Total 1013 pathogenic variants reported for Wilson disease 
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

42 SubmittersRCV000004052RCV000078049RCV002321470

NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) SNV
Germline
Chr13:51937583 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA252890 rs_121907992

18 SubmittersRCV000004053RCV001507825

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

17 SubmittersRCV000004054RCV001579816RCV005411279

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

21 SubmittersRCV000004055RCV001091639

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

23 SubmittersRCV000004056RCV000389880RCV002444420RCV003398441

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

10 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

14 SubmittersRCV000004060RCV001091638

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

11 SubmittersRCV000004061RCV001818123RCV004678595

NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) SNV
Germline
Chr13:51937570 Pathogenic Wilson disease
Condition: not provided
ATP7B-related disorder
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA252896 rs_121907990

24 SubmittersRCV000004063RCV000595271RCV003904803RCV002354147

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 SubmittersRCV000004064RCV000270891RCV003904804RCV005512700

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 SubmittersRCV000004066RCV001508347RCV002408449RCV003398442

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

17 SubmittersRCV000023582RCV000727509RCV002453275

NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) SNV
Germline
Chr13:51974355 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA252900 rs_121907999

14 SubmittersRCV000004068RCV000421016

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 SubmittersRCV000004069RCV000597397

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

18 SubmittersRCV000029352RCV000374856RCV000514302RCV002390119RCV003934854

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

10 SubmittersRCV000029354RCV001508345RCV003398570

NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) SNV
Germline
Chr13:51958361 Pathogenic Wilson disease
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA171300 rs_193922103

18 SubmittersRCV000029355RCV000078041RCV002444440

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

21 SubmittersRCV000029359RCV000790662RCV002433469RCV003924861RCV005411298

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

9 SubmittersRCV000029360RCV000726685RCV002433470RCV003407364RCV005406760

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 SubmittersRCV000029361RCV000255583RCV002513236RCV003904863

NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) SNV
Germline
Chr13:51946299 Conflicting classifications of pathogenicity Wilson disease
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA171306 rs_1801248

22 SubmittersRCV000029365RCV000145268RCV002444441

NM_000053.4(ATP7B):c.3557-6C>T SNV
Germline
Chr13:51939199 Conflicting classifications of pathogenicity Wilson disease
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA260142 rs_140708492

14 SubmittersRCV000029371RCV000248416RCV000488125

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

11 SubmittersRCV000029372RCV000439420RCV001579583

NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) SNV
Germline
Chr13:51939091 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA260145 rs_193922107

9 SubmittersRCV000029374RCV000413521

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 SubmittersRCV000029377RCV000494120RCV002371783RCV004751225

NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) SNV
Germline
Chr13:51935659 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA260150 rs_193922110

11 SubmittersRCV000029378RCV000415977

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 SubmittersRCV000029379RCV000224611RCV000251030

NM_000053.4(ATP7B):c.*16G>A SNV
Germline
Chr13:51934740 Conflicting classifications of pathogenicity Wilson disease
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA260156 rs_193922100

4 SubmittersRCV000029383RCV001420713RCV000865113

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 SubmittersRCV000487499RCV000670794RCV004017388

NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) SNV
Germline
Chr13:51958356 Conflicting classifications of pathogenicity not specified
Wilson disease
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA145672 rs_398123136

11 SubmittersRCV000078042RCV000631249RCV001310698RCV003162506

NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) SNV
Germline
Chr13:51942429 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA145683 rs_61733679

11 SubmittersRCV000078050RCV000588949RCV000302449RCV002453394

NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) SNV
Germline
Chr13:51937490 Conflicting classifications of pathogenicity not specified
Wilson disease
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA145689 rs_148399850

15 SubmittersRCV000078053RCV000490530RCV002354273RCV003333954

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

10 SubmittersRCV000436240RCV001001253RCV003935015RCV005237518

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 SubmittersRCV000175511RCV001201260

NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) SNV
Germline
Chr13:51958538 Pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA270731 rs_137853285

17 SubmittersRCV000144365RCV000497757

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

13 SubmittersRCV000144367RCV001092072

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

16 SubmittersRCV000144368RCV000724020RCV002453462

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 SubmittersRCV000144369RCV003480060

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 SubmittersRCV000145251RCV000416017RCV002514798RCV004751288

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

17 SubmittersRCV000145253RCV000415842RCV003162602RCV004751289

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

5 SubmittersRCV000145255RCV000590476

NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) SNV
Germline
Chr13:51960274 Conflicting classifications of pathogenicity Wilson disease
Epileptic encephalopathy
Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA271169 rs_72552259

20 SubmittersRCV000145256RCV000415012RCV000498564RCV000855573RCV002415630

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

7 SubmittersRCV000145257RCV000427356RCV002265624

NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) SNV
Germline
Chr13:51958374 Conflicting classifications of pathogenicity not specified
Wilson disease
ATP7B-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA171298 rs_372979339

13 SubmittersRCV000145260RCV000855544RCV003895023RCV002225450

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 SubmittersRCV000145262RCV000586589RCV000607602

NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) SNV
Germline
Chr13:51950132 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA271172 rs_191312027

27 SubmittersRCV000145263RCV000413599RCV000623574RCV003415974

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

7 SubmittersRCV000145266RCV004700462

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 SubmittersRCV000145270RCV000675167RCV001508710

NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) SNV
Germline
Chr13:51942474 Conflicting classifications of pathogenicity Wilson disease
Inborn genetic diseases
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA271175 rs_372456815

11 SubmittersRCV000145272RCV002321620RCV001707533RCV005431488

NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) SNV
Germline
Chr13:51941139 Conflicting classifications of pathogenicity not specified
Wilson disease
ATP7B-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA171319 rs_587783314

7 SubmittersRCV000145276RCV000350613RCV003895024RCV002453467

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

7 SubmittersRCV000145277RCV000667056RCV001576695

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

4 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

11 SubmittersRCV000145281RCV003895025

NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) SNV
Germline
Chr13:51935019 Conflicting classifications of pathogenicity not specified
Wilson disease
Condition: not provided
Inborn genetic diseases
See cases
ATP7B-related disorder
Criteria Provided
Conflicting Classifications
CA271180 rs_181250704

19 SubmittersRCV000309770RCV000763902RCV000587055RCV002326851RCV002252001RCV004751290

NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) SNV
Germline
Chr13:51937493 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA272855 rs_199821556

12 SubmittersRCV000148375RCV001091634

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 SubmittersRCV000169268RCV003480071

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 SubmittersRCV000169321RCV000726684

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

12 SubmittersRCV000169572RCV004751319

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

13 SubmittersRCV000169558RCV001310695

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

11 SubmittersRCV000169211RCV000725176

NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) SNV
Germline
Chr13:51939152 Pathogenic/Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
CA274326 rs_786204658

3 SubmittersRCV000169453

NM_000053.4(ATP7B):c.3556+1G>A SNV
Germline
Chr13:51941080 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA274325 rs_184388696

9 SubmittersRCV000169452RCV003159558

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

15 SubmittersRCV000169260RCV002254281RCV002453567

NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) SNV
Germline
Chr13:51941120 Pathogenic/Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
CA274321 rs_756029120

10 SubmittersRCV000169445

NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) SNV
Germline
Chr13:51941186 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
ATP7B-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA274020 rs_755554442

14 SubmittersRCV000169188RCV001596981RCV003422061

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

10 SubmittersRCV000169142

NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) SNV
Germline
Chr13:51942535 Pathogenic Wilson disease
ATP7B-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA274082 rs_753250853

14 SubmittersRCV000169240RCV003907530RCV001557295

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 SubmittersRCV000169327RCV003480072RCV004730892

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

12 SubmittersRCV000169019RCV001558241RCV003390880

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

15 SubmittersRCV000169109RCV001508716RCV001814079

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

15 SubmittersRCV000169133RCV000415237RCV003311702

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

15 SubmittersRCV000169179RCV000362786RCV002433726

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

9 SubmittersRCV000169455RCV001531800

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

15 SubmittersRCV000169002RCV001509440RCV004751314

NM_000053.4(ATP7B):c.2731-2A>G SNV
Germline
Chr13:51949798 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Inborn genetic diseases
ATP7B-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA273891 rs_367956522

17 SubmittersRCV000169025RCV000485754RCV002433725RCV003927563

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

10 SubmittersRCV000169535RCV000514615

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

7 SubmittersRCV000169063RCV001582664

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

11 SubmittersRCV000169233RCV000333003

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

13 SubmittersRCV000169151RCV004813069

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 SubmittersRCV000169521RCV001508348

NM_000053.4(ATP7B):c.1285+2T>A SNV
Germline
Chr13:51973933 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA274399 rs_759749626

6 SubmittersRCV000169532RCV003480073

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

22 SubmittersRCV000169298RCV000724151RCV001823123RCV004751316

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

5 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 SubmittersRCV000169629RCV000293037

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

10 SubmittersRCV000174213RCV000587605RCV001081569RCV003955024

NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) SNV
Germline
Chr13:51941132 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA277193 rs_749085322

6 SubmittersRCV000193725RCV004791316

NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) SNV
Germline
Chr13:51944283 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Wilson disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA205295 rs_187343742

11 SubmittersRCV000192460RCV002444776RCV000948469RCV001566425

NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) SNV
Germline
Chr13:51964969 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA277133 rs_797045402

7 SubmittersRCV000193403RCV002254284

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
Condition: not provided
Inborn genetic diseases
Wilson disease
Criteria Provided
Conflicting Classifications
CA6988719 rs_145887771

10 SubmittersRCV000251888RCV003391012RCV002450763RCV001001299

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 SubmittersRCV000242957RCV000727508RCV001111075

NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) SNV
Germline
Chr13:51950363 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Wilson disease
Criteria Provided
Conflicting Classifications
CA6988992 rs_570594838

12 SubmittersRCV000245085RCV001699268RCV004965354RCV000907046

NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) SNV
Germline
Chr13:51968531 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6989290 rs_145798966

17 SubmittersRCV000244316RCV000590083RCV001086715RCV002401951

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 SubmittersRCV000252542RCV000286518

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 SubmittersRCV000267893RCV000631245RCV001311346

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

9 SubmittersRCV000327770RCV001582911RCV001242406

NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) SNV
Germline
Chr13:51946389 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Inborn genetic diseases
ATP7B-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA6988855 rs_116587608

15 SubmittersRCV000725741RCV001080148RCV002436109RCV003947909RCV002509346

NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) SNV
Germline
Chr13:51937593 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6988568 rs_375007352

8 SubmittersRCV000276921RCV001082927RCV002348016

NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) SNV
Germline
Chr13:51941215 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6988687 rs_757549770

10 SubmittersRCV000372640RCV003151766RCV000780935

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

13 SubmittersRCV000308454RCV003223635RCV004751452

NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) SNV
Germline
Chr13:51950303 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
ATP7B-related disorder
Criteria Provided
Conflicting Classifications
CA6988981 rs_200996053

13 SubmittersRCV000261389RCV000859330RCV003422258

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

16 SubmittersRCV000306439RCV000610248RCV000873189RCV002446564

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

8 SubmittersRCV000271169RCV001711923RCV003930333

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

16 SubmittersRCV000395391RCV000506750RCV001558379RCV002321983

NM_000053.4(ATP7B):c.1543+13C>T SNV
Germline
Chr13:51970479 Conflicting classifications of pathogenicity Wilson disease
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6989328 rs_200171850

5 SubmittersRCV000341242RCV000423547RCV000415979

NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) SNV
Germline
Chr13:51973990 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6989410 rs_772843652

6 SubmittersRCV000396679RCV001579443

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
Criteria Provided
Conflicting Classifications
CA6989439 rs_201254466

8 SubmittersRCV000277263RCV003930334RCV004678673RCV004719091

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 SubmittersRCV000313711RCV000425182RCV001269200

NM_000053.4(ATP7B):c.51+4A>T SNV
Germline
Chr13:52011283 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6989708 rs_369488210

21 SubmittersRCV000324263RCV001729524

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

20 SubmittersRCV000331049RCV000455157RCV000757022RCV002522293RCV004751451

NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) SNV
Germline
Chr13:51942402 Conflicting classifications of pathogenicity Wilson disease
Inborn genetic diseases
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6988720 rs_370947152

11 SubmittersRCV000395395RCV002450860RCV001356076RCV002469127

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

6 SubmittersRCV000367067RCV001575381

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

5 SubmittersRCV000354484

NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) SNV
Germline
Chr13:51974550 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6989518 rs_200563529

8 SubmittersRCV000259729RCV000755836RCV000779819RCV002520888

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 SubmittersRCV000311850RCV002262973

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 SubmittersRCV000360445RCV001576381

NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) SNV
Germline
Chr13:51934969 Conflicting classifications of pathogenicity Wilson disease
not specified
Criteria Provided
Conflicting Classifications
CA10644746 rs_368801566

5 SubmittersRCV000270155RCV002469126

NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) SNV
Germline
Chr13:51942523 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6988748 rs_368545738

9 SubmittersRCV000343352RCV002261043RCV002282117

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

8 SubmittersRCV000363247RCV000605266RCV004597776RCV004751453

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

16 SubmittersRCV000388607RCV000999521RCV004751454

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 SubmittersRCV000411074RCV001507824

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 SubmittersRCV000412086RCV001531799

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 SubmittersRCV000411980RCV001508707

NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) SNV
Germline
Chr13:51942503 Pathogenic/Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
CA6988744 rs_761632029

8 SubmittersRCV000410034

NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) SNV
Germline
Chr13:51944161 Pathogenic/Likely pathogenic Wilson disease
Inborn genetic diseases
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6988781 rs_374094065

17 SubmittersRCV000411652RCV002323574RCV001091637

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

6 SubmittersRCV000410917RCV003480625

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
Single Submitter
CA16041678 rs_1057516305

2 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 SubmittersRCV000415306RCV001198322

NM_000053.4(ATP7B):c.3243+5G>A SNV
Germline
Chr13:51944104 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
not specified
Criteria Provided
Conflicting Classifications
CA6988773 rs_373193482

11 SubmittersRCV000441386RCV001785612RCV002298584

NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) SNV
Germline
Chr13:51950277 Pathogenic/Likely pathogenic Condition: not provided
Wilson disease
Criteria Provided
Multiple Submitters
No Conflicts
CA16606473 rs_1057520235

4 SubmittersRCV000430661RCV000667536

NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) SNV
Germline
Chr13:51944192 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6988791 rs_377586515

7 SubmittersRCV000424597RCV000959396RCV003352863

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 SubmittersRCV000440735RCV000631244RCV001721333

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

4 SubmittersRCV000423231RCV001861551

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 SubmittersRCV000441986RCV001113268

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

12 SubmittersRCV000428724RCV000590019RCV001081467RCV002451013RCV003932647

NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) SNV
Germline
Chr13:51946439 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Criteria Provided
Conflicting Classifications
CA6988868 rs_774028495

6 SubmittersRCV000434557RCV000780936

NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) SNV
Germline
Chr13:51961861 Conflicting classifications of pathogenicity Condition: not provided
not specified
Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6989172 rs_186924074

14 SubmittersRCV000587060RCV001263514RCV000631248RCV002525825

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 SubmittersRCV000487838RCV005056064

NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) SNV
Germline
Chr13:51937305 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA388020881 rs_1131691741

3 SubmittersRCV000494555RCV000984147RCV002527096

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 SubmittersRCV000495835RCV003480655

NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) SNV
Germline
Chr13:51974873 Conflicting classifications of pathogenicity Condition: not provided
not specified
Wilson disease
ATP7B-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6989581 rs_199773340

13 SubmittersRCV000755833RCV001532891RCV001239682RCV003925432RCV004023329

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

7 SubmittersRCV000507116RCV000945359RCV003480658

NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) SNV
Germline
Chr13:51934941 Conflicting classifications of pathogenicity not specified
Condition: not provided
Wilson disease
Criteria Provided
Conflicting Classifications
CA6988455 rs_189601972

11 SubmittersRCV003488645RCV000513406RCV000670982

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

16 SubmittersRCV000532036RCV001091641RCV002448619

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 SubmittersRCV000525049RCV001509446

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

10 SubmittersRCV000541103RCV001507826RCV002350175

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 SubmittersRCV000548917RCV003480668

NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) SNV
Germline
Chr13:51935653 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Criteria Provided
Conflicting Classifications
CA388020155 rs_1305262063

2 SubmittersRCV000590198RCV003609157

NM_000053.4(ATP7B):c.3556+1G>T SNV
Germline
Chr13:51941080 Pathogenic/Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
CA388025828 rs_184388696

4 SubmittersRCV000587514

NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) SNV
Germline
Chr13:51941185 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Criteria Provided
Conflicting Classifications
CA6988682 rs_377297166

7 SubmittersRCV000586771RCV000666672

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.2131G>A (p.Gly711Arg) SNV
Germline
Chr13:51958535 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA388023479 rs_1394999756

4 SubmittersRCV000586389RCV003326468

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

8 SubmittersRCV000588787RCV003480706

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 SubmittersRCV000589895RCV001459906RCV005502840

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

12 SubmittersRCV000674801RCV002261126

NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) SNV
Germline
Chr13:51960276 Conflicting classifications of pathogenicity Condition: not provided
not specified
Wilson disease
Inborn genetic diseases
ATP7B-related disorder
Criteria Provided
Conflicting Classifications
CA6989142 rs_146303208

15 SubmittersRCV000587250RCV001003423RCV001001851RCV002530885RCV003905504

NM_000053.4(ATP7B):c.445G>A (p.Val149Met) SNV
Germline
Chr13:51974775 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6989561 rs_200606656

9 SubmittersRCV000589823RCV001111262RCV002530887

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 SubmittersRCV000586978RCV002223878

NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) SNV
Germline
Chr13:51944131 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Criteria Provided
Conflicting Classifications
CA388029823 rs_1206016866

5 SubmittersRCV000588068RCV001829614

NM_000053.4(ATP7B):c.1708-5T>G SNV
Germline
Chr13:51965038 Pathogenic/Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
CA6989243 rs_770829226

6 SubmittersRCV000589652

NM_000053.4(ATP7B):c.999G>T (p.Gly333=) SNV
Germline
Chr13:51974221 Conflicting classifications of pathogenicity Condition: not provided
Wilson disease
Criteria Provided
Conflicting Classifications
CA6989456 rs_371930715

2 SubmittersRCV000596907RCV004002461

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

8 SubmittersRCV000603728RCV000612067RCV001726257RCV002325149

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 SubmittersRCV000604203RCV000925140

NM_000053.4(ATP7B):c.1285+5G>T SNV
Germline
Chr13:51973930 Pathogenic/Likely pathogenic Inborn genetic diseases
Condition: not provided
Wilson disease
ATP7B-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA6989401 rs_370579582

17 SubmittersRCV000624233RCV000996144RCV001004593RCV003980208

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 SubmittersRCV000631252RCV001597189

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
Single Submitter
CA388020316 rs_1555282816

2 SubmittersRCV000669218

NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) SNV
Germline
Chr13:51937502 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6988552 rs_776300396

8 SubmittersRCV000669064RCV001531798

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 SubmittersRCV000670692RCV000779812

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 SubmittersRCV000665012RCV001310694

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 SubmittersRCV000673283RCV005240446

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

7 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 Condition: not provided
not specified
Inborn genetic diseases
Wilson disease
Criteria Provided
Conflicting Classifications
CA6988749 rs_778825095

8 SubmittersRCV000757021RCV000779813RCV002531207RCV000668718

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 SubmittersRCV000665474RCV001508708

NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) SNV
Germline
Chr13:51946366 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6988850 rs_200290721

12 SubmittersRCV000670460RCV001310697RCV002469248RCV004026114

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 SubmittersRCV000672631RCV003420191

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

5 SubmittersRCV000673490RCV001091640

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
Single Submitter
CA388025664 rs_1474837260

2 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

9 SubmittersRCV000665788RCV005054237

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

4 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

4 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

5 SubmittersRCV000674164RCV003480757

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

6 SubmittersRCV000667455RCV005243333

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

6 SubmittersRCV000670079RCV001509442

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

7 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

4 SubmittersRCV000672954RCV003222092

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 SubmittersRCV000667618RCV003324784

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

5 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 SubmittersRCV000671512RCV004702300

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 SubmittersRCV000673544RCV003319396

NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) SNV
Germline
Chr13:51946360 Conflicting classifications of pathogenicity Wilson disease
not specified
Criteria Provided
Conflicting Classifications
CA6988847 rs_777791532

3 SubmittersRCV000672990RCV003489792

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 SubmittersRCV000674734RCV004792368

NM_000053.4(ATP7B):c.2575+5G>C SNV
Germline
Chr13:51950267 Likely pathogenic Wilson disease Criteria Provided
Single Submitter
CA250058550 rs_551030054

2 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

8 SubmittersRCV000666959RCV002442394RCV005431856

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

13 SubmittersRCV000665805RCV003992365RCV003907929

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

4 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 SubmittersRCV000671983RCV002469250

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

5 SubmittersRCV000671716RCV002282316

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 SubmittersRCV000673196RCV003106017

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 Criteria Provided
Conflicting Classifications
CA6989531 rs_756718353

8 SubmittersRCV000670652

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

4 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 SubmittersRCV000672293RCV004689846

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

10 SubmittersRCV000664771RCV004792357

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 SubmittersRCV000665883RCV001508709

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

6 SubmittersRCV000665305RCV003480751

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

6 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

8 SubmittersRCV000671462RCV001509447

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 Criteria Provided
Multiple Submitters
No Conflicts
CA610425893 rs_1248002612

7 SubmittersRCV000667868

NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) SNV
Germline
Chr13:51960191 Pathogenic/Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
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

16 SubmittersRCV000667901RCV001531802

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 Criteria Provided
Conflicting Classifications
CA6989721 rs_750530407

4 SubmittersRCV000668127

NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) SNV
Germline
Chr13:51950361 Conflicting classifications of pathogenicity Wilson disease
not specified
Criteria Provided
Conflicting Classifications
CA388016681 rs_1566503575

2 SubmittersRCV000707143RCV004702364

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

6 SubmittersRCV000707116RCV004760749

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

11 SubmittersRCV000721966RCV002397500RCV003411660

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

2 SubmittersRCV000755835RCV002533779

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 SubmittersRCV000755839RCV001275298

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 SubmittersRCV000757023RCV001034284RCV002233752RCV002533126

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

10 SubmittersRCV000761257RCV002286787

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

7 SubmittersRCV000780931RCV000943904

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

8 SubmittersRCV000780939

NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) SNV
Germline
Chr13:51958369 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6989069 rs_121907997

9 SubmittersRCV000780926RCV002223938

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 SubmittersRCV000779811RCV002535662

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 SubmittersRCV000780928RCV001413641

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 SubmittersRCV000779810RCV001114540RCV003326513

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

5 SubmittersRCV000810166RCV001731938

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

5 SubmittersRCV000804208RCV003480839

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

7 SubmittersRCV000824312RCV003480876

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

4 SubmittersRCV000817111

NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) SNV
Germline
Chr13:51944213 Conflicting classifications of pathogenicity Wilson disease
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA388030195 rs_1441316018

5 SubmittersRCV000811070RCV003155318RCV003480854

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

6 SubmittersRCV000796453RCV004721608

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 SubmittersRCV000806274RCV002223947

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

7 SubmittersRCV000804503RCV001508351RCV003928277

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 SubmittersRCV000816422RCV004792524

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

4 SubmittersRCV000797318RCV001193093

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

4 SubmittersRCV000884984RCV002320064RCV004721671

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

5 SubmittersRCV000886986RCV001111074

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 SubmittersRCV000921851RCV001088741

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

4 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

5 SubmittersRCV000914130RCV001531801

NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) SNV
Germline
Chr13:51958380 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA6989072 rs_750477816

4 SubmittersRCV001110416

NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=) SNV
Germline
Chr13:51937491 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA6988549 rs_772616533

3 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

5 SubmittersRCV000936710

NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) SNV
Germline
Chr13:51958521 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6989098 rs_751202110

10 SubmittersRCV001001455RCV001172064RCV005418426

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

3 SubmittersRCV000936870RCV004726738

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

3 SubmittersRCV000943573

NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) SNV
Germline
Chr13:51974814 Conflicting classifications of pathogenicity Wilson disease
not specified
Criteria Provided
Conflicting Classifications
CA6989568 rs_557577836

6 SubmittersRCV000937216RCV002298802

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

4 SubmittersRCV000943066RCV001272284

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

8 SubmittersRCV000985060RCV004800649

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

2 SubmittersRCV000989142

NM_000053.4(ATP7B):c.2448-4G>T SNV
Germline
Chr13:51950403 Conflicting classifications of pathogenicity Condition: not provided
not specified
Wilson disease
Criteria Provided
Conflicting Classifications
CA915948655 rs_1593697433

3 SubmittersRCV000996140RCV001779100RCV002550688

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

3 SubmittersRCV000996141RCV002068723

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

4 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 SubmittersRCV001002164RCV002261249RCV005432525

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

3 SubmittersRCV001036116

NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr) SNV
Germline
Chr13:51946420 Pathogenic/Likely pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6988860 rs_778163447

4 SubmittersRCV001068702RCV002254330

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 SubmittersRCV001071453RCV001509441

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

3 SubmittersRCV001067105RCV005054323

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

10 SubmittersRCV001069979RCV001508349

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

4 SubmittersRCV001046279RCV004597952

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

6 SubmittersRCV001064049RCV003159560

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

9 SubmittersRCV001110986RCV001552816

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

4 SubmittersRCV001110331

NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=) SNV
Germline
Chr13:51944238 Conflicting classifications of pathogenicity Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6988804 rs_761888880

5 SubmittersRCV001110332RCV004032154

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

5 SubmittersRCV001111073RCV002436707

NM_000053.4(ATP7B):c.2763T>C (p.Ser921=) SNV
Germline
Chr13:51949764 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA250084891 rs_1052485948

4 SubmittersRCV001113062

NM_000053.4(ATP7B):c.609C>T (p.Asp203=) SNV
Germline
Chr13:51974611 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA6989529 rs_781140058

4 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 SubmittersRCV001111263RCV005278734

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 SubmittersRCV001111163RCV001593272RCV002402502

NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) SNV
Germline
Chr13:51974052 Conflicting classifications of pathogenicity not specified
Wilson disease
Inborn genetic diseases
ATP7B-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6989427 rs_770903362

8 SubmittersRCV001174860RCV001828588RCV002327425RCV004751900RCV004720077

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 SubmittersRCV001193695RCV001286029RCV004792780

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 Condition: not provided
Wilson disease
Criteria Provided
Conflicting Classifications
CA388030552 rs_1957518268

4 SubmittersRCV004590237RCV001220850

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

6 SubmittersRCV001214086RCV002241208RCV004731102

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 SubmittersRCV001205588RCV002275307

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

2 SubmittersRCV001205711

NM_000053.4(ATP7B):c.3060+5G>T SNV
Germline
Chr13:51946279 Pathogenic/Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
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

8 SubmittersRCV001232496RCV003317461

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

3 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

9 SubmittersRCV001242208RCV002261322

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
Inborn genetic diseases
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA250077094 rs_755817220

9 SubmittersRCV001254597RCV002451623RCV001751521RCV005236740

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

5 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.1687G>A (p.Asp563Asn) SNV
Germline
Chr13:51968464 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6989274 rs_199875471

5 SubmittersRCV001280012RCV002282508

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

4 SubmittersRCV001280014RCV002261330

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

5 SubmittersRCV001280021RCV001507827

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

3 SubmittersRCV001280567RCV003481050

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 Condition: not provided
Wilson disease
Criteria Provided
Conflicting Classifications
CA6989509 rs_777932681

3 SubmittersRCV004784093RCV003051042

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

3 SubmittersRCV001378212RCV003426062

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

4 SubmittersRCV001379176RCV001509443

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 SubmittersRCV001389302RCV001508711

NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys) SNV
Germline
Chr13:51944290 Conflicting classifications of pathogenicity Wilson disease
not specified
Criteria Provided
Conflicting Classifications
CA250080312 rs_949421614

4 SubmittersRCV001389303RCV004699364

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 SubmittersRCV001389304RCV003481106

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

3 SubmittersRCV001414342RCV003298688

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

3 SubmittersRCV001473203

NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) SNV
Germline
Chr13:51941221 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6988690 rs_199924281

7 SubmittersRCV001469712RCV001579789RCV001820163

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

2 SubmittersRCV001468675

NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=) SNV
Germline
Chr13:51968474 Conflicting classifications of pathogenicity Wilson disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6989280 rs_142187604

3 SubmittersRCV001461400RCV001581143

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

2 SubmittersRCV001496259

NM_000053.4(ATP7B):c.3465G>T (p.Arg1155Ser) SNV
Germline
Chr13:51941172 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA6988680 rs_201985951

2 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

4 SubmittersRCV001506991RCV003992531

NM_000053.4(ATP7B):c.4125-1G>T SNV
Germline
Chr13:51935030 Pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
CA388019875 rs_1293549383

2 SubmittersRCV001506990

NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr) SNV
Germline
Chr13:51937559 Likely pathogenic Wilson disease Criteria Provided
Single Submitter
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

4 SubmittersRCV001506997RCV005503161

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 SubmittersRCV001508712RCV003502595

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 SubmittersRCV001508350RCV001729928

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

6 SubmittersRCV001532934RCV003481119

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 SubmittersRCV001768925RCV003609187

NM_000053.4(ATP7B):c.3557-1G>C SNV
Germline
Chr13:51939194 Pathogenic/Likely pathogenic Condition: not provided
Wilson disease
Criteria Provided
Multiple Submitters
No Conflicts
CA388024861 rs_2138674428

2 SubmittersRCV001817789RCV002545181

NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter) SNV
Germline
Chr13:51950132 Pathogenic Wilson disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6988948 rs_191312027

3 SubmittersRCV002542703RCV001817790

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 not specified
Wilson disease
Criteria Provided
Conflicting Classifications
CA388031831 rs_2139048200

3 SubmittersRCV001844588RCV003502610

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 SubmittersRCV002034064RCV002454317

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 SubmittersRCV001881506RCV002261405

NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg) SNV
Germline
Chr13:51958366 Likely pathogenic Wilson disease Criteria Provided
Single Submitter
CA388021793 rs_776668666

1 SubmittersRCV001991571

NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu) SNV
Germline
Chr13:51950131 Conflicting classifications of pathogenicity Wilson disease
ATP7B-related disorder
Criteria Provided
Conflicting Classifications
CA6988947 rs_775553302

3 SubmittersRCV002032183RCV003923417

NM_000053.4(ATP7B):c.3061-1G>A SNV
Germline
Chr13:51944292 Pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
CA6988815 rs_780955130

5 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.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 SubmittersRCV002030308RCV005232755

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

3 SubmittersRCV001980135

NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter) SNV
Germline
Chr13:51949720 Pathogenic Wilson disease
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA6988905 rs_776002066

5 SubmittersRCV001997260RCV002441097

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

4 SubmittersRCV002019163

NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) SNV
Germline
Chr13:51958483 Conflicting classifications of pathogenicity Wilson disease
not specified
Criteria Provided
Conflicting Classifications
CA6989091 rs_760713333

4 SubmittersRCV001994832RCV002282667

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

2 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.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 SubmittersRCV001956421RCV002261432

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

5 SubmittersRCV002023924RCV002548851RCV002509746

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 Criteria Provided
Conflicting Classifications
CA6988778 rs_376112375

4 SubmittersRCV002077425

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 Criteria Provided
Multiple Submitters
No Conflicts
CA6988565 rs_121907990

2 SubmittersRCV002248978

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 SubmittersRCV002254510RCV003094178

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 SubmittersRCV002275992RCV005008508

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 Wilson disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA388027940 rs_2547611839

3 SubmittersRCV003102359RCV002451759

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

4 SubmittersRCV002424022RCV003464547

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

2 SubmittersRCV003062590RCV003481368

NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe) SNV
Germline
Chr13:51937385 Likely pathogenic Wilson disease Criteria Provided
Multiple Submitters
No Conflicts
CA6988535 rs_748644391

2 SubmittersRCV003062591

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.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 SubmittersRCV003041196RCV005433304

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

2 SubmittersRCV003062603RCV004765638

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.2720A>G (p.Gln907Arg) SNV
Germline
Chr13:51950017 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA388034115 rs_2547669800

3 SubmittersRCV003079170

NM_000053.4(ATP7B):c.2485G>C (p.Asp829His) SNV
Germline
Chr13:51950362 Likely pathogenic Wilson disease Criteria Provided
Single Submitter
CA250058572 rs_181388674

1 SubmittersRCV003061598

NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr) SNV
Germline
Chr13:51944132 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA388029831 rs_1196142320

3 SubmittersRCV003091933

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.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

3 SubmittersRCV003119308

NM_000053.4(ATP7B):c.235A>C (p.Arg79=) SNV
Germline
Chr13:51974985 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA484025051 rs_2547824726

2 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.2182A>G (p.Asn728Asp) SNV
Germline
Chr13:51958484 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications
CA388022952 rs_1459023925

2 SubmittersRCV002949543

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 SubmittersRCV002995715RCV004593117RCV005288866

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 SubmittersRCV003045696RCV005406563

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 SubmittersRCV003036059RCV003348983

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

4 SubmittersRCV003120127RCV005419593

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 SubmittersRCV003322655RCV004676190

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 SubmittersRCV003464954RCV005062968

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 Criteria Provided
Conflicting Classifications
CA388020811 rs_1957026103

2 SubmittersRCV003464963

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

2 SubmittersRCV003464927RCV004701071

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
Unknown
Chr13:51944152 Likely pathogenic Wilson disease Criteria Provided
Single Submitter
CA388029924 rs_2085422358

1 SubmittersRCV003464946

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
Single Submitter
CA388028177 rs_780361833

1 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

3 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 Conflicting classifications of pathogenicity Wilson disease
not specified
Criteria Provided
Conflicting Classifications
CA388024031 rs_2547724461

3 SubmittersRCV003504575RCV005407190

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 SubmittersRCV003503424RCV004703323

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

2 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
not specified
Wilson disease
Criteria Provided
Conflicting Classifications
CA388033295 rs_1169959260

3 SubmittersRCV003886907RCV005433491RCV004006180

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 SubmittersRCV003990607RCV004674011

NM_000053.4(ATP7B):c.3412G>C (p.Asp1138His) SNV
Unknown
Chr13:51942386 Likely pathogenic Wilson disease Criteria Provided
Single Submitter
CA388027653 rs_2547611249

1 SubmittersRCV003991515

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.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.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
Unknown
Chr13:51935668 Likely pathogenic Wilson disease Criteria Provided
Single Submitter
rs_764603742

1 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 SubmittersRCV004732198RCV005103647

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 SubmittersRCV004777523RCV005105021

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 SubmittersRCV004792257RCV004805143

NM_000053.4(ATP7B):c.4003G>C (p.Gly1335Arg) SNV
Germline
Chr13:51937294 Likely pathogenic Wilson disease Criteria Provided
Single Submitter

1 SubmittersRCV004797302

NM_000053.4(ATP7B):c.4120A>C (p.Lys1374Gln) SNV
Germline
Chr13:51935597 Conflicting classifications of pathogenicity Wilson disease Criteria Provided
Conflicting Classifications

2 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 Likely pathogenic Wilson disease Criteria Provided
Single Submitter

1 SubmittersRCV004807988

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 Likely pathogenic Wilson disease Criteria Provided
Single Submitter

1 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 Likely pathogenic Wilson disease Criteria Provided
Single Submitter

1 SubmittersRCV005006956

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.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 No Assertion Criteria Provided

1 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 Likely pathogenic Wilson disease No Assertion Criteria Provided

1 SubmittersRCV005610243

NM_000053.4(ATP7B):c.1285+1G>T SNV
Germline
Chr13:51973934 Likely pathogenic Wilson disease No Assertion Criteria Provided

1 SubmittersRCV005610256