.4(ATP7B):c.3243+1G>A

SNV
Germline

Chr13:51944108

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_748819198

5 SubmittersRCV000674164 RCV003480757

NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg)

SNV
Unknown

Chr13:51944278

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1555286633

1 SubmittersRCV000668464

NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)

SNV
Germline

Chr13:51946382

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_199623434

4 SubmittersRCV000672021

NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)

SNV
Germline

Chr13:51949775

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_540935874

5 SubmittersRCV000667455

NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)

SNV
Germline

Chr13:51950298

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_777629392

6 SubmittersRCV000670079 RCV001509442

NM_000053.4(ATP7B):c.2356-1G>C

SNV
Germline

Chr13:51957608

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555290925

2 SubmittersRCV000665943

NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter)

SNV
Germline

Chr13:51958521

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_751202110

3 SubmittersRCV000670942

NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)

SNV
Germline

Chr13:51960197

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555291801

6 SubmittersRCV000671031

NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)

SNV
Germline

Chr13:51974379

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555296356

3 SubmittersRCV000672954 RCV003222092

NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)

SNV
Germline

Chr13:51974658

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1412593296

6 SubmittersRCV000667618 RCV003324784

NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)

SNV
Germline

Chr13:51937561

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_758355520

4 SubmittersRCV000668789

NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)

SNV
Germline

Chr13:51944197

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_778543794

4 SubmittersRCV000671512

NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)

SNV
Germline

Chr13:51946346

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_751078884

8 SubmittersRCV000673544 RCV003319396

NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)

SNV
Germline

Chr13:51946360

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

rs_777791532

3 SubmittersRCV000672990 RCV003489792

NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter)

SNV
Unknown

Chr13:51949784

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1555288479

1 SubmittersRCV000671014

NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)

SNV
Unknown

Chr13:51950117

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_376355660

1 SubmittersRCV000674734

NM_000053.4(ATP7B):c.2575+5G>C

SNV
Germline

Chr13:51950267

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_551030054

2 SubmittersRCV000672253

NM_000053.4(ATP7B):c.2575+1G>A

SNV
Germline

Chr13:51950271

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_766149114

3 SubmittersRCV000673153

NM_000053.4(ATP7B):c.2447+2T>G

SNV
Unknown

Chr13:51957514

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1555290800

1 SubmittersRCV000674966

NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)

SNV
Germline

Chr13:51957535

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_770020484

3 SubmittersRCV000670601

NM_000053.4(ATP7B):c.2355+4A>G

SNV
Germline

Chr13:51958307

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776572343

5 SubmittersRCV000666959 RCV002442394

NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)

SNV
Germline

Chr13:51958333

Pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_28942074

10 SubmittersRCV000665805 RCV003992365 RCV003907929

NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)

SNV
Germline

Chr13:51958399

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_769927137

3 SubmittersRCV000670761

NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu)

SNV
Germline

Chr13:51960200

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

rs_1555291809

4 SubmittersRCV000671983 RCV002469250

NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)

SNV
Germline

Chr13:51968512

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_996419100

2 SubmittersRCV000665586

NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)

SNV
Germline

Chr13:51968535

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

rs_572122562

3 SubmittersRCV000671716 RCV002282316

NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter)

SNV
Unknown

Chr13:51968583

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_773385516

1 SubmittersRCV000665465

NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr13:51974157

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_778490238

6 SubmittersRCV000673196 RCV003106017

NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)

SNV
Germline

Chr13:51974226

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_761084829

8 SubmittersRCV000668824

NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)

SNV
Germline

Chr13:51974632

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_756718353

4 SubmittersRCV000670652

NM_000053.4(ATP7B):c.4125-2A>G

SNV
Germline

Chr13:51935031

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1555282347

3 SubmittersRCV000668311

NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)

SNV
Germline

Chr13:51935599

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_780811477

2 SubmittersRCV000668116

NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)

SNV
Unknown

Chr13:51935611

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1555282678

2 SubmittersRCV000672293

NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)

SNV
Unknown

Chr13:51937579

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555283916

2 SubmittersRCV000667671

NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)

SNV
Germline

Chr13:51937638

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_767464491

7 SubmittersRCV000664771

NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)

SNV
Germline

Chr13:51941201

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1213481140

2 SubmittersRCV000668453

NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)

SNV
Germline

Chr13:51944162

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_376910645

6 SubmittersRCV000665883 RCV001508709

NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)

SNV
Germline

Chr13:51944224

Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1412025509

5 SubmittersRCV000665305 RCV003480751

NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)

SNV
Germline

Chr13:51944266

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555286628

3 SubmittersRCV000672441

NM_000053.4(ATP7B):c.3061-12T>A

SNV
Germline

Chr13:51944303

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1045194246

6 SubmittersRCV000673212

NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)

SNV
Germline

Chr13:51949700

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_28942076

2 SubmittersRCV000674965

NM_000053.4(ATP7B):c.2576-2A>G

SNV
Germline

Chr13:51950163

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_757265256

2 SubmittersRCV000667057

NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)

SNV
Germline

Chr13:51958387

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_766907687

3 SubmittersRCV000667611

NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)

SNV
Germline

Chr13:51958535

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1394999756

7 SubmittersRCV000671462 RCV001509447

NM_000053.4(ATP7B):c.2122-1G>A

SNV
Germline

Chr13:51958545

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1319653818

4 SubmittersRCV000666348

NM_000053.4(ATP7B):c.2121+3A>G

SNV
Germline

Chr13:51960145

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1248002612

6 SubmittersRCV000667868

NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)

SNV
Germline

Chr13:51960191

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1212479289

4 SubmittersRCV000666566

NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)

SNV
Germline

Chr13:51960231

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555291848

2 SubmittersRCV000673015

NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)

SNV
Germline

Chr13:51964894

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_752850609

14 SubmittersRCV000667901 RCV001531802

NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)

SNV
Unknown

Chr13:51974570

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1555296472

1 SubmittersRCV000664948

NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)

SNV
Germline

Chr13:52011335

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_750530407

3 SubmittersRCV000668127

NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly)

SNV
Germline

Chr13:51950361

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1566503575

1 SubmittersRCV000707143

NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)

SNV
Germline

Chr13:51937383

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_377144951

4 SubmittersRCV000707116

NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val)

SNV
Germline

Chr13:51958315

Pathogenic

Wilson disease

No Assertion Criteria Provided

rs_1566532164

1 SubmittersRCV000721965

NM_000053.4(ATP7B):c.1543+1G>T

SNV
Germline

Chr13:51970491

Pathogenic

Wilson disease
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1360279134

9 SubmittersRCV000721966 RCV002397500 RCV003411660

NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser)

SNV
Germline

Chr13:51968457

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_778475094

2 SubmittersRCV000755712

NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser)

SNV
Germline

Chr13:51970560

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1566580253

1 SubmittersRCV000755711

NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys)

SNV
Germline

Chr13:51968556

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_375071383

2 SubmittersRCV000755835 RCV002533779

NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)

SNV
Germline

Chr13:51974724

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_755476114

5 SubmittersRCV000755839 RCV001275298

NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)

SNV
Germline

Chr13:51974994

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200642204

7 SubmittersRCV000757023 RCV001034284 RCV002233752 RCV002533126

NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)

SNV
Germline

Chr13:51941191

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566462533

9 SubmittersRCV000761257 RCV002286787

NM_000053.4(ATP7B):c.2866-2A>G

SNV
Germline

Chr13:51946480

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1377418826

3 SubmittersRCV000761418

NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)

SNV
Germline

Chr13:51934903

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

rs_546721020

6 SubmittersRCV000780931 RCV000943904

NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)

SNV
Germline

Chr13:51949732

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566498495

8 SubmittersRCV000780939

NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)

SNV
Germline

Chr13:51958369

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_121907997

9 SubmittersRCV000780926 RCV002223938

NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr)

SNV
Germline

Chr13:51960191

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

rs_1212479289

2 SubmittersRCV000779811 RCV002535662

NM_000053.4(ATP7B):c.1965G>T (p.Leu655=)

SNV
Germline

Chr13:51960304

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

rs_574041847

2 SubmittersRCV000780928 RCV001413641

NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)

SNV
Germline

Chr13:51970504

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1449610384

7 SubmittersRCV000780933

NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)

SNV
Germline

Chr13:51974062

Conflicting classifications of pathogenicity

not specified
Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778775834

8 SubmittersRCV000779810 RCV001114540 RCV003326513

NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)

SNV
Germline

Chr13:51974250

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_911589273

4 SubmittersRCV000780927

NM_000053.4(ATP7B):c.1869+20A>G

SNV
Germline

Chr13:51964852

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

rs_566255910

2 SubmittersRCV000780934 RCV002067374

NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)

SNV
Germline

Chr13:51934939

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767721448

5 SubmittersRCV000810166 RCV001731938

NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)

SNV
Germline

Chr13:51935695

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_779494870

6 SubmittersRCV000824312 RCV003480876

NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)

SNV
Germline

Chr13:51937495

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1340942427

4 SubmittersRCV000817111

NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)

SNV
Germline

Chr13:51944213

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1441316018

3 SubmittersRCV000811070 RCV003155318 RCV003480854

NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)

SNV
Germline

Chr13:51944273

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1593672840

2 SubmittersRCV000817129

NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)

SNV
Germline

Chr13:51950075

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1455758826

4 SubmittersRCV000796453

NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)

SNV
Germline

Chr13:51958366

Pathogenic/Likely pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_776668666

5 SubmittersRCV002223947 RCV000806274

NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)

SNV
Germline

Chr13:51974022

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

rs_199807461

7 SubmittersRCV001508351 RCV000804503 RCV003928277

NM_000053.4(ATP7B):c.3243+2T>C

SNV
Germline

Chr13:51944107

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1593671769

3 SubmittersRCV000816422

NM_000053.4(ATP7B):c.2122-3C>T

SNV
Germline

Chr13:51958547

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

rs_1593726901

3 SubmittersRCV000797318 RCV001193093

NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)

SNV
Germline

Chr13:51946350

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_373102009

5 SubmittersRCV000886986 RCV001111074

NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)

SNV
Germline

Chr13:51939126

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_377267217

5 SubmittersRCV000921851 RCV001088741

NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)

SNV
Germline

Chr13:51939168

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_761183334

4 SubmittersRCV000920076

NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)

SNV
Germline

Chr13:51958380

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_750477816

4 SubmittersRCV001110416

NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=)

SNV
Germline

Chr13:51937491

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_772616533

2 SubmittersRCV001414948

NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)

SNV
Germline

Chr13:51957527

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_533967323

5 SubmittersRCV000936710

NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)

SNV
Germline

Chr13:51958521

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_751202110

5 SubmittersRCV001172064 RCV001001455

NM_000053.4(ATP7B):c.813C>T (p.Cys271=)

SNV
Germline

Chr13:51974407

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_572147914

3 SubmittersRCV000943573

NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)

SNV
Germline

Chr13:51974814

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

rs_557577836

4 SubmittersRCV000937216 RCV002298802

NM_000053.4(ATP7B):c.3557-8C>T

SNV
Germline

Chr13:51939201

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_765668065

4 SubmittersRCV000943066 RCV001272284

NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)

SNV
Germline

Chr13:51958436

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1593726081

5 SubmittersRCV000985060

NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly)

SNV
Germline

Chr13:51937492

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1593645393

2 SubmittersRCV000989142

NM_000053.4(ATP7B):c.2448-4G>T

SNV
Germline

Chr13:51950403

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wilson disease

Criteria Provided
Conflicting Classifications

rs_1593697433

3 SubmittersRCV000996140 RCV001779100 RCV002550688

NM_000053.4(ATP7B):c.2394C>G (p.Leu798=)

SNV
Germline

Chr13:51957569

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_758690020

2 SubmittersRCV000996141 RCV002068723

NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)

SNV
Germline

Chr13:51950056

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1340729837

5 SubmittersRCV001002164 RCV002261249

NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr13:51974937

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_756929892

2 SubmittersRCV001001014

NM_000053.4(ATP7B):c.1947-19T>A

SNV
Germline

Chr13:51960341

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1593733949

1 SubmittersRCV001003497

NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)

SNV
Germline

Chr13:51937337

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_778732681

3 SubmittersRCV001036116

NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)

SNV
Germline

Chr13:51946420

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_778163447

4 SubmittersRCV001068702 RCV002254330

NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter)

SNV
Germline

Chr13:51950045

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957898187

5 SubmittersRCV001071453 RCV001509441

NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)

SNV
Germline

Chr13:51950335

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_748113748

1 SubmittersRCV001067105

NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)

SNV
Germline

Chr13:51958443

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1958499640

4 SubmittersRCV001067645

NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)

SNV
Germline

Chr13:51964895

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_374172791

9 SubmittersRCV001069979 RCV001508349

NM_000053.4(ATP7B):c.3061-2A>G

SNV
Germline

Chr13:51944293

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957520924

2 SubmittersRCV001046279

NM_000053.4(ATP7B):c.2447+1G>T

SNV
Germline

Chr13:51957515

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1958431105

6 SubmittersRCV001064049 RCV003159560

NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)

SNV
Germline

Chr13:51937520

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762866453

8 SubmittersRCV001110986 RCV001552816

NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)

SNV
Germline

Chr13:51939125

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_61957448

3 SubmittersRCV001112989

NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)

SNV
Germline

Chr13:51944201

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_534622837

4 SubmittersRCV001110331

NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)

SNV
Germline

Chr13:51944238

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_761888880

5 SubmittersRCV001110332 RCV004032154

NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)

SNV
Germline

Chr13:51946347

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199581971

5 SubmittersRCV001111073 RCV002436707

NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)

SNV
Germline

Chr13:51949764

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1052485948

4 SubmittersRCV001113062

NM_000053.4(ATP7B):c.609C>T (p.Asp203=)

SNV
Germline

Chr13:51974611

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_781140058

4 SubmittersRCV001110502

NM_000053.4(ATP7B):c.363C>T (p.Phe121=)

SNV
Germline

Chr13:51974857

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_370199412

4 SubmittersRCV001111263

NM_000053.4(ATP7B):c.1544-12T>C

SNV
Germline

Chr13:51968619

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201167060

5 SubmittersRCV001111163 RCV001593272 RCV002402502

NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)

SNV
Germline

Chr13:51974052

Conflicting classifications of pathogenicity

not specified
Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770903362

6 SubmittersRCV001174860 RCV001828588 RCV002327425

NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)

SNV
Germline

Chr13:51974821

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1033235740

4 SubmittersRCV001174890

NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)

SNV
Germline

Chr13:51935605

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1444841250

5 SubmittersRCV001193692

NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)

SNV
Germline

Chr13:51950289

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

rs_752634617

5 SubmittersRCV001193695 RCV001286029

NM_000053.4(ATP7B):c.4125-1G>C

SNV
Germline

Chr13:51935030

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1293549383

1 SubmittersRCV001193092

NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)

SNV
Germline

Chr13:51937517

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1257330000

2 SubmittersRCV001221684

NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)

SNV
Germline

Chr13:51944264

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957518268

3 SubmittersRCV001220850

NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)

SNV
Germline

Chr13:51944243

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

rs_750891085

4 SubmittersRCV001214086 RCV002241208

NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)

SNV
Germline

Chr13:51957600

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_541408630

8 SubmittersRCV001205588 RCV002275307

NM_000053.4(ATP7B):c.1945C>T (p.Gln649Ter)

SNV
Germline

Chr13:51961838

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1958765122

2 SubmittersRCV001205711

NM_000053.4(ATP7B):c.3060+5G>T

SNV
Germline

Chr13:51946279

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1353373400

5 SubmittersRCV001207532

NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)

SNV
Germline

Chr13:51941105

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1387431334

7 SubmittersRCV001232496 RCV003317461

NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)

SNV
Germline

Chr13:51946315

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_747584649

3 SubmittersRCV001236933

NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val)

SNV
Germline

Chr13:51934820

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_553861183

2 SubmittersRCV001242516

NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)

SNV
Germline

Chr13:51970684

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_186300062

2 SubmittersRCV001242407

NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)

SNV
Germline

Chr13:51974717

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756237962

8 SubmittersRCV001242208 RCV002261322

NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr13:51974364

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1183423966

2 SubmittersRCV001250186

NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)

SNV
Germline

Chr13:51937546

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1375884723

3 SubmittersRCV001251406

NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)

SNV
Germline

Chr13:51941086

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_755817220

7 SubmittersRCV001254597 RCV001751521 RCV002451623

NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)

SNV
Germline

Chr13:51968521

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_766906034

5 SubmittersRCV001260396

NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter)

SNV
Unknown

Chr13:51941114

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_995516204

1 SubmittersRCV001264317

NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter)

SNV
Unknown

Chr13:51942485

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1957395448

1 SubmittersRCV001263751

NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)

SNV
Germline

Chr13:51944115

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957506216

3 SubmittersRCV001263752

NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter)

SNV
Unknown

Chr13:51944189

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1957512345

1 SubmittersRCV001263753

NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter)

SNV
Unknown

Chr13:51946395

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1957660801

1 SubmittersRCV001263754

NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter)

SNV
Unknown

Chr13:51950317

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_780292767

1 SubmittersRCV001263755

NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter)

SNV
Unknown

Chr13:51964922

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1951466736

1 SubmittersRCV001263756

NM_000053.4(ATP7B):c.1699G>T (p.Glu567Ter)

SNV
Unknown

Chr13:51968452

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1454088856

1 SubmittersRCV001263757

NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter)

SNV
Unknown

Chr13:51968555

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1951683498

1 SubmittersRCV001263758

NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter)

SNV
Unknown

Chr13:51974715

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1952020122

1 SubmittersRCV001263829

NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter)

SNV
Unknown

Chr13:51974991

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1952034577

1 SubmittersRCV001263830

NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter)

SNV
Unknown

Chr13:51975000

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1952035259

1 SubmittersRCV001263831

NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter)

SNV
Unknown

Chr13:51975134

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_577406734

1 SubmittersRCV001263832

NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter)

SNV
Germline

Chr13:51937613

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957048901

2 SubmittersRCV001267645

NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)

SNV
Germline

Chr13:51968464

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199875471

4 SubmittersRCV001280012 RCV002282508

NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)

SNV
Germline

Chr13:51968597

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_551051945

4 SubmittersRCV001280014 RCV002261330

NM_000053.4(ATP7B):c.610A>G (p.Met204Val)

SNV
Germline

Chr13:51974610

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200605351

5 SubmittersRCV001280021 RCV001507827

NM_000053.4(ATP7B):c.3412+1G>A

SNV
Germline

Chr13:51942385

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957388064

3 SubmittersRCV001280567 RCV003481050

NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe)

SNV
Germline

Chr13:51958435

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1958498953

2 SubmittersRCV001285544

NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)

SNV
Germline

Chr13:51960240

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_2277447

5 SubmittersRCV001289883

NM_000053.4(ATP7B):c.1841G>A (p.Gly614Asp)

SNV
Germline

Chr13:51964900

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1951465769

1 SubmittersRCV001290337

NM_000053.4(ATP7B):c.695C>T (p.Pro232Leu)

SNV
Germline

Chr13:51974525

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_777932681

2 SubmittersRCV003051042

NM_000053.4(ATP7B):c.213A>G (p.Ser71=)

SNV
Germline

Chr13:51975007

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1952036108

2 SubmittersRCV001348458

NM_000053.4(ATP7B):c.4124+5G>A

SNV
Germline

Chr13:51935588

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1321980462

1 SubmittersRCV001366915

NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala)

SNV
Germline

Chr13:51937517

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1257330000

1 SubmittersRCV001377097

NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr)

SNV
Germline

Chr13:51946357

Conflicting classifications of pathogenicity

Wilson disease
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

rs_770782111

3 SubmittersRCV001378212 RCV003426062

NM_000053.4(ATP7B):c.2730+2T>A

SNV
Germline

Chr13:51950005

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2139201007

3 SubmittersRCV001378125

NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)

SNV
Germline

Chr13:51950329

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1017756733

4 SubmittersRCV001379176 RCV001509443

NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)

SNV
Germline

Chr13:51944146

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_201738147

3 SubmittersRCV001381921

NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)

SNV
Germline

Chr13:51944212

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1395504465

7 SubmittersRCV001389302 RCV001508711

NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)

SNV
Germline

Chr13:51944290

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_949421614

3 SubmittersRCV001389303

NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)

SNV
Germline

Chr13:51946315

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_747584649

5 SubmittersRCV001389304 RCV003481106

NM_000053.4(ATP7B):c.2866-2A>C

SNV
Germline

Chr13:51946480

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1377418826

2 SubmittersRCV001384960

NM_000053.4(ATP7B):c.2447+5G>A

SNV
Germline

Chr13:51957511

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1369012080

1 SubmittersRCV001381673

NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter)

SNV
Germline

Chr13:51974034

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_763051801

3 SubmittersRCV001384612

NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter)

SNV
Germline

Chr13:51974073

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2140071850

2 SubmittersRCV001385918

NM_000053.4(ATP7B):c.3747G>A (p.Val1249=)

SNV
Germline

Chr13:51937632

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_572110753

3 SubmittersRCV001414342 RCV003298688

NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)

SNV
Germline

Chr13:51934992

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_745866259

3 SubmittersRCV001473203

NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)

SNV
Germline

Chr13:51941221

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_199924281

6 SubmittersRCV001469712 RCV001579789 RCV001820163

NM_000053.4(ATP7B):c.2731-4A>C

SNV
Germline

Chr13:51949800

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_2139193356

2 SubmittersRCV001459856

NM_000053.4(ATP7B):c.2241C>T (p.Ile747=)

SNV
Germline

Chr13:51958425

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_757991922

2 SubmittersRCV001468675

NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=)

SNV
Germline

Chr13:51968474

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142187604

3 SubmittersRCV001461400 RCV001581143

NM_000053.4(ATP7B):c.3956G>A (p.Arg1319Gln)

SNV
Germline

Chr13:51937341

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_529307157

2 SubmittersRCV001496259

NM_000053.4(ATP7B):c.3465G>T (p.Arg1155Ser)

SNV
Germline

Chr13:51941172

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_201985951

2 SubmittersRCV001492743

NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter)

SNV
Germline

Chr13:51935010

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138414735

4 SubmittersRCV001506991 RCV003992531

NM_000053.4(ATP7B):c.4125-1G>T

SNV
Germline

Chr13:51935030

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1293549383

2 SubmittersRCV001506990

NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr)

SNV
Germline

Chr13:51937559

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138578550

1 SubmittersRCV001507004

NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr)

SNV
Germline

Chr13:51941090

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138775370

1 SubmittersRCV001506989

NM_000053.4(ATP7B):c.3316G>C (p.Val1106Leu)

SNV
Germline

Chr13:51942482

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_541208827

1 SubmittersRCV001507002

NM_000053.4(ATP7B):c.3074T>A (p.Met1025Lys)

SNV
Germline

Chr13:51944278

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1555286633

1 SubmittersRCV001507001

NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg)

SNV
Germline

Chr13:51946285

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2139046115

1 SubmittersRCV001506983

NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu)

SNV
Germline

Chr13:51950340

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_773809011

2 SubmittersRCV001506988

NM_000053.4(ATP7B):c.2506G>A (p.Gly836Arg)

SNV
Germline

Chr13:51950341

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2139228853

1 SubmittersRCV001506999

NM_000053.4(ATP7B):c.2356-2A>G

SNV
Germline

Chr13:51957609

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2139505830

4 SubmittersRCV001506987

NM_000053.4(ATP7B):c.1869+2T>C

SNV
Germline

Chr13:51964870

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2139767694

2 SubmittersRCV001506984

NM_000053.4(ATP7B):c.1658C>A (p.Ala553Glu)

SNV
Germline

Chr13:51968493

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1179062239

1 SubmittersRCV001506985

NM_000053.4(ATP7B):c.1369C>T (p.Gln457Ter)

SNV
Germline

Chr13:51970666

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1951795080

3 SubmittersRCV001506997

NM_000053.4(ATP7B):c.1286-2A>G

SNV
Germline

Chr13:51970751

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2139975409

3 SubmittersRCV001506996

NM_000053.4(ATP7B):c.3089G>A (p.Gly1030Asp)

SNV
Germline

Chr13:51944263

Pathogenic/Likely pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138958110

2 SubmittersRCV001508712 RCV003502595

NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter)

SNV
Germline

Chr13:51968474

Pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_142187604

3 SubmittersRCV001508350 RCV001729928

NM_000053.4(ATP7B):c.3201T>G (p.Ser1067Arg)

SNV
Germline

Chr13:51944151

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138947313

1 SubmittersRCV001527076

NM_000053.4(ATP7B):c.3007G>C (p.Ala1003Pro)

SNV
Germline

Chr13:51946337

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_201497300

1 SubmittersRCV001527074

NM_000053.4(ATP7B):c.2971A>G (p.Thr991Ala)

SNV
Germline

Chr13:51946373

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1476409946

2 SubmittersRCV001527077

NM_000053.4(ATP7B):c.2337G>C (p.Trp779Cys)

SNV
Germline

Chr13:51958329

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_137853282

1 SubmittersRCV001527078

NM_000053.4(ATP7B):c.1811C>A (p.Ala604Asp)

SNV
Germline

Chr13:51964930

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_959916899

1 SubmittersRCV001527075

NM_000053.4(ATP7B):c.1708-34G>A

SNV
Germline

Chr13:51965067

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_780389157

1 SubmittersRCV001527072

NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)

SNV
Germline

Chr13:51960161

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_767218895

5 SubmittersRCV001532934 RCV003481119

NM_000053.4(ATP7B):c.2919G>A (p.Gln973=)

SNV
Germline

Chr13:51946425

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_537498754

2 SubmittersRCV001559287

NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)

SNV
Germline

Chr13:51935629

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_776848753

3 SubmittersRCV001580636

NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser)

SNV
Germline

Chr13:51937326

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_760285767

4 SubmittersRCV001619768

NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe)

SNV
Germline

Chr13:51946420

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_778163447

2 SubmittersRCV001768925 RCV003609187

NM_000053.4(ATP7B):c.3557-1G>C

SNV
Germline

Chr13:51939194

Pathogenic/Likely pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138674428

2 SubmittersRCV001817789 RCV002545181

NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter)

SNV
Germline

Chr13:51950132

Pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_191312027

3 SubmittersRCV001817790 RCV002542703

NM_000053.4(ATP7B):c.2121+1G>A

SNV
Germline

Chr13:51960147

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_751235573

2 SubmittersRCV001823703

NM_000053.4(ATP7B):c.1543+15C>G

SNV
Germline

Chr13:51970477

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

rs_1365158305

2 SubmittersRCV001825125 RCV003772348

NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu)

SNV
Germline

Chr13:51946303

Conflicting classifications of pathogenicity

not specified
Wilson disease

Criteria Provided
Conflicting Classifications

rs_2139048200

2 SubmittersRCV001844588 RCV003502610

NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu)

SNV
Germline

Chr13:51942516

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957397703

2 SubmittersRCV001989496

NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val)

SNV
Germline

Chr13:51949795

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1014184765

2 SubmittersRCV002034064 RCV002454317

NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)

SNV
Germline

Chr13:51949765

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1230241288

5 SubmittersRCV001881506 RCV002261405

NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg)

SNV
Germline

Chr13:51958366

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_776668666

1 SubmittersRCV001991571

NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu)

SNV
Germline

Chr13:51950131

Conflicting classifications of pathogenicity

Wilson disease
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

rs_775553302

2 SubmittersRCV002032183 RCV003923417

NM_000053.4(ATP7B):c.3061-1G>A

SNV
Germline

Chr13:51944292

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_780955130

4 SubmittersRCV002037652

NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter)

SNV
Germline

Chr13:51970696

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_746637821

1 SubmittersRCV001999923

NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val)

SNV
Germline

Chr13:51935642

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1956914257

2 SubmittersRCV001991118

NM_000053.4(ATP7B):c.2303C>G (p.Pro768Arg)

SNV
Germline

Chr13:51958363

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1057516844

1 SubmittersRCV001985854

NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter)

SNV
Germline

Chr13:51937607

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1566444909

1 SubmittersRCV001951859

NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu)

SNV
Germline

Chr13:51939062

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_200911496

1 SubmittersRCV002019460

NM_000053.4(ATP7B):c.2448G>T (p.Arg816Ser)

SNV
Germline

Chr13:51950399

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1957924589

1 SubmittersRCV001950954

NM_000053.4(ATP7B):c.2121+3A>T

SNV
Germline

Chr13:51960145

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1248002612

1 SubmittersRCV001970185

NM_000053.4(ATP7B):c.1707+1G>A

SNV
Germline

Chr13:51968443

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_377001615

3 SubmittersRCV002030308

NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala)

SNV
Germline

Chr13:51950275

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2139220914

1 SubmittersRCV002019924

NM_000053.4(ATP7B):c.2122-1G>C

SNV
Germline

Chr13:51958545

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1319653818

1 SubmittersRCV001976500

NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu)

SNV
Germline

Chr13:51958534

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_2139545313

2 SubmittersRCV001976510

NM_000053.4(ATP7B):c.4022G>T (p.Gly1341Val)

SNV
Germline

Chr13:51935695

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_779494870

2 SubmittersRCV002009173

NM_000053.4(ATP7B):c.3280T>C (p.Phe1094Leu)

SNV
Germline

Chr13:51942518

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1397083296

1 SubmittersRCV001886445

NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg)

SNV
Germline

Chr13:51946346

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_751078884

3 SubmittersRCV001980135

NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter)

SNV
Germline

Chr13:51949720

Pathogenic

Wilson disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_776002066

4 SubmittersRCV001997260 RCV002441097

NM_000053.4(ATP7B):c.2730+2T>C

SNV
Germline

Chr13:51950005

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2139201007

1 SubmittersRCV002025718

NM_000053.4(ATP7B):c.4022-3C>T

SNV
Germline

Chr13:51935698

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_531487054

2 SubmittersRCV001891457

NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr)

SNV
Germline

Chr13:51937338

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_548512104

3 SubmittersRCV002019163

NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)

SNV
Germline

Chr13:51958483

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

rs_760713333

4 SubmittersRCV001994832 RCV002282667

NM_000053.4(ATP7B):c.1543+1G>C

SNV
Germline

Chr13:51970491

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1360279134

2 SubmittersRCV002037934

NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys)

SNV
Germline

Chr13:51949710

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517310

2 SubmittersRCV001916111

NM_000053.4(ATP7B):c.3244-1G>A

SNV
Germline

Chr13:51942555

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138859417

1 SubmittersRCV001933665

NM_000053.4(ATP7B):c.404C>G (p.Ser135Ter)

SNV
Germline

Chr13:51974816

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2140103116

1 SubmittersRCV001942120

NM_000053.4(ATP7B):c.1544-1G>A

SNV
Germline

Chr13:51968608

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1951686649

1 SubmittersRCV001995668

NM_000053.4(ATP7B):c.2447+1G>A

SNV
Germline

Chr13:51957515

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1958431105

2 SubmittersRCV001939532

NM_000053.4(ATP7B):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr13:51974499

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2140091906

1 SubmittersRCV001899589

NM_000053.4(ATP7B):c.3270C>G (p.Tyr1090Ter)

SNV
Germline

Chr13:51942528

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138857747

1 SubmittersRCV001951276

NM_000053.4(ATP7B):c.2731-1G>A

SNV
Germline

Chr13:51949797

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2139193234

1 SubmittersRCV001972470

NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly)

SNV
Germline

Chr13:51937339

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138561490

1 SubmittersRCV002038013

NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala)

SNV
Germline

Chr13:51941200

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138787759

1 SubmittersRCV002038029

NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)

SNV
Germline

Chr13:51934959

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138407151

2 SubmittersRCV001951049

NM_000053.4(ATP7B):c.2906G>C (p.Arg969Pro)

SNV
Germline

Chr13:51946438

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_121907996

1 SubmittersRCV002036164

NM_000053.4(ATP7B):c.3304A>T (p.Ile1102Phe)

SNV
Germline

Chr13:51942494

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138854011

1 SubmittersRCV001995872

NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln)

SNV
Germline

Chr13:51937638

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767464491

2 SubmittersRCV001956421 RCV002261432

NM_000053.4(ATP7B):c.3584C>T (p.Ala1195Val)

SNV
Germline

Chr13:51939166

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2138671758

1 SubmittersRCV002018502

NM_000053.4(ATP7B):c.1493C>T (p.Thr498Ile)

SNV
Germline

Chr13:51970542

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2139962593

1 SubmittersRCV001996052

NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu)

SNV
Germline

Chr13:51942516

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1957397703

1 SubmittersRCV001951314

NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn)

SNV
Germline

Chr13:51950362

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_181388674

1 SubmittersRCV002008788

NM_000053.4(ATP7B):c.1537G>T (p.Glu513Ter)

SNV
Germline

Chr13:51970498

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2139960322

1 SubmittersRCV001902199

NM_000053.4(ATP7B):c.1101C>T (p.Gly367=)

SNV
Germline

Chr13:51974119

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_759359836

2 SubmittersRCV001958284

NM_000053.4(ATP7B):c.1947-1G>C

SNV
Germline

Chr13:51960323

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1405260211

1 SubmittersRCV002029202

NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)

SNV
Germline

Chr13:51950075

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1455758826

4 SubmittersRCV002023924 RCV002509746 RCV002548851

NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu)

SNV
Germline

Chr13:51958371

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_774769813

1 SubmittersRCV001984040

NM_000053.4(ATP7B):c.1286-1G>T

SNV
Germline

Chr13:51970750

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2139975355

1 SubmittersRCV002012409

NM_000053.4(ATP7B):c.3417A>C (p.Ala1139=)

SNV
Germline

Chr13:51941220

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_769949202

4 SubmittersRCV002200979 RCV003389903 RCV003348814

NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)

SNV
Germline

Chr13:51944135

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_376112375

3 SubmittersRCV002077425

NM_000053.4(ATP7B):c.1176G>T (p.Val392=)

SNV
Germline

Chr13:51974044

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_1951977983

2 SubmittersRCV002084127

NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile)

SNV
Germline

Chr13:51937570

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_121907990

2 SubmittersRCV002248978

NM_000053.4(ATP7B):c.3412+1G>C

SNV
Germline

Chr13:51942385

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1957388064

1 SubmittersRCV002251695

NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr)

SNV
Germline

Chr13:51958367

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

rs_2139531503

3 SubmittersRCV002254510 RCV003094178

NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter)

SNV
Unknown

Chr13:51974807

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309632

NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)

SNV
Germline

Chr13:51937622

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002308044

NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)

SNV
Unknown

Chr13:51942486

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309365

NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter)

SNV
Unknown

Chr13:51942533

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002306926

NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter)

SNV
Unknown

Chr13:51970538

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002310150

NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter)

SNV
Unknown

Chr13:51970570

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002310276

NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly)

SNV
Germline

Chr13:51942425

Conflicting classifications of pathogenicity

Inborn genetic diseases
Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002451759 RCV003102359

NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)

SNV
Germline

Chr13:51975012

Pathogenic/Likely pathogenic

Inborn genetic diseases
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002424022 RCV003464547

NM_000053.4(ATP7B):c.4230G>A (p.Trp1410Ter)

SNV
Germline

Chr13:51934924

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003062589

NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro)

SNV
Germline

Chr13:51937332

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003062590 RCV003481368

NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)

SNV
Germline

Chr13:51937385

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003062591

NM_000053.4(ATP7B):c.3010C>T (p.Gln1004Ter)

SNV
Germline

Chr13:51946334

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003041192

NM_000053.4(ATP7B):c.2963G>T (p.Gly988Val)

SNV
Germline

Chr13:51946381

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003041193

NM_000053.4(ATP7B):c.2957C>T (p.Ser986Phe)

SNV
Germline

Chr13:51946387

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003062595

NM_000053.4(ATP7B):c.2763T>A (p.Ser921Arg)

SNV
Germline

Chr13:51949764

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003062596

NM_000053.4(ATP7B):c.2561A>G (p.Glu854Gly)

SNV
Germline

Chr13:51950286

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003058423

NM_000053.4(ATP7B):c.2527G>A (p.Gly843Arg)

SNV
Germline

Chr13:51950320

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003062599

NM_000053.4(ATP7B):c.2185A>G (p.Met729Val)

SNV
Germline

Chr13:51958481

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003041196

NM_000053.4(ATP7B):c.1946+1G>A

SNV
Germline

Chr13:51961836

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003062602

NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His)

SNV
Germline

Chr13:51968557

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003062603

NM_000053.4(ATP7B):c.3413-20C>G

SNV
Germline

Chr13:51941244

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003068971

NM_000053.4(ATP7B):c.2485G>C (p.Asp829His)

SNV
Germline

Chr13:51950362

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003061598

NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)

SNV
Germline

Chr13:51944132

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003091933

NM_000053.4(ATP7B):c.2071G>C (p.Gly691Arg)

SNV
Germline

Chr13:51960198

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002619246

NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp)

SNV
Germline

Chr13:51944248

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002632695

NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val)

SNV
Germline

Chr13:51950361

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002620988

NM_000053.4(ATP7B):c.4021+1G>A

SNV
Germline

Chr13:51937275

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003111923

NM_000053.4(ATP7B):c.2663C>T (p.Thr888Ile)

SNV
Germline

Chr13:51950074

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003111991

NM_000053.4(ATP7B):c.3089G>T (p.Gly1030Val)

SNV
Germline

Chr13:51944263

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003112286

NM_000053.4(ATP7B):c.2204T>G (p.Leu735Arg)

SNV
Germline

Chr13:51958462

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003112288

NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)

SNV
Germline

Chr13:51974966

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003119308

NM_000053.4(ATP7B):c.235A>C (p.Arg79=)

SNV
Germline

Chr13:51974985

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002626272

NM_000053.4(ATP7B):c.2680A>G (p.Thr894Ala)

SNV
Germline

Chr13:51950057

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002631301

NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)

SNV
Germline

Chr13:51934925

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002618588

NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter)

SNV
Germline

Chr13:51960320

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002646181

NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp)

SNV
Germline

Chr13:51942502

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002824276

NM_000053.4(ATP7B):c.51+2T>C

SNV
Germline

Chr13:52011285

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002802208

NM_000053.4(ATP7B):c.903T>G (p.Tyr301Ter)

SNV
Germline

Chr13:51974317

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002843912

NM_000053.4(ATP7B):c.3284A>G (p.Gln1095Arg)

SNV
Germline

Chr13:51942514

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002858414

NM_000053.4(ATP7B):c.4124+1G>A

SNV
Germline

Chr13:51935592

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002889935

NM_000053.4(ATP7B):c.3557-1G>A

SNV
Germline

Chr13:51939194

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002918406

NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)

SNV
Germline

Chr13:51958484

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002949543

NM_000053.4(ATP7B):c.3053C>A (p.Ala1018Glu)

SNV
Germline

Chr13:51946291

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003002678

NM_000053.4(ATP7B):c.2762G>T (p.Ser921Ile)

SNV
Germline

Chr13:51949765

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003002679

NM_000053.4(ATP7B):c.2986A>G (p.Met996Val)

SNV
Germline

Chr13:51946358

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002996807

NM_000053.4(ATP7B):c.2108G>T (p.Cys703Phe)

SNV
Germline

Chr13:51960161

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV002996745

NM_000053.4(ATP7B):c.2851C>T (p.Gln951Ter)

SNV
Germline

Chr13:51949676

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003022482

NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)

SNV
Germline

Chr13:51946345

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003045696

NM_000053.4(ATP7B):c.3206A>T (p.His1069Leu)

SNV
Germline

Chr13:51944146

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003059221

NM_000053.4(ATP7B):c.2578G>T (p.Glu860Ter)

SNV
Germline

Chr13:51950159

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003046592

NM_000053.4(ATP7B):c.1138A>C (p.Met380Leu)

SNV
Germline

Chr13:51974082

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003036059 RCV003348983

NM_000053.4(ATP7B):c.3458G>A (p.Trp1153Ter)

SNV
Germline

Chr13:51941179

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003136663

NM_000053.4(ATP7B):c.2356-2A>T

SNV
Germline

Chr13:51957609

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003226770

NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu)

SNV
Germline

Chr13:51950069

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003233350

NM_000053.4(ATP7B):c.3227C>T (p.Thr1076Ile)

SNV
Unknown

Chr13:51944125

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003314377

NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)

SNV
Germline

Chr13:51937283

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003322655

NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)

SNV
Germline

Chr13:51942487

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003388390

NM_000053.4(ATP7B):c.3904-1G>A

SNV
Germline

Chr13:51937394

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003445295

NM_000053.4(ATP7B):c.306T>A (p.Tyr102Ter)

SNV
Unknown

Chr13:51974914

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464951

NM_000053.4(ATP7B):c.2307G>T (p.Met769Ile)

SNV
Unknown

Chr13:51958359

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464954

NM_000053.4(ATP7B):c.4124+1G>T

SNV
Unknown

Chr13:51935592

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464956

NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)

SNV
Unknown

Chr13:51935633

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464958

NM_000053.4(ATP7B):c.3704G>A (p.Gly1235Asp)

SNV
Unknown

Chr13:51937675

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464961

NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)

SNV
Unknown

Chr13:51937290

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464963

NM_000053.4(ATP7B):c.2355+1G>A

SNV
Unknown

Chr13:51958310

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464965

NM_000053.4(ATP7B):c.52-2A>G

SNV
Unknown

Chr13:51975170

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464968

NM_000053.4(ATP7B):c.2407G>A (p.Ala803Thr)

SNV
Unknown

Chr13:51957556

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464927

NM_000053.4(ATP7B):c.51+2T>G

SNV
Unknown

Chr13:52011285

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464928

NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter)

SNV
Unknown

Chr13:51960315

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464930

NM_000053.4(ATP7B):c.1544-2A>G

SNV
Germline

Chr13:51968609

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464932

NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)

SNV
Unknown

Chr13:51939188

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464935

NM_000053.4(ATP7B):c.1543+1G>A

SNV
Germline

Chr13:51970491

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464939

NM_000053.4(ATP7B):c.2121+1G>T

SNV
Germline

Chr13:51960147

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464941

NM_000053.4(ATP7B):c.3044T>C (p.Leu1015Pro)

SNV
Unknown

Chr13:51946300

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464942

NM_000053.4(ATP7B):c.3200G>A (p.Ser1067Asn)

SNV
Unknown

Chr13:51944152

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464946

NM_000053.4(ATP7B):c.2447+5G>T

SNV
Unknown

Chr13:51957511

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003464948

NM_000053.4(ATP7B):c.1870-1G>C

SNV
Germline

Chr13:51961914

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003486306

NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter)

SNV
Germline

Chr13:51934845

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004011346

NM_000053.4(ATP7B):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr13:51970558

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003502863

NM_000053.4(ATP7B):c.3058A>T (p.Lys1020Ter)

SNV
Germline

Chr13:51946286

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003502841

NM_000053.4(ATP7B):c.2125C>T (p.Leu709Phe)

SNV
Germline

Chr13:51958541

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003503862

NM_000053.4(ATP7B):c.570T>A (p.Tyr190Ter)

SNV
Germline

Chr13:51974650

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003503669

NM_000053.4(ATP7B):c.4152T>G (p.Tyr1384Ter)

SNV
Germline

Chr13:51935002

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003502202

NM_000053.4(ATP7B):c.3938T>C (p.Leu1313Pro)

SNV
Germline

Chr13:51937359

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003504571

NM_000053.4(ATP7B):c.3122G>C (p.Arg1041Pro)

SNV
Germline

Chr13:51944230

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003504573

NM_000053.4(ATP7B):c.3061-3C>A

SNV
Germline

Chr13:51944294

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003504574

NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)

SNV
Germline

Chr13:51960149

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003504575

NM_000053.4(ATP7B):c.462C>A (p.Cys154Ter)

SNV
Germline

Chr13:51974758

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003502178

NM_000053.4(ATP7B):c.3283C>T (p.Gln1095Ter)

SNV
Germline

Chr13:51942515

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003503301

NM_000053.4(ATP7B):c.2135G>A (p.Trp712Ter)

SNV
Germline

Chr13:51958531

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003503968

NM_000053.4(ATP7B):c.3815C>A (p.Ser1272Tyr)

SNV
Germline

Chr13:51937564

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003609362

NM_000053.4(ATP7B):c.4356G>A (p.Trp1452Ter)

SNV
Germline

Chr13:51934798

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003609524

NM_000053.4(ATP7B):c.3532A>C (p.Thr1178Pro)

SNV
Germline

Chr13:51941105

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003609543

NM_000053.4(ATP7B):c.52-1G>A

SNV
Germline

Chr13:51975169

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003608669

NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter)

SNV
Germline

Chr13:51934799

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003608865

NM_000053.4(ATP7B):c.3225C>T (p.Val1075=)

SNV
Germline

Chr13:51944127

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003609085

NM_000053.4(ATP7B):c.2763T>G (p.Ser921Arg)

SNV
Germline

Chr13:51949764

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003610662

NM_000053.4(ATP7B):c.1612C>T (p.Gln538Ter)

SNV
Germline

Chr13:51968539

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003610723

NM_000053.4(ATP7B):c.783G>A (p.Leu261=)

SNV
Germline

Chr13:51974437

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003610749

NM_000053.4(ATP7B):c.52-13C>A

SNV
Germline

Chr13:51975181

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003609995

NM_000053.4(ATP7B):c.903T>C (p.Tyr301=)

SNV
Germline

Chr13:51974317

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003609989

NM_000053.4(ATP7B):c.1869+1G>A

SNV
Germline

Chr13:51964871

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003842962

NM_000053.4(ATP7B):c.3413-11C>A

SNV
Germline

Chr13:51941235

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003870527

NM_000053.4(ATP7B):c.2846T>G (p.Val949Gly)

SNV
Germline

Chr13:51949681

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003886907 RCV004006180

NM_000053.4(ATP7B):c.2621C>G (p.Ala874Gly)

SNV
Germline

Chr13:51950116

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003990492

NM_000053.4(ATP7B):c.254G>A (p.Gly85Asp)

SNV
Germline

Chr13:51974966

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003990607

NM_000053.4(ATP7B):c.3412G>C (p.Asp1138His)

SNV
Unknown

Chr13:51942386

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003991515

NM_000053.4(ATP7B):c.4103T>C (p.Leu1368Pro)

SNV
Germline

Chr13:51935614

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV003991656

NM_000053.4(ATP7B):c.3699+2T>C

SNV
Germline

Chr13:51939049

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004013946

NM_000053.4(ATP7B):c.2827G>C (p.Gly943Arg)

SNV
Germline

Chr13:51949700

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004012204

NM_000053.4(ATP7B):c.2223T>G (p.Tyr741Ter)

SNV
Germline

Chr13:51958443

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004016536

NM_000053.4(ATP7B):c.2366C>G (p.Ser789Ter)

SNV
Germline

Chr13:51957597

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004016546

NM_000053.4(ATP7B):c.903T>A (p.Tyr301Ter)

SNV
Germline

Chr13:51974317

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004018127

NM_000053.4(ATP7B):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr13:51974799

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004018128

NM_000053.4(ATP7B):c.2731-2A>T

SNV
Germline

Chr13:51949798

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004560369

NM_000053.4(ATP7B):c.561T>A (p.Tyr187Ter)

SNV
Germline

Chr13:51974659

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004576173

NM_000053.4(ATP7B):c.3751A>T (p.Lys1251Ter)

SNV
Germline

Chr13:51937628

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004576174

NM_000053.4(ATP7B):c.364G>T (p.Glu122Ter)

SNV
Germline

Chr13:51974856

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004576175

NM_000053.4(ATP7B):c.4049T>C (p.Leu1350Pro)

SNV
Unknown

Chr13:51935668

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004573939

NM_000053.4(ATP7B):c.1707+5G>A

SNV
Unknown

Chr13:51968439

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004573950

NM_000053.4(ATP7B):c.2448-1G>A

SNV
Unknown

Chr13:51950400

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004573952

NM_000053.4(ATP7B):c.3445G>A (p.Gly1149Arg)

SNV
Germline

Chr13:51941192

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004577239