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	43 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	19 SubmittersRCV000004053 RCV001507825
NM_000053.4(ATP7B):c.1708-1G>C	SNV Germline	Chr13:51965034	Pathogenic	Wilson disease Condition: not provided Developmental and epileptic encephalopathy 93	Criteria Provided Multiple Submitters No Conflicts	CA252891	rs_137853280	18 SubmittersRCV000004054 RCV001579816 RCV005411279
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	24 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	24 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	11 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	15 SubmittersRCV000004060 RCV001091638
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)	SNV Germline	Chr13:51949772	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252895	rs_121907993	12 SubmittersRCV000004061 RCV001818123 RCV004678595
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	SNV Germline	Chr13:51937570	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252896	rs_121907990	24 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 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252897	rs_121907996	21 SubmittersRCV000004064 RCV000270891 RCV003904804 RCV005512700
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	6 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	23 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	20 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	16 SubmittersRCV000004068 RCV000421016
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)	SNV Germline	Chr13:51958543	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252902	rs_121908000	14 SubmittersRCV000004069 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	9 SubmittersRCV000004070
NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg)	SNV Germline	Chr13:51941111	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA351338	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	19 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	11 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	20 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 Hearing loss, autosomal recessive 109	Criteria Provided Multiple Submitters No Conflicts	CA220308	rs_72552255	22 SubmittersRCV000029359 RCV000790662 RCV002433469 RCV003924861 RCV005411298
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 not specified	Criteria Provided Conflicting Classifications	CA260132	rs_193922104	11 SubmittersRCV000029360 RCV000726685 RCV002433470 RCV003407364 RCV005406760
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	SNV Germline	Chr13:51946372	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA090896	rs_41292782	19 SubmittersRCV000029361 RCV000255583 RCV002513236 RCV003904863
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	SNV Germline	Chr13:51946299	Conflicting classifications of pathogenicity	Wilson disease not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA171306	rs_1801248	23 SubmittersRCV000029365 RCV000145268 RCV002444441 RCV006445472
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	16 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	12 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	11 SubmittersRCV000029374 RCV000413521
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	SNV Germline	Chr13:51937342	Pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA260148	rs_193922109	22 SubmittersRCV000029377 RCV000494120 RCV002371783 RCV004751225
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	12 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	20 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	Condition: not provided Wilson disease not specified	Criteria Provided Conflicting Classifications	CA220306	rs_187046823	13 SubmittersRCV000487499 RCV000670794 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	13 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	12 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	16 SubmittersRCV000078053 RCV000490530 RCV002354273 RCV003333954
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)	SNV Germline	Chr13:51974592	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease ATP7B-related disorder not specified	Criteria Provided Conflicting Classifications	CA220311	rs_61733680	11 SubmittersRCV000436240 RCV001001253 RCV003935015 RCV005237518
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)	SNV Germline	Chr13:51974305	Pathogenic/Likely pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA220313	rs_398123137	6 SubmittersRCV000175511 RCV001201260
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	SNV Germline	Chr13:51958538	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA270731	rs_137853285	22 SubmittersRCV000144365 RCV000497757
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	SNV Germline	Chr13:51958334	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA270733	rs_137853284	14 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	19 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	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA271166	rs_201738967	23 SubmittersRCV000145251 RCV000416017 RCV002514798 RCV004751288
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	SNV Germline	Chr13:51961906	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA271167	rs_587783299	19 SubmittersRCV000145253 RCV000415842 RCV003162602 RCV004751289
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	7 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 Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA271169	rs_72552259	22 SubmittersRCV000145256 RCV000415012 RCV000498564 RCV000855573 RCV002415630 RCV005887041
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	8 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	15 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	29 SubmittersRCV000145263 RCV000413599 RCV000623574 RCV003415974
NM_000053.4(ATP7B):c.2865+1G>A	SNV Germline	Chr13:51949661	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271173	rs_587783306	8 SubmittersRCV000145266 RCV004700462
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	10 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 not specified	Criteria Provided Conflicting Classifications	CA271175	rs_372456815	12 SubmittersRCV000145272 RCV001707533 RCV002321620 RCV005431488
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	8 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	8 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	5 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	12 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 ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA271180	rs_181250704	20 SubmittersRCV000309770 RCV000587055 RCV000763902 RCV002252001 RCV002326851 RCV004751290
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	13 SubmittersRCV000148375 RCV001091634
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	SNV Germline	Chr13:51935629	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	15 SubmittersRCV000169321 RCV000726684
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	SNV Germline	Chr13:51937484	Pathogenic/Likely pathogenic	Wilson disease ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274423	rs_749472361	13 SubmittersRCV000169572 RCV004751319
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	15 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	12 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 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA274325	rs_184388696	10 SubmittersRCV000169452 RCV003159558 RCV005889646
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	SNV Germline	Chr13:51941081	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274098	rs_786204547	16 SubmittersRCV000169260 RCV002254281 RCV002453567
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	11 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	17 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	11 SubmittersRCV000169142
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	SNV Germline	Chr13:51942535	Pathogenic	Wilson disease Condition: not provided ATP7B-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274082	rs_753250853	15 SubmittersRCV000169240 RCV001557295 RCV003907530 RCV005749518
NM_000053.4(ATP7B):c.3244-2A>G	SNV Germline	Chr13:51942556	Pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274176	rs_786204584	9 SubmittersRCV000169327 RCV003480072 RCV004730892
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	13 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	17 SubmittersRCV000169109 RCV001508716 RCV001814079
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	SNV Germline	Chr13:51946337	Pathogenic	Wilson disease Epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273980	rs_201497300	17 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	17 SubmittersRCV000169179 RCV000362786 RCV002433726
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	SNV Germline	Chr13:51949699	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274329	rs_779323689	12 SubmittersRCV000169455 RCV001531800
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	SNV Germline	Chr13:51949723	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273878	rs_750019452	19 SubmittersRCV000169002 RCV001509440 RCV004751314
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	19 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	13 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	8 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	12 SubmittersRCV000169233 RCV000333003
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	SNV Germline	Chr13:51957580	Pathogenic/Likely pathogenic	Wilson disease Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA273992	rs_751710854	14 SubmittersRCV000169151 RCV004813069
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 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA274399	rs_759749626	9 SubmittersRCV000169532 RCV003480073 RCV005889648
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	SNV Germline	Chr13:51974407	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided Intellectual disability, Wolff type ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274145	rs_572147914	24 SubmittersRCV000169298 RCV000724151 RCV001823123 RCV004751316
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)	SNV Germline	Chr13:51974889	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA274096	rs_774221179	7 SubmittersRCV000169259
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)	SNV Germline	Chr13:51974906	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	5 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	11 SubmittersRCV000174213 RCV000587605 RCV001081569 RCV003955024
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)	SNV Germline	Chr13:51941132	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA277193	rs_749085322	9 SubmittersRCV000193725 RCV004791316 RCV006456822
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	8 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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6988719	rs_145887771	10 SubmittersRCV000251888 RCV001001299 RCV003391012 RCV002450763
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	9 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6988992	rs_570594838	13 SubmittersRCV000245085 RCV000907046 RCV001699268 RCV004965354
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	18 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	4 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 not specified Wilson disease	Criteria Provided Conflicting Classifications	CA6988994	rs_539585071	10 SubmittersRCV000327770 RCV001582911 RCV001242406
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 not specified ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6988855	rs_116587608	15 SubmittersRCV000725741 RCV001080148 RCV002436109 RCV002509346 RCV003947909
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	9 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	10 SubmittersRCV000372640 RCV000780935 RCV003151766
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	SNV Germline	Chr13:51944231	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6988802	rs_746485916	14 SubmittersRCV000308454 RCV003223635 RCV004751452
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 Uterine corpus endometrial carcinoma Ovarian serous cystadenocarcinoma Thyroid cancer, nonmedullary, 1 Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA6988981	rs_200996053	14 SubmittersRCV000261389 RCV000859330 RCV003422258 RCV005893237 RCV005893235 RCV005893236 RCV005893234
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)	SNV Germline	Chr13:51973942	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989402	rs_143556945	17 SubmittersRCV000306439 RCV000610248 RCV000873189 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	9 SubmittersRCV000271169 RCV001711923 RCV003930333
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)	SNV Germline	Chr13:51944170	Pathogenic	Wilson disease not specified Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6988785	rs_764131178	20 SubmittersRCV000395391 RCV000506750 RCV001558379 RCV002321983
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	8 SubmittersRCV000396679 RCV001579443
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)	SNV Germline	Chr13:51974098	Conflicting classifications of pathogenicity	Wilson disease ATP7B-related disorder Inborn genetic diseases Condition: not provided Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA6989439	rs_201254466	11 SubmittersRCV000277263 RCV003930334 RCV004678673 RCV004719091 RCV005893238
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	7 SubmittersRCV000313711 RCV000425182 RCV001269200
NM_000053.4(ATP7B):c.51+4A>T	SNV Germline	Chr13:52011283	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989708	rs_369488210	22 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 ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6988609	rs_200911496	19 SubmittersRCV000331049 RCV000455157 RCV000757022 RCV002522293 RCV004751451
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	SNV Germline	Chr13:51942402	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6988720	rs_370947152	11 SubmittersRCV000395395 RCV001356076 RCV002450860 RCV002469127
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	7 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	7 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	10 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	6 SubmittersRCV000270155 RCV002469126
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)	SNV Germline	Chr13:51942523	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988748	rs_368545738	11 SubmittersRCV000343352 RCV002261043
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)	SNV Germline	Chr13:51944247	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6988808	rs_200324179	9 SubmittersRCV000363247 RCV000605266 RCV004597776 RCV004751453
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	SNV Germline	Chr13:51949772	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6988915	rs_121907993	17 SubmittersRCV000388607 RCV000999521 RCV004751454
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	5 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	11 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.3317T>A (p.Val1106Asp)	SNV Germline	Chr13:51942481	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988740	rs_775541743	6 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	9 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	6 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	8 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	6 SubmittersRCV000410970
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)	SNV Germline	Chr13:51958509	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	4 SubmittersRCV000411333
NM_000053.4(ATP7B):c.1708-2A>G	SNV Germline	Chr13:51965035	Pathogenic	Wilson disease	Criteria Provided Single Submitter	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	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA16041678	rs_1057516305	3 SubmittersRCV000409337
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)	SNV Germline	Chr13:51975117	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA16041683	rs_1057516516	2 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	5 SubmittersRCV000411235
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)	SNV Unknown	Chr13:51946381	Likely pathogenic	Kayser-Fleischer ring Hand tremor 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 Wilson disease	Criteria Provided Conflicting Classifications	CA6988773	rs_373193482	13 SubmittersRCV000441386 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	5 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	9 SubmittersRCV000424597 RCV000959396 RCV003352863
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	5 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	13 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	7 SubmittersRCV000434557 RCV000780936
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)	SNV Germline	Chr13:51961861	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989172	rs_186924074	15 SubmittersRCV000587060 RCV000631248 RCV001263514 RCV002525825
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.3999G>A (p.Leu1333=)	SNV Germline	Chr13:51937298	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6988521	rs_186435141	2 SubmittersRCV000487838 RCV005056064
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	4 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	15 SubmittersRCV000495835 RCV003480655
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)	SNV Germline	Chr13:51974873	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease ATP7B-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989581	rs_199773340	14 SubmittersRCV000755833 RCV001239682 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	8 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	13 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	18 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	5 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	11 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	5 SubmittersRCV000548917 RCV003480668
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val)	SNV Germline	Chr13:51935653	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA388020155	rs_1305262063	2 SubmittersRCV003609157 RCV005898601
NM_000053.4(ATP7B):c.3556+1G>T	SNV Germline	Chr13:51941080	Pathogenic/Likely pathogenic	Wilson disease Lung cancer	Criteria Provided Multiple Submitters No Conflicts	CA388025828	rs_184388696	5 SubmittersRCV000587514 RCV005898600
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	8 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	6 SubmittersRCV000589178
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)	SNV Germline	Chr13:51970620	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6989354	rs_771789585	6 SubmittersRCV000586062 RCV000822876
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	5 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	11 SubmittersRCV000588787 RCV003480706
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)	SNV Germline	Chr13:51970744	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989382	rs_145173864	7 SubmittersRCV000589895 RCV001459906 RCV005502840
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	13 SubmittersRCV000674801 RCV002261126
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)	SNV Germline	Chr13:51960276	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease not specified Inborn genetic diseases ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6989142	rs_146303208	15 SubmittersRCV000587250 RCV001001851 RCV001003423 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 not specified	Criteria Provided Conflicting Classifications	CA6989561	rs_200606656	10 SubmittersRCV000589823 RCV001111262 RCV002530887 RCV006459630
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	8 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	6 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	3 SubmittersRCV000596907 RCV004002461
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)	SNV Germline	Chr13:51974895	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989584	rs_751920801	9 SubmittersRCV000603728 RCV000612067 RCV001726257 RCV002325149
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	5 SubmittersRCV000604203 RCV000925140
NM_000053.4(ATP7B):c.1285+5G>T	SNV Germline	Chr13:51973930	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Wilson disease ATP7B-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA6989401	rs_370579582	20 SubmittersRCV000624233 RCV000996144 RCV001004593 RCV003980208 RCV005900080
NM_000053.4(ATP7B):c.1911C>T (p.Asn637=)	SNV Germline	Chr13:51961872	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989176	rs_770640457	2 SubmittersRCV000631242
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	6 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	7 SubmittersRCV000631234
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)	SNV Germline	Chr13:51935654	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388020160	rs_1555282751	5 SubmittersRCV000670965
NM_000053.4(ATP7B):c.4022-2A>C	SNV Germline	Chr13:51935697	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388020316	rs_1555282816	3 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	CA6988552	rs_776300396	8 SubmittersRCV000669064 RCV001531798
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)	SNV Germline	Chr13:51937516	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA6988555	rs_373748155	6 SubmittersRCV000670692 RCV000779812
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)	SNV Germline	Chr13:51937516	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388021569	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	CA388021725	rs_755202606	5 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	CA6988563	rs_778914828	4 SubmittersRCV000668962
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)	SNV Germline	Chr13:51937612	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA388022193	rs_1555283946	3 SubmittersRCV000673283 RCV005240446
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)	SNV Germline	Chr13:51937657	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388022524	rs_1555283994	3 SubmittersRCV000668265
NM_000053.4(ATP7B):c.3700-1G>A	SNV Germline	Chr13:51937680	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388022674	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	CA6988608	rs_568009639	8 SubmittersRCV000670901
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)	SNV Germline	Chr13:51941131	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388026285	rs_1555285311	2 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	CA6988749	rs_778825095	8 SubmittersRCV000668718 RCV000757021 RCV000779813 RCV002531207
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)	SNV Germline	Chr13:51942532	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388028869	rs_1555285911	4 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	CA388029904	rs_1555286478	7 SubmittersRCV000665474 RCV001508708
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)	SNV Germline	Chr13:51946366	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6988850	rs_200290721	13 SubmittersRCV000670460 RCV001310697 RCV004026114
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)	SNV Germline	Chr13:51946405	Pathogenic/Likely pathogenic	Wilson disease ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250082222	rs_1038582488	8 SubmittersRCV000672631 RCV003420191
NM_000053.4(ATP7B):c.2356-1G>A	SNV Germline	Chr13:51957608	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388020428	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	CA6989057	rs_751798708	6 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	CA388023486	rs_1555291285	7 SubmittersRCV000666574
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)	SNV Germline	Chr13:51960269	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388025664	rs_1474837260	3 SubmittersRCV000672351
NM_000053.4(ATP7B):c.1544-2A>C	SNV Unknown	Chr13:51968609	Likely pathogenic	Wilson disease	No Assertion Criteria Provided	CA388034546	rs_1555294398	1 SubmittersRCV000669421
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	SNV Germline	Chr13:51937595	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988569	rs_769484789	10 SubmittersRCV000665788 RCV005054237
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	SNV Germline	Chr13:51939088	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388023832	rs_1486594906	5 SubmittersRCV000667577
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)	SNV Germline	Chr13:51939112	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388023996	rs_1555284582	5 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	CA6988776	rs_748819198	8 SubmittersRCV000674164 RCV003480757
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg)	SNV Unknown	Chr13:51944278	Likely pathogenic	Wilson disease	No Assertion Criteria Provided	CA388030694	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	CA250082177	rs_199623434	5 SubmittersRCV000672021
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)	SNV Germline	Chr13:51949775	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA250084943	rs_540935874	7 SubmittersRCV000667455 RCV005243333
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	CA6988979	rs_777629392	8 SubmittersRCV000670079 RCV001509442
NM_000053.4(ATP7B):c.2356-1G>C	SNV Germline	Chr13:51957608	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388020427	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	CA388023303	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	CA388024694	rs_1555291801	8 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	CA388040975	rs_1555296356	5 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	CA388042708	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	CA388021893	rs_758355520	6 SubmittersRCV000668789
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)	SNV Germline	Chr13:51944197	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988793	rs_778543794	5 SubmittersRCV000671512 RCV004702300
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	CA6988839	rs_751078884	8 SubmittersRCV000673544 RCV003319396
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)	SNV Germline	Chr13:51946360	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6988847	rs_777791532	3 SubmittersRCV000672990
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter)	SNV Unknown	Chr13:51949784	Likely pathogenic	Wilson disease	No Assertion Criteria Provided	CA388033901	rs_1555288479	1 SubmittersRCV000671014
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)	SNV Germline	Chr13:51950117	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Single Submitter	CA250085276	rs_376355660	2 SubmittersRCV000674734 RCV004792368
NM_000053.4(ATP7B):c.2575+5G>C	SNV Germline	Chr13:51950267	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA250058550	rs_551030054	3 SubmittersRCV000672253
NM_000053.4(ATP7B):c.2575+1G>A	SNV Germline	Chr13:51950271	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388015596	rs_766149114	3 SubmittersRCV000673153
NM_000053.4(ATP7B):c.2447+2T>G	SNV Unknown	Chr13:51957514	Likely pathogenic	Wilson disease	No Assertion Criteria Provided	CA388020076	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	CA388020209	rs_770020484	4 SubmittersRCV000670601
NM_000053.4(ATP7B):c.2355+4A>G	SNV Germline	Chr13:51958307	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6989055	rs_776572343	9 SubmittersRCV000666959 RCV002442394 RCV005431856
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	CA501036	rs_28942074	17 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	CA6989077	rs_769927137	6 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	CA388024711	rs_1555291809	4 SubmittersRCV000671983 RCV002469250
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)	SNV Germline	Chr13:51968512	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388032906	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	CA6989291	rs_572122562	6 SubmittersRCV000671716 RCV002282316
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter)	SNV Unknown	Chr13:51968583	Likely pathogenic	Wilson disease	No Assertion Criteria Provided	CA388034293	rs_773385516	1 SubmittersRCV000665465
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr13:51974157	Pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6989446	rs_778490238	7 SubmittersRCV000673196 RCV003106017
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)	SNV Germline	Chr13:51974226	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388039746	rs_761084829	9 SubmittersRCV000668824
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)	SNV Germline	Chr13:51974632	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989531	rs_756718353	10 SubmittersRCV000670652 RCV006277994
NM_000053.4(ATP7B):c.4125-2A>G	SNV Germline	Chr13:51935031	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388019882	rs_1555282347	5 SubmittersRCV000668311
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)	SNV Germline	Chr13:51935599	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388019964	rs_780811477	2 SubmittersRCV000668116
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)	SNV Germline	Chr13:51935611	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA388020010	rs_1555282678	5 SubmittersRCV000672293 RCV004689846
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)	SNV Germline	Chr13:51937579	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388022010	rs_1555283916	3 SubmittersRCV000667671
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	SNV Germline	Chr13:51937638	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988575	rs_767464491	12 SubmittersRCV000664771 RCV004792357
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)	SNV Germline	Chr13:51941201	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388026717	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	CA6988782	rs_376910645	7 SubmittersRCV000665883 RCV001508709
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	SNV Germline	Chr13:51944224	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388030271	rs_1412025509	7 SubmittersRCV000665305 RCV003480751
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)	SNV Germline	Chr13:51944266	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388030555	rs_1555286628	3 SubmittersRCV000672441
NM_000053.4(ATP7B):c.3061-12T>A	SNV Germline	Chr13:51944303	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA250080343	rs_1045194246	7 SubmittersRCV000673212
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)	SNV Germline	Chr13:51949700	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388033415	rs_28942076	3 SubmittersRCV000674965
NM_000053.4(ATP7B):c.2576-2A>G	SNV Germline	Chr13:51950163	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA250058526	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	CA6989074	rs_766907687	5 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	CA388023467	rs_1394999756	10 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	CA388023591	rs_1319653818	4 SubmittersRCV000666348
NM_000053.4(ATP7B):c.2121+3A>G	SNV Germline	Chr13:51960145	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA610425893	rs_1248002612	9 SubmittersRCV000667868 RCV006265187
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)	SNV Germline	Chr13:51960191	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388024601	rs_1212479289	4 SubmittersRCV000666566
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)	SNV Germline	Chr13:51960231	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388025245	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	CA6989212	rs_752850609	19 SubmittersRCV000667901 RCV001531802
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)	SNV Unknown	Chr13:51974570	Likely pathogenic	Wilson disease	No Assertion Criteria Provided	CA388042101	rs_1555296472	1 SubmittersRCV000664948
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)	SNV Germline	Chr13:52011335	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA6989721	rs_750530407	5 SubmittersRCV000668127 RCV006459786
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly)	SNV Germline	Chr13:51950361	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA388016681	rs_1566503575	4 SubmittersRCV000707143 RCV004702364 RCV006278053
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)	SNV Germline	Chr13:51937383	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988534	rs_377144951	7 SubmittersRCV000707116 RCV004760749
NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val)	SNV Germline	Chr13:51958315	Pathogenic	Wilson disease	No Assertion Criteria Provided	CA388020448	rs_1566532164	1 SubmittersRCV000721965
NM_000053.4(ATP7B):c.1543+1G>T	SNV Germline	Chr13:51970491	Pathogenic/Likely pathogenic	Wilson disease Inborn genetic diseases ATP7B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA388035008	rs_1360279134	12 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	CA6989273	rs_778475094	3 SubmittersRCV000755712
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser)	SNV Germline	Chr13:51970560	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388035492	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	CA250064899	rs_375071383	3 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	CA6989552	rs_755476114	6 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	CA6989601	rs_200642204	10 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	CA388026664	rs_1566462533	11 SubmittersRCV000761257 RCV002286787
NM_000053.4(ATP7B):c.2866-2A>G	SNV Germline	Chr13:51946480	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388032611	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	CA6988445	rs_546721020	8 SubmittersRCV000780931 RCV000943904
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)	SNV Germline	Chr13:51949732	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388033637	rs_1566498495	9 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	CA6989069	rs_121907997	11 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	CA388024606	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	CA6989145	rs_574041847	3 SubmittersRCV000780928 RCV001413641
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)	SNV Germline	Chr13:51970504	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388035130	rs_1449610384	9 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	CA6989430	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	CA250066950	rs_911589273	4 SubmittersRCV000780927
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	CA6988454	rs_767721448	7 SubmittersRCV000810166 RCV001731938
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)	SNV Germline	Chr13:51935640	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988496	rs_759551693	7 SubmittersRCV000804208 RCV003480839
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	CA6988504	rs_779494870	8 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	CA388021441	rs_1340942427	5 SubmittersRCV000817111
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)	SNV Germline	Chr13:51944213	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA388030195	rs_1441316018	6 SubmittersRCV000811070 RCV003480854
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)	SNV Germline	Chr13:51944273	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388030658	rs_1593672840	2 SubmittersRCV000817129
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)	SNV Germline	Chr13:51950075	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388034454	rs_1455758826	7 SubmittersRCV000796453 RCV004721608
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)	SNV Germline	Chr13:51958366	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6989067	rs_776668666	6 SubmittersRCV000806274 RCV002223947
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)	SNV Germline	Chr13:51974022	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6989414	rs_199807461	8 SubmittersRCV000804503 RCV001508351 RCV003928277
NM_000053.4(ATP7B):c.3243+2T>C	SNV Germline	Chr13:51944107	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388029740	rs_1593671769	4 SubmittersRCV000816422 RCV004792524
NM_000053.4(ATP7B):c.2122-3C>T	SNV Germline	Chr13:51958547	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA915948657	rs_1593726901	5 SubmittersRCV000797318 RCV001193093
NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=)	SNV Germline	Chr13:51942537	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6988750	rs_375820067	5 SubmittersRCV000884984 RCV002320064 RCV004721671
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	CA6988843	rs_373102009	6 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	CA6988620	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	CA6988630	rs_761183334	5 SubmittersRCV000920076
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)	SNV Germline	Chr13:51950372	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988995	rs_373528664	6 SubmittersRCV000914130 RCV001531801
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)	SNV Germline	Chr13:51958380	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989072	rs_750477816	6 SubmittersRCV001110416 RCV005749676
NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=)	SNV Germline	Chr13:51937491	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6988549	rs_772616533	4 SubmittersRCV001414948
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)	SNV Germline	Chr13:51957527	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989027	rs_533967323	6 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	CA6989098	rs_751202110	11 SubmittersRCV001172064 RCV001001455
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu)	SNV Germline	Chr13:51970660	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989362	rs_183044693	4 SubmittersRCV000936870 RCV004726738
NM_000053.4(ATP7B):c.813C>T (p.Cys271=)	SNV Germline	Chr13:51974407	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989495	rs_572147914	4 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	CA6989568	rs_557577836	8 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	CA6988640	rs_765668065	5 SubmittersRCV000943066 RCV001272284
NM_000053.4(ATP7B):c.990A>G (p.Gly330=)	SNV Germline	Chr13:51974230	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989461	rs_754086671	2 SubmittersRCV000979556
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)	SNV Germline	Chr13:51958436	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388022479	rs_1593726081	9 SubmittersRCV000985060 RCV004800649
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly)	SNV Germline	Chr13:51937492	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388021427	rs_1593645393	3 SubmittersRCV000989142
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)	SNV Germline	Chr13:51942430	Conflicting classifications of pathogenicity	Condition: not provided Wilson disease	Criteria Provided Conflicting Classifications	CA6988722	rs_146623472	12 SubmittersRCV000999520 RCV001114348
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	CA915948655	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	CA483895978	rs_758690020	4 SubmittersRCV000996141 RCV002068723
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val)	SNV Germline	Chr13:51974556	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989520	rs_200866801	6 SubmittersRCV001110501
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val)	SNV Germline	Chr13:51941164	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6988675	rs_770428835	6 SubmittersRCV001001003
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)	SNV Germline	Chr13:51950056	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA388034326	rs_1340729837	8 SubmittersRCV001002164 RCV002261249 RCV005432525
NM_000053.4(ATP7B):c.2375T>C (p.Leu792Pro)	SNV Germline	Chr13:51957588	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388020381	rs_1593722897	2 SubmittersRCV001002078
NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter)	SNV Germline	Chr13:51974937	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6989591	rs_756929892	2 SubmittersRCV001001014
NM_000053.4(ATP7B):c.1947-19T>A	SNV Germline	Chr13:51960341	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA915948659	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	CA6988526	rs_778732681	4 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	CA6988860	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	CA388034256	rs_1957898187	5 SubmittersRCV001071453 RCV001509441
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)	SNV Germline	Chr13:51950335	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988985	rs_748113748	4 SubmittersRCV001067105 RCV005054323
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)	SNV Germline	Chr13:51958443	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388022532	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	CA6989213	rs_374172791	11 SubmittersRCV001069979 RCV001508349
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)	SNV Germline	Chr13:51974171	Conflicting classifications of pathogenicity	Wilson disease See cases ATP7B-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6989449	rs_201855906	7 SubmittersRCV001067666 RCV002252312 RCV004751872 RCV005250133
NM_000053.4(ATP7B):c.3061-2A>G	SNV Germline	Chr13:51944293	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388030847	rs_1957520924	5 SubmittersRCV001046279 RCV004597952
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	CA388020083	rs_1958431105	7 SubmittersRCV001064049 RCV003159560
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	SNV Germline	Chr13:51937520	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988556	rs_762866453	10 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	CA6988618	rs_61957448	4 SubmittersRCV001112989
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)	SNV Germline	Chr13:51944201	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6988794	rs_534622837	5 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	CA6988804	rs_761888880	6 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	CA6988842	rs_199581971	6 SubmittersRCV001111073 RCV002436707
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)	SNV Germline	Chr13:51949764	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA250084891	rs_1052485948	6 SubmittersRCV001113062 RCV006443733
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)	SNV Germline	Chr13:51974004	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989411	rs_1801243	8 SubmittersRCV001114539 RCV002245862
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)	SNV Germline	Chr13:51974611	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989529	rs_781140058	5 SubmittersRCV001110502
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)	SNV Germline	Chr13:51974857	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989576	rs_370199412	5 SubmittersRCV001111263 RCV005278734
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	CA6989305	rs_201167060	6 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 Condition: not provided ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6989427	rs_770903362	9 SubmittersRCV001174860 RCV001828588 RCV002327425 RCV004720077 RCV004751900
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)	SNV Germline	Chr13:51974821	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA250067596	rs_1033235740	5 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	CA388019987	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6988977	rs_752634617	6 SubmittersRCV001193695 RCV001286029 RCV004792780
NM_000053.4(ATP7B):c.4125-1G>C	SNV Germline	Chr13:51935030	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388019876	rs_1293549383	1 SubmittersRCV001193092
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)	SNV Germline	Chr13:51937517	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388021577	rs_1257330000	2 SubmittersRCV001221684
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)	SNV Germline	Chr13:51944264	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA388030552	rs_1957518268	6 SubmittersRCV001220850 RCV004590237
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)	SNV Germline	Chr13:51944243	Conflicting classifications of pathogenicity	Wilson disease not specified ATP7B-related disorder	Criteria Provided Conflicting Classifications	CA6988806	rs_750891085	7 SubmittersRCV001214086 RCV002241208 RCV004731102
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	CA6989044	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	CA388027256	rs_1958765122	3 SubmittersRCV001205711
NM_000053.4(ATP7B):c.3060+5G>T	SNV Germline	Chr13:51946279	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA698886559	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	CA388026028	rs_1387431334	9 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	CA6988835	rs_747584649	4 SubmittersRCV001236933
NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val)	SNV Germline	Chr13:51934820	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6988417	rs_553861183	4 SubmittersRCV001242516
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)	SNV Germline	Chr13:51970684	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989369	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	CA6989549	rs_756237962	10 SubmittersRCV001242208 RCV002261322
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)	SNV Germline	Chr13:51974364	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388040879	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	CA388021788	rs_1375884723	4 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 not specified	Criteria Provided Conflicting Classifications	CA250077094	rs_755817220	10 SubmittersRCV001254597 RCV001751521 RCV002451623 RCV005236740
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)	SNV Germline	Chr13:51968521	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6989287	rs_766906034	6 SubmittersRCV001260396
NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter)	SNV Unknown	Chr13:51941114	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388026103	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	CA388028444	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	CA388029772	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	CA388030094	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	CA388032307	rs_1957660801	1 SubmittersRCV001263754
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter)	SNV Germline	Chr13:51950317	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6988982	rs_780292767	2 SubmittersRCV001263755
NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter)	SNV Unknown	Chr13:51964922	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388030261	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	CA388032644	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	CA388033153	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	CA388042950	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	CA388044858	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	CA388044911	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	CA6989618	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	CA388022198	rs_1957048901	2 SubmittersRCV001267645
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=)	SNV Germline	Chr13:51950007	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988934	rs_80145681	7 SubmittersRCV001279627 RCV001838470
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	CA6989274	rs_199875471	6 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	CA6989303	rs_551051945	5 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	CA6989528	rs_200605351	6 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	CA388027646	rs_1957388064	4 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	CA388022464	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	CA6989133	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	CA388030081	rs_1951465769	1 SubmittersRCV001290337
NM_000053.4(ATP7B):c.695C>T (p.Pro232Leu)	SNV Germline	Chr13:51974525	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6989509	rs_777932681	4 SubmittersRCV003051042 RCV004784093
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu)	SNV Germline	Chr13:51950116	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388034776	rs_121907994	2 SubmittersRCV001322608
NM_000053.4(ATP7B):c.213A>G (p.Ser71=)	SNV Germline	Chr13:51975007	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA484025115	rs_1952036108	2 SubmittersRCV001348458
NM_000053.4(ATP7B):c.4124+5G>A	SNV Germline	Chr13:51935588	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA609962127	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	CA388021578	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	CA6988845	rs_770782111	4 SubmittersRCV001378212 RCV003426062
NM_000053.4(ATP7B):c.2730+2T>A	SNV Germline	Chr13:51950005	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388034028	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	CA250058560	rs_1017756733	5 SubmittersRCV001379176 RCV001509443
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)	SNV Germline	Chr13:51944146	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388029883	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	CA388030192	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	CA250080312	rs_949421614	4 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	CA388031901	rs_747584649	6 SubmittersRCV001389304 RCV003481106
NM_000053.4(ATP7B):c.2866-2A>C	SNV Germline	Chr13:51946480	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388032612	rs_1377418826	3 SubmittersRCV001384960
NM_000053.4(ATP7B):c.2447+5G>A	SNV Germline	Chr13:51957511	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA609968992	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	CA388038506	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	CA388038726	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	CA6988574	rs_572110753	4 SubmittersRCV001414342 RCV003298688
NM_000053.4(ATP7B):c.1050G>A (p.Pro350=)	SNV Germline	Chr13:51974170	Conflicting classifications of pathogenicity	Wilson disease not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6989448	rs_372191499	4 SubmittersRCV001432429 RCV003479331 RCV004681175
NM_000053.4(ATP7B):c.447G>A (p.Val149=)	SNV Germline	Chr13:51974773	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA484024962	rs_776619662	2 SubmittersRCV001428543
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)	SNV Germline	Chr13:51934992	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6988467	rs_745866259	4 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	CA6988690	rs_199924281	7 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	CA2499222474	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	CA483896142	rs_757991922	3 SubmittersRCV001468675
NM_000053.4(ATP7B):c.1910A>G (p.Asn637Ser)	SNV Germline	Chr13:51961873	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA6989178	rs_61733683	4 SubmittersRCV001460044 RCV006453688
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	CA6989280	rs_142187604	4 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	CA6988529	rs_529307157	4 SubmittersRCV001496259
NM_000053.4(ATP7B):c.3465G>T (p.Arg1155Ser)	SNV Germline	Chr13:51941172	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6988680	rs_201985951	3 SubmittersRCV001492743
NM_000053.4(ATP7B):c.276C>T (p.Ser92=)	SNV Germline	Chr13:51974944	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA484025411	rs_1952032120	2 SubmittersRCV001494955
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	CA388019785	rs_2138414735	5 SubmittersRCV001506991 RCV003992531
NM_000053.4(ATP7B):c.4125-1G>T	SNV Germline	Chr13:51935030	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388019875	rs_1293549383	3 SubmittersRCV001506990
NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr)	SNV Germline	Chr13:51937559	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388021882	rs_2138578550	1 SubmittersRCV001507004
NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr)	SNV Germline	Chr13:51941090	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388025947	rs_2138775370	2 SubmittersRCV001506989
NM_000053.4(ATP7B):c.3316G>C (p.Val1106Leu)	SNV Germline	Chr13:51942482	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388028423	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	CA388030705	rs_1555286633	1 SubmittersRCV001507001
NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg)	SNV Germline	Chr13:51946285	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388031707	rs_2139046115	2 SubmittersRCV001506983
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu)	SNV Germline	Chr13:51950340	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6988987	rs_773809011	3 SubmittersRCV001506988
NM_000053.4(ATP7B):c.2506G>A (p.Gly836Arg)	SNV Germline	Chr13:51950341	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388016410	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	CA388020430	rs_2139505830	5 SubmittersRCV001506987
NM_000053.4(ATP7B):c.1869+2T>C	SNV Germline	Chr13:51964870	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388029859	rs_2139767694	4 SubmittersRCV001506984
NM_000053.4(ATP7B):c.1658C>A (p.Ala553Glu)	SNV Germline	Chr13:51968493	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388032819	rs_1179062239	1 SubmittersRCV001506985
NM_000053.4(ATP7B):c.1369C>T (p.Gln457Ter)	SNV Germline	Chr13:51970666	Pathogenic	Wilson disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA388035894	rs_1951795080	5 SubmittersRCV001506997 RCV005503161
NM_000053.4(ATP7B):c.1286-2A>G	SNV Germline	Chr13:51970751	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388036212	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	CA388030529	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	CA388032732	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	CA388029915	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	CA388032027	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	CA388032231	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	CA388020480	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	CA388030308	rs_959916899	1 SubmittersRCV001527075
NM_000053.4(ATP7B):c.1708-34G>A	SNV Germline	Chr13:51965067	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA2499222498	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	CA6989119	rs_767218895	7 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	CA6988863	rs_537498754	2 SubmittersRCV001559287
NM_000053.4(ATP7B):c.432G>T (p.Val144=)	SNV Germline	Chr13:51974788	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA484024998	rs_2140102093	2 SubmittersRCV001559286
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)	SNV Germline	Chr13:51935629	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6988495	rs_776848753	4 SubmittersRCV001580636
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser)	SNV Germline	Chr13:51937326	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6988522	rs_760285767	6 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	CA388032391	rs_778163447	2 SubmittersRCV001768925 RCV003609187
NM_000053.4(ATP7B):c.2795C>G (p.Ser932Ter)	SNV Germline	Chr13:51949732	Pathogenic	Wilson disease	Criteria Provided Single Submitter		rs_1566498495	1 SubmittersRCV006531110
NM_000053.4(ATP7B):c.3557-1G>C	SNV Germline	Chr13:51939194	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388024861	rs_2138674428	2 SubmittersRCV002545181 RCV001817789
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	CA6988948	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	CA6989117	rs_751235573	2 SubmittersRCV001823703
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu)	SNV Germline	Chr13:51946303	Conflicting classifications of pathogenicity	Wilson disease not specified	Criteria Provided Conflicting Classifications	CA388031831	rs_2139048200	3 SubmittersRCV003502610 RCV001844588
NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu)	SNV Germline	Chr13:51942516	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388028751	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	CA250084964	rs_1014184765	3 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	CA388033824	rs_1230241288	6 SubmittersRCV001881506 RCV002261405
NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg)	SNV Germline	Chr13:51958366	Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388021793	rs_776668666	2 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	CA6988947	rs_775553302	3 SubmittersRCV002032183 RCV003923417
NM_000053.4(ATP7B):c.3061-1G>A	SNV Germline	Chr13:51944292	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6988815	rs_780955130	6 SubmittersRCV002037652
NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter)	SNV Germline	Chr13:51970696	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388035967	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	CA388020125	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	CA388021777	rs_1057516844	1 SubmittersRCV001985854
NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter)	SNV Germline	Chr13:51937607	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388022165	rs_1566444909	2 SubmittersRCV001951859
NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu)	SNV Germline	Chr13:51939062	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA6988610	rs_200911496	1 SubmittersRCV002019460
NM_000053.4(ATP7B):c.2448G>T (p.Arg816Ser)	SNV Germline	Chr13:51950399	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388017173	rs_1957924589	1 SubmittersRCV001950954
NM_000053.4(ATP7B):c.2121+3A>T	SNV Germline	Chr13:51960145	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA2573149704	rs_1248002612	1 SubmittersRCV001970185
NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro)	SNV Germline	Chr13:51974193	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388039449	rs_2140077796	3 SubmittersRCV001937418
NM_000053.4(ATP7B):c.1707+1G>A	SNV Germline	Chr13:51968443	Pathogenic/Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250064849	rs_377001615	5 SubmittersRCV002030308 RCV005232755
NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala)	SNV Germline	Chr13:51950275	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388015660	rs_2139220914	1 SubmittersRCV002019924
NM_000053.4(ATP7B):c.2122-1G>C	SNV Germline	Chr13:51958545	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388023592	rs_1319653818	2 SubmittersRCV001976500
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu)	SNV Germline	Chr13:51958534	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388023465	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	CA388020308	rs_779494870	2 SubmittersRCV002009173
NM_000053.4(ATP7B):c.3280T>C (p.Phe1094Leu)	SNV Germline	Chr13:51942518	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388028775	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	CA6988840	rs_751078884	4 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	CA6988905	rs_776002066	5 SubmittersRCV001997260 RCV002441097
NM_000053.4(ATP7B):c.2730+2T>C	SNV Germline	Chr13:51950005	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388034025	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	CA6988505	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	CA6988527	rs_548512104	5 SubmittersRCV002019163
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)	SNV Germline	Chr13:51958483	Pathogenic/Likely pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA6989091	rs_760713333	5 SubmittersRCV001994832
NM_000053.4(ATP7B):c.1543+1G>C	SNV Germline	Chr13:51970491	Pathogenic	Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388035011	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	CA388033509	rs_1057517310	3 SubmittersRCV001916111
NM_000053.4(ATP7B):c.3244-1G>A	SNV Germline	Chr13:51942555	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388029063	rs_2138859417	1 SubmittersRCV001933665
NM_000053.4(ATP7B):c.404C>G (p.Ser135Ter)	SNV Germline	Chr13:51974816	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388044087	rs_2140103116	1 SubmittersRCV001942120
NM_000053.4(ATP7B):c.1544-1G>A	SNV Germline	Chr13:51968608	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388034541	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	CA388020088	rs_1958431105	2 SubmittersRCV001939532
NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys)	SNV Germline	Chr13:51974034	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA6989420	rs_763051801	4 SubmittersRCV001920685
NM_000053.4(ATP7B):c.721C>T (p.Gln241Ter)	SNV Germline	Chr13:51974499	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388041776	rs_2140091906	1 SubmittersRCV001899589
NM_000053.4(ATP7B):c.3270C>G (p.Tyr1090Ter)	SNV Germline	Chr13:51942528	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388028837	rs_2138857747	1 SubmittersRCV001951276
NM_000053.4(ATP7B):c.2731-1G>A	SNV Germline	Chr13:51949797	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388033956	rs_2139193234	1 SubmittersRCV001972470
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly)	SNV Germline	Chr13:51937339	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388021086	rs_2138561490	2 SubmittersRCV002038013
NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala)	SNV Germline	Chr13:51941200	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388026713	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	CA388019625	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	CA388032453	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	CA388028513	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	CA388022381	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	CA388024554	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	CA388035408	rs_2139962593	1 SubmittersRCV001996052
NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu)	SNV Germline	Chr13:51942516	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA388028758	rs_1957397703	2 SubmittersRCV001951314
NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn)	SNV Germline	Chr13:51950362	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA6988991	rs_181388674	1 SubmittersRCV002008788
NM_000053.4(ATP7B):c.1537G>T (p.Glu513Ter)	SNV Germline	Chr13:51970498	Pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388035060	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	CA6989443	rs_759359836	2 SubmittersRCV001958284
NM_000053.4(ATP7B):c.1947-1G>C	SNV Germline	Chr13:51960323	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388026193	rs_1405260211	1 SubmittersRCV002029202
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)	SNV Germline	Chr13:51950075	Conflicting classifications of pathogenicity	Wilson disease Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA388034459	rs_1455758826	7 SubmittersRCV002023924 RCV002548851 RCV002509746
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro)	SNV Germline	Chr13:51944182	Conflicting classifications of pathogenicity	Wilson disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6988790	rs_373601229	5 SubmittersRCV001918555 RCV006266950
NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu)	SNV Germline	Chr13:51958371	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388021851	rs_774769813	1 SubmittersRCV001984040
NM_000053.4(ATP7B):c.1286-1G>T	SNV Germline	Chr13:51970750	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388036205	rs_2139975355	1 SubmittersRCV002012409
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)	SNV Germline	Chr13:51944135	Conflicting classifications of pathogenicity	Wilson disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6988778	rs_376112375	6 SubmittersRCV002077425 RCV006269556 RCV006558332
NM_000053.4(ATP7B):c.1176G>T (p.Val392=)	SNV Germline	Chr13:51974044	Conflicting classifications of pathogenicity	Wilson disease	Criteria Provided Conflicting Classifications	CA484024600	rs_1951977983	2 SubmittersRCV002084127
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile)	SNV Germline	Chr13:51937570	Likely pathogenic	Wilson disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6988565	rs_121907990	3 SubmittersRCV002248978 RCV006280945
NM_000053.4(ATP7B):c.3412+1G>C	SNV Germline	Chr13:51942385	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388027643	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	CA388021804	rs_2139531503	3 SubmittersRCV002254510 RCV003094178
NM_000053.4(ATP7B):c.3060+2T>C	SNV Germline	Chr13:51946282	Pathogenic/Likely pathogenic	Condition: not provided Wilson disease	Criteria Provided Multiple Submitters No Conflicts	CA388031687	rs_2139045834	2 SubmittersRCV002275992 RCV005008508
NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter)	SNV Unknown	Chr13:51974807	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388044071	rs_2547823060	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	CA388022260	rs_2547569054	2 SubmittersRCV002308044
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)	SNV Unknown	Chr13:51942486	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388028459	rs_2547612821	1 SubmittersRCV002309365
NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter)	SNV Unknown	Chr13:51942533	Likely pathogenic	Wilson disease	Criteria Provided Single Submitter	CA388028872	rs_1468895797	1 SubmittersRCV002306926

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

43 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

19 SubmittersRCV000004053 RCV001507825

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

SNV
Germline

Chr13:51965034

Pathogenic

Wilson disease
Condition: not provided
Developmental and epileptic encephalopathy 93

Criteria Provided
Multiple Submitters
No Conflicts

CA252891

rs_137853280

18 SubmittersRCV000004054 RCV001579816 RCV005411279

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

24 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

24 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

11 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

15 SubmittersRCV000004060 RCV001091638

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

SNV
Germline

Chr13:51949772

Pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252895

rs_121907993

12 SubmittersRCV000004061 RCV001818123 RCV004678595

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

SNV
Germline

Chr13:51937570

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252896

rs_121907990

24 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
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252897

rs_121907996

21 SubmittersRCV000004064 RCV000270891 RCV003904804 RCV005512700

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

6 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

23 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

20 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

16 SubmittersRCV000004068 RCV000421016

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

SNV
Germline

Chr13:51958543

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252902

rs_121908000

14 SubmittersRCV000004069 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

9 SubmittersRCV000004070

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

SNV
Germline

Chr13:51941111

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA351338

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

19 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

11 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

20 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
Hearing loss, autosomal recessive 109

Criteria Provided
Multiple Submitters
No Conflicts

CA220308

rs_72552255

22 SubmittersRCV000029359 RCV000790662 RCV002433469 RCV003924861 RCV005411298

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
not specified

Criteria Provided
Conflicting Classifications

CA260132

rs_193922104

11 SubmittersRCV000029360 RCV000726685 RCV002433470 RCV003407364 RCV005406760

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

SNV
Germline

Chr13:51946372

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA090896

rs_41292782

19 SubmittersRCV000029361 RCV000255583 RCV002513236 RCV003904863

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

SNV
Germline

Chr13:51946299

Conflicting classifications of pathogenicity

Wilson disease
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA171306

rs_1801248

23 SubmittersRCV000029365 RCV000145268 RCV002444441 RCV006445472

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

16 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

12 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

11 SubmittersRCV000029374 RCV000413521

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

SNV
Germline

Chr13:51937342

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA260148

rs_193922109

22 SubmittersRCV000029377 RCV000494120 RCV002371783 RCV004751225

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

12 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

20 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

Condition: not provided
Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA220306

rs_187046823

13 SubmittersRCV000487499 RCV000670794 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

13 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

12 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

16 SubmittersRCV000078053 RCV000490530 RCV002354273 RCV003333954

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

SNV
Germline

Chr13:51974592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220311

rs_61733680

11 SubmittersRCV000436240 RCV001001253 RCV003935015 RCV005237518

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

SNV
Germline

Chr13:51974305

Pathogenic/Likely pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA220313

rs_398123137

6 SubmittersRCV000175511 RCV001201260

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

SNV
Germline

Chr13:51958538

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270731

rs_137853285

22 SubmittersRCV000144365 RCV000497757

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

SNV
Germline

Chr13:51958334

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270733

rs_137853284

14 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

19 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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271166

rs_201738967

23 SubmittersRCV000145251 RCV000416017 RCV002514798 RCV004751288

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

SNV
Germline

Chr13:51961906

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271167

rs_587783299

19 SubmittersRCV000145253 RCV000415842 RCV003162602 RCV004751289

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

7 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
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA271169

rs_72552259

22 SubmittersRCV000145256 RCV000415012 RCV000498564 RCV000855573 RCV002415630 RCV005887041

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

8 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

15 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

29 SubmittersRCV000145263 RCV000413599 RCV000623574 RCV003415974

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

SNV
Germline

Chr13:51949661

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271173

rs_587783306

8 SubmittersRCV000145266 RCV004700462

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

10 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
not specified

Criteria Provided
Conflicting Classifications

CA271175

rs_372456815

12 SubmittersRCV000145272 RCV001707533 RCV002321620 RCV005431488

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

8 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

8 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

5 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

12 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
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA271180

rs_181250704

20 SubmittersRCV000309770 RCV000587055 RCV000763902 RCV002252001 RCV002326851 RCV004751290

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

13 SubmittersRCV000148375 RCV001091634

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

SNV
Germline

Chr13:51935629

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

15 SubmittersRCV000169321 RCV000726684

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

SNV
Germline

Chr13:51937484

Pathogenic/Likely pathogenic

Wilson disease
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274423

rs_749472361

13 SubmittersRCV000169572 RCV004751319

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

15 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

12 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
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA274325

rs_184388696

10 SubmittersRCV000169452 RCV003159558 RCV005889646

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

SNV
Germline

Chr13:51941081

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274098

rs_786204547

16 SubmittersRCV000169260 RCV002254281 RCV002453567

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

11 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

17 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

11 SubmittersRCV000169142

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

SNV
Germline

Chr13:51942535

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274082

rs_753250853

15 SubmittersRCV000169240 RCV001557295 RCV003907530 RCV005749518

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

SNV
Germline

Chr13:51942556

Pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274176

rs_786204584

9 SubmittersRCV000169327 RCV003480072 RCV004730892

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

13 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

17 SubmittersRCV000169109 RCV001508716 RCV001814079

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

SNV
Germline

Chr13:51946337

Pathogenic

Wilson disease
Epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273980

rs_201497300

17 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

17 SubmittersRCV000169179 RCV000362786 RCV002433726

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

SNV
Germline

Chr13:51949699

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274329

rs_779323689

12 SubmittersRCV000169455 RCV001531800

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

SNV
Germline

Chr13:51949723

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273878

rs_750019452

19 SubmittersRCV000169002 RCV001509440 RCV004751314

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

19 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

13 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

8 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

12 SubmittersRCV000169233 RCV000333003

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

SNV
Germline

Chr13:51957580

Pathogenic/Likely pathogenic

Wilson disease
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA273992

rs_751710854

14 SubmittersRCV000169151 RCV004813069

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
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA274399

rs_759749626

9 SubmittersRCV000169532 RCV003480073 RCV005889648

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

SNV
Germline

Chr13:51974407

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Intellectual disability, Wolff type
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274145

rs_572147914

24 SubmittersRCV000169298 RCV000724151 RCV001823123 RCV004751316

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

SNV
Germline

Chr13:51974889

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA274096

rs_774221179

7 SubmittersRCV000169259

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

SNV
Germline

Chr13:51974906

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

5 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

11 SubmittersRCV000174213 RCV000587605 RCV001081569 RCV003955024

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

SNV
Germline

Chr13:51941132

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA277193

rs_749085322

9 SubmittersRCV000193725 RCV004791316 RCV006456822

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

8 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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6988719

rs_145887771

10 SubmittersRCV000251888 RCV001001299 RCV003391012 RCV002450763

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

9 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6988992

rs_570594838

13 SubmittersRCV000245085 RCV000907046 RCV001699268 RCV004965354

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

18 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

4 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
not specified
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988994

rs_539585071

10 SubmittersRCV000327770 RCV001582911 RCV001242406

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
not specified
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6988855

rs_116587608

15 SubmittersRCV000725741 RCV001080148 RCV002436109 RCV002509346 RCV003947909

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

9 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

10 SubmittersRCV000372640 RCV000780935 RCV003151766

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

SNV
Germline

Chr13:51944231

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6988802

rs_746485916

14 SubmittersRCV000308454 RCV003223635 RCV004751452

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
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA6988981

rs_200996053

14 SubmittersRCV000261389 RCV000859330 RCV003422258 RCV005893237 RCV005893235 RCV005893236 RCV005893234

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

SNV
Germline

Chr13:51973942

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989402

rs_143556945

17 SubmittersRCV000306439 RCV000610248 RCV000873189 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

9 SubmittersRCV000271169 RCV001711923 RCV003930333

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

SNV
Germline

Chr13:51944170

Pathogenic

Wilson disease
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6988785

rs_764131178

20 SubmittersRCV000395391 RCV000506750 RCV001558379 RCV002321983

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

8 SubmittersRCV000396679 RCV001579443

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

SNV
Germline

Chr13:51974098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6989439

rs_201254466

11 SubmittersRCV000277263 RCV003930334 RCV004678673 RCV004719091 RCV005893238

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

7 SubmittersRCV000313711 RCV000425182 RCV001269200

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

SNV
Germline

Chr13:52011283

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989708

rs_369488210

22 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
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6988609

rs_200911496

19 SubmittersRCV000331049 RCV000455157 RCV000757022 RCV002522293 RCV004751451

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

SNV
Germline

Chr13:51942402

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6988720

rs_370947152

11 SubmittersRCV000395395 RCV001356076 RCV002450860 RCV002469127

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

7 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

7 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

10 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

6 SubmittersRCV000270155 RCV002469126

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

SNV
Germline

Chr13:51942523

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988748

rs_368545738

11 SubmittersRCV000343352 RCV002261043

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

SNV
Germline

Chr13:51944247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6988808

rs_200324179

9 SubmittersRCV000363247 RCV000605266 RCV004597776 RCV004751453

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

SNV
Germline

Chr13:51949772

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6988915

rs_121907993

17 SubmittersRCV000388607 RCV000999521 RCV004751454

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

5 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

11 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.3317T>A (p.Val1106Asp)

SNV
Germline

Chr13:51942481

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988740

rs_775541743

6 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

9 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

6 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

8 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

6 SubmittersRCV000410970

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

SNV
Germline

Chr13:51958509

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

4 SubmittersRCV000411333

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

SNV
Germline

Chr13:51965035

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

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

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041678

rs_1057516305

3 SubmittersRCV000409337

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

SNV
Germline

Chr13:51975117

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA16041683

rs_1057516516

2 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

5 SubmittersRCV000411235

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

SNV
Unknown

Chr13:51946381

Likely pathogenic

Kayser-Fleischer ring
Hand tremor
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
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988773

rs_373193482

13 SubmittersRCV000441386 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

5 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

9 SubmittersRCV000424597 RCV000959396 RCV003352863

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

5 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

13 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

7 SubmittersRCV000434557 RCV000780936

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

SNV
Germline

Chr13:51961861

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989172

rs_186924074

15 SubmittersRCV000587060 RCV000631248 RCV001263514 RCV002525825

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.3999G>A (p.Leu1333=)

SNV
Germline

Chr13:51937298

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988521

rs_186435141

2 SubmittersRCV000487838 RCV005056064

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

4 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

15 SubmittersRCV000495835 RCV003480655

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

SNV
Germline

Chr13:51974873

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6989581

rs_199773340

14 SubmittersRCV000755833 RCV001239682 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

8 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

13 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

18 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

5 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

11 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

5 SubmittersRCV000548917 RCV003480668

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

SNV
Germline

Chr13:51935653

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388020155

rs_1305262063

2 SubmittersRCV003609157 RCV005898601

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

SNV
Germline

Chr13:51941080

Pathogenic/Likely pathogenic

Wilson disease
Lung cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA388025828

rs_184388696

5 SubmittersRCV000587514 RCV005898600

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

8 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

6 SubmittersRCV000589178

NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)

SNV
Germline

Chr13:51970620

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6989354

rs_771789585

6 SubmittersRCV000586062 RCV000822876

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

5 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

11 SubmittersRCV000588787 RCV003480706

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

SNV
Germline

Chr13:51970744

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989382

rs_145173864

7 SubmittersRCV000589895 RCV001459906 RCV005502840

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

13 SubmittersRCV000674801 RCV002261126

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

SNV
Germline

Chr13:51960276

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6989142

rs_146303208

15 SubmittersRCV000587250 RCV001001851 RCV001003423 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
not specified

Criteria Provided
Conflicting Classifications

CA6989561

rs_200606656

10 SubmittersRCV000589823 RCV001111262 RCV002530887 RCV006459630

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

8 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

6 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

3 SubmittersRCV000596907 RCV004002461

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

SNV
Germline

Chr13:51974895

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989584

rs_751920801

9 SubmittersRCV000603728 RCV000612067 RCV001726257 RCV002325149

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

5 SubmittersRCV000604203 RCV000925140

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

SNV
Germline

Chr13:51973930

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Wilson disease
ATP7B-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6989401

rs_370579582

20 SubmittersRCV000624233 RCV000996144 RCV001004593 RCV003980208 RCV005900080

NM_000053.4(ATP7B):c.1911C>T (p.Asn637=)

SNV
Germline

Chr13:51961872

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989176

rs_770640457

2 SubmittersRCV000631242

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

6 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

7 SubmittersRCV000631234

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

SNV
Germline

Chr13:51935654

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388020160

rs_1555282751

5 SubmittersRCV000670965

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

SNV
Germline

Chr13:51935697

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388020316

rs_1555282816

3 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

CA6988552

rs_776300396

8 SubmittersRCV000669064 RCV001531798

NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)

SNV
Germline

Chr13:51937516

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6988555

rs_373748155

6 SubmittersRCV000670692 RCV000779812

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

SNV
Germline

Chr13:51937516

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388021569

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

CA388021725

rs_755202606

5 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

CA6988563

rs_778914828

4 SubmittersRCV000668962

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

SNV
Germline

Chr13:51937612

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388022193

rs_1555283946

3 SubmittersRCV000673283 RCV005240446

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

SNV
Germline

Chr13:51937657

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388022524

rs_1555283994

3 SubmittersRCV000668265

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

SNV
Germline

Chr13:51937680

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388022674

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

CA6988608

rs_568009639

8 SubmittersRCV000670901

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

SNV
Germline

Chr13:51941131

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388026285

rs_1555285311

2 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

CA6988749

rs_778825095

8 SubmittersRCV000668718 RCV000757021 RCV000779813 RCV002531207

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

SNV
Germline

Chr13:51942532

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388028869

rs_1555285911

4 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

CA388029904

rs_1555286478

7 SubmittersRCV000665474 RCV001508708

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

SNV
Germline

Chr13:51946366

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6988850

rs_200290721

13 SubmittersRCV000670460 RCV001310697 RCV004026114

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

SNV
Germline

Chr13:51946405

Pathogenic/Likely pathogenic

Wilson disease
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250082222

rs_1038582488

8 SubmittersRCV000672631 RCV003420191

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

SNV
Germline

Chr13:51957608

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388020428

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

CA6989057

rs_751798708

6 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

CA388023486

rs_1555291285

7 SubmittersRCV000666574

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

SNV
Germline

Chr13:51960269

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388025664

rs_1474837260

3 SubmittersRCV000672351

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

SNV
Unknown

Chr13:51968609

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

CA388034546

rs_1555294398

1 SubmittersRCV000669421

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

SNV
Germline

Chr13:51937595

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988569

rs_769484789

10 SubmittersRCV000665788 RCV005054237

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

SNV
Germline

Chr13:51939088

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388023832

rs_1486594906

5 SubmittersRCV000667577

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

SNV
Germline

Chr13:51939112

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388023996

rs_1555284582

5 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

CA6988776

rs_748819198

8 SubmittersRCV000674164 RCV003480757

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

SNV
Unknown

Chr13:51944278

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

CA388030694

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

CA250082177

rs_199623434

5 SubmittersRCV000672021

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

SNV
Germline

Chr13:51949775

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250084943

rs_540935874

7 SubmittersRCV000667455 RCV005243333

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

CA6988979

rs_777629392

8 SubmittersRCV000670079 RCV001509442

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

SNV
Germline

Chr13:51957608

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388020427

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

CA388023303

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

CA388024694

rs_1555291801

8 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

CA388040975

rs_1555296356

5 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

CA388042708

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

CA388021893

rs_758355520

6 SubmittersRCV000668789

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

SNV
Germline

Chr13:51944197

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988793

rs_778543794

5 SubmittersRCV000671512 RCV004702300

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

CA6988839

rs_751078884

8 SubmittersRCV000673544 RCV003319396

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

SNV
Germline

Chr13:51946360

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6988847

rs_777791532

3 SubmittersRCV000672990

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

SNV
Unknown

Chr13:51949784

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

CA388033901

rs_1555288479

1 SubmittersRCV000671014

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

SNV
Germline

Chr13:51950117

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Single Submitter

CA250085276

rs_376355660

2 SubmittersRCV000674734 RCV004792368

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

SNV
Germline

Chr13:51950267

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA250058550

rs_551030054

3 SubmittersRCV000672253

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

SNV
Germline

Chr13:51950271

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388015596

rs_766149114

3 SubmittersRCV000673153

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

SNV
Unknown

Chr13:51957514

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

CA388020076

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

CA388020209

rs_770020484

4 SubmittersRCV000670601

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

SNV
Germline

Chr13:51958307

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6989055

rs_776572343

9 SubmittersRCV000666959 RCV002442394 RCV005431856

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

CA501036

rs_28942074

17 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

CA6989077

rs_769927137

6 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

CA388024711

rs_1555291809

4 SubmittersRCV000671983 RCV002469250

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

SNV
Germline

Chr13:51968512

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388032906

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

CA6989291

rs_572122562

6 SubmittersRCV000671716 RCV002282316

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

SNV
Unknown

Chr13:51968583

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

CA388034293

rs_773385516

1 SubmittersRCV000665465

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

SNV
Germline

Chr13:51974157

Pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6989446

rs_778490238

7 SubmittersRCV000673196 RCV003106017

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

SNV
Germline

Chr13:51974226

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388039746

rs_761084829

9 SubmittersRCV000668824

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

SNV
Germline

Chr13:51974632

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989531

rs_756718353

10 SubmittersRCV000670652 RCV006277994

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

SNV
Germline

Chr13:51935031

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388019882

rs_1555282347

5 SubmittersRCV000668311

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

SNV
Germline

Chr13:51935599

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388019964

rs_780811477

2 SubmittersRCV000668116

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

SNV
Germline

Chr13:51935611

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388020010

rs_1555282678

5 SubmittersRCV000672293 RCV004689846

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

SNV
Germline

Chr13:51937579

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388022010

rs_1555283916

3 SubmittersRCV000667671

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

SNV
Germline

Chr13:51937638

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988575

rs_767464491

12 SubmittersRCV000664771 RCV004792357

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

SNV
Germline

Chr13:51941201

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388026717

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

CA6988782

rs_376910645

7 SubmittersRCV000665883 RCV001508709

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

SNV
Germline

Chr13:51944224

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388030271

rs_1412025509

7 SubmittersRCV000665305 RCV003480751

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

SNV
Germline

Chr13:51944266

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388030555

rs_1555286628

3 SubmittersRCV000672441

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

SNV
Germline

Chr13:51944303

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA250080343

rs_1045194246

7 SubmittersRCV000673212

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

SNV
Germline

Chr13:51949700

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388033415

rs_28942076

3 SubmittersRCV000674965

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

SNV
Germline

Chr13:51950163

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA250058526

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

CA6989074

rs_766907687

5 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

CA388023467

rs_1394999756

10 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

CA388023591

rs_1319653818

4 SubmittersRCV000666348

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

SNV
Germline

Chr13:51960145

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA610425893

rs_1248002612

9 SubmittersRCV000667868 RCV006265187

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

SNV
Germline

Chr13:51960191

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388024601

rs_1212479289

4 SubmittersRCV000666566

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

SNV
Germline

Chr13:51960231

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388025245

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

CA6989212

rs_752850609

19 SubmittersRCV000667901 RCV001531802

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

SNV
Unknown

Chr13:51974570

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

CA388042101

rs_1555296472

1 SubmittersRCV000664948

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

SNV
Germline

Chr13:52011335

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6989721

rs_750530407

5 SubmittersRCV000668127 RCV006459786

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

SNV
Germline

Chr13:51950361

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388016681

rs_1566503575

4 SubmittersRCV000707143 RCV004702364 RCV006278053

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

SNV
Germline

Chr13:51937383

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988534

rs_377144951

7 SubmittersRCV000707116 RCV004760749

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

SNV
Germline

Chr13:51958315

Pathogenic

Wilson disease

No Assertion Criteria Provided

CA388020448

rs_1566532164

1 SubmittersRCV000721965

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

SNV
Germline

Chr13:51970491

Pathogenic/Likely pathogenic

Wilson disease
Inborn genetic diseases
ATP7B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA388035008

rs_1360279134

12 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

CA6989273

rs_778475094

3 SubmittersRCV000755712

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

SNV
Germline

Chr13:51970560

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388035492

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

CA250064899

rs_375071383

3 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

CA6989552

rs_755476114

6 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

CA6989601

rs_200642204

10 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

CA388026664

rs_1566462533

11 SubmittersRCV000761257 RCV002286787

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

SNV
Germline

Chr13:51946480

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388032611

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

CA6988445

rs_546721020

8 SubmittersRCV000780931 RCV000943904

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

SNV
Germline

Chr13:51949732

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388033637

rs_1566498495

9 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

CA6989069

rs_121907997

11 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

CA388024606

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

CA6989145

rs_574041847

3 SubmittersRCV000780928 RCV001413641

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

SNV
Germline

Chr13:51970504

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388035130

rs_1449610384

9 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

CA6989430

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

CA250066950

rs_911589273

4 SubmittersRCV000780927

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

CA6988454

rs_767721448

7 SubmittersRCV000810166 RCV001731938

NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)

SNV
Germline

Chr13:51935640

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988496

rs_759551693

7 SubmittersRCV000804208 RCV003480839

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

CA6988504

rs_779494870

8 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

CA388021441

rs_1340942427

5 SubmittersRCV000817111

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

SNV
Germline

Chr13:51944213

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388030195

rs_1441316018

6 SubmittersRCV000811070 RCV003480854

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

SNV
Germline

Chr13:51944273

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388030658

rs_1593672840

2 SubmittersRCV000817129

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

SNV
Germline

Chr13:51950075

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388034454

rs_1455758826

7 SubmittersRCV000796453 RCV004721608

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

SNV
Germline

Chr13:51958366

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6989067

rs_776668666

6 SubmittersRCV000806274 RCV002223947

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

SNV
Germline

Chr13:51974022

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6989414

rs_199807461

8 SubmittersRCV000804503 RCV001508351 RCV003928277

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

SNV
Germline

Chr13:51944107

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388029740

rs_1593671769

4 SubmittersRCV000816422 RCV004792524

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

SNV
Germline

Chr13:51958547

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA915948657

rs_1593726901

5 SubmittersRCV000797318 RCV001193093

NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=)

SNV
Germline

Chr13:51942537

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988750

rs_375820067

5 SubmittersRCV000884984 RCV002320064 RCV004721671

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

CA6988843

rs_373102009

6 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

CA6988620

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

CA6988630

rs_761183334

5 SubmittersRCV000920076

NM_000053.4(ATP7B):c.2475G>A (p.Val825=)

SNV
Germline

Chr13:51950372

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988995

rs_373528664

6 SubmittersRCV000914130 RCV001531801

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

SNV
Germline

Chr13:51958380

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989072

rs_750477816

6 SubmittersRCV001110416 RCV005749676

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

SNV
Germline

Chr13:51937491

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988549

rs_772616533

4 SubmittersRCV001414948

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

SNV
Germline

Chr13:51957527

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989027

rs_533967323

6 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

CA6989098

rs_751202110

11 SubmittersRCV001172064 RCV001001455

NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu)

SNV
Germline

Chr13:51970660

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989362

rs_183044693

4 SubmittersRCV000936870 RCV004726738

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

SNV
Germline

Chr13:51974407

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989495

rs_572147914

4 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

CA6989568

rs_557577836

8 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

CA6988640

rs_765668065

5 SubmittersRCV000943066 RCV001272284

NM_000053.4(ATP7B):c.990A>G (p.Gly330=)

SNV
Germline

Chr13:51974230

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989461

rs_754086671

2 SubmittersRCV000979556

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

SNV
Germline

Chr13:51958436

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388022479

rs_1593726081

9 SubmittersRCV000985060 RCV004800649

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

SNV
Germline

Chr13:51937492

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388021427

rs_1593645393

3 SubmittersRCV000989142

NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)

SNV
Germline

Chr13:51942430

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA6988722

rs_146623472

12 SubmittersRCV000999520 RCV001114348

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

CA915948655

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

CA483895978

rs_758690020

4 SubmittersRCV000996141 RCV002068723

NM_000053.4(ATP7B):c.664A>G (p.Ile222Val)

SNV
Germline

Chr13:51974556

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989520

rs_200866801

6 SubmittersRCV001110501

NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val)

SNV
Germline

Chr13:51941164

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988675

rs_770428835

6 SubmittersRCV001001003

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

SNV
Germline

Chr13:51950056

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA388034326

rs_1340729837

8 SubmittersRCV001002164 RCV002261249 RCV005432525

NM_000053.4(ATP7B):c.2375T>C (p.Leu792Pro)

SNV
Germline

Chr13:51957588

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388020381

rs_1593722897

2 SubmittersRCV001002078

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

SNV
Germline

Chr13:51974937

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6989591

rs_756929892

2 SubmittersRCV001001014

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

SNV
Germline

Chr13:51960341

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA915948659

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

CA6988526

rs_778732681

4 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

CA6988860

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

CA388034256

rs_1957898187

5 SubmittersRCV001071453 RCV001509441

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

SNV
Germline

Chr13:51950335

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988985

rs_748113748

4 SubmittersRCV001067105 RCV005054323

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

SNV
Germline

Chr13:51958443

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388022532

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

CA6989213

rs_374172791

11 SubmittersRCV001069979 RCV001508349

NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)

SNV
Germline

Chr13:51974171

Conflicting classifications of pathogenicity

Wilson disease
See cases
ATP7B-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989449

rs_201855906

7 SubmittersRCV001067666 RCV002252312 RCV004751872 RCV005250133

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

SNV
Germline

Chr13:51944293

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388030847

rs_1957520924

5 SubmittersRCV001046279 RCV004597952

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

CA388020083

rs_1958431105

7 SubmittersRCV001064049 RCV003159560

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

SNV
Germline

Chr13:51937520

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988556

rs_762866453

10 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

CA6988618

rs_61957448

4 SubmittersRCV001112989

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

SNV
Germline

Chr13:51944201

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988794

rs_534622837

5 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

CA6988804

rs_761888880

6 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

CA6988842

rs_199581971

6 SubmittersRCV001111073 RCV002436707

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

SNV
Germline

Chr13:51949764

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250084891

rs_1052485948

6 SubmittersRCV001113062 RCV006443733

NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)

SNV
Germline

Chr13:51974004

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989411

rs_1801243

8 SubmittersRCV001114539 RCV002245862

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

SNV
Germline

Chr13:51974611

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989529

rs_781140058

5 SubmittersRCV001110502

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

SNV
Germline

Chr13:51974857

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989576

rs_370199412

5 SubmittersRCV001111263 RCV005278734

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

CA6989305

rs_201167060

6 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
Condition: not provided
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6989427

rs_770903362

9 SubmittersRCV001174860 RCV001828588 RCV002327425 RCV004720077 RCV004751900

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

SNV
Germline

Chr13:51974821

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA250067596

rs_1033235740

5 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

CA388019987

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988977

rs_752634617

6 SubmittersRCV001193695 RCV001286029 RCV004792780

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

SNV
Germline

Chr13:51935030

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388019876

rs_1293549383

1 SubmittersRCV001193092

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

SNV
Germline

Chr13:51937517

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388021577

rs_1257330000

2 SubmittersRCV001221684

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

SNV
Germline

Chr13:51944264

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388030552

rs_1957518268

6 SubmittersRCV001220850 RCV004590237

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

SNV
Germline

Chr13:51944243

Conflicting classifications of pathogenicity

Wilson disease
not specified
ATP7B-related disorder

Criteria Provided
Conflicting Classifications

CA6988806

rs_750891085

7 SubmittersRCV001214086 RCV002241208 RCV004731102

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

CA6989044

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

CA388027256

rs_1958765122

3 SubmittersRCV001205711

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

SNV
Germline

Chr13:51946279

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA698886559

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

CA388026028

rs_1387431334

9 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

CA6988835

rs_747584649

4 SubmittersRCV001236933

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

SNV
Germline

Chr13:51934820

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988417

rs_553861183

4 SubmittersRCV001242516

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

SNV
Germline

Chr13:51970684

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989369

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

CA6989549

rs_756237962

10 SubmittersRCV001242208 RCV002261322

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

SNV
Germline

Chr13:51974364

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388040879

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

CA388021788

rs_1375884723

4 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
not specified

Criteria Provided
Conflicting Classifications

CA250077094

rs_755817220

10 SubmittersRCV001254597 RCV001751521 RCV002451623 RCV005236740

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

SNV
Germline

Chr13:51968521

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6989287

rs_766906034

6 SubmittersRCV001260396

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

SNV
Unknown

Chr13:51941114

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388026103

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

CA388028444

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

CA388029772

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

CA388030094

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

CA388032307

rs_1957660801

1 SubmittersRCV001263754

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

SNV
Germline

Chr13:51950317

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6988982

rs_780292767

2 SubmittersRCV001263755

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

SNV
Unknown

Chr13:51964922

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388030261

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

CA388032644

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

CA388033153

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

CA388042950

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

CA388044858

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

CA388044911

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

CA6989618

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

CA388022198

rs_1957048901

2 SubmittersRCV001267645

NM_000053.4(ATP7B):c.2730G>A (p.Lys910=)

SNV
Germline

Chr13:51950007

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988934

rs_80145681

7 SubmittersRCV001279627 RCV001838470

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

CA6989274

rs_199875471

6 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

CA6989303

rs_551051945

5 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

CA6989528

rs_200605351

6 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

CA388027646

rs_1957388064

4 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

CA388022464

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

CA6989133

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

CA388030081

rs_1951465769

1 SubmittersRCV001290337

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

SNV
Germline

Chr13:51974525

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989509

rs_777932681

4 SubmittersRCV003051042 RCV004784093

NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu)

SNV
Germline

Chr13:51950116

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388034776

rs_121907994

2 SubmittersRCV001322608

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

SNV
Germline

Chr13:51975007

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA484025115

rs_1952036108

2 SubmittersRCV001348458

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

SNV
Germline

Chr13:51935588

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA609962127

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

CA388021578

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

CA6988845

rs_770782111

4 SubmittersRCV001378212 RCV003426062

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

SNV
Germline

Chr13:51950005

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388034028

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

CA250058560

rs_1017756733

5 SubmittersRCV001379176 RCV001509443

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

SNV
Germline

Chr13:51944146

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388029883

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

CA388030192

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

CA250080312

rs_949421614

4 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

CA388031901

rs_747584649

6 SubmittersRCV001389304 RCV003481106

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

SNV
Germline

Chr13:51946480

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388032612

rs_1377418826

3 SubmittersRCV001384960

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

SNV
Germline

Chr13:51957511

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA609968992

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

CA388038506

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

CA388038726

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

CA6988574

rs_572110753

4 SubmittersRCV001414342 RCV003298688

NM_000053.4(ATP7B):c.1050G>A (p.Pro350=)

SNV
Germline

Chr13:51974170

Conflicting classifications of pathogenicity

Wilson disease
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989448

rs_372191499

4 SubmittersRCV001432429 RCV003479331 RCV004681175

NM_000053.4(ATP7B):c.447G>A (p.Val149=)

SNV
Germline

Chr13:51974773

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA484024962

rs_776619662

2 SubmittersRCV001428543

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

SNV
Germline

Chr13:51934992

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988467

rs_745866259

4 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

CA6988690

rs_199924281

7 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

CA2499222474

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

CA483896142

rs_757991922

3 SubmittersRCV001468675

NM_000053.4(ATP7B):c.1910A>G (p.Asn637Ser)

SNV
Germline

Chr13:51961873

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6989178

rs_61733683

4 SubmittersRCV001460044 RCV006453688

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

CA6989280

rs_142187604

4 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

CA6988529

rs_529307157

4 SubmittersRCV001496259

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

SNV
Germline

Chr13:51941172

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988680

rs_201985951

3 SubmittersRCV001492743

NM_000053.4(ATP7B):c.276C>T (p.Ser92=)

SNV
Germline

Chr13:51974944

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA484025411

rs_1952032120

2 SubmittersRCV001494955

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

CA388019785

rs_2138414735

5 SubmittersRCV001506991 RCV003992531

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

SNV
Germline

Chr13:51935030

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388019875

rs_1293549383

3 SubmittersRCV001506990

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

SNV
Germline

Chr13:51937559

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388021882

rs_2138578550

1 SubmittersRCV001507004

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

SNV
Germline

Chr13:51941090

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388025947

rs_2138775370

2 SubmittersRCV001506989

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

SNV
Germline

Chr13:51942482

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388028423

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

CA388030705

rs_1555286633

1 SubmittersRCV001507001

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

SNV
Germline

Chr13:51946285

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388031707

rs_2139046115

2 SubmittersRCV001506983

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

SNV
Germline

Chr13:51950340

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988987

rs_773809011

3 SubmittersRCV001506988

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

SNV
Germline

Chr13:51950341

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388016410

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

CA388020430

rs_2139505830

5 SubmittersRCV001506987

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

SNV
Germline

Chr13:51964870

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388029859

rs_2139767694

4 SubmittersRCV001506984

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

SNV
Germline

Chr13:51968493

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388032819

rs_1179062239

1 SubmittersRCV001506985

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

SNV
Germline

Chr13:51970666

Pathogenic

Wilson disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA388035894

rs_1951795080

5 SubmittersRCV001506997 RCV005503161

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

SNV
Germline

Chr13:51970751

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388036212

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

CA388030529

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

CA388032732

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

CA388029915

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

CA388032027

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

CA388032231

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

CA388020480

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

CA388030308

rs_959916899

1 SubmittersRCV001527075

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

SNV
Germline

Chr13:51965067

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA2499222498

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

CA6989119

rs_767218895

7 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

CA6988863

rs_537498754

2 SubmittersRCV001559287

NM_000053.4(ATP7B):c.432G>T (p.Val144=)

SNV
Germline

Chr13:51974788

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA484024998

rs_2140102093

2 SubmittersRCV001559286

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

SNV
Germline

Chr13:51935629

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988495

rs_776848753

4 SubmittersRCV001580636

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

SNV
Germline

Chr13:51937326

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6988522

rs_760285767

6 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

CA388032391

rs_778163447

2 SubmittersRCV001768925 RCV003609187

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

SNV
Germline

Chr13:51949732

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1566498495

1 SubmittersRCV006531110

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

SNV
Germline

Chr13:51939194

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388024861

rs_2138674428

2 SubmittersRCV002545181 RCV001817789

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

CA6988948

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

CA6989117

rs_751235573

2 SubmittersRCV001823703

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

SNV
Germline

Chr13:51946303

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388031831

rs_2139048200

3 SubmittersRCV003502610 RCV001844588

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

SNV
Germline

Chr13:51942516

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388028751

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

CA250084964

rs_1014184765

3 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

CA388033824

rs_1230241288

6 SubmittersRCV001881506 RCV002261405

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

SNV
Germline

Chr13:51958366

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388021793

rs_776668666

2 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

CA6988947

rs_775553302

3 SubmittersRCV002032183 RCV003923417

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

SNV
Germline

Chr13:51944292

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6988815

rs_780955130

6 SubmittersRCV002037652

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

SNV
Germline

Chr13:51970696

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388035967

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

CA388020125

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

CA388021777

rs_1057516844

1 SubmittersRCV001985854

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

SNV
Germline

Chr13:51937607

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388022165

rs_1566444909

2 SubmittersRCV001951859

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

SNV
Germline

Chr13:51939062

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA6988610

rs_200911496

1 SubmittersRCV002019460

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

SNV
Germline

Chr13:51950399

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388017173

rs_1957924589

1 SubmittersRCV001950954

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

SNV
Germline

Chr13:51960145

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA2573149704

rs_1248002612

1 SubmittersRCV001970185

NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro)

SNV
Germline

Chr13:51974193

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388039449

rs_2140077796

3 SubmittersRCV001937418

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

SNV
Germline

Chr13:51968443

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250064849

rs_377001615

5 SubmittersRCV002030308 RCV005232755

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

SNV
Germline

Chr13:51950275

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388015660

rs_2139220914

1 SubmittersRCV002019924

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

SNV
Germline

Chr13:51958545

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388023592

rs_1319653818

2 SubmittersRCV001976500

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

SNV
Germline

Chr13:51958534

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388023465

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

CA388020308

rs_779494870

2 SubmittersRCV002009173

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

SNV
Germline

Chr13:51942518

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388028775

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

CA6988840

rs_751078884

4 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

CA6988905

rs_776002066

5 SubmittersRCV001997260 RCV002441097

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

SNV
Germline

Chr13:51950005

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388034025

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

CA6988505

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

CA6988527

rs_548512104

5 SubmittersRCV002019163

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

SNV
Germline

Chr13:51958483

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6989091

rs_760713333

5 SubmittersRCV001994832

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

SNV
Germline

Chr13:51970491

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388035011

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

CA388033509

rs_1057517310

3 SubmittersRCV001916111

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

SNV
Germline

Chr13:51942555

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388029063

rs_2138859417

1 SubmittersRCV001933665

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

SNV
Germline

Chr13:51974816

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388044087

rs_2140103116

1 SubmittersRCV001942120

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

SNV
Germline

Chr13:51968608

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388034541

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

CA388020088

rs_1958431105

2 SubmittersRCV001939532

NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys)

SNV
Germline

Chr13:51974034

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989420

rs_763051801

4 SubmittersRCV001920685

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

SNV
Germline

Chr13:51974499

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388041776

rs_2140091906

1 SubmittersRCV001899589

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

SNV
Germline

Chr13:51942528

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388028837

rs_2138857747

1 SubmittersRCV001951276

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

SNV
Germline

Chr13:51949797

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388033956

rs_2139193234

1 SubmittersRCV001972470

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

SNV
Germline

Chr13:51937339

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388021086

rs_2138561490

2 SubmittersRCV002038013

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

SNV
Germline

Chr13:51941200

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388026713

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

CA388019625

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

CA388032453

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

CA388028513

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

CA388022381

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

CA388024554

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

CA388035408

rs_2139962593

1 SubmittersRCV001996052

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

SNV
Germline

Chr13:51942516

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388028758

rs_1957397703

2 SubmittersRCV001951314

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

SNV
Germline

Chr13:51950362

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA6988991

rs_181388674

1 SubmittersRCV002008788

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

SNV
Germline

Chr13:51970498

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388035060

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

CA6989443

rs_759359836

2 SubmittersRCV001958284

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

SNV
Germline

Chr13:51960323

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388026193

rs_1405260211

1 SubmittersRCV002029202

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

SNV
Germline

Chr13:51950075

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388034459

rs_1455758826

7 SubmittersRCV002023924 RCV002548851 RCV002509746

NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro)

SNV
Germline

Chr13:51944182

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988790

rs_373601229

5 SubmittersRCV001918555 RCV006266950

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

SNV
Germline

Chr13:51958371

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388021851

rs_774769813

1 SubmittersRCV001984040

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

SNV
Germline

Chr13:51970750

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388036205

rs_2139975355

1 SubmittersRCV002012409

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

SNV
Germline

Chr13:51944135

Conflicting classifications of pathogenicity

Wilson disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6988778

rs_376112375

6 SubmittersRCV002077425 RCV006269556 RCV006558332

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

SNV
Germline

Chr13:51974044

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA484024600

rs_1951977983

2 SubmittersRCV002084127

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

SNV
Germline

Chr13:51937570

Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988565

rs_121907990

3 SubmittersRCV002248978 RCV006280945

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

SNV
Germline

Chr13:51942385

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388027643

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

CA388021804

rs_2139531503

3 SubmittersRCV002254510 RCV003094178

NM_000053.4(ATP7B):c.3060+2T>C

SNV
Germline

Chr13:51946282

Pathogenic/Likely pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388031687

rs_2139045834

2 SubmittersRCV002275992 RCV005008508

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

SNV
Unknown

Chr13:51974807

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388044071

rs_2547823060

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

CA388022260

rs_2547569054

2 SubmittersRCV002308044

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

SNV
Unknown

Chr13:51942486

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388028459

rs_2547612821

1 SubmittersRCV002309365

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

SNV
Unknown

Chr13:51942533

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388028872

rs_1468895797

1 SubmittersRCV002306926

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

SNV
Unknown

Chr13:51970538

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388035393

rs_2547792957

1 SubmittersRCV002310150

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

SNV
Unknown

Chr13:51970570

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388035542

rs_2547793475

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

CA388027940

rs_2547611839

4 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

CA388044970

rs_2547825108

5 SubmittersRCV002424022 RCV003464547

NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)

SNV
Germline

Chr13:51974984

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA250067779

rs_375470066

4 SubmittersRCV002470334

NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)

SNV
Germline

Chr13:51934758

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388018511

rs_1956854198

2 SubmittersRCV003062588

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

SNV
Germline

Chr13:51934924

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388019487

rs_2547542207

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

CA250073357

rs_753330854

3 SubmittersRCV003062590 RCV003481368

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

SNV
Germline

Chr13:51937385

Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6988535

rs_748644391

3 SubmittersRCV003062591 RCV005638641

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

SNV
Germline

Chr13:51946334

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388032011

rs_1448968475

2 SubmittersRCV003041192

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

SNV
Germline

Chr13:51946381

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388032255

rs_1057518867

2 SubmittersRCV003041193

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

SNV
Germline

Chr13:51946387

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388032279

rs_1337256944

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

CA250084899

rs_1052485948

2 SubmittersRCV003062596

NM_000053.4(ATP7B):c.2753A>C (p.Asp918Ala)

SNV
Germline

Chr13:51949774

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388033861

rs_1245497484

3 SubmittersRCV003062597 RCV003481370

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

SNV
Germline

Chr13:51950286

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388015797

rs_1403129366

1 SubmittersRCV003058423

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

SNV
Germline

Chr13:51950320

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388016173

rs_1452859057

1 SubmittersRCV003062599

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

SNV
Germline

Chr13:51958481

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6989090

rs_773447981

2 SubmittersRCV003041196 RCV005433304

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

SNV
Germline

Chr13:51961836

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388027239

rs_2536829958

1 SubmittersRCV003062602

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

SNV
Germline

Chr13:51968557

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388033175

rs_2547779039

3 SubmittersRCV003062603 RCV004765638

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

SNV
Germline

Chr13:51941244

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA250077396

rs_753758073

1 SubmittersRCV003068971

NM_000053.4(ATP7B):c.52-15T>A

SNV
Germline

Chr13:51975183

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989629

rs_201243102

2 SubmittersRCV003068026

NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)

SNV
Germline

Chr13:51950017

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388034115

rs_2547669800

4 SubmittersRCV003079170

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

SNV
Germline

Chr13:51950362

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA250058572

rs_181388674

2 SubmittersRCV003061598

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

SNV
Germline

Chr13:51944132

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388029831

rs_1196142320

3 SubmittersRCV003091933

NM_000053.4(ATP7B):c.3555C>T (p.Asp1185=)

SNV
Germline

Chr13:51941082

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988664

rs_756751716

2 SubmittersRCV003095322

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

SNV
Germline

Chr13:51960198

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388024710

rs_121908001

2 SubmittersRCV002619246

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

SNV
Germline

Chr13:51944248

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA6988809

rs_753594031

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

CA388016678

rs_1566503575

2 SubmittersRCV002620988

NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)

SNV
Germline

Chr13:51974184

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6989451

rs_201200863

6 SubmittersRCV002644111 RCV003481404

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

SNV
Germline

Chr13:51937275

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388020741

rs_2547563651

2 SubmittersRCV003111923

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

SNV
Germline

Chr13:51950074

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA250085201

rs_935426164

1 SubmittersRCV003111991

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

SNV
Germline

Chr13:51944263

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388030533

rs_2138958110

1 SubmittersRCV003112286

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

SNV
Germline

Chr13:51958462

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388022712

rs_2547715854

2 SubmittersRCV003112288

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

SNV
Germline

Chr13:51974966

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388044728

rs_786204643

4 SubmittersRCV003119308

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

SNV
Germline

Chr13:51974985

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA484025051

rs_2547824726

3 SubmittersRCV002626272

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

SNV
Germline

Chr13:51950057

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388034344

rs_1957898729

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

CA388019493

rs_2547542223

2 SubmittersRCV002618588

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

SNV
Germline

Chr13:51960320

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA250060448

rs_375542827

3 SubmittersRCV002646181

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

SNV
Germline

Chr13:51942502

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388028596

rs_2547613010

2 SubmittersRCV002824276

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

SNV
Germline

Chr13:52011285

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388047542

rs_2547323392

1 SubmittersRCV002802208

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

SNV
Germline

Chr13:51974317

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388040499

rs_942967963

1 SubmittersRCV002843912

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

SNV
Germline

Chr13:51942514

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388028724

rs_1555285891

2 SubmittersRCV002858414

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

SNV
Germline

Chr13:51935592

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388019924

rs_1956910096

2 SubmittersRCV002889935

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

SNV
Germline

Chr13:51939194

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388024860

rs_2138674428

1 SubmittersRCV002918406

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

SNV
Germline

Chr13:51941244

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA2091559662

rs_753758073

2 SubmittersRCV002932130

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

SNV
Germline

Chr13:51958484

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388022952

rs_1459023925

3 SubmittersRCV002949543

NM_000053.4(ATP7B):c.2731G>A (p.Ala911Thr)

SNV
Germline

Chr13:51949796

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388033951

rs_2547667619

3 SubmittersRCV002996526 RCV005642882

NM_000053.4(ATP7B):c.62A>T (p.Lys21Met)

SNV
Germline

Chr13:51975158

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6989623

rs_199514391

4 SubmittersRCV002995715 RCV004593117 RCV005288866

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

SNV
Germline

Chr13:51946291

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388031755

rs_371840514

1 SubmittersRCV003002678

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

SNV
Germline

Chr13:51949765

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388033823

rs_1230241288

1 SubmittersRCV003002679

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

SNV
Germline

Chr13:51946358

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388032164

rs_2547646291

1 SubmittersRCV002996807

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

SNV
Germline

Chr13:51960161

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388024132

rs_767218895

1 SubmittersRCV002996745

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

SNV
Germline

Chr13:51949676

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388033268

rs_2547665922

1 SubmittersRCV003022482

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

SNV
Germline

Chr13:51946345

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388032072

rs_1957653671

4 SubmittersRCV003045696 RCV005406563

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

SNV
Germline

Chr13:51944146

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388029880

rs_201738147

1 SubmittersRCV003059221

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

SNV
Germline

Chr13:51950159

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388015426

rs_750154146

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

CA388038792

rs_770175227

2 SubmittersRCV003036059 RCV003348983

NM_000053.4(ATP7B):c.1707+17C>A

SNV
Germline

Chr13:51968427

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA6989267

rs_199571857

5 SubmittersRCV003120127 RCV005419593

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

SNV
Germline

Chr13:51941179

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388026573

rs_1290927406

1 SubmittersRCV003136663

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

SNV
Germline

Chr13:51957609

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388020429

rs_2139505830

2 SubmittersRCV003226770

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

SNV
Germline

Chr13:51950069

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388034432

rs_786204718

1 SubmittersRCV003233350

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

SNV
Germline

Chr13:51944125

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388029805

rs_2547626863

1 SubmittersRCV003314377

NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)

SNV
Germline

Chr13:51950103

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388034710

rs_2547671027

2 SubmittersRCV003314446

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

SNV
Germline

Chr13:51937283

Conflicting classifications of pathogenicity

Wilson disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA483893454

rs_762097856

4 SubmittersRCV003322655 RCV004676190

NM_000053.4(ATP7B):c.2866-1521G>A

SNV
Germline

Chr13:51947999

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

CA250083335

rs_915988161

2 SubmittersRCV003326881 RCV006561424

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

SNV
Germline

Chr13:51942487

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388028466

rs_764041557

1 SubmittersRCV003388390

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

SNV
Germline

Chr13:51937394

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388021301

rs_773601432

1 SubmittersRCV003445295

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

SNV
Unknown

Chr13:51974914

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388044520

rs_1342474321

1 SubmittersRCV003464951

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

SNV
Germline

Chr13:51958359

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388021743

rs_2547714865

2 SubmittersRCV003464954 RCV005062968

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

SNV
Unknown

Chr13:51935592

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388019923

rs_1956910096

1 SubmittersRCV003464956

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

SNV
Germline

Chr13:51935633

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388020094

rs_2547551142

2 SubmittersRCV003464958

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

SNV
Unknown

Chr13:51937675

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388022657

rs_1957053765

1 SubmittersRCV003464961

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

SNV
Germline

Chr13:51937290

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388020811

rs_1957026103

3 SubmittersRCV003464963 RCV006455667

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

SNV
Unknown

Chr13:51958310

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388020437

rs_2547714364

1 SubmittersRCV003464965

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

SNV
Unknown

Chr13:51975170

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388045440

rs_2547826614

1 SubmittersRCV003464968

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

SNV
Germline

Chr13:51957556

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388020302

rs_1409618843

3 SubmittersRCV003464927 RCV004701071

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

SNV
Unknown

Chr13:52011285

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388047536

rs_2547323392

1 SubmittersRCV003464928

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

SNV
Unknown

Chr13:51960315

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388026108

rs_1958647126

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

CA388034544

rs_1555294398

2 SubmittersRCV003464932

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

SNV
Germline

Chr13:51939188

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA388024828

rs_1432190775

3 SubmittersRCV003464935

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

SNV
Germline

Chr13:51970491

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388035014

rs_1360279134

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

CA388023975

rs_751235573

2 SubmittersRCV003464941

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

SNV
Unknown

Chr13:51946300

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388031811

rs_1334355798

1 SubmittersRCV003464942

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

SNV
Germline

Chr13:51944152

Conflicting classifications of pathogenicity

Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388029924

rs_2085422358

3 SubmittersRCV003464946 RCV006269843

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

SNV
Unknown

Chr13:51957511

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA2695199744

rs_1369012080

1 SubmittersRCV003464948

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

SNV
Germline

Chr13:51961914

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388028177

rs_780361833

2 SubmittersRCV003486306

NM_000053.4(ATP7B):c.2296A>C (p.Thr766Pro)

SNV
Germline

Chr13:51958370

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2547715052

1 SubmittersRCV004595710

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

SNV
Germline

Chr13:51934845

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988427

rs_768833241

4 SubmittersRCV004011346

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

SNV
Germline

Chr13:51970558

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388035484

rs_2547793319

1 SubmittersRCV003502863

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

SNV
Germline

Chr13:51946286

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388031711

rs_2547644949

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

CA6989103

rs_769864947

3 SubmittersRCV003503862

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

SNV
Germline

Chr13:51974650

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388042654

rs_2140096468

1 SubmittersRCV003503669

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

SNV
Germline

Chr13:51935002

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388019749

rs_1431633756

1 SubmittersRCV003502202

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

SNV
Germline

Chr13:51937359

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388021152

rs_2547564954

1 SubmittersRCV003504571

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

SNV
Germline

Chr13:51944230

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388030304

rs_2547628381

2 SubmittersRCV003504573

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

SNV
Germline

Chr13:51944294

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA2695218757

rs_2547629434

1 SubmittersRCV003504574

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

SNV
Germline

Chr13:51960149

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388024031

rs_2547724461

3 SubmittersRCV003504575

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

SNV
Germline

Chr13:51974758

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388043969

rs_771654032

1 SubmittersRCV003502178

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

SNV
Germline

Chr13:51942515

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388028743

rs_2547613268

1 SubmittersRCV003503301

NM_000053.4(ATP7B):c.3904-11C>T

SNV
Germline

Chr13:51937404

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2697551866

rs_2547565798

3 SubmittersRCV003503424 RCV004703323

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

SNV
Germline

Chr13:51958531

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388023421

rs_2547716524

1 SubmittersRCV003503968

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

SNV
Germline

Chr13:51937564

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388021924

rs_1957045038

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

CA388018852

rs_1341172185

2 SubmittersRCV003609524

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

SNV
Germline

Chr13:51941105

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388026029

rs_1387431334

1 SubmittersRCV003609543

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

SNV
Germline

Chr13:51975169

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388045438

rs_1057517351

2 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

CA250071444

rs_780486131

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

CA483894624

rs_2547626897

2 SubmittersRCV003609085

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

SNV
Germline

Chr13:51949764

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388033818

rs_1052485948

1 SubmittersRCV003610662

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

SNV
Germline

Chr13:51968539

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388033037

rs_2547778738

2 SubmittersRCV003610723

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

SNV
Germline

Chr13:51974437

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA484024993

rs_1272518428

2 SubmittersRCV003610749

NM_000053.4(ATP7B):c.1161G>A (p.Val387=)

SNV
Germline

Chr13:51974059

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989428

rs_748788136

3 SubmittersRCV003609768

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

SNV
Germline

Chr13:51975181

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989627

rs_750693417

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

CA250066995

rs_942967963

2 SubmittersRCV003609989

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

SNV
Germline

Chr13:51964871

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388029866

rs_1951463905

1 SubmittersRCV003842962

NM_000053.4(ATP7B):c.2447+16C>T

SNV
Germline

Chr13:51957500

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989021

rs_368512324

2 SubmittersRCV003841496

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

SNV
Germline

Chr13:51941235

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988696

rs_369312119

2 SubmittersRCV003870527

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

SNV
Germline

Chr13:51949681

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease
not specified

Criteria Provided
Conflicting Classifications

CA388033295

rs_1169959260

3 SubmittersRCV003886907 RCV004006180 RCV005433491

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

SNV
Germline

Chr13:51950116

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388034775

rs_121907994

1 SubmittersRCV003990492

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

SNV
Germline/somatic

Chr13:51974966

Conflicting classifications of pathogenicity

Wilson disease
Neoplasm

Criteria Provided
Conflicting Classifications

CA388044726

rs_786204643

3 SubmittersRCV003990607 RCV004674011

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

SNV
Germline

Chr13:51942386

Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388027653

rs_2547611249

2 SubmittersRCV003991515 RCV005865704

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

SNV
Germline

Chr13:51935614

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA6988490

rs_749171049

1 SubmittersRCV003991656

NM_000053.4(ATP7B):c.1301A>T (p.Asn434Ile)

SNV
Germline

Chr13:51970734

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6989379

rs_762859925

2 SubmittersRCV004008096

NM_000053.4(ATP7B):c.2448-13G>T

SNV
Germline

Chr13:51950412

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA2825002199

rs_1361076729

2 SubmittersRCV004008126

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

SNV
Germline

Chr13:51939049

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388023505

rs_1322206611

1 SubmittersRCV004013946

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

SNV
Germline

Chr13:51949700

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388033418

rs_28942076

1 SubmittersRCV004012204

NM_000053.4(ATP7B):c.4016C>T (p.Ala1339Val)

SNV
Germline

Chr13:51937281

Conflicting classifications of pathogenicity

Wilson disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388020763

rs_2547563737

3 SubmittersRCV004016724 RCV004810667

NM_000053.4(ATP7B):c.2869C>T (p.Pro957Ser)

SNV
Germline

Chr13:51946475

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

CA6988875

rs_759416152

2 SubmittersRCV004017123

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

SNV
Germline

Chr13:51958443

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388022531

rs_1958499640

1 SubmittersRCV004016536

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

SNV
Germline

Chr13:51957597

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388020399

rs_1593722956

3 SubmittersRCV004016546

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

SNV
Germline

Chr13:51974317

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

CA388040500

rs_942967963

2 SubmittersRCV004018127

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

SNV
Germline

Chr13:51974799

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

CA388044054

rs_1952025232

1 SubmittersRCV004018128

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

SNV
Germline

Chr13:51949798

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_367956522

1 SubmittersRCV004560369

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

SNV
Germline

Chr13:51974659

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_1162659137

1 SubmittersRCV004576173

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

SNV
Germline

Chr13:51937628

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2547569168

1 SubmittersRCV004576174

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

SNV
Germline

Chr13:51974856

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_746662232

1 SubmittersRCV004576175

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

SNV
Germline

Chr13:51935668

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

rs_764603742

2 SubmittersRCV004573939

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

SNV
Germline

Chr13:51968439

Pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2547777444

2 SubmittersRCV004573950

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

SNV
Unknown

Chr13:51950400

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

rs_2547674633

1 SubmittersRCV004573952

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

SNV
Germline

Chr13:51941192

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957309469

2 SubmittersRCV004577239

NM_000053.4(ATP7B):c.2968G>C (p.Ala990Pro)

SNV
Unknown

Chr13:51946376

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004720567

NM_000053.4(ATP7B):c.2395C>T (p.Gln799Ter)

SNV
Germline

Chr13:51957568

Pathogenic

ATP7B-related disorder
Wilson disease

Criteria Provided
Single Submitter

2 SubmittersRCV004732198 RCV005103647

NM_000053.4(ATP7B):c.1488C>T (p.Gly496=)

SNV
Germline

Chr13:51970547

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004771403

NM_000053.4(ATP7B):c.2075T>C (p.Leu692Pro)

SNV
Germline

Chr13:51960194

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004766858

NM_000053.4(ATP7B):c.3916G>T (p.Asp1306Tyr)

SNV
Germline

Chr13:51937381

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004777523 RCV005105021

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

SNV
Germline

Chr13:51964871

Conflicting classifications of pathogenicity

Condition: not provided
Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004792257 RCV004805143

NM_000053.4(ATP7B):c.4003G>C (p.Gly1335Arg)

SNV
Germline

Chr13:51937294

Pathogenic/Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004797302

NM_000053.4(ATP7B):c.4120A>C (p.Lys1374Gln)

SNV
Germline

Chr13:51935597

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004807532

NM_000053.4(ATP7B):c.3835G>T (p.Asp1279Tyr)

SNV
Germline

Chr13:51937544

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV004807619

NM_000053.4(ATP7B):c.2293G>C (p.Asp765His)

SNV
Germline

Chr13:51958373

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004807988 RCV006435414

NM_000053.4(ATP7B):c.3904-12C>T

SNV
Germline

Chr13:51937405

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005006920

NM_000053.4(ATP7B):c.3796G>T (p.Gly1266Trp)

SNV
Germline

Chr13:51937583

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005006921

NM_000053.4(ATP7B):c.3699+1G>T

SNV
Germline

Chr13:51939050

Likely pathogenic

Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005006924

NM_000053.4(ATP7B):c.3563T>C (p.Leu1188Pro)

SNV
Germline

Chr13:51939187

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005006926

NM_000053.4(ATP7B):c.3274A>C (p.Thr1092Pro)

SNV
Germline

Chr13:51942524

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005006933

NM_000053.4(ATP7B):c.2705T>C (p.Leu902Pro)

SNV
Germline

Chr13:51950032

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005006939

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

SNV
Germline

Chr13:51950341

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005006944

NM_000053.4(ATP7B):c.2122-6T>C

SNV
Germline

Chr13:51958550

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005006951

NM_000053.4(ATP7B):c.1543+40G>A

SNV
Germline

Chr13:51970452

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

4 SubmittersRCV005006956

NM_000053.4(ATP7B):c.79C>T (p.Arg27Cys)

SNV
Germline

Chr13:51975141

Conflicting classifications of pathogenicity

Wilson disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005006976

NM_000053.4(ATP7B):c.51+5G>A

SNV
Germline

Chr13:52011282

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005006977

NM_000053.4(ATP7B):c.1543G>A (p.Gly515Ser)

SNV
Germline

Chr13:51970492

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005075336

NM_000053.4(ATP7B):c.4010C>G (p.Pro1337Arg)

SNV
Germline

Chr13:51937287

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005077283

NM_000053.4(ATP7B):c.3234C>G (p.Tyr1078Ter)

SNV
Germline

Chr13:51944118

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005128233

NM_000053.4(ATP7B):c.3859G>T (p.Gly1287Cys)

SNV
Germline

Chr13:51937520

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005179587

NM_000053.4(ATP7B):c.3424C>T (p.Gln1142Ter)

SNV
Germline

Chr13:51941213

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005203182

NM_000053.4(ATP7B):c.4279C>T (p.Gln1427Ter)

SNV
Germline

Chr13:51934875

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

2 SubmittersRCV005232605

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

SNV
Germline

Chr13:51935592

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005234191

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

SNV
Unknown

Chr13:51942385

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005234916

NM_000053.4(ATP7B):c.463C>T (p.Gln155Ter)

SNV
Germline

Chr13:51974757

Pathogenic

Condition: not provided
Wilson disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005250587 RCV006489462

NM_000053.4(ATP7B):c.3188C>G (p.Ala1063Gly)

SNV
Germline

Chr13:51944164

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005865746

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

SNV
Germline

Chr13:51950006

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

1 SubmittersRCV005610273

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

SNV
Germline

Chr13:51957514

Pathogenic

Wilson disease

No Assertion Criteria Provided

1 SubmittersRCV005614936

NM_000053.4(ATP7B):c.2299C>T (p.Pro767Ser)

SNV
Germline

Chr13:51958367

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

1 SubmittersRCV005610276

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

SNV
Germline

Chr13:51964870

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

1 SubmittersRCV005610278

NM_000053.4(ATP7B):c.3091A>G (p.Thr1031Ala)

SNV
Germline

Chr13:51944261

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

2 SubmittersRCV005614946

NM_000053.4(ATP7B):c.3800A>T (p.Asp1267Val)

SNV
Germline

Chr13:51937579

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

1 SubmittersRCV005610234

NM_000053.4(ATP7B):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr13:51974538

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

2 SubmittersRCV005610243

NM_000053.4(ATP7B):c.1285+1G>T

SNV
Germline

Chr13:51973934

Likely pathogenic

Wilson disease

No Assertion Criteria Provided

1 SubmittersRCV005610256

NM_000053.4(ATP7B):c.1946+2T>C

SNV
Unknown

Chr13:51961835

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV005637840

NM_000053.4(ATP7B):c.3962T>A (p.Ile1321Lys)

SNV
Germline

Chr13:51937335

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006613622

NM_000053.4(ATP7B):c.2993G>A (p.Gly998Asp)

SNV
Germline

Chr13:51946351

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006252598

NM_000053.4(ATP7B):c.51+1G>C

SNV
Germline

Chr13:52011286

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006252624

NM_000053.4(ATP7B):c.2279C>A (p.Pro760His)

SNV
Germline

Chr13:51958387

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006569392

NM_000053.4(ATP7B):c.4159C>T (p.Gln1387Ter)

SNV
Germline

Chr13:51934995

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006506339

NM_000053.4(ATP7B):c.1870-2A>G

SNV
Germline

Chr13:51961915

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006509830

NM_000053.4(ATP7B):c.1807A>T (p.Lys603Ter)

SNV
Germline

Chr13:51964934

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006521035

NM_000053.4(ATP7B):c.3737C>A (p.Ser1246Ter)

SNV
Germline

Chr13:51937642

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006519699

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

SNV
Germline

Chr13:51958310

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006519767

NM_000053.4(ATP7B):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr13:51975054

Pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006549477

NM_000053.4(ATP7B):c.253G>A (p.Gly85Ser)

SNV
Germline

Chr13:51974967

Likely pathogenic

Wilson disease

Criteria Provided
Single Submitter

1 SubmittersRCV006631437