| NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) |
single nucleotide variant |
Wilson disease [RCV000548917]|not provided [RCV003480668] |
Chr13:51942514 [GRCh38]
Chr13:52516650 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3042C>T (p.Pro1014=) |
single nucleotide variant |
Wilson disease [RCV000549684] |
Chr13:51946302 [GRCh38]
Chr13:52520438 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) |
single nucleotide variant |
Wilson disease [RCV000144365]|not provided [RCV000497757] |
Chr13:51958538 [GRCh38]
Chr13:52532674 [GRCh37]
Chr13:13q14.3 |
pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000053.3(ATP7B):c.2298_2299insC (p.Met769Hisfs) |
insertion |
Wilson disease [RCV000144366]|Wilson's disease [RCV000144366] |
Chr13:51958367 [GRCh38]
Chr13:52532503 [GRCh37]
Chr13:13q14.3 |
pathogenic|not provided |
| NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) |
single nucleotide variant |
Wilson disease [RCV000144367]|not provided [RCV001092072] |
Chr13:51958334 [GRCh38]
Chr13:52532470 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|not provided |
| NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002453462]|Wilson disease [RCV000144368]|not provided [RCV000724020] |
Chr13:51958330 [GRCh38]
Chr13:52532466 [GRCh37]
Chr13:13q14.3 |
pathogenic|not provided |
| NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter) |
single nucleotide variant |
Wilson disease [RCV000144369]|not provided [RCV003480060] |
Chr13:51958329 [GRCh38]
Chr13:52532465 [GRCh37]
Chr13:13q14.3 |
pathogenic|not provided |
| NM_000053.3(ATP7B):c.3400delC (p.Ala1135Glnfs) |
deletion |
Wilson's disease [RCV000144370] |
Chr13:51942398 [GRCh38]
Chr13:52516534 [GRCh37]
Chr13:13q14.3 |
not provided |
| NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002453275]|Wilson disease [RCV000023582]|not provided [RCV000727509] |
Chr13:51941194 [GRCh38]
Chr13:52515330 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000053.4(ATP7B):c.3526G>T (p.Gly1176Ter) |
single nucleotide variant |
Wilson disease [RCV000144371]|Wilson's disease [RCV000144371] |
Chr13:51941111 [GRCh38]
Chr13:52515247 [GRCh37]
Chr13:13q14.3 |
not provided |
| NM_000053.4(ATP7B):c.-123_-119dupCGCCG |
duplication |
ALG11-congenital disorder of glycosylation [RCV001517235]|Congenital disorder of glycosylation [RCV000332700]|Inborn genetic diseases [RCV004017267]|Wilson disease [RCV000029348]|not provided [RCV001356992]|not specified [RCV002222329] |
Chr13:52011455..52011456 [GRCh38]
Chr13:52585591..52585592 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.-74C>A |
single nucleotide variant |
Wilson disease [RCV000029349] |
Chr13:52011411 [GRCh38]
Chr13:52585547 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002354169]|Wilson disease [RCV000029350]|not provided [RCV001354129]|not specified [RCV000078038] |
Chr13:51974004 [GRCh38]
Chr13:52548140 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002381262]|Wilson disease [RCV000029351]|not provided [RCV001357860]|not specified [RCV000078039] |
Chr13:51970669 [GRCh38]
Chr13:52544805 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) |
single nucleotide variant |
ATP7B-related disorder [RCV003934854]|Inborn genetic diseases [RCV002390119]|Wilson disease [RCV000029352]|not provided [RCV000514302]|not specified [RCV000374856] |
Chr13:51968544 [GRCh38]
Chr13:52542680 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
| NM_000053.4(ATP7B):c.1707+9T>C |
single nucleotide variant |
Wilson disease [RCV000029353]|not provided [RCV001579397]|not specified [RCV000249095] |
Chr13:51968435 [GRCh38]
Chr13:52542571 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.2122-8T>G |
single nucleotide variant |
ATP7B-related disorder [RCV003398570]|Wilson disease [RCV000029354]|not provided [RCV001508345] |
Chr13:51958552 [GRCh38]
Chr13:52532688 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002444440]|Wilson disease [RCV000029355]|not provided [RCV000078041] |
Chr13:51958361 [GRCh38]
Chr13:52532497 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|benign |
| NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002426518]|Wilson disease [RCV000029356]|not provided [RCV001354224]|not specified [RCV000078043] |
Chr13:51950352 [GRCh38]
Chr13:52524488 [GRCh37]
Chr13:13q14.3 |
benign|uncertain significance |
| NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002433468]|Wilson disease [RCV000029357]|not provided [RCV001357476]|not specified [RCV000078044] |
Chr13:51949672 [GRCh38]
Chr13:52523808 [GRCh37]
Chr13:13q14.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000053.4(ATP7B):c.2866-13G>C |
single nucleotide variant |
Wilson disease [RCV000029358]|not provided [RCV004706448]|not specified [RCV000078045] |
Chr13:51946491 [GRCh38]
Chr13:52520627 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) |
single nucleotide variant |
ATP7B-related disorder [RCV003924861]|Inborn genetic diseases [RCV002433469]|Wilson disease [RCV000029359]|not provided [RCV000790662] |
Chr13:51946414 [GRCh38]
Chr13:52520550 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) |
single nucleotide variant |
ATP7B-related disorder [RCV003407364]|Inborn genetic diseases [RCV002433470]|Wilson disease [RCV000029360]|not provided [RCV000726685] |
Chr13:51946391 [GRCh38]
Chr13:52520527 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) |
single nucleotide variant |
ATP7B-related disorder [RCV003904863]|Inborn genetic diseases [RCV002513236]|Wilson disease [RCV000029361]|not provided [RCV000255583]|not specified [RCV000505878] |
Chr13:51946372 [GRCh38]
Chr13:52520508 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433471]|Wilson disease [RCV000029362]|not provided [RCV004707855]|not specified [RCV000078047] |
Chr13:51946371 [GRCh38]
Chr13:52520507 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433472]|Wilson disease [RCV000029363]|not provided [RCV004707856]|not specified [RCV000078048] |
Chr13:51946335 [GRCh38]
Chr13:52520471 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433473]|Wilson disease [RCV000631255]|not provided [RCV001537840]|not specified [RCV000252488] |
Chr13:51946329 [GRCh38]
Chr13:52520465 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444441]|Wilson disease [RCV000029365]|not specified [RCV000145268] |
Chr13:51946299 [GRCh38]
Chr13:51946299..51946300 [GRCh38]
Chr13:52520435 [GRCh37]
Chr13:52520435..52520436 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) |
single nucleotide variant |
Inborn genetic diseases [RCV004018677]|Wilson disease [RCV000029366] |
Chr13:51946290 [GRCh38]
Chr13:52520426 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3060+16G>T |
single nucleotide variant |
Wilson disease [RCV000029367]|not provided [RCV004704816]|not specified [RCV000174439] |
Chr13:51946268 [GRCh38]
Chr13:52520404 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002321488]|Wilson disease [RCV000029368]|not provided [RCV003390701]|not specified [RCV000244000] |
Chr13:51944251 [GRCh38]
Chr13:52518387 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002453268]|Wilson disease [RCV000029369]|not provided [RCV001354257]|not specified [RCV000078051] |
Chr13:51941218 [GRCh38]
Chr13:52515354 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) |
single nucleotide variant |
Inborn genetic diseases [RCV003362665]|Wilson disease [RCV000029370]|not provided [RCV003884335] |
Chr13:51941148 [GRCh38]
Chr13:52515284 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-6C>T |
single nucleotide variant |
Wilson disease [RCV000029371]|not provided [RCV000488125]|not specified [RCV000248416] |
Chr13:51939199 [GRCh38]
Chr13:52513335 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) |
single nucleotide variant |
Wilson disease [RCV000029372]|not provided [RCV001579583]|not specified [RCV000439420] |
Chr13:51939162 [GRCh38]
Chr13:52513298 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002453269]|Wilson disease [RCV000029373]|not provided [RCV000755468]|not specified [RCV000078052] |
Chr13:51939130 [GRCh38]
Chr13:52513266 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) |
single nucleotide variant |
Wilson disease [RCV000029374]|not provided [RCV000413521] |
Chr13:51939091 [GRCh38]
Chr13:52513227 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe) |
single nucleotide variant |
Wilson disease [RCV001785453]|not provided [RCV001753427]|not specified [RCV000587481] |
Chr13:51937679 [GRCh38]
Chr13:52511815 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.3903+6C>T |
single nucleotide variant |
Wilson disease [RCV000029376]|not provided [RCV000999513]|not specified [RCV000078054] |
Chr13:51937470 [GRCh38]
Chr13:52511606 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) |
single nucleotide variant |
ATP7B-related disorder [RCV004751225]|Inborn genetic diseases [RCV002371783]|Wilson disease [RCV000029377]|not provided [RCV000494120] |
Chr13:51937342 [GRCh38]
Chr13:52511478 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) |
single nucleotide variant |
Wilson disease [RCV000029378]|not provided [RCV000415977] |
Chr13:51935659 [GRCh38]
Chr13:52509795 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) |
single nucleotide variant |
Wilson disease [RCV000029379]|not provided [RCV000224611]|not specified [RCV000251030] |
Chr13:51934853 [GRCh38]
Chr13:52508989 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326687]|Wilson disease [RCV000029380]|not provided [RCV001579911]|not specified [RCV000242632] |
Chr13:51934852 [GRCh38]
Chr13:52508988 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326688]|Wilson disease [RCV000029381]|not provided [RCV000859342]|not specified [RCV000145285] |
Chr13:51934843 [GRCh38]
Chr13:52508979 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.*15C>T |
single nucleotide variant |
Wilson disease [RCV000029382]|not specified [RCV000417733] |
Chr13:51934741 [GRCh38]
Chr13:52508877 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.*16G>A |
single nucleotide variant |
Wilson disease [RCV000029383]|not provided [RCV000865113]|not specified [RCV001420713] |
Chr13:51934740 [GRCh38]
Chr13:52508876 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.845del (p.Leu282fs) |
deletion |
Wilson disease [RCV000029384] |
Chr13:51974375 [GRCh38]
Chr13:52548511 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) |
single nucleotide variant |
ATP7B-related disorder [RCV003407365]|Inborn genetic diseases [RCV000624795]|Wilson disease [RCV000029385]|not provided [RCV000588851]|not specified [RCV004767020] |
Chr13:51975122 [GRCh38]
Chr13:52549258 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| ATP7B, 7-BP DEL, NT2010 |
deletion |
Wilson disease [RCV000004047] |
Chr13:13q14.3-q21.1 |
pathogenic |
| ATP7B, 1-BP DEL, 2337C |
deletion |
Wilson disease [RCV000004050] |
Chr13:13q14.3-q21.1 |
pathogenic |
| ATP7B, 1-BP INS, NT2487 |
insertion |
Wilson disease [RCV000004051] |
Chr13:13q14.3-q21.1 |
pathogenic |
| NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002321470]|Wilson disease [RCV000004052]|not provided [RCV000078049] |
Chr13:51944145 [GRCh38]
Chr13:52518281 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) |
single nucleotide variant |
Wilson disease [RCV000004053]|not provided [RCV001507825] |
Chr13:51937583 [GRCh38]
Chr13:52511719 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1708-1G>C |
single nucleotide variant |
Wilson disease [RCV000004054]|not provided [RCV001579816] |
Chr13:51965034 [GRCh38]
Chr13:52539170 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) |
single nucleotide variant |
Wilson disease [RCV000004055]|not provided [RCV001091639] |
Chr13:51950116 [GRCh38]
Chr13:52524252 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) |
single nucleotide variant |
ATP7B-related disorder [RCV003398441]|Inborn genetic diseases [RCV002444420]|Wilson disease [RCV000004056]|not provided [RCV000389880] |
Chr13:51958333 [GRCh38]
Chr13:52532469 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| ATP7B, 15-BP DEL, NT-441 |
deletion |
Wilson disease [RCV000004057] |
Chr13:13q14.3-q21.1 |
pathogenic |
| NM_000053.4(ATP7B):c.3889GTC[1] (p.Val1298del) |
microsatellite |
Wilson disease [RCV000004058] |
Chr13:51937485..51937487 [GRCh38]
Chr13:52511621..52511623 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) |
single nucleotide variant |
Wilson disease [RCV000004059] |
Chr13:51958373 [GRCh38]
Chr13:52532509 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) |
single nucleotide variant |
Wilson disease [RCV000004060]|not provided [RCV001091638] |
Chr13:51949700 [GRCh38]
Chr13:52523836 [GRCh37]
Chr13:13q14.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004678595]|Wilson disease [RCV000004061]|not provided [RCV001818123] |
Chr13:51949772 [GRCh38]
Chr13:52523908 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| ATP7B, 1-BP DEL, 2511A |
deletion |
Wilson disease [RCV000004062] |
Chr13:13q14.3-q21.1 |
pathogenic |
| NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) |
single nucleotide variant |
ATP7B-related disorder [RCV003904803]|Inborn genetic diseases [RCV002354147]|Wilson disease [RCV000004063]|not provided [RCV000595271] |
Chr13:51937570 [GRCh38]
Chr13:52511706 [GRCh37]
Chr13:13q14.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) |
single nucleotide variant |
ATP7B-related disorder [RCV003904804]|Wilson disease [RCV000004064]|not provided [RCV000270891] |
Chr13:51946438 [GRCh38]
Chr13:52520574 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) |
single nucleotide variant |
Wilson disease [RCV000004065] |
Chr13:51958369 [GRCh38]
Chr13:52532505 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) |
single nucleotide variant |
ATP7B-related disorder [RCV003398442]|Inborn genetic diseases [RCV002408449]|Wilson disease [RCV000004066]|not provided [RCV001508347] |
Chr13:51961849 [GRCh38]
Chr13:52535985 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) |
single nucleotide variant |
Wilson disease [RCV000004068]|not provided [RCV000421016] |
Chr13:51974355 [GRCh38]
Chr13:52548491 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) |
single nucleotide variant |
Wilson disease [RCV000004069]|not provided [RCV000597397]|not specified [RCV000507833] |
Chr13:51958543 [GRCh38]
Chr13:52532679 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) |
single nucleotide variant |
Wilson disease [RCV000004070] |
Chr13:51960198 [GRCh38]
Chr13:52534334 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000053.4(ATP7B):c.4090G>C (p.Val1364Leu) |
single nucleotide variant |
not provided [RCV000723247] |
Chr13:51935627 [GRCh38]
Chr13:52509763 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2412C>T (p.Thr804=) |
single nucleotide variant |
Wilson disease [RCV001494878] |
Chr13:51957551 [GRCh38]
Chr13:52531687 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3982G>A (p.Ala1328Thr) |
single nucleotide variant |
Wilson disease [RCV001830111]|not specified [RCV001290566] |
Chr13:51937315 [GRCh38]
Chr13:52511451 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3571A>G (p.Met1191Val) |
single nucleotide variant |
not provided [RCV000722489] |
Chr13:51939179 [GRCh38]
Chr13:52513315 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3280_3281insGTAT (p.Phe1094fs) |
insertion |
not provided [RCV000722992] |
Chr13:51942517..51942518 [GRCh38]
Chr13:52516653..52516654 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2304dup (p.Met769fs) |
duplication |
ATP7B-related disorder [RCV003905331]|Inborn genetic diseases [RCV000623842]|Wilson disease [RCV000543563]|not provided [RCV001200388] |
Chr13:51958361..51958362 [GRCh38]
Chr13:52532497..52532498 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.3(ATP7B):c.51+16144G>C |
single nucleotide variant |
Lung cancer [RCV000097950] |
Chr13:51995143 [GRCh38]
Chr13:52569279 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 |
copy number gain |
See cases [RCV000050293] |
Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3 |
pathogenic |
| GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 |
copy number loss |
See cases [RCV000050891] |
Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3 |
pathogenic |
| GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 |
copy number loss |
See cases [RCV000051373] |
Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33 |
pathogenic |
| GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3 |
copy number gain |
See cases [RCV000052006] |
Chr13:51717666..52258617 [GRCh38]
Chr13:52291802..52832752 [GRCh37]
Chr13:51189803..51730753 [NCBI36]
Chr13:13q14.3 |
uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000053731] |
Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 |
copy number gain |
See cases [RCV000053737] |
Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 |
copy number gain |
See cases [RCV000053719] |
Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 |
copy number gain |
See cases [RCV000053723] |
Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 |
copy number gain |
See cases [RCV000053726] |
Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 |
copy number gain |
See cases [RCV000053762] |
Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34 |
pathogenic |
| GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 |
copy number gain |
See cases [RCV000053764] |
Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34 |
pathogenic |
| GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 |
copy number gain |
See cases [RCV000053767] |
Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34 |
pathogenic |
| GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 |
copy number gain |
See cases [RCV000053759] |
Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34 |
pathogenic |
| NM_000053.3(ATP7B):c.1882C>T (p.His628Tyr) |
single nucleotide variant |
Malignant melanoma [RCV000062684] |
Chr13:51961901 [GRCh38]
Chr13:52536037 [GRCh37]
Chr13:51434038 [NCBI36]
Chr13:13q14.3 |
not provided |
| NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) |
single nucleotide variant |
Wilson disease [RCV000670794]|not provided [RCV000487499]|not specified [RCV004017388] |
Chr13:51968530 [GRCh38]
Chr13:52542666 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) |
single nucleotide variant |
Inborn genetic diseases [RCV003162506]|Wilson disease [RCV000631249]|not provided [RCV001310698]|not specified [RCV000078042] |
Chr13:51958356 [GRCh38]
Chr13:52532492 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453394]|Wilson disease [RCV000302449]|not provided [RCV000588949]|not specified [RCV000078050] |
Chr13:51942429 [GRCh38]
Chr13:52516565 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002354273]|Wilson disease [RCV000490530]|not provided [RCV003333954]|not specified [RCV000078053] |
Chr13:51937490 [GRCh38]
Chr13:52511626 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) |
single nucleotide variant |
ATP7B-related disorder [RCV003935015]|Wilson disease [RCV001001253]|not provided [RCV000436240] |
Chr13:51974592 [GRCh38]
Chr13:52548728 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) |
single nucleotide variant |
Wilson disease [RCV001201260]|not provided [RCV000175511] |
Chr13:51974305 [GRCh38]
Chr13:52548441 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2672G>C (p.Gly891Ala) |
single nucleotide variant |
not provided [RCV000087161] |
Chr13:51950065 [GRCh38]
Chr13:52524201 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2009_2012dup (p.Met671fs) |
microsatellite |
Wilson disease [RCV001004592] |
Chr13:51960256..51960257 [GRCh38]
Chr13:52534392..52534393 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.222G>C (p.Lys74Asn) |
single nucleotide variant |
not provided [RCV000144490] |
Chr13:51974998 [GRCh38]
Chr13:52549134 [GRCh37]
Chr13:13q14.3 |
not provided |
| NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) |
single nucleotide variant |
Abnormality of metabolism/homeostasis [RCV001814079]|Wilson disease [RCV000169109]|not provided [RCV001508716] |
Chr13:51946336 [GRCh38]
Chr13:52520472 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) |
single nucleotide variant |
ATP7B-related disorder [RCV003955024]|Wilson disease [RCV001081569]|not provided [RCV000587605]|not specified [RCV000174213] |
Chr13:51949742 [GRCh38]
Chr13:52523878 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys) |
single nucleotide variant |
Wilson disease [RCV001302459]|not specified [RCV003120544] |
Chr13:51958528 [GRCh38]
Chr13:52532664 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) |
single nucleotide variant |
Wilson disease [RCV000148375]|not provided [RCV001091634] |
Chr13:51937493 [GRCh38]
Chr13:52511629 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs) |
deletion |
Wilson disease [RCV001293508] |
Chr13:51941155..51941165 [GRCh38]
Chr13:52515291..52515301 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.383del (p.Gly128fs) |
deletion |
Wilson disease [RCV000190567] |
Chr13:51974837 [GRCh38]
Chr13:52548973 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2355G>A (p.Lys785=) |
single nucleotide variant |
not provided [RCV001290758] |
Chr13:51958311 [GRCh38]
Chr13:52532447 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.51+31G>A |
single nucleotide variant |
Wilson disease [RCV001286968] |
Chr13:52011256 [GRCh38]
Chr13:52585392 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.3(ATP7B):c.-119delG |
deletion |
not specified [RCV000145250] |
Chr13:52011456 [GRCh38]
Chr13:52585592 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1336G>C (p.Val446Leu) |
single nucleotide variant |
not specified [RCV000145252] |
Chr13:51970699 [GRCh38]
Chr13:52544835 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) |
single nucleotide variant |
ATP7B-related disorder [RCV004751289]|Inborn genetic diseases [RCV003162602]|Wilson disease [RCV000145253]|not provided [RCV000415842] |
Chr13:51961906 [GRCh38]
Chr13:52536042 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000053.4(ATP7B):c.1878C>T (p.Gly626=) |
single nucleotide variant |
Wilson disease [RCV001495396]|not specified [RCV000145254] |
Chr13:51961905 [GRCh38]
Chr13:52536041 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) |
single nucleotide variant |
Wilson disease [RCV000145255]|not provided [RCV000590476] |
Chr13:51960300 [GRCh38]
Chr13:52534436 [GRCh37]
Chr13:13q14.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) |
single nucleotide variant |
Wilson disease [RCV000145257]|not provided [RCV000427356]|not specified [RCV002265624] |
Chr13:51960267 [GRCh38]
Chr13:52534403 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2166G>A (p.Leu722=) |
single nucleotide variant |
Wilson disease [RCV003998162]|not specified [RCV000145258] |
Chr13:51958500 [GRCh38]
Chr13:52532636 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) |
single nucleotide variant |
ATP7B-related disorder [RCV003895023]|Wilson disease [RCV000855544]|not provided [RCV002225450]|not specified [RCV000145260] |
Chr13:51958374 [GRCh38]
Chr13:52532510 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2355+13T>G |
single nucleotide variant |
Wilson disease [RCV000607602]|not provided [RCV000586589]|not specified [RCV000145262] |
Chr13:51958298 [GRCh38]
Chr13:52532434 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2623G>A (p.Gly875Arg) |
single nucleotide variant |
not specified [RCV000145264] |
Chr13:51950114 [GRCh38]
Chr13:52524250 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2673C>G (p.Gly891=) |
single nucleotide variant |
not specified [RCV000145265] |
Chr13:51950064 [GRCh38]
Chr13:52524200 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2865+1G>A |
single nucleotide variant |
Wilson disease [RCV000145266]|not provided [RCV004700462] |
Chr13:51949661 [GRCh38]
Chr13:52523797 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) |
single nucleotide variant |
Wilson disease [RCV000145267] |
Chr13:51946333 [GRCh38]
Chr13:52520469 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3169C>T (p.Leu1057=) |
single nucleotide variant |
Wilson disease [RCV002055872]|not specified [RCV000145269] |
Chr13:51944183 [GRCh38]
Chr13:52518319 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) |
single nucleotide variant |
Wilson disease [RCV000675167]|not provided [RCV001508710]|not specified [RCV000145270] |
Chr13:51944164 [GRCh38]
Chr13:52518300 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_000053.4(ATP7B):c.3210C>T (p.Pro1070=) |
single nucleotide variant |
Wilson disease [RCV002514799]|not specified [RCV000145271] |
Chr13:51944142 [GRCh38]
Chr13:52518278 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) |
single nucleotide variant |
Inborn genetic diseases [RCV002321620]|Wilson disease [RCV000145272]|not provided [RCV001707533] |
Chr13:51942474 [GRCh38]
Chr13:52516610 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3381G>A (p.Leu1127=) |
single nucleotide variant |
Wilson disease [RCV004806084]|not specified [RCV000145273] |
Chr13:51942417 [GRCh38]
Chr13:52516553 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.3399T>C (p.Leu1133=) |
single nucleotide variant |
not specified [RCV000145274] |
Chr13:51942399 [GRCh38]
Chr13:52516535 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3428C>A (p.Thr1143Asn) |
single nucleotide variant |
not specified [RCV000145275] |
Chr13:51941209 [GRCh38]
Chr13:52515345 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) |
single nucleotide variant |
ATP7B-related disorder [RCV003895024]|Inborn genetic diseases [RCV002453467]|Wilson disease [RCV000350613]|not specified [RCV000145276] |
Chr13:51941139 [GRCh38]
Chr13:52515275 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) |
single nucleotide variant |
Wilson disease [RCV000667056]|not provided [RCV001576695]|not specified [RCV000145277] |
Chr13:51941089 [GRCh38]
Chr13:52515225 [GRCh37]
Chr13:13q14.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3733C>T (p.Pro1245Ser) |
single nucleotide variant |
not specified [RCV000145278] |
Chr13:51937646 [GRCh38]
Chr13:52511782 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) |
single nucleotide variant |
Wilson disease [RCV000145280] |
Chr13:51937276 [GRCh38]
Chr13:52511412 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) |
single nucleotide variant |
ATP7B-related disorder [RCV003895025]|Wilson disease [RCV000145281] |
Chr13:51935678 [GRCh38]
Chr13:52509814 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.41C>A (p.Ala14Asp) |
single nucleotide variant |
not specified [RCV000145283] |
Chr13:52011297 [GRCh38]
Chr13:52585433 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.4221T>A (p.Asp1407Glu) |
single nucleotide variant |
not specified [RCV000145284] |
Chr13:51934933 [GRCh38]
Chr13:52509069 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.870G>C (p.Val290=) |
single nucleotide variant |
not specified [RCV000145286] |
Chr13:51974350 [GRCh38]
Chr13:52548486 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.9G>A (p.Glu3=) |
single nucleotide variant |
Wilson disease [RCV001503082]|not specified [RCV000145287] |
Chr13:52011329 [GRCh38]
Chr13:52585465 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 |
copy number loss |
See cases [RCV000133696] |
Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31 |
pathogenic |
| NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) |
single nucleotide variant |
ATP7B-related disorder [RCV004751288]|Inborn genetic diseases [RCV002514798]|Wilson disease [RCV000145251]|not provided [RCV000416017] |
Chr13:51975098 [GRCh38]
Chr13:52549234 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV000415012]|Inborn genetic diseases [RCV002415630]|Wilson disease [RCV000145256]|not provided [RCV000498564]|not specified [RCV000855573] |
Chr13:51960274 [GRCh38]
Chr13:52534410 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426698]|Wilson disease [RCV001084480]|not provided [RCV000588095]|not specified [RCV000145259] |
Chr13:51958491 [GRCh38]
Chr13:52532627 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) |
single nucleotide variant |
ATP7B-related disorder [RCV003415974]|Inborn genetic diseases [RCV000623574]|Wilson disease [RCV000145263]|not provided [RCV000413599] |
Chr13:51950132 [GRCh38]
Chr13:52524268 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) |
single nucleotide variant |
ATP7B-related disorder [RCV003891674]|Wilson disease [RCV000384354]|not provided [RCV000589297]|not specified [RCV000145279] |
Chr13:51937488 [GRCh38]
Chr13:52511624 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) |
single nucleotide variant |
ATP7B-related disorder [RCV004751290]|Inborn genetic diseases [RCV002326851]|See cases [RCV002252001]|Wilson disease [RCV000763902]|not provided [RCV000587055]|not specified [RCV000309770] |
Chr13:51935019 [GRCh38]
Chr13:52509155 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 |
copy number gain |
See cases [RCV000133944] |
Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 |
copy number gain |
See cases [RCV000134104] |
Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 |
copy number gain |
See cases [RCV000135808] |
Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 |
copy number loss |
See cases [RCV000135610] |
Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 |
copy number loss |
See cases [RCV000136526] |
Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1 |
pathogenic |
| GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 |
copy number loss |
See cases [RCV000136647] |
Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1 |
pathogenic |
| GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 |
copy number loss |
See cases [RCV000137893] |
Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34 |
pathogenic |
| GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 |
copy number gain |
See cases [RCV000138339] |
Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 |
copy number gain |
See cases [RCV000139078] |
Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 |
copy number gain |
See cases [RCV000140004] |
Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 |
copy number loss |
See cases [RCV000140744] |
Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32 |
pathogenic |
| GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 |
copy number loss |
See cases [RCV000142223] |
Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 |
copy number gain |
See cases [RCV000142924] |
Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 |
copy number gain |
See cases [RCV000143462] |
Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 |
copy number gain |
See cases [RCV000148244] |
Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000148126] |
Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) |
single nucleotide variant |
ATP7B-related disorder [RCV004751314]|Wilson disease [RCV000169002]|not provided [RCV001509440] |
Chr13:51949723 [GRCh38]
Chr13:52523859 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) |
single nucleotide variant |
ATP7B-related disorder [RCV003390880]|Wilson disease [RCV000169019]|not provided [RCV001558241] |
Chr13:51946291 [GRCh38]
Chr13:52520427 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2731-2A>G |
single nucleotide variant |
ATP7B-related disorder [RCV003927563]|Inborn genetic diseases [RCV002433725]|Wilson disease [RCV000169025]|not provided [RCV000485754] |
Chr13:51949798 [GRCh38]
Chr13:52523934 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) |
deletion |
Inborn genetic diseases [RCV004965273]|Wilson disease [RCV000169026]|not provided [RCV000523051] |
Chr13:51942396 [GRCh38]
Chr13:52516532 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2513del (p.Lys838fs) |
deletion |
Wilson disease [RCV000169035] |
Chr13:51950334 [GRCh38]
Chr13:52524470 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2575+1G>C |
single nucleotide variant |
Wilson disease [RCV000169063]|not provided [RCV001582664] |
Chr13:51950271 [GRCh38]
Chr13:52524407 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444776]|Wilson disease [RCV000948469]|not provided [RCV001566425]|not specified [RCV000192460] |
Chr13:51944283 [GRCh38]
Chr13:52518419 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV000415237]|Wilson disease [RCV000169133]|not provided [RCV003311702] |
Chr13:51946337 [GRCh38]
Chr13:52520473 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) |
single nucleotide variant |
Wilson disease [RCV000169142] |
Chr13:51942497 [GRCh38]
Chr13:52516633 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) |
single nucleotide variant |
Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004813069]|Wilson disease [RCV000169151] |
Chr13:51957580 [GRCh38]
Chr13:52531716 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002433726]|Wilson disease [RCV000169179]|not provided [RCV000362786] |
Chr13:51946369 [GRCh38]
Chr13:52520505 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) |
single nucleotide variant |
ATP7B-related disorder [RCV003422061]|Wilson disease [RCV000169188]|not provided [RCV001596981] |
Chr13:51941186 [GRCh38]
Chr13:52515322 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) |
single nucleotide variant |
Wilson disease [RCV000169211]|not provided [RCV000725176] |
Chr13:51939104 [GRCh38]
Chr13:52513240 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) |
deletion |
Wilson disease [RCV000169214]|not provided [RCV002274945] |
Chr13:51960254..51960260 [GRCh38]
Chr13:52534390..52534396 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) |
single nucleotide variant |
Wilson disease [RCV000169233]|not provided [RCV000333003] |
Chr13:51950328 [GRCh38]
Chr13:52524464 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2532del (p.Val845fs) |
deletion |
Wilson disease [RCV000169237]|not provided [RCV000723473] |
Chr13:51950315 [GRCh38]
Chr13:52524451 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) |
single nucleotide variant |
ATP7B-related disorder [RCV003907530]|Wilson disease [RCV000169240]|not provided [RCV001557295] |
Chr13:51942535 [GRCh38]
Chr13:52516671 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) |
single nucleotide variant |
Wilson disease [RCV000169259] |
Chr13:51974889 [GRCh38]
Chr13:52549025 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002453567]|Wilson disease [RCV000169260]|not provided [RCV002254281] |
Chr13:51941081 [GRCh38]
Chr13:52515217 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) |
single nucleotide variant |
Wilson disease [RCV000169268]|not provided [RCV003480071] |
Chr13:51935629 [GRCh38]
Chr13:52509765 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) |
single nucleotide variant |
ATP7B-related disorder [RCV004751316]|Intellectual disability, Wolff type [RCV001823123]|Wilson disease [RCV000169298]|not provided [RCV000724151] |
Chr13:51974407 [GRCh38]
Chr13:52548543 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.778dup (p.Gln260fs) |
duplication |
Wilson disease [RCV000169312]|not provided [RCV001560289] |
Chr13:51974441..51974442 [GRCh38]
Chr13:52548577..52548578 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) |
single nucleotide variant |
Wilson disease [RCV000169321]|not provided [RCV000726684] |
Chr13:51935666 [GRCh38]
Chr13:52509802 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3244-2A>G |
single nucleotide variant |
ATP7B-related disorder [RCV004730892]|Wilson disease [RCV000169327]|not provided [RCV003480072] |
Chr13:51942556 [GRCh38]
Chr13:52516692 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) |
deletion |
ATP7B-related disorder [RCV003398867]|Wilson disease [RCV000169375]|not provided [RCV001291604] |
Chr13:51974695..51974696 [GRCh38]
Chr13:52548831..52548832 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) |
deletion |
Wilson disease [RCV000169402]|not provided [RCV001091635] |
Chr13:51939096..51939101 [GRCh38]
Chr13:52513232..52513237 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) |
single nucleotide variant |
Wilson disease [RCV000169428] |
Chr13:51974966 [GRCh38]
Chr13:52549102 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) |
single nucleotide variant |
Wilson disease [RCV000169445] |
Chr13:51941120 [GRCh38]
Chr13:52515256 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3556+1G>A |
single nucleotide variant |
Wilson disease [RCV000169452]|not provided [RCV003159558] |
Chr13:51941080 [GRCh38]
Chr13:52515216 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) |
single nucleotide variant |
Wilson disease [RCV000169453] |
Chr13:51939152 [GRCh38]
Chr13:52513288 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) |
single nucleotide variant |
Wilson disease [RCV000169455]|not provided [RCV001531800] |
Chr13:51949699 [GRCh38]
Chr13:52523835 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) |
deletion |
Wilson disease [RCV000169497] |
Chr13:51964959 [GRCh38]
Chr13:52539095 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) |
duplication |
Wilson disease [RCV000169520] |
Chr13:51941084..51941085 [GRCh38]
Chr13:52515220..52515221 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) |
single nucleotide variant |
Wilson disease [RCV000169521]|not provided [RCV001508348] |
Chr13:51961859 [GRCh38]
Chr13:52535995 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) |
deletion |
Inborn genetic diseases [RCV002399599]|Spastic ataxia [RCV001640260]|Wilson disease [RCV000169524]|not provided [RCV000726071] |
Chr13:51964995..51964996 [GRCh38]
Chr13:52539131..52539132 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1285+2T>A |
single nucleotide variant |
Wilson disease [RCV000169532]|not provided [RCV003480073] |
Chr13:51973933 [GRCh38]
Chr13:52548069 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) |
single nucleotide variant |
Wilson disease [RCV000169535]|not provided [RCV000514615] |
Chr13:51950069 [GRCh38]
Chr13:52524205 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) |
single nucleotide variant |
Wilson disease [RCV000169558]|not provided [RCV001310695] |
Chr13:51937561 [GRCh38]
Chr13:52511697 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) |
single nucleotide variant |
ATP7B-related disorder [RCV004751319]|Wilson disease [RCV000169572] |
Chr13:51937484 [GRCh38]
Chr13:52511620 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2035del (p.His679fs) |
deletion |
Wilson disease [RCV000169628] |
Chr13:51960234 [GRCh38]
Chr13:52534370 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) |
single nucleotide variant |
Wilson disease [RCV000169629]|not provided [RCV000293037] |
Chr13:51974906 [GRCh38]
Chr13:52549042 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) |
single nucleotide variant |
Wilson disease [RCV000193725]|not provided [RCV004791316] |
Chr13:51941132 [GRCh38]
Chr13:52515268 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) |
single nucleotide variant |
Wilson disease [RCV000707370]|not provided [RCV000178707] |
Chr13:51964901 [GRCh38]
Chr13:52539037 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) |
single nucleotide variant |
Wilson disease [RCV002503752]|not specified [RCV000194327] |
Chr13:51974091 [GRCh38]
Chr13:52548227 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) |
duplication |
Wilson disease [RCV000194439] |
Chr13:51958500..51958501 [GRCh38]
Chr13:52532636..52532637 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1707+9TG[3] |
microsatellite |
not specified [RCV000192392] |
Chr13:51968431..51968432 [GRCh38]
Chr13:52542567..52542568 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) |
single nucleotide variant |
Wilson disease [RCV000193403]|not provided [RCV002254284] |
Chr13:51964969 [GRCh38]
Chr13:52539105 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 |
copy number gain |
See cases [RCV000240150] |
Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.2708T>G (p.Val903Gly) |
single nucleotide variant |
not provided [RCV000755837] |
Chr13:51950029 [GRCh38]
Chr13:52524165 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4124+4A>G |
single nucleotide variant |
Wilson disease [RCV004007230]|not provided [RCV001507821] |
Chr13:51935589 [GRCh38]
Chr13:52509725 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val) |
single nucleotide variant |
Wilson disease [RCV000669198] |
Chr13:51958340 [GRCh38]
Chr13:52532476 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1544-2A>C |
single nucleotide variant |
Wilson disease [RCV000669421] |
Chr13:51968609 [GRCh38]
Chr13:52542745 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.111dup (p.Ala38fs) |
duplication |
Wilson disease [RCV000670588] |
Chr13:51975108..51975109 [GRCh38]
Chr13:52549244..52549245 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) |
duplication |
Wilson disease [RCV000668906] |
Chr13:51935003..51935004 [GRCh38]
Chr13:52509139..52509140 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp) |
single nucleotide variant |
Wilson disease [RCV001275298]|not provided [RCV000755839] |
Chr13:51974724 [GRCh38]
Chr13:52548860 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) |
deletion |
Wilson disease [RCV001175559]|not provided [RCV000755841] |
Chr13:51937304..51937307 [GRCh38]
Chr13:52511440..52511443 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.*23G>T |
single nucleotide variant |
Wilson disease [RCV000757020] |
Chr13:51934733 [GRCh38]
Chr13:52508869 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002533126]|Wilson disease [RCV001034284]|not provided [RCV000757023]|not specified [RCV002233752] |
Chr13:51974994 [GRCh38]
Chr13:52549130 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) |
single nucleotide variant |
Wilson disease [RCV000525049]|not provided [RCV001509446] |
Chr13:51958492 [GRCh38]
Chr13:52532628 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002532081]|Wilson disease [RCV000669052]|not provided [RCV000755834]|not specified [RCV002298728] |
Chr13:51944246 [GRCh38]
Chr13:52518382 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) |
single nucleotide variant |
Wilson disease [RCV000668789] |
Chr13:51937561 [GRCh38]
Chr13:52511697 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val) |
single nucleotide variant |
Wilson disease [RCV000668889] |
Chr13:51946399 [GRCh38]
Chr13:52520535 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4022-2A>C |
single nucleotide variant |
Wilson disease [RCV000669218] |
Chr13:51935697 [GRCh38]
Chr13:52509833 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.3(ATP7B):c.-122_-118dup |
duplication |
Wilson disease [RCV000669614] |
Chr13:52011454..52011455 [GRCh38]
Chr13:52585590..52585591 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.3(ATP7B):c.-441_-427del15 |
deletion |
Wilson disease [RCV000239371] |
Chr13:52011762..52011776 [GRCh38]
Chr13:52585898..52585912 [GRCh37]
Chr13:13q14.3 |
pathogenic|not provided |
| NM_000053.4(ATP7B):c.3557-3C>T |
single nucleotide variant |
not provided [RCV000999516] |
Chr13:51939196 [GRCh38]
Chr13:52513332 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) |
single nucleotide variant |
Wilson disease [RCV001114348]|not provided [RCV000999520] |
Chr13:51942430 [GRCh38]
Chr13:52516566 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) |
single nucleotide variant |
Wilson disease [RCV000668824] |
Chr13:51974226 [GRCh38]
Chr13:52548362 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro) |
single nucleotide variant |
Wilson disease [RCV000669571] |
Chr13:51958514 [GRCh38]
Chr13:52532650 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4021+50G>C |
single nucleotide variant |
Wilson disease [RCV001533467]|not provided [RCV000835504]|not specified [RCV000246105] |
Chr13:51937226 [GRCh38]
Chr13:52511362 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) |
single nucleotide variant |
Inborn genetic diseases [RCV002450762]|Wilson disease [RCV000527158]|not provided [RCV001579943]|not specified [RCV000248534] |
Chr13:51942432 [GRCh38]
Chr13:52516568 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.2448-25G>A |
single nucleotide variant |
Wilson disease [RCV001000023]|not provided [RCV000835501]|not specified [RCV000253301] |
Chr13:51950424 [GRCh38]
Chr13:52524560 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) |
single nucleotide variant |
Wilson disease [RCV001494469]|not specified [RCV000253586] |
Chr13:51958398 [GRCh38]
Chr13:52532534 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2146G>A (p.Val716Ile) |
single nucleotide variant |
not specified [RCV000244057] |
Chr13:51958520 [GRCh38]
Chr13:52532656 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) |
single nucleotide variant |
Inborn genetic diseases [RCV002401951]|Wilson disease [RCV001086715]|not provided [RCV000590083]|not specified [RCV000244316] |
Chr13:51968531 [GRCh38]
Chr13:52542667 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) |
single nucleotide variant |
Inborn genetic diseases [RCV002450763]|Wilson disease [RCV001001299]|not provided [RCV003391012]|not specified [RCV000251888] |
Chr13:51942396 [GRCh38]
Chr13:52516532 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1912G>A (p.Ala638Thr) |
single nucleotide variant |
not specified [RCV000252230] |
Chr13:51961871 [GRCh38]
Chr13:52536007 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) |
single nucleotide variant |
Inborn genetic diseases [RCV004965354]|Wilson disease [RCV000907046]|not provided [RCV001699268]|not specified [RCV000245085] |
Chr13:51950363 [GRCh38]
Chr13:52524499 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1543+14G>A |
single nucleotide variant |
Wilson disease [RCV000286518]|not specified [RCV000252542] |
Chr13:51970478 [GRCh38]
Chr13:52544614 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) |
single nucleotide variant |
Wilson disease [RCV001111075]|not provided [RCV000727508]|not specified [RCV000242957] |
Chr13:51946368 [GRCh38]
Chr13:52520504 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3557-7G>A |
single nucleotide variant |
Wilson disease [RCV001394627]|not specified [RCV000253000] |
Chr13:51939200 [GRCh38]
Chr13:52513336 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.*1009G>A |
single nucleotide variant |
Wilson disease [RCV000283967]|not provided [RCV004703657] |
Chr13:51933747 [GRCh38]
Chr13:52507883 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) |
single nucleotide variant |
Wilson disease [RCV000372640]|not provided [RCV003151766]|not specified [RCV000780935] |
Chr13:51941215 [GRCh38]
Chr13:52515351 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.*963C>T |
single nucleotide variant |
Wilson disease [RCV000287848] |
Chr13:51933793 [GRCh38]
Chr13:52507929 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1717G>T |
single nucleotide variant |
Wilson disease [RCV000287347] |
Chr13:51933039 [GRCh38]
Chr13:52507175 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.1278C>T (p.Val426=) |
single nucleotide variant |
Inborn genetic diseases [RCV002446564]|Wilson disease [RCV000306439]|not provided [RCV000873189]|not specified [RCV000610248] |
Chr13:51973942 [GRCh38]
Chr13:52548078 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) |
single nucleotide variant |
Wilson disease [RCV000270155]|not specified [RCV002469126] |
Chr13:51934969 [GRCh38]
Chr13:52509105 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) |
single nucleotide variant |
ATP7B-related disorder [RCV003930333]|Wilson disease [RCV000271169]|not provided [RCV001711923] |
Chr13:51937494 [GRCh38]
Chr13:52511630 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) |
single nucleotide variant |
ATP7B-related disorder [RCV004751452]|Wilson disease [RCV000308454]|not provided [RCV003223635] |
Chr13:51944231 [GRCh38]
Chr13:52518367 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) |
single nucleotide variant |
ATP7B-related disorder [RCV003422258]|Wilson disease [RCV000261389]|not provided [RCV000859330] |
Chr13:51950303 [GRCh38]
Chr13:52524439 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.*1782C>G |
single nucleotide variant |
Wilson disease [RCV000336343]|not provided [RCV004708339] |
Chr13:51932974 [GRCh38]
Chr13:52507110 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002520888]|Wilson disease [RCV000259729]|not provided [RCV000755836]|not specified [RCV000779819] |
Chr13:51974550 [GRCh38]
Chr13:52548686 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1122C>G (p.Val374=) |
single nucleotide variant |
ATP7B-related disorder [RCV003930334]|Inborn genetic diseases [RCV004678673]|Wilson disease [RCV000277263]|not provided [RCV004719091] |
Chr13:51974098 [GRCh38]
Chr13:52548234 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.*190C>A |
single nucleotide variant |
Wilson disease [RCV000298670]|not provided [RCV001618547] |
Chr13:51934566 [GRCh38]
Chr13:52508702 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.*1182C>T |
single nucleotide variant |
Wilson disease [RCV000262520] |
Chr13:51933574 [GRCh38]
Chr13:52507710 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.*421C>T |
single nucleotide variant |
Wilson disease [RCV000299766] |
Chr13:51934335 [GRCh38]
Chr13:52508471 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1076A>T |
single nucleotide variant |
Wilson disease [RCV000266561] |
Chr13:51933680 [GRCh38]
Chr13:52507816 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*111G>A |
single nucleotide variant |
Wilson disease [RCV000264391] |
Chr13:51934645 [GRCh38]
Chr13:52508781 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.618T>A (p.Phe206Leu) |
single nucleotide variant |
Wilson disease [RCV000319609] |
Chr13:51974602 [GRCh38]
Chr13:52548738 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) |
single nucleotide variant |
Wilson disease [RCV000343352]|not provided [RCV002261043]|not specified [RCV002282117] |
Chr13:51942523 [GRCh38]
Chr13:52516659 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) |
single nucleotide variant |
Wilson disease [RCV000367067]|not provided [RCV001575381] |
Chr13:51974048 [GRCh38]
Chr13:52548184 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.*870C>T |
single nucleotide variant |
Wilson disease [RCV000345105] |
Chr13:51933886 [GRCh38]
Chr13:52508022 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1265A>G |
single nucleotide variant |
Wilson disease [RCV000368835] |
Chr13:51933491 [GRCh38]
Chr13:52507627 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002518085]|Wilson disease [RCV000665879]|not provided [RCV000273499]|not specified [RCV001553563] |
Chr13:51946423 [GRCh38]
Chr13:52520559 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1036C>T |
single nucleotide variant |
Wilson disease [RCV000324011] |
Chr13:51933720 [GRCh38]
Chr13:52507856 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.51+4A>T |
single nucleotide variant |
Wilson disease [RCV000324263]|not provided [RCV001729524] |
Chr13:52011283 [GRCh38]
Chr13:52585419 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.*1491A>G |
single nucleotide variant |
Wilson disease [RCV000369824] |
Chr13:51933265 [GRCh38]
Chr13:52507401 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) |
single nucleotide variant |
Inborn genetic diseases [RCV002450860]|Wilson disease [RCV000395395]|not provided [RCV001356076]|not specified [RCV002469127] |
Chr13:51942402 [GRCh38]
Chr13:52516538 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002321983]|Wilson disease [RCV000395391]|not provided [RCV001558379]|not specified [RCV000506750] |
Chr13:51944170 [GRCh38]
Chr13:52518306 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) |
single nucleotide variant |
Wilson disease [RCV000396679]|not provided [RCV001579443] |
Chr13:51973990 [GRCh38]
Chr13:52548126 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.-74C>T |
single nucleotide variant |
Wilson disease [RCV000325311] |
Chr13:52011411 [GRCh38]
Chr13:52585547 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*190C>T |
single nucleotide variant |
Wilson disease [RCV000397092] |
Chr13:51934566 [GRCh38]
Chr13:52508702 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1499A>T |
single nucleotide variant |
Wilson disease [RCV000397436] |
Chr13:51933257 [GRCh38]
Chr13:52507393 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) |
single nucleotide variant |
Inborn genetic diseases [RCV002348016]|Wilson disease [RCV001082927]|not provided [RCV000276921] |
Chr13:51937593 [GRCh38]
Chr13:52511729 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.*1005G>T |
single nucleotide variant |
Wilson disease [RCV000327331] |
Chr13:51933751 [GRCh38]
Chr13:52507887 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1409A>C |
single nucleotide variant |
Wilson disease [RCV000399292] |
Chr13:51933347 [GRCh38]
Chr13:52507483 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1805C>T |
single nucleotide variant |
Wilson disease [RCV000375890] |
Chr13:51932951 [GRCh38]
Chr13:52507087 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) |
deletion |
Wilson disease [RCV001729501]|not provided [RCV000329088] |
Chr13:51934959 [GRCh38]
Chr13:52509095 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) |
duplication |
Wilson disease [RCV001729508]|not provided [RCV000329325] |
Chr13:51944244..51944245 [GRCh38]
Chr13:52518380..52518381 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) |
deletion |
Wilson disease [RCV000333158]|not provided [RCV000725177] |
Chr13:51939086 [GRCh38]
Chr13:52513222 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.*1014A>G |
single nucleotide variant |
Wilson disease [RCV000376084] |
Chr13:51933742 [GRCh38]
Chr13:52507878 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1659A>G |
single nucleotide variant |
Wilson disease [RCV000402850] |
Chr13:51933097 [GRCh38]
Chr13:52507233 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) |
single nucleotide variant |
ATP7B-related disorder [RCV004751451]|Inborn genetic diseases [RCV002522293]|Wilson disease [RCV000331049]|not provided [RCV000757022]|not specified [RCV000455157] |
Chr13:51939062 [GRCh38]
Chr13:52513198 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) |
single nucleotide variant |
Wilson disease [RCV000354484] |
Chr13:51974544 [GRCh38]
Chr13:52548680 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.-54G>T |
single nucleotide variant |
Wilson disease [RCV000378795]|not provided [RCV004705283] |
Chr13:52011391 [GRCh38]
Chr13:52585527 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.*1385G>A |
single nucleotide variant |
Wilson disease [RCV000311850]|not provided [RCV002262973] |
Chr13:51933371 [GRCh38]
Chr13:52507507 [GRCh37]
Chr13:13q14.3 |
benign|uncertain significance |
| NM_000053.4(ATP7B):c.*851T>C |
single nucleotide variant |
Wilson disease [RCV000404468] |
Chr13:51933905 [GRCh38]
Chr13:52508041 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) |
single nucleotide variant |
ATP7B-related disorder [RCV003947909]|Inborn genetic diseases [RCV002436109]|Wilson disease [RCV001080148]|not provided [RCV000725741]|not specified [RCV002509346] |
Chr13:51946389 [GRCh38]
Chr13:52520525 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) |
single nucleotide variant |
Wilson disease [RCV000313711]|not provided [RCV000425182]|not specified [RCV001269200] |
Chr13:51974480 [GRCh38]
Chr13:52548616 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.133G>A (p.Glu45Lys) |
single nucleotide variant |
Wilson disease [RCV000359238] |
Chr13:51975087 [GRCh38]
Chr13:52549223 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2191G>A (p.Val731Met) |
single nucleotide variant |
Wilson disease [RCV002518067]|not provided [RCV000398527] |
Chr13:51958475 [GRCh38]
Chr13:52532611 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) |
single nucleotide variant |
Wilson disease [RCV001242406]|not provided [RCV000327770]|not specified [RCV001582911] |
Chr13:51950368 [GRCh38]
Chr13:52524504 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.*1782del |
deletion |
Wilson disease [RCV000278993] |
Chr13:51932974 [GRCh38]
Chr13:52507110 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1172G>A |
single nucleotide variant |
Wilson disease [RCV000315820]|not provided [RCV004707102] |
Chr13:51933584 [GRCh38]
Chr13:52507720 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.*148C>T |
single nucleotide variant |
Wilson disease [RCV000360445]|not provided [RCV001576381] |
Chr13:51934608 [GRCh38]
Chr13:52508744 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val) |
single nucleotide variant |
Wilson disease [RCV001785543]|not provided [RCV000297863] |
Chr13:51949721 [GRCh38]
Chr13:52523857 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) |
single nucleotide variant |
Wilson disease [RCV000671603]|not provided [RCV000401312] |
Chr13:51941170 [GRCh38]
Chr13:52515306 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1708A>G |
single nucleotide variant |
Wilson disease [RCV000340057]|not provided [RCV004707101] |
Chr13:51933048 [GRCh38]
Chr13:52507184 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) |
single nucleotide variant |
ATP7B-related disorder [RCV004751453]|Wilson disease [RCV000363247]|not provided [RCV004597776]|not specified [RCV000605266] |
Chr13:51944247 [GRCh38]
Chr13:52518383 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) |
single nucleotide variant |
ATP7B-related disorder [RCV004751454]|Wilson disease [RCV000388607]|not provided [RCV000999521] |
Chr13:51949772 [GRCh38]
Chr13:52523908 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs) |
duplication |
not provided [RCV000307232] |
Chr13:51968541..51968542 [GRCh38]
Chr13:52542677..52542678 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1543+13C>T |
single nucleotide variant |
Wilson disease [RCV000341242]|not provided [RCV000415979]|not specified [RCV000423547] |
Chr13:51970479 [GRCh38]
Chr13:52544615 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) |
single nucleotide variant |
Wilson disease [RCV000631245]|not provided [RCV001311346]|not specified [RCV000267893] |
Chr13:51970609 [GRCh38]
Chr13:52544745 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2989G>A (p.Val997Met) |
single nucleotide variant |
Wilson disease [RCV003999875]|not provided [RCV000722625] |
Chr13:51946355 [GRCh38]
Chr13:52520491 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) |
single nucleotide variant |
Wilson disease [RCV000674801]|not provided [RCV002261126] |
Chr13:51942482 [GRCh38]
Chr13:52516618 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) |
single nucleotide variant |
Wilson disease [RCV000666672]|not provided [RCV000586771] |
Chr13:51941185 [GRCh38]
Chr13:52515321 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys) |
single nucleotide variant |
Wilson disease [RCV000613956]|not provided [RCV000489206]|not specified [RCV004782400] |
Chr13:51974075 [GRCh38]
Chr13:52548211 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1707+29dup |
duplication |
Wilson disease [RCV001001471]|not provided [RCV000588583] |
Chr13:51968414..51968415 [GRCh38]
Chr13:52542550..52542551 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2374C>T (p.Leu792=) |
single nucleotide variant |
ATP7B-related disorder [RCV004751948]|Wilson disease [RCV001279631] |
Chr13:51957589 [GRCh38]
Chr13:52531725 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn) |
single nucleotide variant |
Wilson disease [RCV001280012]|not provided [RCV002282508] |
Chr13:51968464 [GRCh38]
Chr13:52542600 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1402G>A (p.Ala468Thr) |
single nucleotide variant |
Wilson disease [RCV001280015] |
Chr13:51970633 [GRCh38]
Chr13:52544769 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1002T>C (p.Ser334=) |
single nucleotide variant |
Wilson disease [RCV001280017] |
Chr13:51974218 [GRCh38]
Chr13:52548354 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.360C>T (p.Gly120=) |
single nucleotide variant |
Inborn genetic diseases [RCV002451637]|Wilson disease [RCV001280022] |
Chr13:51974860 [GRCh38]
Chr13:52548996 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.35A>T (p.Glu12Val) |
single nucleotide variant |
Wilson disease [RCV001280026] |
Chr13:52011303 [GRCh38]
Chr13:52585439 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.-441C>G |
single nucleotide variant |
Wilson disease [RCV001280028] |
Chr13:52011778 [GRCh38]
Chr13:52585914 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr) |
single nucleotide variant |
Wilson disease [RCV003320436] |
Chr13:51942475 [GRCh38]
Chr13:52516611 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3999G>A (p.Leu1333=) |
single nucleotide variant |
Wilson disease [RCV005056064]|not provided [RCV000487838] |
Chr13:51937298 [GRCh38]
Chr13:52511434 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2919G>A (p.Gln973=) |
single nucleotide variant |
Wilson disease [RCV001559287] |
Chr13:51946425 [GRCh38]
Chr13:52520561 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) |
single nucleotide variant |
Wilson disease [RCV001858900]|not provided [RCV000999519]|not specified [RCV001248952] |
Chr13:51934922 [GRCh38]
Chr13:52509058 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter) |
single nucleotide variant |
Wilson disease [RCV000490452] |
Chr13:51958517 [GRCh38]
Chr13:52532653 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2241C>A (p.Ile747=) |
single nucleotide variant |
Wilson disease [RCV001279633] |
Chr13:51958425 [GRCh38]
Chr13:52532561 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2730+4A>G |
single nucleotide variant |
Wilson disease [RCV001982634] |
Chr13:51950003 [GRCh38]
Chr13:52524139 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) |
single nucleotide variant |
Wilson disease [RCV000586389]|not provided [RCV003326468] |
Chr13:51958535 [GRCh38]
Chr13:52532671 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) |
duplication |
Wilson disease [RCV000587819] |
Chr13:51946307..51946308 [GRCh38]
Chr13:52520443..52520444 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1231G>A (p.Glu411Lys) |
single nucleotide variant |
Wilson disease [RCV000347240] |
Chr13:51973989 [GRCh38]
Chr13:52548125 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1558T>A |
single nucleotide variant |
Wilson disease [RCV000347710] |
Chr13:51933198 [GRCh38]
Chr13:52507334 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*994_*997del |
deletion |
Wilson disease [RCV000384277] |
Chr13:51933759..51933762 [GRCh38]
Chr13:52507895..52507898 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002448619]|Wilson disease [RCV000532036]|not provided [RCV001091641] |
Chr13:51958334 [GRCh38]
Chr13:52532470 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.*1901G>A |
single nucleotide variant |
Wilson disease [RCV000318047] |
Chr13:51932855 [GRCh38]
Chr13:52506991 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*781T>C |
single nucleotide variant |
Wilson disease [RCV000348772] |
Chr13:51933975 [GRCh38]
Chr13:52508111 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.-122G>A |
single nucleotide variant |
Wilson disease [RCV000404596]|not provided [RCV004693155] |
Chr13:52011459 [GRCh38]
Chr13:52585595 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*786T>C |
single nucleotide variant |
Wilson disease [RCV000295995] |
Chr13:51933970 [GRCh38]
Chr13:52508106 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) |
single nucleotide variant |
Wilson disease [RCV000589178] |
Chr13:51958372 [GRCh38]
Chr13:52532508 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.*1493T>C |
single nucleotide variant |
Wilson disease [RCV000308103] |
Chr13:51933263 [GRCh38]
Chr13:52507399 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) |
single nucleotide variant |
Wilson disease [RCV000670760]|not provided [RCV000597891]|not specified [RCV002307558] |
Chr13:51961868 [GRCh38]
Chr13:52536004 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) |
single nucleotide variant |
Wilson disease [RCV000822876]|not provided [RCV000586062] |
Chr13:51970620 [GRCh38]
Chr13:52544756 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1095C>T |
single nucleotide variant |
Wilson disease [RCV000354329] |
Chr13:51933661 [GRCh38]
Chr13:52507797 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.-73G>T |
single nucleotide variant |
Wilson disease [RCV000288967] |
Chr13:52011410 [GRCh38]
Chr13:52585546 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*221C>A |
single nucleotide variant |
Wilson disease [RCV000356894] |
Chr13:51934535 [GRCh38]
Chr13:52508671 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2469G>C (p.Glu823Asp) |
single nucleotide variant |
Wilson disease [RCV000375785] |
Chr13:51950378 [GRCh38]
Chr13:52524514 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1834A>G (p.Ile612Val) |
single nucleotide variant |
Wilson disease [RCV000376305] |
Chr13:51964907 [GRCh38]
Chr13:52539043 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.-97C>T |
single nucleotide variant |
Wilson disease [RCV000290154] |
Chr13:52011434 [GRCh38]
Chr13:52585570 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*510G>T |
single nucleotide variant |
Wilson disease [RCV000397094] |
Chr13:51934246 [GRCh38]
Chr13:52508382 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.-75C>A |
single nucleotide variant |
Congenital disorder of glycosylation [RCV000296384]|Wilson disease [RCV000384429]|not provided [RCV004708340]|not specified [RCV000434045] |
Chr13:52011412 [GRCh38]
Chr13:52585548 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.*1592T>C |
single nucleotide variant |
Wilson disease [RCV000290896] |
Chr13:51933164 [GRCh38]
Chr13:52507300 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1756T>C |
single nucleotide variant |
Wilson disease [RCV000379243] |
Chr13:51933000 [GRCh38]
Chr13:52507136 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2866-21C>T |
single nucleotide variant |
not specified [RCV000606963] |
Chr13:51946499 [GRCh38]
Chr13:52520635 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) |
single nucleotide variant |
Wilson disease [RCV001829614]|not provided [RCV000588068] |
Chr13:51944131 [GRCh38]
Chr13:52518267 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3858C>G (p.Thr1286=) |
single nucleotide variant |
Wilson disease [RCV001419622]|not specified [RCV000587612] |
Chr13:51937521 [GRCh38]
Chr13:52511657 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) |
single nucleotide variant |
Wilson disease [RCV000586978]|not provided [RCV002223878] |
Chr13:51942551 [GRCh38]
Chr13:52516687 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4022-19C>T |
single nucleotide variant |
Wilson disease [RCV002530886]|not provided [RCV000587905]|not specified [RCV000606511] |
Chr13:51935714 [GRCh38]
Chr13:52509850 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro) |
single nucleotide variant |
Wilson disease [RCV005010560]|not provided [RCV000586340] |
Chr13:51935651 [GRCh38]
Chr13:52509787 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2044A>G (p.Met682Val) |
single nucleotide variant |
Wilson disease [RCV002491160]|not provided [RCV000589255] |
Chr13:51960225 [GRCh38]
Chr13:52534361 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) |
single nucleotide variant |
Wilson disease [RCV000532632] |
Chr13:51934759 [GRCh38]
Chr13:52508895 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) |
single nucleotide variant |
ATP7B-related disorder [RCV003905504]|Inborn genetic diseases [RCV002530885]|Wilson disease [RCV001001851]|not provided [RCV000587250]|not specified [RCV001003423] |
Chr13:51960276 [GRCh38]
Chr13:52534412 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) |
single nucleotide variant |
Inborn genetic diseases [RCV003159989]|Wilson disease [RCV001083662]|not provided [RCV000871678]|not specified [RCV000589499] |
Chr13:51946338 [GRCh38]
Chr13:52520474 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp) |
single nucleotide variant |
Wilson disease [RCV001785668]|not provided [RCV000589627] |
Chr13:51944137 [GRCh38]
Chr13:52518273 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4127A>C (p.Tyr1376Ser) |
single nucleotide variant |
not provided [RCV000589701] |
Chr13:51935027 [GRCh38]
Chr13:52509163 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.445G>A (p.Val149Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002530887]|Wilson disease [RCV001111262]|not provided [RCV000589823] |
Chr13:51974775 [GRCh38]
Chr13:52548911 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg) |
single nucleotide variant |
Wilson disease [RCV001459906]|not provided [RCV000589895] |
Chr13:51970744 [GRCh38]
Chr13:52544880 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2447+8A>G |
single nucleotide variant |
Wilson disease [RCV001273298]|not provided [RCV000590003] |
Chr13:51957508 [GRCh38]
Chr13:52531644 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) |
single nucleotide variant |
Wilson disease [RCV003609157]|not provided [RCV000590198] |
Chr13:51935653 [GRCh38]
Chr13:52509789 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) |
deletion |
Wilson disease [RCV000631236]|not provided [RCV000627424] |
Chr13:51974069..51974075 [GRCh38]
Chr13:52548205..52548211 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.325C>T (p.Leu109=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325149]|Wilson disease [RCV000603728]|not provided [RCV001726257]|not specified [RCV000612067] |
Chr13:51974895 [GRCh38]
Chr13:52549031 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3680C>A (p.Ala1227Asp) |
single nucleotide variant |
not provided [RCV000722539] |
Chr13:51939070 [GRCh38]
Chr13:52513206 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1708-2A>G |
single nucleotide variant |
Wilson disease [RCV000409239] |
Chr13:51965035 [GRCh38]
Chr13:52539171 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter) |
single nucleotide variant |
Wilson disease [RCV000409337] |
Chr13:51970663 [GRCh38]
Chr13:52544799 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) |
duplication |
Wilson disease [RCV000409526]|not provided [RCV000489522] |
Chr13:51974830..51974831 [GRCh38]
Chr13:52548966..52548967 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NC_000013.11:g.(?_51973915)_(51975188_?)del |
deletion |
Wilson disease [RCV000559283] |
Chr13:51973915..51975188 [GRCh38]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) |
duplication |
Wilson disease [RCV000409626] |
Chr13:51970522..51970523 [GRCh38]
Chr13:52544658..52544659 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) |
single nucleotide variant |
Wilson disease [RCV000409630]|not specified [RCV002469139] |
Chr13:51941211 [GRCh38]
Chr13:52515347 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2810del (p.Val937fs) |
deletion |
Inborn genetic diseases [RCV002436230]|Wilson disease [RCV000409795]|not provided [RCV000482624] |
Chr13:51949717 [GRCh38]
Chr13:52523853 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) |
deletion |
Wilson disease [RCV000409938] |
Chr13:51934912 [GRCh38]
Chr13:52509048 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) |
single nucleotide variant |
Wilson disease [RCV000410034] |
Chr13:51942503 [GRCh38]
Chr13:52516639 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) |
microsatellite |
Wilson disease [RCV000410145]|not provided [RCV002222500] |
Chr13:51935624..51935625 [GRCh38]
Chr13:52509760..52509761 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) |
deletion |
Wilson disease [RCV000410735] |
Chr13:51965025 [GRCh38]
Chr13:52539161 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val) |
single nucleotide variant |
Wilson disease [RCV002521469]|not provided [RCV000416025] |
Chr13:51941087 [GRCh38]
Chr13:52515223 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) |
deletion |
Wilson disease [RCV000410818] |
Chr13:51937354..51937355 [GRCh38]
Chr13:52511490..52511491 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) |
single nucleotide variant |
Wilson disease [RCV000410917]|not provided [RCV003480625] |
Chr13:51949710 [GRCh38]
Chr13:52523846 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.174dup (p.Thr59fs) |
duplication |
Wilson disease [RCV000410969]|not provided [RCV004791437] |
Chr13:51975045..51975046 [GRCh38]
Chr13:52549181..52549182 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) |
single nucleotide variant |
Wilson disease [RCV000410970] |
Chr13:51958363 [GRCh38]
Chr13:52532499 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) |
single nucleotide variant |
Wilson disease [RCV000410994] |
Chr13:51944248 [GRCh38]
Chr13:52518384 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu) |
single nucleotide variant |
Hand tremor [RCV000415306]|Wilson disease [RCV001198322] |
Chr13:51946381 [GRCh38]
Chr13:52520517 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3904-2A>G |
single nucleotide variant |
Wilson disease [RCV000411074]|not provided [RCV001507824] |
Chr13:51937395 [GRCh38]
Chr13:52511531 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) |
single nucleotide variant |
Wilson disease [RCV000411139] |
Chr13:51935603 [GRCh38]
Chr13:52509739 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.52-1G>T |
single nucleotide variant |
Wilson disease [RCV000411235] |
Chr13:51975169 [GRCh38]
Chr13:52549305 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1708-1G>A |
single nucleotide variant |
Wilson disease [RCV000411333] |
Chr13:51965034 [GRCh38]
Chr13:52539170 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2447+1del |
deletion |
Wilson disease [RCV000411401] |
Chr13:51957515 [GRCh38]
Chr13:52531651 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) |
duplication |
Wilson disease [RCV000411545] |
Chr13:51964920..51964921 [GRCh38]
Chr13:52539056..52539057 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) |
single nucleotide variant |
Wilson disease [RCV000411554] |
Chr13:51970565 [GRCh38]
Chr13:52544701 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2730+1G>A |
single nucleotide variant |
Wilson disease [RCV000411590] |
Chr13:51950006 [GRCh38]
Chr13:52524142 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002323574]|Wilson disease [RCV000411652]|not provided [RCV001091637] |
Chr13:51944161 [GRCh38]
Chr13:52518297 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) |
single nucleotide variant |
Wilson disease [RCV000411738] |
Chr13:51958509 [GRCh38]
Chr13:52532645 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.525dup (p.Val176fs) |
duplication |
Wilson disease [RCV000411870]|not provided [RCV002254294] |
Chr13:51974694..51974695 [GRCh38]
Chr13:52548830..52548831 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) |
single nucleotide variant |
Wilson disease [RCV000411980]|not provided [RCV001508707] |
Chr13:51942481 [GRCh38]
Chr13:52516617 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) |
single nucleotide variant |
Wilson disease [RCV000412018] |
Chr13:51975117 [GRCh38]
Chr13:52549253 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) |
single nucleotide variant |
Wilson disease [RCV000412086]|not provided [RCV001531799] |
Chr13:51941108 [GRCh38]
Chr13:52515244 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002533065]|Wilson disease [RCV002535024]|not provided [RCV000722212] |
Chr13:51974409 [GRCh38]
Chr13:52548545 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) |
deletion |
Wilson disease [RCV000412326] |
Chr13:51937579 [GRCh38]
Chr13:52511715 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) |
deletion |
Wilson disease [RCV000412369] |
Chr13:51937349 [GRCh38]
Chr13:52511485 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) |
deletion |
Wilson disease [RCV000412377] |
Chr13:51970692..51970695 [GRCh38]
Chr13:52544828..52544831 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs) |
insertion |
Wilson disease [RCV000412459] |
Chr13:51970697..51970698 [GRCh38]
Chr13:52544833..52544834 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser) |
single nucleotide variant |
Wilson disease [RCV002476335]|not provided [RCV000594979] |
Chr13:51974975 [GRCh38]
Chr13:52549111 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) |
copy number gain |
See cases [RCV000449142] |
Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 |
copy number loss |
See cases [RCV000446747] |
Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3 |
pathogenic |
| GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 |
copy number loss |
See cases [RCV000446067] |
Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31 |
pathogenic |
| NM_000053.4(ATP7B):c.3243+5G>A |
single nucleotide variant |
Wilson disease [RCV001785612]|not provided [RCV000441386]|not specified [RCV002298584] |
Chr13:51944104 [GRCh38]
Chr13:52518240 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met) |
single nucleotide variant |
Wilson disease [RCV001828411]|not provided [RCV000427717]|not specified [RCV002265761] |
Chr13:51939127 [GRCh38]
Chr13:52513263 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.51+13C>T |
single nucleotide variant |
Wilson disease [RCV001113268]|not specified [RCV000441986] |
Chr13:52011274 [GRCh38]
Chr13:52585410 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) |
single nucleotide variant |
Inborn genetic diseases [RCV003352863]|Wilson disease [RCV000959396]|not provided [RCV000424597] |
Chr13:51944192 [GRCh38]
Chr13:52518328 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
See cases [RCV000445886] |
Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) |
single nucleotide variant |
ATP7B-related disorder [RCV003899898]|Inborn genetic diseases [RCV002411412]|Wilson disease [RCV000922243]|not specified [RCV000438817] |
Chr13:51964902 [GRCh38]
Chr13:52539038 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) |
single nucleotide variant |
ATP7B-related disorder [RCV003932647]|Inborn genetic diseases [RCV002451013]|Wilson disease [RCV001081467]|not provided [RCV000590019]|not specified [RCV000428724] |
Chr13:51942393 [GRCh38]
Chr13:52516529 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) |
single nucleotide variant |
Wilson disease [RCV000667536]|not provided [RCV000430661] |
Chr13:51950277 [GRCh38]
Chr13:52524413 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) |
single nucleotide variant |
ATP7B-related disorder [RCV003932639]|Inborn genetic diseases [RCV002402169]|Wilson disease [RCV001079657]|not provided [RCV000587027]|not specified [RCV000422745] |
Chr13:51965013 [GRCh38]
Chr13:52539149 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.-676A>G |
single nucleotide variant |
ATP7B-related disorder [RCV004751525]|Wilson disease [RCV000626321]|not provided [RCV000426325] |
Chr13:52012013 [GRCh38]
Chr13:52586149 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) |
single nucleotide variant |
Wilson disease [RCV000780936]|not provided [RCV000434557] |
Chr13:51946439 [GRCh38]
Chr13:52520575 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1947-4C>T |
single nucleotide variant |
Wilson disease [RCV000631244]|not provided [RCV001721333]|not specified [RCV000440735] |
Chr13:51960326 [GRCh38]
Chr13:52534462 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met) |
single nucleotide variant |
Wilson disease [RCV001861551]|not specified [RCV000423231] |
Chr13:51964981 [GRCh38]
Chr13:52539117 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1215C>T (p.Pro405=) |
single nucleotide variant |
not specified [RCV000437479] |
Chr13:51974005 [GRCh38]
Chr13:52548141 [GRCh37]
Chr13:13q14.3 |
likely benign |
| GRCh37/hg19 13q14.2-14.3(chr13:48906943-52778614)x1 |
copy number loss |
See cases [RCV000448535] |
Chr13:48906943..52778614 [GRCh37]
Chr13:13q14.2-14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) |
deletion |
Wilson disease [RCV000477923] |
Chr13:51970658..51970661 [GRCh38]
Chr13:52544794..52544797 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) |
deletion |
ATP7B-related disorder [RCV003392307]|Wilson disease [RCV000576360]|not provided [RCV000478984]|not specified [RCV001175369] |
Chr13:52011318..52011319 [GRCh38]
Chr13:52585454..52585455 [GRCh37]
Chr13:13q14.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2901del (p.Ile968fs) |
deletion |
Wilson disease [RCV004003388]|not provided [RCV000479903] |
Chr13:51946443 [GRCh38]
Chr13:52520579 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val) |
single nucleotide variant |
Wilson disease [RCV000799490]|not provided [RCV000478702] |
Chr13:51934991 [GRCh38]
Chr13:52509127 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) |
single nucleotide variant |
Wilson disease [RCV000487452] |
Chr13:51944116 [GRCh38]
Chr13:52518252 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002525825]|Wilson disease [RCV000631248]|not provided [RCV000587060]|not specified [RCV001263514] |
Chr13:51961861 [GRCh38]
Chr13:52535997 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733) |
copy number gain |
See cases [RCV000510405] |
Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1 |
copy number loss |
not provided [RCV000509218] |
Chr13:51786657..54834098 [GRCh37]
Chr13:13q14.3 |
not provided |
| NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) |
single nucleotide variant |
Wilson disease [RCV001363728]|not provided [RCV002261096]|not specified [RCV000499538] |
Chr13:51934793 [GRCh38]
Chr13:52508929 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) |
single nucleotide variant |
ATP7B-related disorder [RCV003925432]|Inborn genetic diseases [RCV004023329]|Wilson disease [RCV001239682]|not provided [RCV000755833]|not specified [RCV001532891] |
Chr13:51974873 [GRCh38]
Chr13:52549009 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) |
single nucleotide variant |
Wilson disease [RCV000691710]|not provided [RCV001840619]|not specified [RCV000508427] |
Chr13:51964912 [GRCh38]
Chr13:52539048 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1870-65G>A |
single nucleotide variant |
Wilson disease [RCV001533480]|not provided [RCV001644563]|not specified [RCV000506124] |
Chr13:51961978 [GRCh38]
Chr13:52536114 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.4290del (p.Ser1431fs) |
deletion |
not specified [RCV000506542] |
Chr13:51934864 [GRCh38]
Chr13:52509000 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002527096]|Wilson disease [RCV000984147]|not provided [RCV000494555] |
Chr13:51937305 [GRCh38]
Chr13:52511441 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val) |
single nucleotide variant |
Wilson disease [RCV001275015]|not provided [RCV000494566] |
Chr13:51944291 [GRCh38]
Chr13:52518427 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) |
single nucleotide variant |
Wilson disease [RCV000945359]|not provided [RCV003480658]|not specified [RCV000507116] |
Chr13:51974868 [GRCh38]
Chr13:52549004 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3557-31G>T |
single nucleotide variant |
Wilson disease [RCV000507402]|not provided [RCV001591154] |
Chr13:51939224 [GRCh38]
Chr13:52513360 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 |
copy number gain |
See cases [RCV000511880] |
Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.2975C>A (p.Pro992His) |
single nucleotide variant |
Wilson disease [RCV000669351] |
Chr13:51946369 [GRCh38]
Chr13:52520505 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) |
single nucleotide variant |
Wilson disease [RCV000669064]|not provided [RCV001531798] |
Chr13:51937502 [GRCh38]
Chr13:52511638 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) |
single nucleotide variant |
Wilson disease [RCV000495835]|not provided [RCV003480655] |
Chr13:51942493 [GRCh38]
Chr13:52516629 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) |
single nucleotide variant |
Inborn genetic diseases [RCV003159739]|Wilson disease [RCV000534142] |
Chr13:51944141 [GRCh38]
Chr13:52518277 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) |
single nucleotide variant |
Wilson disease [RCV000925140]|not specified [RCV000604203] |
Chr13:51958476 [GRCh38]
Chr13:52532612 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1428A>G (p.Ala476=) |
single nucleotide variant |
ATP7B-related disorder [RCV003927994]|Wilson disease [RCV001490657]|not provided [RCV003392449]|not specified [RCV000604995] |
Chr13:51970607 [GRCh38]
Chr13:52544743 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.999G>T (p.Gly333=) |
single nucleotide variant |
Wilson disease [RCV004002461]|not provided [RCV000596907] |
Chr13:51974221 [GRCh38]
Chr13:52548357 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3556+1G>T |
single nucleotide variant |
Wilson disease [RCV000587514] |
Chr13:51941080 [GRCh38]
Chr13:52515216 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs) |
duplication |
Wilson disease [RCV001285051] |
Chr13:51937611..51937612 [GRCh38]
Chr13:52511747..52511748 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1708-5T>G |
single nucleotide variant |
Wilson disease [RCV000589652] |
Chr13:51965038 [GRCh38]
Chr13:52539174 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) |
single nucleotide variant |
Wilson disease [RCV000671983]|not specified [RCV002469250] |
Chr13:51960200 [GRCh38]
Chr13:52534336 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) |
single nucleotide variant |
Wilson disease [RCV000672021] |
Chr13:51946382 [GRCh38]
Chr13:52520518 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) |
single nucleotide variant |
Wilson disease [RCV000937952]|not specified [RCV000585948] |
Chr13:51958365 [GRCh38]
Chr13:52532501 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) |
deletion |
Wilson disease [RCV000631235] |
Chr13:51941188 [GRCh38]
Chr13:52515324 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1461G>A (p.Pro487=) |
single nucleotide variant |
Wilson disease [RCV000631240] |
Chr13:51970574 [GRCh38]
Chr13:52544710 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1911C>T (p.Asn637=) |
single nucleotide variant |
Wilson disease [RCV000631242] |
Chr13:51961872 [GRCh38]
Chr13:52536008 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002350175]|Wilson disease [RCV000541103]|not provided [RCV001507826] |
Chr13:51937663 [GRCh38]
Chr13:52511799 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) |
single nucleotide variant |
Wilson disease [RCV000631234] |
Chr13:51961859 [GRCh38]
Chr13:52535995 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1285+5G>T |
single nucleotide variant |
ATP7B-related disorder [RCV003980208]|Inborn genetic diseases [RCV000624233]|Wilson disease [RCV001004593]|not provided [RCV000996144] |
Chr13:51973930 [GRCh38]
Chr13:52548066 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2575+5G>C |
single nucleotide variant |
Wilson disease [RCV000672253] |
Chr13:51950267 [GRCh38]
Chr13:52524403 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) |
single nucleotide variant |
Wilson disease [RCV000672293]|not specified [RCV004689846] |
Chr13:51935611 [GRCh38]
Chr13:52509747 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) |
single nucleotide variant |
Inborn genetic diseases [RCV003160087]|Wilson disease [RCV000904599]|not provided [RCV001697464] |
Chr13:51946365 [GRCh38]
Chr13:52520501 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+3A>G |
single nucleotide variant |
Wilson disease [RCV000631252]|not provided [RCV001597189] |
Chr13:51937273 [GRCh38]
Chr13:52511409 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2448-11G>A |
single nucleotide variant |
Wilson disease [RCV002063022]|not provided [RCV001722622]|not specified [RCV000615865] |
Chr13:51950410 [GRCh38]
Chr13:52524546 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) |
single nucleotide variant |
ATP7B-related disorder [RCV003962765]|Inborn genetic diseases [RCV002456342]|Wilson disease [RCV000886974]|not provided [RCV001697571] |
Chr13:51939126 [GRCh38]
Chr13:52513262 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1947-15G>T |
single nucleotide variant |
not specified [RCV000612957] |
Chr13:51960337 [GRCh38]
Chr13:52534473 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1708-14A>G |
single nucleotide variant |
Wilson disease [RCV002062904]|not specified [RCV000613221] |
Chr13:51965047 [GRCh38]
Chr13:52539183 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3360G>A (p.Leu1120=) |
single nucleotide variant |
not provided [RCV001697555] |
Chr13:51942438 [GRCh38]
Chr13:52516574 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2067T>C (p.Ile689=) |
single nucleotide variant |
Wilson disease [RCV002063900]|not specified [RCV000611347] |
Chr13:51960202 [GRCh38]
Chr13:52534338 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1041C>T (p.Gly347=) |
single nucleotide variant |
not specified [RCV000611656] |
Chr13:51974179 [GRCh38]
Chr13:52548315 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3097A>G (p.Thr1033Ala) |
single nucleotide variant |
Wilson disease [RCV000631238] |
Chr13:51944255 [GRCh38]
Chr13:52518391 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2535C>G (p.Val845=) |
single nucleotide variant |
Inborn genetic diseases [RCV003311508] |
Chr13:51950312 [GRCh38]
Chr13:52524448 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2843G>T (p.Gly948Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003311510] |
Chr13:51949684 [GRCh38]
Chr13:52523820 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) |
single nucleotide variant |
Wilson disease [RCV000670079]|not provided [RCV001509442] |
Chr13:51950298 [GRCh38]
Chr13:52524434 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.51+15C>G |
single nucleotide variant |
not specified [RCV000602135] |
Chr13:52011272 [GRCh38]
Chr13:52585408 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs) |
indel |
Wilson disease [RCV000631233] |
Chr13:51950368..51950369 [GRCh38]
Chr13:52524504..52524505 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) |
indel |
Wilson disease [RCV000631237] |
Chr13:51937384..51937385 [GRCh38]
Chr13:52511520..52511521 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) |
single nucleotide variant |
Wilson disease [RCV000631243]|not provided [RCV000842118] |
Chr13:51970673 [GRCh38]
Chr13:52544809 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+8C>T |
single nucleotide variant |
Wilson disease [RCV001490956] |
Chr13:51935585 [GRCh38]
Chr13:52509721 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2583C>T (p.Ala861=) |
single nucleotide variant |
Inborn genetic diseases [RCV004025397]|Wilson disease [RCV000631251] |
Chr13:51950154 [GRCh38]
Chr13:52524290 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) |
single nucleotide variant |
Wilson disease [RCV001396219] |
Chr13:51974035 [GRCh38]
Chr13:52548171 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002341199]|Wilson disease [RCV001112990]|not provided [RCV000512673] |
Chr13:51939167 [GRCh38]
Chr13:52513303 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1946+6T>C |
single nucleotide variant |
Wilson disease [RCV000588787]|not provided [RCV003480706] |
Chr13:51961831 [GRCh38]
Chr13:52535967 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NC_000013.11:g.52011745A>G |
single nucleotide variant |
Wilson disease [RCV000648393]|not provided [RCV000835006] |
Chr13:52011745 [GRCh38]
Chr13:52585881 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) |
single nucleotide variant |
Wilson disease [RCV000670982]|not provided [RCV000513406]|not specified [RCV003488645] |
Chr13:51934941 [GRCh38]
Chr13:52509077 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3061-12T>A |
single nucleotide variant |
Wilson disease [RCV000673212] |
Chr13:51944303 [GRCh38]
Chr13:52518439 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) |
single nucleotide variant |
Wilson disease [RCV001084498]|not provided [RCV000757024] |
Chr13:51942395 [GRCh38]
Chr13:52516531 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1870-1G>C |
single nucleotide variant |
Wilson disease [RCV003486306] |
Chr13:51961914 [GRCh38]
Chr13:52536050 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2128_2133del (p.Gly710_Gly711del) |
deletion |
Wilson disease [RCV003486021] |
Chr13:51958533..51958538 [GRCh38]
Chr13:52532669..52532674 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His) |
single nucleotide variant |
Wilson disease [RCV000673040]|not specified [RCV004586870] |
Chr13:51958523 [GRCh38]
Chr13:52532659 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2575+1G>A |
single nucleotide variant |
Wilson disease [RCV000673153] |
Chr13:51950271 [GRCh38]
Chr13:52524407 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3700-1G>A |
single nucleotide variant |
Wilson disease [RCV000664525] |
Chr13:51937680 [GRCh38]
Chr13:52511816 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter) |
single nucleotide variant |
Wilson disease [RCV000672351] |
Chr13:51960269 [GRCh38]
Chr13:52534405 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| Single allele |
deletion |
Intellectual disability [RCV000684766] |
Chr13:48225451..58070399 [GRCh37]
Chr13:13q14.2-21.1 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) |
single nucleotide variant |
Wilson disease [RCV000672804] |
Chr13:51937516 [GRCh38]
Chr13:52511652 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del) |
microsatellite |
Wilson disease [RCV000673368] |
Chr13:51960170..51960172 [GRCh38]
Chr13:52534306..52534308 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.52011725G>A |
single nucleotide variant |
Wilson disease [RCV000670674] |
Chr13:52011725 [GRCh38]
Chr13:52585861 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) |
single nucleotide variant |
Wilson disease [RCV000670901] |
Chr13:51939056 [GRCh38]
Chr13:52513192 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly) |
single nucleotide variant |
Wilson disease [RCV000672615] |
Chr13:51939106 [GRCh38]
Chr13:52513242 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) |
single nucleotide variant |
ATP7B-related disorder [RCV003420191]|Wilson disease [RCV000672631] |
Chr13:51946405 [GRCh38]
Chr13:52520541 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) |
single nucleotide variant |
Wilson disease [RCV000670965] |
Chr13:51935654 [GRCh38]
Chr13:52509790 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004026114]|Wilson disease [RCV000670460]|not provided [RCV001310697]|not specified [RCV002469248] |
Chr13:51946366 [GRCh38]
Chr13:52520502 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) |
single nucleotide variant |
Wilson disease [RCV000670692]|not specified [RCV000779812] |
Chr13:51937516 [GRCh38]
Chr13:52511652 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter) |
duplication |
Wilson disease [RCV000670854] |
Chr13:51958443..51958444 [GRCh38]
Chr13:52532579..52532580 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter) |
single nucleotide variant |
Wilson disease [RCV000670942] |
Chr13:51958521 [GRCh38]
Chr13:52532657 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del) |
deletion |
Wilson disease [RCV000671069] |
Chr13:51937504..51937527 [GRCh38]
Chr13:52511640..52511663 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) |
single nucleotide variant |
Wilson disease [RCV000671462]|not provided [RCV001509447] |
Chr13:51958535 [GRCh38]
Chr13:52532671 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs) |
duplication |
Wilson disease [RCV000669657] |
Chr13:51934817..51934818 [GRCh38]
Chr13:52508953..52508954 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1392dup (p.Arg465fs) |
duplication |
Wilson disease [RCV000669815] |
Chr13:51970642..51970643 [GRCh38]
Chr13:52544778..52544779 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) |
single nucleotide variant |
Wilson disease [RCV000669922] |
Chr13:51942532 [GRCh38]
Chr13:52516668 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) |
single nucleotide variant |
Wilson disease [RCV000671472]|not provided [RCV001805793] |
Chr13:51939161 [GRCh38]
Chr13:52513297 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.268_270del (p.Lys90del) |
deletion |
Wilson disease [RCV000668810] |
Chr13:51974950..51974952 [GRCh38]
Chr13:52549086..52549088 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) |
single nucleotide variant |
Wilson disease [RCV000668962] |
Chr13:51937543 [GRCh38]
Chr13:52511679 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) |
indel |
Wilson disease [RCV000665279] |
Chr13:51973997..51973999 [GRCh38]
Chr13:52548133..52548135 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser) |
single nucleotide variant |
Wilson disease [RCV000666773] |
Chr13:51935593 [GRCh38]
Chr13:52509729 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2121+3A>G |
single nucleotide variant |
Wilson disease [RCV000667868] |
Chr13:51960145 [GRCh38]
Chr13:52534281 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) |
deletion |
Wilson disease [RCV000667955] |
Chr13:51960169..51960172 [GRCh38]
Chr13:52534305..52534308 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) |
single nucleotide variant |
Wilson disease [RCV000670652] |
Chr13:51974632 [GRCh38]
Chr13:52548768 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.3(ATP7B):c.-128_-127insGCCGT |
insertion |
Wilson disease [RCV000670993] |
Chr13:52011460..52011461 [GRCh38]
Chr13:52585596..52585597 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly) |
single nucleotide variant |
Wilson disease [RCV001248490] |
Chr13:51974831 [GRCh38]
Chr13:52548967 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del) |
deletion |
Wilson disease [RCV000665448] |
Chr13:51974445..51974456 [GRCh38]
Chr13:52548581..52548592 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) |
single nucleotide variant |
Wilson disease [RCV000665474]|not provided [RCV001508708] |
Chr13:51944149 [GRCh38]
Chr13:52518285 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg) |
single nucleotide variant |
Wilson disease [RCV000665530]|not provided [RCV004792360] |
Chr13:51958312 [GRCh38]
Chr13:52532448 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs) |
duplication |
Wilson disease [RCV000668180] |
Chr13:51944194..51944195 [GRCh38]
Chr13:52518330..52518331 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) |
deletion |
Wilson disease [RCV000668279] |
Chr13:51937291 [GRCh38]
Chr13:52511427 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4125-2A>G |
single nucleotide variant |
Wilson disease [RCV000668311] |
Chr13:51935031 [GRCh38]
Chr13:52509167 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) |
single nucleotide variant |
Wilson disease [RCV000672082]|not specified [RCV003155276] |
Chr13:51958415 [GRCh38]
Chr13:52532551 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter) |
single nucleotide variant |
Wilson disease [RCV000665586] |
Chr13:51968512 [GRCh38]
Chr13:52542648 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3243+1G>A |
single nucleotide variant |
Wilson disease [RCV000674164]|not provided [RCV003480757] |
Chr13:51944108 [GRCh38]
Chr13:52518244 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2304del (p.Met769fs) |
deletion |
Inborn genetic diseases [RCV002444526]|Wilson disease [RCV000665644]|not provided [RCV002292466] |
Chr13:51958362 [GRCh38]
Chr13:52532498 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser) |
single nucleotide variant |
Wilson disease [RCV000665695] |
Chr13:51944144 [GRCh38]
Chr13:52518280 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) |
single nucleotide variant |
ATP7B-related disorder [RCV003907929]|Wilson disease [RCV000665805]|not provided [RCV003992365] |
Chr13:51958333 [GRCh38]
Chr13:52532469 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) |
single nucleotide variant |
Wilson disease [RCV000666811]|not specified [RCV003987656] |
Chr13:51950367 [GRCh38]
Chr13:52524503 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg) |
single nucleotide variant |
Wilson disease [RCV000668464] |
Chr13:51944278 [GRCh38]
Chr13:52518414 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) |
deletion |
Wilson disease [RCV000668650] |
Chr13:51949695..51949701 [GRCh38]
Chr13:52523831..52523837 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002531207]|Wilson disease [RCV000668718]|not provided [RCV000757021]|not specified [RCV000779813] |
Chr13:51942526 [GRCh38]
Chr13:52516662 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile) |
single nucleotide variant |
Wilson disease [RCV000672441] |
Chr13:51944266 [GRCh38]
Chr13:52518402 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2217dup (p.Ala740fs) |
duplication |
Wilson disease [RCV000672569] |
Chr13:51958448..51958449 [GRCh38]
Chr13:52532584..52532585 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) |
duplication |
Wilson disease [RCV000666038] |
Chr13:51934870..51934871 [GRCh38]
Chr13:52509006..52509007 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2355+4A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002442394]|Wilson disease [RCV000666959] |
Chr13:51958307 [GRCh38]
Chr13:52532443 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2576-2A>G |
single nucleotide variant |
Wilson disease [RCV000667057] |
Chr13:51950163 [GRCh38]
Chr13:52524299 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter) |
single nucleotide variant |
Wilson disease [RCV000673015] |
Chr13:51960231 [GRCh38]
Chr13:52534367 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp) |
single nucleotide variant |
Wilson disease [RCV000673083] |
Chr13:51950065 [GRCh38]
Chr13:52524201 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) |
single nucleotide variant |
Wilson disease [RCV000670601] |
Chr13:51957535 [GRCh38]
Chr13:52531671 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) |
single nucleotide variant |
Wilson disease [RCV000665305]|not provided [RCV003480751] |
Chr13:51944224 [GRCh38]
Chr13:52518360 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del) |
deletion |
Wilson disease [RCV000667380] |
Chr13:51939086..51939088 [GRCh38]
Chr13:52513222..52513224 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2845GTT[1] (p.Val950del) |
microsatellite |
Wilson disease [RCV000671147] |
Chr13:51949677..51949679 [GRCh38]
Chr13:52523813..52523815 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) |
single nucleotide variant |
Wilson disease [RCV000670761] |
Chr13:51958399 [GRCh38]
Chr13:52532535 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) |
microsatellite |
Wilson disease [RCV000673710] |
Chr13:51958432..51958433 [GRCh38]
Chr13:52532568..52532569 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) |
deletion |
Wilson disease [RCV000665298] |
Chr13:51937570 [GRCh38]
Chr13:52511706 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) |
single nucleotide variant |
Wilson disease [RCV000667455] |
Chr13:51949775 [GRCh38]
Chr13:52523911 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) |
single nucleotide variant |
Wilson disease [RCV000667577] |
Chr13:51939088 [GRCh38]
Chr13:52513224 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) |
single nucleotide variant |
Wilson disease [RCV000667611] |
Chr13:51958387 [GRCh38]
Chr13:52532523 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) |
single nucleotide variant |
Wilson disease [RCV000671607]|not provided [RCV004792366] |
Chr13:51974814 [GRCh38]
Chr13:52548950 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile) |
single nucleotide variant |
Wilson disease [RCV000671715] |
Chr13:51946293 [GRCh38]
Chr13:52520429 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2356-1G>A |
single nucleotide variant |
Wilson disease [RCV000674374] |
Chr13:51957608 [GRCh38]
Chr13:52531744 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2356-1G>C |
single nucleotide variant |
Wilson disease [RCV000665943] |
Chr13:51957608 [GRCh38]
Chr13:52531744 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter) |
single nucleotide variant |
Wilson disease [RCV000671014] |
Chr13:51949784 [GRCh38]
Chr13:52523920 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) |
single nucleotide variant |
Wilson disease [RCV000671031] |
Chr13:51960197 [GRCh38]
Chr13:52534333 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.3(ATP7B):c.-127CG[2][1] |
microsatellite |
Wilson disease [RCV000665647] |
Chr13:52011463..52011464 [GRCh38]
Chr13:52585599..52585600 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.432_434del (p.Val145del) |
deletion |
Wilson disease [RCV000665729] |
Chr13:51974786..51974788 [GRCh38]
Chr13:52548922..52548924 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) |
single nucleotide variant |
Wilson disease [RCV000667671] |
Chr13:51937579 [GRCh38]
Chr13:52511715 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) |
single nucleotide variant |
Wilson disease [RCV000667901]|not provided [RCV001531802] |
Chr13:51964894 [GRCh38]
Chr13:52539030 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) |
single nucleotide variant |
Wilson disease [RCV000671512]|not provided [RCV004702300] |
Chr13:51944197 [GRCh38]
Chr13:52518333 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del) |
deletion |
Wilson disease [RCV000671536] |
Chr13:51941204..51941206 [GRCh38]
Chr13:52515340..52515342 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) |
single nucleotide variant |
Wilson disease [RCV000671716]|not specified [RCV002282316] |
Chr13:51968535 [GRCh38]
Chr13:52542671 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.-436_-422del |
deletion |
Wilson disease [RCV000671857] |
Chr13:52011759..52011773 [GRCh38]
Chr13:52585895..52585909 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) |
single nucleotide variant |
Wilson disease [RCV000665883]|not provided [RCV001508709] |
Chr13:51944162 [GRCh38]
Chr13:52518298 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) |
single nucleotide variant |
Wilson disease [RCV000668116] |
Chr13:51935599 [GRCh38]
Chr13:52509735 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Wilson disease [RCV000668127] |
Chr13:52011335 [GRCh38]
Chr13:52585471 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.3(ATP7B):c.-676_-659dup |
duplication |
Wilson disease [RCV000668150] |
Chr13:52011995..52011996 [GRCh38]
Chr13:52586131..52586132 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) |
single nucleotide variant |
Wilson disease [RCV000673490]|not provided [RCV001091640] |
Chr13:51958331 [GRCh38]
Chr13:52532467 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) |
single nucleotide variant |
Wilson disease [RCV000664948] |
Chr13:51974570 [GRCh38]
Chr13:52548706 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.3(ATP7B):c.-127_-126GC[2][1] |
microsatellite |
Wilson disease [RCV000673605] |
Chr13:52011462..52011463 [GRCh38]
Chr13:52585598..52585599 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) |
single nucleotide variant |
Wilson disease [RCV000673614] |
Chr13:51941131 [GRCh38]
Chr13:52515267 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) |
single nucleotide variant |
Wilson disease [RCV000671946] |
Chr13:51937646 [GRCh38]
Chr13:52511782 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) |
deletion |
Wilson disease [RCV000666080]|not provided [RCV004792361] |
Chr13:51944205 [GRCh38]
Chr13:52518341 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter) |
single nucleotide variant |
Wilson disease [RCV000666121] |
Chr13:51934767 [GRCh38]
Chr13:52508903 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) |
single nucleotide variant |
Wilson disease [RCV000666140] |
Chr13:51950146 [GRCh38]
Chr13:52524282 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) |
single nucleotide variant |
Wilson disease [RCV000668265] |
Chr13:51937657 [GRCh38]
Chr13:52511793 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) |
single nucleotide variant |
Wilson disease [RCV000668408] |
Chr13:51949730 [GRCh38]
Chr13:52523866 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met) |
single nucleotide variant |
Wilson disease [RCV000668453] |
Chr13:51941201 [GRCh38]
Chr13:52515337 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser) |
single nucleotide variant |
Wilson disease [RCV000667021] |
Chr13:51946364 [GRCh38]
Chr13:52520500 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2122-1G>A |
single nucleotide variant |
Wilson disease [RCV000666348] |
Chr13:51958545 [GRCh38]
Chr13:52532681 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly) |
single nucleotide variant |
Wilson disease [RCV000665607] |
Chr13:51941186 [GRCh38]
Chr13:52515322 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1739del (p.His580fs) |
deletion |
Wilson disease [RCV000668761]|not provided [RCV004702285] |
Chr13:51965002 [GRCh38]
Chr13:52539138 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs) |
microsatellite |
Wilson disease [RCV000672481] |
Chr13:51960256..51960257 [GRCh38]
Chr13:52534392..52534393 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs) |
indel |
Wilson disease [RCV000672614] |
Chr13:51957523..51957525 [GRCh38]
Chr13:52531659..52531661 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp) |
single nucleotide variant |
Wilson disease [RCV000672637] |
Chr13:51935653 [GRCh38]
Chr13:52509789 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) |
single nucleotide variant |
Wilson disease [RCV000674965] |
Chr13:51949700 [GRCh38]
Chr13:52523836 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) |
duplication |
Wilson disease [RCV000673716] |
Chr13:51974481..51974482 [GRCh38]
Chr13:52548617..52548618 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4325del (p.Ser1442fs) |
deletion |
Wilson disease [RCV000673859] |
Chr13:51934829 [GRCh38]
Chr13:52508965 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2480G>C (p.Arg827Pro) |
single nucleotide variant |
Wilson disease [RCV000674608] |
Chr13:51950367 [GRCh38]
Chr13:52524503 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) |
single nucleotide variant |
Wilson disease [RCV000674914] |
Chr13:51944281 [GRCh38]
Chr13:52518417 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter) |
single nucleotide variant |
Wilson disease [RCV000672954]|not provided [RCV003222092] |
Chr13:51974379 [GRCh38]
Chr13:52548515 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) |
deletion |
Wilson disease [RCV000672957] |
Chr13:51942445..51942448 [GRCh38]
Chr13:52516581..52516584 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) |
single nucleotide variant |
Wilson disease [RCV000672990]|not specified [RCV003489792] |
Chr13:51946360 [GRCh38]
Chr13:52520496 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001243182.1(ATP7B):c.-117delinsATCGGC |
indel |
Wilson disease [RCV000664441] |
Chr13:52011454 [GRCh38]
Chr13:52585590 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) |
single nucleotide variant |
Wilson disease [RCV000666566] |
Chr13:51960191 [GRCh38]
Chr13:52534327 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) |
single nucleotide variant |
Wilson disease [RCV000666574] |
Chr13:51958537 [GRCh38]
Chr13:52532673 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter) |
single nucleotide variant |
Wilson disease [RCV000665465] |
Chr13:51968583 [GRCh38]
Chr13:52542719 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) |
single nucleotide variant |
Wilson disease [RCV000673196]|not provided [RCV003106017] |
Chr13:51974157 [GRCh38]
Chr13:52548293 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val) |
single nucleotide variant |
Wilson disease [RCV000664605] |
Chr13:51939112 [GRCh38]
Chr13:52513248 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) |
single nucleotide variant |
Wilson disease [RCV000673283] |
Chr13:51937612 [GRCh38]
Chr13:52511748 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr) |
single nucleotide variant |
Wilson disease [RCV000666584] |
Chr13:51937326 [GRCh38]
Chr13:52511462 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) |
single nucleotide variant |
Wilson disease [RCV000665788]|not provided [RCV005054237] |
Chr13:51937595 [GRCh38]
Chr13:52511731 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg) |
single nucleotide variant |
Wilson disease [RCV000674475] |
Chr13:51941081 [GRCh38]
Chr13:52515217 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) |
single nucleotide variant |
Wilson disease [RCV000664771]|not provided [RCV004792357] |
Chr13:51937638 [GRCh38]
Chr13:52511774 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) |
single nucleotide variant |
Wilson disease [RCV000664853]|not specified [RCV003403534] |
Chr13:51957573 [GRCh38]
Chr13:52531709 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) |
single nucleotide variant |
Wilson disease [RCV000674734]|not provided [RCV004792368] |
Chr13:51950117 [GRCh38]
Chr13:52524253 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2447+2T>G |
single nucleotide variant |
Wilson disease [RCV000674966] |
Chr13:51957514 [GRCh38]
Chr13:52531650 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.433G>T (p.Val145Phe) |
single nucleotide variant |
Wilson disease [RCV000666999] |
Chr13:51974787 [GRCh38]
Chr13:52548923 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val) |
single nucleotide variant |
Wilson disease [RCV000667168] |
Chr13:51937558 [GRCh38]
Chr13:52511694 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) |
single nucleotide variant |
Wilson disease [RCV000673544]|not provided [RCV003319396] |
Chr13:51946346 [GRCh38]
Chr13:52520482 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp) |
single nucleotide variant |
Wilson disease [RCV000665012]|not provided [RCV001310694] |
Chr13:51937537 [GRCh38]
Chr13:52511673 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1700_1707+16del |
deletion |
Wilson disease [RCV000667602] |
Chr13:51968428..51968451 [GRCh38]
Chr13:52542564..52542587 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) |
single nucleotide variant |
Wilson disease [RCV000667618]|not provided [RCV003324784] |
Chr13:51974658 [GRCh38]
Chr13:52548794 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2057ACA[1] (p.Asn687del) |
microsatellite |
Wilson disease [RCV000667756] |
Chr13:51960207..51960209 [GRCh38]
Chr13:52534343..52534345 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) |
single nucleotide variant |
Wilson disease [RCV000667772] |
Chr13:51941135 [GRCh38]
Chr13:52515271 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.3(chr13:52580525-52693303)x1 |
copy number loss |
not provided [RCV000683489] |
Chr13:52580525..52693303 [GRCh37]
Chr13:13q14.3 |
likely benign |
| GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3 |
copy number gain |
not provided [RCV000683569] |
Chr13:51939350..66854666 [GRCh37]
Chr13:13q14.3-21.32 |
likely pathogenic |
| GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 |
copy number gain |
not provided [RCV000683572] |
Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1 |
pathogenic |
| NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) |
single nucleotide variant |
Wilson disease [RCV000697754] |
Chr13:51974366 [GRCh38]
Chr13:52548502 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) |
single nucleotide variant |
Wilson disease [RCV000707116]|not provided [RCV004760749] |
Chr13:51937383 [GRCh38]
Chr13:52511519 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1708-25_1719del |
deletion |
Wilson disease [RCV000694922] |
Chr13:51965022..51965058 [GRCh38]
Chr13:52539158..52539194 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.11:g.46968080_87381985del40413906 |
deletion |
Chromosome 13q14 deletion syndrome [RCV000721955] |
Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2 |
pathogenic |
| NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) |
single nucleotide variant |
Wilson disease [RCV000688551] |
Chr13:51974738 [GRCh38]
Chr13:52548874 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu) |
single nucleotide variant |
Wilson disease [RCV000703443] |
Chr13:51937582 [GRCh38]
Chr13:52511718 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.10:g.(?_52538988)_(52602746_?)dup |
duplication |
ALG11-congenital disorder of glycosylation [RCV000708392] |
Chr13:51964852..52028610 [GRCh38]
Chr13:52538988..52602746 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) |
single nucleotide variant |
Wilson disease [RCV000707143]|not specified [RCV004702364] |
Chr13:51950361 [GRCh38]
Chr13:52524497 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val) |
single nucleotide variant |
Wilson disease [RCV000699967] |
Chr13:51935615 [GRCh38]
Chr13:52509751 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1675T>C (p.Tyr559His) |
single nucleotide variant |
Wilson disease [RCV004805343] |
Chr13:51968476 [GRCh38]
Chr13:52542612 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val) |
single nucleotide variant |
Wilson disease [RCV000721965] |
Chr13:51958315 [GRCh38]
Chr13:52532451 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1543+1G>T |
single nucleotide variant |
ATP7B-related disorder [RCV003411660]|Inborn genetic diseases [RCV002397500]|Wilson disease [RCV000721966] |
Chr13:51970491 [GRCh38]
Chr13:52544627 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NC_000013.11:g.(?_51937256)_(51939213_?)del |
deletion |
Wilson disease [RCV000819229] |
Chr13:51937256..51939213 [GRCh38]
Chr13:52511392..52513349 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_001243182.1(ATP7B):c.-120_-119insCGCCG |
insertion |
Wilson disease [RCV001001815] |
Chr13:52011456..52011457 [GRCh38]
Chr13:52585592..52585593 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) |
single nucleotide variant |
Wilson disease [RCV000755712] |
Chr13:51968457 [GRCh38]
Chr13:52542593 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1771G>A (p.Gly591Ser) |
single nucleotide variant |
Wilson disease [RCV000755719] |
Chr13:51964970 [GRCh38]
Chr13:52539106 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3243+82C>T |
single nucleotide variant |
not provided [RCV001547535] |
Chr13:51944027 [GRCh38]
Chr13:52518163 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.130T>A (p.Tyr44Asn) |
single nucleotide variant |
Wilson disease [RCV000755710] |
Chr13:51975090 [GRCh38]
Chr13:52549226 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 |
copy number gain |
not provided [RCV000738115] |
Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 |
copy number gain |
not provided [RCV000750643] |
Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q14.3(chr13:52506048-52778214)x1 |
copy number loss |
not provided [RCV000750722] |
Chr13:52506048..52778214 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.283C>A (p.Gln95Lys) |
single nucleotide variant |
not provided [RCV001531803] |
Chr13:51974937 [GRCh38]
Chr13:52549073 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2730+9G>A |
single nucleotide variant |
Wilson disease [RCV001456507] |
Chr13:51949998 [GRCh38]
Chr13:52524134 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2997C>G (p.Thr999=) |
single nucleotide variant |
Inborn genetic diseases [RCV002434124]|Wilson disease [RCV000871786] |
Chr13:51946347 [GRCh38]
Chr13:52520483 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-308C>T |
single nucleotide variant |
not provided [RCV001708902] |
Chr13:51939501 [GRCh38]
Chr13:52513637 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.4022-159G>C |
single nucleotide variant |
Wilson disease [RCV001533466]|not provided [RCV001685444] |
Chr13:51935854 [GRCh38]
Chr13:52509990 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser) |
single nucleotide variant |
Wilson disease [RCV000755711] |
Chr13:51970560 [GRCh38]
Chr13:52544696 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3727G>T (p.Val1243Leu) |
single nucleotide variant |
Wilson disease [RCV001559250] |
Chr13:51937652 [GRCh38]
Chr13:52511788 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) |
single nucleotide variant |
Wilson disease [RCV000761257]|not provided [RCV002286787] |
Chr13:51941191 [GRCh38]
Chr13:52515327 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2866-2A>G |
single nucleotide variant |
Wilson disease [RCV000761418] |
Chr13:51946480 [GRCh38]
Chr13:52520616 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys) |
single nucleotide variant |
Wilson disease [RCV002533779]|not provided [RCV000755835] |
Chr13:51968556 [GRCh38]
Chr13:52542692 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.3812A>G (p.Asp1271Gly) |
single nucleotide variant |
Wilson disease [RCV003314362] |
Chr13:51937567 [GRCh38]
Chr13:52511703 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3227C>T (p.Thr1076Ile) |
single nucleotide variant |
Wilson disease [RCV003314377] |
Chr13:51944125 [GRCh38]
Chr13:52518261 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp) |
single nucleotide variant |
Wilson disease [RCV001855707]|not provided [RCV000761857] |
Chr13:51950022 [GRCh38]
Chr13:52524158 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.322T>C (p.Cys108Arg) |
single nucleotide variant |
Wilson disease [RCV000755715] |
Chr13:51974898 [GRCh38]
Chr13:52549034 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile) |
single nucleotide variant |
Wilson disease [RCV001827458]|not provided [RCV001550406] |
Chr13:51960174 [GRCh38]
Chr13:52534310 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr) |
single nucleotide variant |
Wilson disease [RCV001114539]|not provided [RCV002245862] |
Chr13:51974004 [GRCh38]
Chr13:52548140 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2447+104G>T |
single nucleotide variant |
not provided [RCV001586666] |
Chr13:51957412 [GRCh38]
Chr13:52531548 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs) |
deletion |
Wilson disease [RCV000989143] |
Chr13:51970630..51970646 [GRCh38]
Chr13:52544766..52544782 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3061-2A>G |
single nucleotide variant |
Wilson disease [RCV001046279]|not provided [RCV004597952] |
Chr13:51944293 [GRCh38]
Chr13:52518429 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val) |
single nucleotide variant |
Wilson disease [RCV001065929]|not provided [RCV004792711] |
Chr13:51937537 [GRCh38]
Chr13:52511673 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) |
single nucleotide variant |
Wilson disease [RCV001619768] |
Chr13:51937326 [GRCh38]
Chr13:52511462 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2122-158G>A |
single nucleotide variant |
not provided [RCV001545843] |
Chr13:51958702 [GRCh38]
Chr13:52532838 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2865+249G>A |
single nucleotide variant |
not provided [RCV001577152] |
Chr13:51949413 [GRCh38]
Chr13:52523549 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) |
single nucleotide variant |
Wilson disease [RCV001580636] |
Chr13:51935629 [GRCh38]
Chr13:52509765 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.432G>T (p.Val144=) |
single nucleotide variant |
Wilson disease [RCV001559286] |
Chr13:51974788 [GRCh38]
Chr13:52548924 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4125-209C>G |
single nucleotide variant |
not provided [RCV001547968] |
Chr13:51935238 [GRCh38]
Chr13:52509374 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1726G>A (p.Ala576Thr) |
single nucleotide variant |
Wilson disease [RCV001210728] |
Chr13:51965015 [GRCh38]
Chr13:52539151 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) |
single nucleotide variant |
Wilson disease [RCV000985060]|not provided [RCV004800649] |
Chr13:51958436 [GRCh38]
Chr13:52532572 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NC_000013.11:g.(?_51934736)_(52028610_?)del |
deletion |
Wilson disease [RCV001032078] |
Chr13:52508872..52602746 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3699+9C>T |
single nucleotide variant |
Wilson disease [RCV000927927] |
Chr13:51939042 [GRCh38]
Chr13:52513178 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.747G>A (p.Leu249=) |
single nucleotide variant |
Wilson disease [RCV000982754] |
Chr13:51974473 [GRCh38]
Chr13:52548609 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+8C>G |
single nucleotide variant |
Wilson disease [RCV000983729] |
Chr13:51935585 [GRCh38]
Chr13:52509721 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3618G>A (p.Val1206=) |
single nucleotide variant |
Wilson disease [RCV000864924] |
Chr13:51939132 [GRCh38]
Chr13:52513268 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.15G>A (p.Glu5=) |
single nucleotide variant |
Wilson disease [RCV000945109] |
Chr13:52011323 [GRCh38]
Chr13:52585459 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=) |
single nucleotide variant |
Inborn genetic diseases [RCV002320064]|Wilson disease [RCV000884984]|not provided [RCV004721671] |
Chr13:51942537 [GRCh38]
Chr13:52516673 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3541C>T (p.Leu1181=) |
single nucleotide variant |
Wilson disease [RCV001445798] |
Chr13:51941096 [GRCh38]
Chr13:52515232 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2202C>A (p.Val734=) |
single nucleotide variant |
Wilson disease [RCV001426630] |
Chr13:51958464 [GRCh38]
Chr13:52532600 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.549C>T (p.Ala183=) |
single nucleotide variant |
Wilson disease [RCV000864599] |
Chr13:51974671 [GRCh38]
Chr13:52548807 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) |
single nucleotide variant |
Wilson disease [RCV000936710] |
Chr13:51957527 [GRCh38]
Chr13:52531663 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2121+7A>T |
single nucleotide variant |
Wilson disease [RCV000925011] |
Chr13:51960141 [GRCh38]
Chr13:52534277 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) |
single nucleotide variant |
Wilson disease [RCV000928699] |
Chr13:51960304 [GRCh38]
Chr13:52534440 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3412+9_3412+10insCA |
insertion |
Wilson disease [RCV001439532] |
Chr13:51942376..51942377 [GRCh38]
Chr13:52516512..52516513 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.540C>T (p.Asn180=) |
single nucleotide variant |
Inborn genetic diseases [RCV002346150]|Wilson disease [RCV000946227] |
Chr13:51974680 [GRCh38]
Chr13:52548816 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_001005918.2(ATP7B):c.-116G>A |
single nucleotide variant |
not provided [RCV000755840] |
Chr13:52011453 [GRCh38]
Chr13:52585589 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.813C>T (p.Cys271=) |
single nucleotide variant |
Wilson disease [RCV000943573] |
Chr13:51974407 [GRCh38]
Chr13:52548543 [GRCh37]
Chr13:13q14.3 |
benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.879G>A (p.Glu293=) |
single nucleotide variant |
Inborn genetic diseases [RCV004029749]|Wilson disease [RCV000943899] |
Chr13:51974341 [GRCh38]
Chr13:52548477 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-8C>T |
single nucleotide variant |
Wilson disease [RCV001272284]|not provided [RCV000943066] |
Chr13:51939201 [GRCh38]
Chr13:52513337 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1015A>C (p.Arg339=) |
single nucleotide variant |
Wilson disease [RCV000983327] |
Chr13:51974205 [GRCh38]
Chr13:52548341 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4119C>G (p.Leu1373=) |
single nucleotide variant |
Wilson disease [RCV000925565] |
Chr13:51935598 [GRCh38]
Chr13:52509734 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1123C>T (p.His375Tyr) |
single nucleotide variant |
not provided [RCV004793952] |
Chr13:51974097 [GRCh38]
Chr13:52548233 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1066G>A (p.Gly356Ser) |
single nucleotide variant |
not provided [RCV000996146] |
Chr13:51974154 [GRCh38]
Chr13:52548290 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.941C>T (p.Ala314Val) |
single nucleotide variant |
Wilson disease [RCV004004434]|not provided [RCV000996147] |
Chr13:51974279 [GRCh38]
Chr13:52548415 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.814G>A (p.Val272Ile) |
single nucleotide variant |
Wilson disease [RCV001297401]|not provided [RCV000996148] |
Chr13:51974406 [GRCh38]
Chr13:52548542 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) |
single nucleotide variant |
Wilson disease [RCV001110501] |
Chr13:51974556 [GRCh38]
Chr13:52548692 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.314C>T (p.Ser105Leu) |
single nucleotide variant |
Wilson disease [RCV003074493] |
Chr13:51974906 [GRCh38]
Chr13:52549042 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.52011771C>T |
single nucleotide variant |
not provided [RCV000995068] |
Chr13:52011771 [GRCh38]
Chr13:52585907 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002551507]|Wilson disease [RCV001042128] |
Chr13:51934839 [GRCh38]
Chr13:52508975 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3061-549_3081del |
deletion |
Wilson disease [RCV001068581] |
Chr13:51944271..51944840 [GRCh38]
Chr13:52518407..52518976 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2227del (p.Tyr743fs) |
deletion |
Wilson disease [RCV001070456]|not provided [RCV001509444] |
Chr13:51958439 [GRCh38]
Chr13:52532575 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs) |
duplication |
Wilson disease [RCV001054343] |
Chr13:51939161..51939162 [GRCh38]
Chr13:52513297..52513298 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) |
single nucleotide variant |
ATP7B-related disorder [RCV004751701]|Wilson disease [RCV000871679]|not specified [RCV000779808] |
Chr13:51949668 [GRCh38]
Chr13:52523804 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1762A>C (p.Arg588=) |
single nucleotide variant |
Wilson disease [RCV001830669]|not specified [RCV000779809] |
Chr13:51964979 [GRCh38]
Chr13:52539115 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) |
single nucleotide variant |
Wilson disease [RCV001114540]|not provided [RCV003326513]|not specified [RCV000779810] |
Chr13:51974062 [GRCh38]
Chr13:52548198 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr) |
single nucleotide variant |
Wilson disease [RCV002535662]|not specified [RCV000779811] |
Chr13:51960191 [GRCh38]
Chr13:52534327 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) |
single nucleotide variant |
Wilson disease [RCV000804396]|not provided [RCV000999514]|not specified [RCV000779814] |
Chr13:51939079 [GRCh38]
Chr13:52513215 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs) |
indel |
Wilson disease [RCV000779818] |
Chr13:51942498..51942500 [GRCh38]
Chr13:52516634..52516636 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs) |
insertion |
Wilson disease [RCV000779817] |
Chr13:51942496..51942497 [GRCh38]
Chr13:52516632..52516633 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) |
single nucleotide variant |
Wilson disease [RCV000780926]|not provided [RCV002223938] |
Chr13:51958369 [GRCh38]
Chr13:52532505 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) |
single nucleotide variant |
Wilson disease [RCV000780933] |
Chr13:51970504 [GRCh38]
Chr13:52544640 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) |
indel |
Wilson disease [RCV000780937] |
Chr13:51944267..51944269 [GRCh38]
Chr13:52518403..52518405 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) |
single nucleotide variant |
Wilson disease [RCV000780939] |
Chr13:51949732 [GRCh38]
Chr13:52523868 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1869+20A>G |
single nucleotide variant |
Wilson disease [RCV002067374]|not provided [RCV004721594]|not specified [RCV000780934] |
Chr13:51964852 [GRCh38]
Chr13:52538988 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3021C>A (p.Ile1007=) |
single nucleotide variant |
Wilson disease [RCV003609169]|not specified [RCV000779815] |
Chr13:51946323 [GRCh38]
Chr13:52520459 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) |
deletion |
Wilson disease [RCV000780938]|not provided [RCV001008091] |
Chr13:51974412..51974418 [GRCh38]
Chr13:52548548..52548554 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) |
duplication |
Wilson disease [RCV000778398] |
Chr13:51934814..51934815 [GRCh38]
Chr13:52508950..52508951 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4125-1G>A |
single nucleotide variant |
Wilson disease [RCV000778399] |
Chr13:51935030 [GRCh38]
Chr13:52509166 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2447+8_2447+9insAA |
insertion |
Wilson disease [RCV000923529] |
Chr13:51957507..51957508 [GRCh38]
Chr13:52531643..52531644 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2862T>C (p.Phe954=) |
single nucleotide variant |
Wilson disease [RCV000927883]|not provided [RCV004705927] |
Chr13:51949665 [GRCh38]
Chr13:52523801 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2790C>A (p.Ile930=) |
single nucleotide variant |
Wilson disease [RCV001407394] |
Chr13:51949737 [GRCh38]
Chr13:52523873 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2325C>A (p.Ala775=) |
single nucleotide variant |
Wilson disease [RCV000922628] |
Chr13:51958341 [GRCh38]
Chr13:52532477 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3741C>T (p.His1247=) |
single nucleotide variant |
Wilson disease [RCV001498001] |
Chr13:51937638 [GRCh38]
Chr13:52511774 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=) |
single nucleotide variant |
Wilson disease [RCV001414948] |
Chr13:51937491 [GRCh38]
Chr13:52511627 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) |
single nucleotide variant |
Wilson disease [RCV001110416] |
Chr13:51958380 [GRCh38]
Chr13:52532516 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) |
single nucleotide variant |
Wilson disease [RCV000920076] |
Chr13:51939168 [GRCh38]
Chr13:52513304 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) |
single nucleotide variant |
ATP7B-related disorder [RCV003892806]|Inborn genetic diseases [RCV004027634]|Wilson disease [RCV000864911]|not provided [RCV003326498] |
Chr13:51950133 [GRCh38]
Chr13:52524269 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=) |
single nucleotide variant |
Inborn genetic diseases [RCV003169509]|Wilson disease [RCV000981262] |
Chr13:51934867 [GRCh38]
Chr13:52509003 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) |
single nucleotide variant |
Wilson disease [RCV000978270] |
Chr13:51950357 [GRCh38]
Chr13:52524493 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.990A>G (p.Gly330=) |
single nucleotide variant |
Wilson disease [RCV000979556] |
Chr13:51974230 [GRCh38]
Chr13:52548366 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) |
single nucleotide variant |
Wilson disease [RCV001088741]|not provided [RCV000921851] |
Chr13:51939126 [GRCh38]
Chr13:52513262 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4185G>A (p.Leu1395=) |
single nucleotide variant |
Wilson disease [RCV000938351] |
Chr13:51934969 [GRCh38]
Chr13:52509105 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) |
single nucleotide variant |
Wilson disease [RCV000937216]|not specified [RCV002298802] |
Chr13:51974814 [GRCh38]
Chr13:52548950 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2124C>A (p.Leu708=) |
single nucleotide variant |
Wilson disease [RCV001273299] |
Chr13:51958542 [GRCh38]
Chr13:52532678 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) |
single nucleotide variant |
Wilson disease [RCV000981036] |
Chr13:51961908 [GRCh38]
Chr13:52536044 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.46C>A (p.Arg16=) |
single nucleotide variant |
Wilson disease [RCV000932130] |
Chr13:52011292 [GRCh38]
Chr13:52585428 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2208C>A (p.Ala736=) |
single nucleotide variant |
Wilson disease [RCV001502444] |
Chr13:51958458 [GRCh38]
Chr13:52532594 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.6T>C (p.Pro2=) |
single nucleotide variant |
not provided [RCV000939837] |
Chr13:52011332 [GRCh38]
Chr13:52585468 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1023C>T (p.Ser341=) |
single nucleotide variant |
Wilson disease [RCV001443615] |
Chr13:51974197 [GRCh38]
Chr13:52548333 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) |
single nucleotide variant |
ATP7B-related disorder [RCV003960543]|Wilson disease [RCV000941191]|not provided [RCV002292595] |
Chr13:51968465 [GRCh38]
Chr13:52542601 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-6G>A |
single nucleotide variant |
Wilson disease [RCV000942404] |
Chr13:51950167 [GRCh38]
Chr13:52524303 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) |
single nucleotide variant |
Wilson disease [RCV000780927] |
Chr13:51974250 [GRCh38]
Chr13:52548386 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1965G>T (p.Leu655=) |
single nucleotide variant |
Wilson disease [RCV001413641]|not specified [RCV000780928] |
Chr13:51960304 [GRCh38]
Chr13:52534440 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) |
single nucleotide variant |
Wilson disease [RCV001830673]|not specified [RCV000780929] |
Chr13:51937630 [GRCh38]
Chr13:52511766 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) |
single nucleotide variant |
Wilson disease [RCV001277083]|not provided [RCV003480813]|not specified [RCV000780930] |
Chr13:51970737 [GRCh38]
Chr13:52544873 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) |
single nucleotide variant |
Wilson disease [RCV000943904]|not specified [RCV000780931] |
Chr13:51934903 [GRCh38]
Chr13:52509039 [GRCh37]
Chr13:13q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser) |
single nucleotide variant |
not specified [RCV000780932] |
Chr13:51942500 [GRCh38]
Chr13:52516636 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.203C>G (p.Thr68Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003311509] |
Chr13:51975017 [GRCh38]
Chr13:52549153 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.3(chr13:52535544-53362733)x3 |
copy number gain |
See cases [RCV002285117] |
Chr13:52535544..53362733 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys) |
single nucleotide variant |
not provided [RCV004792457]|not specified [RCV000779816] |
Chr13:51958482 [GRCh38]
Chr13:52532618 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) |
single nucleotide variant |
Inborn genetic diseases [RCV003166067]|Wilson disease [RCV000893487]|not provided [RCV003884725]|not specified [RCV000779820] |
Chr13:51960241 [GRCh38]
Chr13:52534377 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys) |
single nucleotide variant |
Wilson disease [RCV003314446] |
Chr13:51950103 [GRCh38]
Chr13:52524239 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3557-95A>G |
single nucleotide variant |
not provided [RCV000835601] |
Chr13:51939288 [GRCh38]
Chr13:52513424 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.4125-19T>C |
single nucleotide variant |
not provided [RCV000841313] |
Chr13:51935048 [GRCh38]
Chr13:52509184 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3556+20T>G |
single nucleotide variant |
Wilson disease [RCV001858424]|not provided [RCV000828162] |
Chr13:51941061 [GRCh38]
Chr13:52515197 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer) |
deletion |
Wilson disease [RCV000816946] |
Chr13:51958521 [GRCh38]
Chr13:52532657 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile) |
single nucleotide variant |
Wilson disease [RCV000821152] |
Chr13:51944167 [GRCh38]
Chr13:52518303 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1707+98G>A |
single nucleotide variant |
not provided [RCV000837919] |
Chr13:51968346 [GRCh38]
Chr13:52542482 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+107G>A |
single nucleotide variant |
not provided [RCV000837920] |
Chr13:51937169 [GRCh38]
Chr13:52511305 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391017]|Wilson disease [RCV000976137] |
Chr13:51970634 [GRCh38]
Chr13:52544770 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1907C>A (p.Pro636His) |
single nucleotide variant |
Wilson disease [RCV000790916] |
Chr13:51961876 [GRCh38]
Chr13:52536012 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2475G>A (p.Val825=) |
single nucleotide variant |
Wilson disease [RCV000914130]|not provided [RCV001531801] |
Chr13:51950372 [GRCh38]
Chr13:52524508 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2659G>A (p.Ala887Thr) |
single nucleotide variant |
Wilson disease [RCV000801656] |
Chr13:51950078 [GRCh38]
Chr13:52524214 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1285+287G>A |
single nucleotide variant |
not provided [RCV000840272] |
Chr13:51973648 [GRCh38]
Chr13:52547784 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1870-217A>G |
single nucleotide variant |
not provided [RCV000840273] |
Chr13:51962130 [GRCh38]
Chr13:52536266 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2356-296A>G |
single nucleotide variant |
not provided [RCV000840274] |
Chr13:51957903 [GRCh38]
Chr13:52532039 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1286-256T>C |
single nucleotide variant |
not provided [RCV000840275] |
Chr13:51971005 [GRCh38]
Chr13:52545141 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2356-217G>A |
single nucleotide variant |
not provided [RCV000840276] |
Chr13:51957824 [GRCh38]
Chr13:52531960 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2447+289G>T |
single nucleotide variant |
not provided [RCV000840277] |
Chr13:51957227 [GRCh38]
Chr13:52531363 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3412+292A>G |
single nucleotide variant |
not provided [RCV000840278] |
Chr13:51942094 [GRCh38]
Chr13:52516230 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3243+290G>A |
single nucleotide variant |
not provided [RCV000840279] |
Chr13:51943819 [GRCh38]
Chr13:52517955 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3699+299G>A |
single nucleotide variant |
not provided [RCV000840280] |
Chr13:51938752 [GRCh38]
Chr13:52512888 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.4022-329C>T |
single nucleotide variant |
not provided [RCV000840281] |
Chr13:51936024 [GRCh38]
Chr13:52510160 [GRCh37]
Chr13:13q14.3 |
benign |
| NC_000013.11:g.(?_51944089)_(51946498_?)del |
deletion |
Wilson disease [RCV000810676] |
Chr13:51944089..51946498 [GRCh38]
Chr13:52518225..52520634 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.11:g.52011745A>G |
single nucleotide variant |
not provided [RCV000835006] |
Chr13:52585881 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) |
single nucleotide variant |
Wilson disease [RCV000817111] |
Chr13:51937495 [GRCh38]
Chr13:52511631 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1946+153T>C |
single nucleotide variant |
not provided [RCV000840821] |
Chr13:51961684 [GRCh38]
Chr13:52535820 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-158G>C |
single nucleotide variant |
not provided [RCV000840822] |
Chr13:51935853 [GRCh38]
Chr13:52509989 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2979G>A (p.Thr993=) |
single nucleotide variant |
Inborn genetic diseases [RCV004962872]|Wilson disease [RCV001858422]|not provided [RCV000827402] |
Chr13:51946365 [GRCh38]
Chr13:52520501 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) |
single nucleotide variant |
Wilson disease [RCV000804208]|not provided [RCV003480839] |
Chr13:51935640 [GRCh38]
Chr13:52509776 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly) |
single nucleotide variant |
Wilson disease [RCV000820701]|not provided [RCV002225742] |
Chr13:51968523 [GRCh38]
Chr13:52542659 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3243+2T>C |
single nucleotide variant |
Wilson disease [RCV000816422]|not provided [RCV004792524] |
Chr13:51944107 [GRCh38]
Chr13:52518243 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1 |
copy number loss |
not provided [RCV000846575] |
Chr13:49586017..61311845 [GRCh37]
Chr13:13q14.2-21.2 |
uncertain significance |
| NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) |
single nucleotide variant |
Wilson disease [RCV000796453]|not provided [RCV004721608] |
Chr13:51950075 [GRCh38]
Chr13:52524211 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) |
single nucleotide variant |
Wilson disease [RCV000806274]|not provided [RCV002223947] |
Chr13:51958366 [GRCh38]
Chr13:52532502 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 13q14.3(chr13:52505074-52763413)x1 |
copy number loss |
not provided [RCV000849177] |
Chr13:52505074..52763413 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1191G>T (p.Gly397=) |
single nucleotide variant |
Wilson disease [RCV000822816] |
Chr13:51974029 [GRCh38]
Chr13:52548165 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1544-53A>C |
single nucleotide variant |
Wilson disease [RCV001517042]|not provided [RCV000835494] |
Chr13:51968660 [GRCh38]
Chr13:52542796 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2866-105G>A |
single nucleotide variant |
not provided [RCV000835495] |
Chr13:51946583 [GRCh38]
Chr13:52520719 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1286-93A>C |
single nucleotide variant |
not provided [RCV000835500] |
Chr13:51970842 [GRCh38]
Chr13:52544978 [GRCh37]
Chr13:13q14.3 |
benign |
| NC_000013.11:g.51950424C>T |
single nucleotide variant |
not provided [RCV000835501] |
Chr13:52524560 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2866-90G>T |
single nucleotide variant |
not provided [RCV000835502] |
Chr13:51946568 [GRCh38]
Chr13:52520704 [GRCh37]
Chr13:13q14.3 |
benign |
| NC_000013.11:g.51937226C>G |
single nucleotide variant |
not provided [RCV000835504] |
Chr13:52511362 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.51+110G>A |
single nucleotide variant |
Wilson disease [RCV001533481]|not provided [RCV000835876] |
Chr13:52011177 [GRCh38]
Chr13:52585313 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) |
single nucleotide variant |
ATP7B-related disorder [RCV003928277]|Wilson disease [RCV000804503]|not provided [RCV001508351] |
Chr13:51974022 [GRCh38]
Chr13:52548158 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2122-3C>T |
single nucleotide variant |
Wilson disease [RCV000797318]|not specified [RCV001193093] |
Chr13:51958547 [GRCh38]
Chr13:52532683 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1155A>C (p.Glu385Asp) |
single nucleotide variant |
Wilson disease [RCV000821118] |
Chr13:51974065 [GRCh38]
Chr13:52548201 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) |
deletion |
Wilson disease [RCV000821119] |
Chr13:51974061..51974062 [GRCh38]
Chr13:52548197..52548198 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1286-92A>G |
single nucleotide variant |
not provided [RCV000836409] |
Chr13:51970841 [GRCh38]
Chr13:52544977 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) |
single nucleotide variant |
Wilson disease [RCV000824312]|not provided [RCV003480876] |
Chr13:51935695 [GRCh38]
Chr13:52509831 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002332682]|Wilson disease [RCV000814713] |
Chr13:51934836 [GRCh38]
Chr13:52508972 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) |
single nucleotide variant |
Wilson disease [RCV000811070]|not provided [RCV003480854]|not specified [RCV003155318] |
Chr13:51944213 [GRCh38]
Chr13:52518349 [GRCh37]
Chr13:13q14.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met) |
single nucleotide variant |
Wilson disease [RCV000805564] |
Chr13:51949740 [GRCh38]
Chr13:52523876 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3243+173_3243+175del |
deletion |
not provided [RCV000840757] |
Chr13:51943934..51943936 [GRCh38]
Chr13:52518070..52518072 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2366C>T (p.Ser789Leu) |
single nucleotide variant |
Wilson disease [RCV001114448] |
Chr13:51957597 [GRCh38]
Chr13:52531733 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.918_931del (p.Ser307fs) |
deletion |
Wilson disease [RCV001067570] |
Chr13:51974289..51974302 [GRCh38]
Chr13:52548425..52548438 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly) |
single nucleotide variant |
Wilson disease [RCV000821383] |
Chr13:51934775 [GRCh38]
Chr13:52508911 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu) |
single nucleotide variant |
Wilson disease [RCV000790982] |
Chr13:51950036 [GRCh38]
Chr13:52524172 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) |
single nucleotide variant |
Wilson disease [RCV000810166]|not provided [RCV001731938] |
Chr13:51934939 [GRCh38]
Chr13:52509075 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4124+278T>A |
single nucleotide variant |
not provided [RCV000833421] |
Chr13:51935315 [GRCh38]
Chr13:52509451 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) |
single nucleotide variant |
Wilson disease [RCV001089262]|not provided [RCV000830855] |
Chr13:51944229 [GRCh38]
Chr13:52518365 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.550G>A (p.Val184Ile) |
single nucleotide variant |
Wilson disease [RCV000815518] |
Chr13:51974670 [GRCh38]
Chr13:52548806 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.213_214del (p.Val73fs) |
deletion |
Wilson disease [RCV000802352] |
Chr13:51975006..51975007 [GRCh38]
Chr13:52549142..52549143 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3243+183_3243+184insGCC |
insertion |
not provided [RCV000840758] |
Chr13:51943925..51943926 [GRCh38]
Chr13:52518061..52518062 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val) |
single nucleotide variant |
Wilson disease [RCV000822452] |
Chr13:51958328 [GRCh38]
Chr13:52532464 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2730+10A>G |
single nucleotide variant |
Wilson disease [RCV000981166] |
Chr13:51949997 [GRCh38]
Chr13:52524133 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1707+2dup |
duplication |
Wilson disease [RCV000804210] |
Chr13:51968441..51968442 [GRCh38]
Chr13:52542577..52542578 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His) |
single nucleotide variant |
Wilson disease [RCV000817129] |
Chr13:51944273 [GRCh38]
Chr13:52518409 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2622G>A (p.Ala874=) |
single nucleotide variant |
Wilson disease [RCV000803967] |
Chr13:51950115 [GRCh38]
Chr13:52524251 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2314G>A (p.Val772Met) |
single nucleotide variant |
Wilson disease [RCV000814213] |
Chr13:51958352 [GRCh38]
Chr13:52532488 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2510dup (p.Phe839fs) |
duplication |
Wilson disease [RCV000820769] |
Chr13:51950336..51950337 [GRCh38]
Chr13:52524472..52524473 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4111C>T (p.Leu1371=) |
single nucleotide variant |
Wilson disease [RCV001442184] |
Chr13:51935606 [GRCh38]
Chr13:52509742 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu) |
single nucleotide variant |
ATP7B-related disorder [RCV004751872]|See cases [RCV002252312]|Wilson disease [RCV001067666] |
Chr13:51974171 [GRCh38]
Chr13:52548307 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2009A>G (p.Tyr670Cys) |
single nucleotide variant |
Wilson disease [RCV001862704] |
Chr13:51960260 [GRCh38]
Chr13:52534396 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1128G>A |
single nucleotide variant |
Wilson disease [RCV001114178] |
Chr13:51933628 [GRCh38]
Chr13:52507764 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*149G>A |
single nucleotide variant |
Wilson disease [RCV001114257] |
Chr13:51934607 [GRCh38]
Chr13:52508743 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1115C>T (p.Ser372Phe) |
single nucleotide variant |
Wilson disease [RCV001114541] |
Chr13:51974105 [GRCh38]
Chr13:52548241 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.3(chr13:52538548-53354011)x3 |
copy number gain |
not provided [RCV000847753] |
Chr13:52538548..53354011 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.(?_52011277)_(52029658_?)del |
deletion |
Wilson disease [RCV001032804] |
Chr13:52585413..52603794 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 |
copy number loss |
not provided [RCV001006564] |
Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2985C>T (p.Val995=) |
single nucleotide variant |
Wilson disease [RCV001415815] |
Chr13:51946359 [GRCh38]
Chr13:52520495 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) |
single nucleotide variant |
ATP7B-related disorder [RCV004731102]|Wilson disease [RCV001214086]|not specified [RCV002241208] |
Chr13:51944243 [GRCh38]
Chr13:52518379 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu) |
single nucleotide variant |
Wilson disease [RCV001067105]|not provided [RCV005054323] |
Chr13:51950335 [GRCh38]
Chr13:52524471 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.697_698del (p.Lys233fs) |
deletion |
Wilson disease [RCV003769418]|not provided [RCV001009278] |
Chr13:51974522..51974523 [GRCh38]
Chr13:52548658..52548659 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) |
single nucleotide variant |
Wilson disease [RCV001174890] |
Chr13:51974821 [GRCh38]
Chr13:52548957 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Ala1231_Thr1232insLeuValHisTer) |
indel |
Wilson disease [RCV001174942] |
Chr13:51939057 [GRCh38]
Chr13:52513193 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2763T>C (p.Ser921=) |
single nucleotide variant |
Wilson disease [RCV001113062] |
Chr13:51949764 [GRCh38]
Chr13:52523900 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1708-3C>G |
single nucleotide variant |
Wilson disease [RCV001001251] |
Chr13:51965036 [GRCh38]
Chr13:52539172 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1318A>G (p.Ser440Gly) |
single nucleotide variant |
Wilson disease [RCV001113171] |
Chr13:51970717 [GRCh38]
Chr13:52544853 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs) |
duplication |
Wilson disease [RCV001174602] |
Chr13:51946346..51946347 [GRCh38]
Chr13:52520482..52520483 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2375T>C (p.Leu792Pro) |
single nucleotide variant |
Wilson disease [RCV001002078] |
Chr13:51957588 [GRCh38]
Chr13:52531724 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.*767T>A |
single nucleotide variant |
Wilson disease [RCV001112900] |
Chr13:51933989 [GRCh38]
Chr13:52508125 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.399del (p.Trp133fs) |
deletion |
not provided [RCV001008248] |
Chr13:51974821 [GRCh38]
Chr13:52548957 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV000849129] |
Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg) |
single nucleotide variant |
Wilson disease [RCV001236933] |
Chr13:51946315 [GRCh38]
Chr13:52520451 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=) |
single nucleotide variant |
Wilson disease [RCV001240794] |
Chr13:51944163 [GRCh38]
Chr13:52518299 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) |
duplication |
Wilson disease [RCV001231852]|not provided [RCV003222267] |
Chr13:51937535..51937536 [GRCh38]
Chr13:52511671..52511672 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1127C>T (p.Ser376Phe) |
single nucleotide variant |
Wilson disease [RCV001243246] |
Chr13:51974093 [GRCh38]
Chr13:52548229 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2792T>C (p.Met931Thr) |
single nucleotide variant |
Wilson disease [RCV001211041] |
Chr13:51949735 [GRCh38]
Chr13:52523871 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr) |
single nucleotide variant |
Wilson disease [RCV001240008]|not provided [RCV003317463] |
Chr13:51970512 [GRCh38]
Chr13:52544648 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) |
single nucleotide variant |
Wilson disease [RCV001242208]|not provided [RCV002261322] |
Chr13:51974717 [GRCh38]
Chr13:52548853 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2426del (p.Gly809fs) |
deletion |
Wilson disease [RCV001221671] |
Chr13:51957537 [GRCh38]
Chr13:52531673 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.241T>A (p.Ser81Thr) |
single nucleotide variant |
Wilson disease [RCV001238407] |
Chr13:51974979 [GRCh38]
Chr13:52549115 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) |
single nucleotide variant |
Wilson disease [RCV001232496]|not provided [RCV003317461] |
Chr13:51941105 [GRCh38]
Chr13:52515241 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2175G>T (p.Arg725Ser) |
single nucleotide variant |
Wilson disease [RCV001207478] |
Chr13:51958491 [GRCh38]
Chr13:52532627 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3060+5G>T |
single nucleotide variant |
Wilson disease [RCV001207532] |
Chr13:51946279 [GRCh38]
Chr13:52520415 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.532_535del (p.Leu178fs) |
microsatellite |
Wilson disease [RCV001199062] |
Chr13:51974685..51974688 [GRCh38]
Chr13:52548821..52548824 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser) |
single nucleotide variant |
Wilson disease [RCV001242407] |
Chr13:51970684 [GRCh38]
Chr13:52544820 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) |
single nucleotide variant |
Wilson disease [RCV001205588]|not provided [RCV002275307] |
Chr13:51957600 [GRCh38]
Chr13:52531736 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.703_705del (p.Pro235del) |
deletion |
Anhaptoglobinemia [RCV003313017] |
Chr13:51974515..51974517 [GRCh38]
Chr13:52548651..52548653 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3002T>G (p.Val1001Gly) |
single nucleotide variant |
not provided [RCV003312268] |
Chr13:51946342 [GRCh38]
Chr13:52520478 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3896T>C (p.Leu1299Pro) |
single nucleotide variant |
not provided [RCV003312267] |
Chr13:51937483 [GRCh38]
Chr13:52511619 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) |
single nucleotide variant |
Wilson disease [RCV000989142] |
Chr13:51937492 [GRCh38]
Chr13:52511628 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2489T>G (p.Ile830Ser) |
single nucleotide variant |
not provided [RCV000996139] |
Chr13:51950358 [GRCh38]
Chr13:52524494 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2448-4G>T |
single nucleotide variant |
Wilson disease [RCV002550688]|not provided [RCV000996140]|not specified [RCV001779100] |
Chr13:51950403 [GRCh38]
Chr13:52524539 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2394C>G (p.Leu798=) |
single nucleotide variant |
Wilson disease [RCV002068723]|not provided [RCV000996141] |
Chr13:51957569 [GRCh38]
Chr13:52531705 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) |
single nucleotide variant |
Wilson disease [RCV001111162]|not provided [RCV000996142]|not specified [RCV001193095] |
Chr13:51968596 [GRCh38]
Chr13:52542732 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1315C>T (p.His439Tyr) |
single nucleotide variant |
not provided [RCV000996143] |
Chr13:51970720 [GRCh38]
Chr13:52544856 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.925G>C (p.Val309Leu) |
single nucleotide variant |
Wilson disease [RCV001110500] |
Chr13:51974295 [GRCh38]
Chr13:52548431 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys) |
single nucleotide variant |
Wilson disease [RCV001879745]|not specified [RCV001248953] |
Chr13:51934883 [GRCh38]
Chr13:52509019 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*843C>T |
single nucleotide variant |
Wilson disease [RCV001110905] |
Chr13:51933913 [GRCh38]
Chr13:52508049 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*833A>T |
single nucleotide variant |
Wilson disease [RCV001110906] |
Chr13:51933923 [GRCh38]
Chr13:52508059 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) |
single nucleotide variant |
Wilson disease [RCV001110986]|not provided [RCV001552816] |
Chr13:51937520 [GRCh38]
Chr13:52511656 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2997C>T (p.Thr999=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436707]|Wilson disease [RCV001111073] |
Chr13:51946347 [GRCh38]
Chr13:52520483 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1544-12T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002402502]|Wilson disease [RCV001111163]|not provided [RCV001593272] |
Chr13:51968619 [GRCh38]
Chr13:52542755 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln) |
single nucleotide variant |
Wilson disease [RCV001247662] |
Chr13:51949771 [GRCh38]
Chr13:52523907 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr) |
single nucleotide variant |
Wilson disease [RCV001068702]|not provided [RCV002254330] |
Chr13:51946420 [GRCh38]
Chr13:52520556 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) |
single nucleotide variant |
Wilson disease [RCV001193692] |
Chr13:51935605 [GRCh38]
Chr13:52509741 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile) |
single nucleotide variant |
Wilson disease [RCV001068862]|not provided [RCV004693577] |
Chr13:51939055 [GRCh38]
Chr13:52513191 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1019A>G |
single nucleotide variant |
Wilson disease [RCV001110150] |
Chr13:51933737 [GRCh38]
Chr13:52507873 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg) |
single nucleotide variant |
Wilson disease [RCV001110238]|not provided [RCV004792727] |
Chr13:51934988 [GRCh38]
Chr13:52509124 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=) |
single nucleotide variant |
Wilson disease [RCV001110331] |
Chr13:51944201 [GRCh38]
Chr13:52518337 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=) |
single nucleotide variant |
Inborn genetic diseases [RCV004032154]|Wilson disease [RCV001110332] |
Chr13:51944238 [GRCh38]
Chr13:52518374 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs) |
duplication |
Wilson disease [RCV003230978] |
Chr13:51937542..51937543 [GRCh38]
Chr13:52511678..52511679 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2747T>C (p.Leu916Pro) |
single nucleotide variant |
Wilson disease [RCV004698953] |
Chr13:51949780 [GRCh38]
Chr13:52523916 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2410A>G (p.Thr804Ala) |
single nucleotide variant |
not provided [RCV004777091] |
Chr13:51957553 [GRCh38]
Chr13:52531689 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1151T>G (p.Leu384Arg) |
single nucleotide variant |
not provided [RCV004786048] |
Chr13:51974069 [GRCh38]
Chr13:52548205 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4389G>A (p.Gln1463=) |
single nucleotide variant |
Wilson disease [RCV003105131] |
Chr13:51934765 [GRCh38]
Chr13:52508901 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3090C>T (p.Gly1030=) |
single nucleotide variant |
Wilson disease [RCV003104823] |
Chr13:51944262 [GRCh38]
Chr13:52518398 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys) |
single nucleotide variant |
Wilson disease [RCV003104835] |
Chr13:51941203 [GRCh38]
Chr13:52515339 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1839C>G (p.Ile613Met) |
single nucleotide variant |
Wilson disease [RCV003107286] |
Chr13:51964902 [GRCh38]
Chr13:52539038 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4192T>A (p.Ser1398Thr) |
single nucleotide variant |
Wilson disease [RCV001559288] |
Chr13:51934962 [GRCh38]
Chr13:52509098 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1946+92G>A |
single nucleotide variant |
not provided [RCV001570440] |
Chr13:51961745 [GRCh38]
Chr13:52535881 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2122-284del |
deletion |
not provided [RCV001567040] |
Chr13:51958828 [GRCh38]
Chr13:52532964 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1544-142A>G |
single nucleotide variant |
not provided [RCV001547678] |
Chr13:51968749 [GRCh38]
Chr13:52542885 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2731-67A>G |
single nucleotide variant |
not specified [RCV004700054] |
Chr13:51949863 [GRCh38]
Chr13:52523999 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2233C>G (p.Leu745Val) |
single nucleotide variant |
Wilson disease [RCV004805180] |
Chr13:51958433 [GRCh38]
Chr13:52532569 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2192T>G (p.Val731Gly) |
single nucleotide variant |
Wilson disease [RCV004805186] |
Chr13:51958474 [GRCh38]
Chr13:52532610 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2173A>T (p.Arg725Trp) |
single nucleotide variant |
Wilson disease [RCV004805196] |
Chr13:51958493 [GRCh38]
Chr13:52532629 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2064C>A (p.Ile688=) |
single nucleotide variant |
Wilson disease [RCV004805233] |
Chr13:51960205 [GRCh38]
Chr13:52534341 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1636A>G (p.Ile546Val) |
single nucleotide variant |
Wilson disease [RCV004805356] |
Chr13:51968515 [GRCh38]
Chr13:52542651 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3413-231C>T |
single nucleotide variant |
not provided [RCV001555882] |
Chr13:51941455 [GRCh38]
Chr13:52515591 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.589C>T (p.Leu197Phe) |
single nucleotide variant |
Wilson disease [RCV001832781]|not provided [RCV001569255] |
Chr13:51974631 [GRCh38]
Chr13:52548767 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3557-316A>G |
single nucleotide variant |
not provided [RCV001550916] |
Chr13:51939509 [GRCh38]
Chr13:52513645 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2121+127C>A |
single nucleotide variant |
not provided [RCV001592103] |
Chr13:51960021 [GRCh38]
Chr13:52534157 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4125-70A>G |
single nucleotide variant |
not provided [RCV001562621] |
Chr13:51935099 [GRCh38]
Chr13:52509235 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.52-306C>T |
single nucleotide variant |
not provided [RCV001656556] |
Chr13:51975474 [GRCh38]
Chr13:52549610 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3556+254A>G |
single nucleotide variant |
not provided [RCV001557859] |
Chr13:51940827 [GRCh38]
Chr13:52514963 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3060+291A>T |
single nucleotide variant |
not provided [RCV001558102] |
Chr13:51945993 [GRCh38]
Chr13:52520129 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2355+89A>G |
single nucleotide variant |
not provided [RCV001563339] |
Chr13:51958222 [GRCh38]
Chr13:52532358 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1544-263_1544-257del |
deletion |
not provided [RCV001587803] |
Chr13:51968864..51968870 [GRCh38]
Chr13:52543000..52543006 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2448-145G>A |
single nucleotide variant |
not provided [RCV001559064] |
Chr13:51950544 [GRCh38]
Chr13:52524680 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+136del |
deletion |
not provided [RCV001676788] |
Chr13:51937140 [GRCh38]
Chr13:52511276 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2551A>G (p.Met851Val) |
single nucleotide variant |
Wilson disease [RCV001580634]|not provided [RCV003481123] |
Chr13:51950296 [GRCh38]
Chr13:52524432 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002573264]|Wilson disease [RCV001580635] |
Chr13:51937369 [GRCh38]
Chr13:52511505 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3752del (p.Lys1251fs) |
deletion |
Wilson disease [RCV001580637] |
Chr13:51937627 [GRCh38]
Chr13:52511763 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr) |
single nucleotide variant |
Wilson disease [RCV001532934]|not provided [RCV003481119] |
Chr13:51960161 [GRCh38]
Chr13:52534297 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3696C>T (p.Thr1232=) |
single nucleotide variant |
not provided [RCV000933542] |
Chr13:51939054 [GRCh38]
Chr13:52513190 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) |
single nucleotide variant |
Wilson disease [RCV000941018]|not provided [RCV001172065] |
Chr13:51964911 [GRCh38]
Chr13:52539047 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) |
single nucleotide variant |
Inborn genetic diseases [RCV002372594]|Wilson disease [RCV001272283] |
Chr13:51935682 [GRCh38]
Chr13:52509818 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1548T>C (p.Val516=) |
single nucleotide variant |
Wilson disease [RCV001413159] |
Chr13:51968603 [GRCh38]
Chr13:52542739 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1173G>A (p.Ser391=) |
single nucleotide variant |
ATP7B-related disorder [RCV003983281]|Wilson disease [RCV000931741] |
Chr13:51974047 [GRCh38]
Chr13:52548183 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3904-9C>T |
single nucleotide variant |
Wilson disease [RCV001451266] |
Chr13:51937402 [GRCh38]
Chr13:52511538 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.142C>T (p.Leu48=) |
single nucleotide variant |
Wilson disease [RCV001418468] |
Chr13:51975078 [GRCh38]
Chr13:52549214 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu) |
single nucleotide variant |
Wilson disease [RCV000936870]|not provided [RCV004726738] |
Chr13:51970660 [GRCh38]
Chr13:52544796 [GRCh37]
Chr13:13q14.3 |
benign|uncertain significance |
| NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) |
single nucleotide variant |
Wilson disease [RCV000917746] |
Chr13:51935607 [GRCh38]
Chr13:52509743 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1883A>G (p.His628Arg) |
single nucleotide variant |
Wilson disease [RCV000941653] |
Chr13:51961900 [GRCh38]
Chr13:52536036 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3057C>T (p.His1019=) |
single nucleotide variant |
Wilson disease [RCV000979044] |
Chr13:51946287 [GRCh38]
Chr13:52520423 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1944G>A (p.Lys648=) |
single nucleotide variant |
Wilson disease [RCV001413606] |
Chr13:51961839 [GRCh38]
Chr13:52535975 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.781C>T (p.Leu261=) |
single nucleotide variant |
Wilson disease [RCV000981374] |
Chr13:51974439 [GRCh38]
Chr13:52548575 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.993C>T (p.Ala331=) |
single nucleotide variant |
Inborn genetic diseases [RCV002382150]|Wilson disease [RCV000940251] |
Chr13:51974227 [GRCh38]
Chr13:52548363 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) |
single nucleotide variant |
Wilson disease [RCV001111074]|not provided [RCV000886986] |
Chr13:51946350 [GRCh38]
Chr13:52520486 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) |
single nucleotide variant |
ATP7B-related disorder [RCV003968062]|Wilson disease [RCV000887015]|not provided [RCV001585856] |
Chr13:51974778 [GRCh38]
Chr13:52548914 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.618T>C (p.Phe206=) |
single nucleotide variant |
Wilson disease [RCV001443539]|not specified [RCV002307641] |
Chr13:51974602 [GRCh38]
Chr13:52548738 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2679C>T (p.Asp893=) |
single nucleotide variant |
Inborn genetic diseases [RCV002434241]|Wilson disease [RCV001437749] |
Chr13:51950058 [GRCh38]
Chr13:52524194 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) |
single nucleotide variant |
Wilson disease [RCV001001455]|not provided [RCV001172064] |
Chr13:51958521 [GRCh38]
Chr13:52532657 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr) |
single nucleotide variant |
Wilson disease [RCV001070868]|not specified [RCV002271618] |
Chr13:51974025 [GRCh38]
Chr13:52548161 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer) |
indel |
Wilson disease [RCV001175530] |
Chr13:51939053..51939057 [GRCh38]
Chr13:52513189..52513193 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1813dup (p.Leu605fs) |
duplication |
Wilson disease [RCV001229956] |
Chr13:51964927..51964928 [GRCh38]
Chr13:52539063..52539064 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val) |
single nucleotide variant |
Wilson disease [RCV001242516] |
Chr13:51934820 [GRCh38]
Chr13:52508956 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del) |
deletion |
Wilson disease [RCV001244774] |
Chr13:51942476..51942478 [GRCh38]
Chr13:52516612..52516614 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1240T>G |
single nucleotide variant |
Wilson disease [RCV001114175] |
Chr13:51933516 [GRCh38]
Chr13:52507652 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1170C>G |
single nucleotide variant |
Wilson disease [RCV001114177] |
Chr13:51933586 [GRCh38]
Chr13:52507722 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr) |
single nucleotide variant |
ATP7B-related disorder [RCV004751936]|Wilson disease [RCV001242976] |
Chr13:51964879 [GRCh38]
Chr13:52539015 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.623C>T (p.Ala208Val) |
single nucleotide variant |
Wilson disease [RCV001244901] |
Chr13:51974597 [GRCh38]
Chr13:52548733 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1423T>C |
single nucleotide variant |
Wilson disease [RCV001112823] |
Chr13:51933333 [GRCh38]
Chr13:52507469 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1286G>A |
single nucleotide variant |
Wilson disease [RCV001112824] |
Chr13:51933470 [GRCh38]
Chr13:52507606 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1298C>T (p.Thr433Ile) |
single nucleotide variant |
Wilson disease [RCV001113172] |
Chr13:51970737 [GRCh38]
Chr13:52544873 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1945C>T (p.Gln649Ter) |
single nucleotide variant |
Wilson disease [RCV001205711] |
Chr13:51961838 [GRCh38]
Chr13:52535974 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) |
single nucleotide variant |
Wilson disease [RCV001286029]|not provided [RCV004792780]|not specified [RCV001193695] |
Chr13:51950289 [GRCh38]
Chr13:52524425 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser) |
single nucleotide variant |
Wilson disease [RCV001220850]|not provided [RCV004590237] |
Chr13:51944264 [GRCh38]
Chr13:52518400 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.3101dup (p.His1034fs) |
duplication |
Wilson disease [RCV001209641] |
Chr13:51944250..51944251 [GRCh38]
Chr13:52518386..52518387 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln) |
single nucleotide variant |
Wilson disease [RCV001244058] |
Chr13:51934835 [GRCh38]
Chr13:52508971 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.265A>G (p.Met89Val) |
single nucleotide variant |
Wilson disease [RCV001247126] |
Chr13:51974955 [GRCh38]
Chr13:52549091 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4125-1G>C |
single nucleotide variant |
Wilson disease [RCV001193092] |
Chr13:51935030 [GRCh38]
Chr13:52509166 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro) |
single nucleotide variant |
Wilson disease [RCV001221684] |
Chr13:51937517 [GRCh38]
Chr13:52511653 [GRCh37]
Chr13:13q14.3 |
pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.2013G>T (p.Met671Ile) |
single nucleotide variant |
Wilson disease [RCV004805260] |
Chr13:51960256 [GRCh38]
Chr13:52534392 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1606G>T (p.Val536Phe) |
single nucleotide variant |
Wilson disease [RCV004805362] |
Chr13:51968545 [GRCh38]
Chr13:52542681 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2112C>G (p.Thr704=) |
single nucleotide variant |
Wilson disease [RCV004805218] |
Chr13:51960157 [GRCh38]
Chr13:52534293 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1345A>G (p.Thr449Ala) |
single nucleotide variant |
Wilson disease [RCV004805429] |
Chr13:51970690 [GRCh38]
Chr13:52544826 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1304C>T (p.Pro435Leu) |
single nucleotide variant |
Wilson disease [RCV004805434] |
Chr13:51970731 [GRCh38]
Chr13:52544867 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1887T>G (p.Ala629=) |
single nucleotide variant |
Wilson disease [RCV001492630] |
Chr13:51961896 [GRCh38]
Chr13:52536032 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1396C>A (p.Leu466Ile) |
single nucleotide variant |
Wilson disease [RCV004805416] |
Chr13:51970639 [GRCh38]
Chr13:52544775 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1138A>G (p.Met380Val) |
single nucleotide variant |
Wilson disease [RCV004805485] |
Chr13:51974082 [GRCh38]
Chr13:52548218 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1035C>T (p.Ser345=) |
single nucleotide variant |
Wilson disease [RCV004805496] |
Chr13:51974185 [GRCh38]
Chr13:52548321 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1109G>A (p.Cys370Tyr) |
single nucleotide variant |
Wilson disease [RCV004805489] |
Chr13:51974111 [GRCh38]
Chr13:52548247 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1707+10G>A |
single nucleotide variant |
Wilson disease [RCV001454220] |
Chr13:51968434 [GRCh38]
Chr13:52542570 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2135G>T (p.Trp712Leu) |
single nucleotide variant |
Wilson disease [RCV004805202] |
Chr13:51958531 [GRCh38]
Chr13:52532667 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1705A>T (p.Thr569Ser) |
single nucleotide variant |
Wilson disease [RCV004805333] |
Chr13:51968446 [GRCh38]
Chr13:52542582 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.901T>C (p.Tyr301His) |
single nucleotide variant |
Wilson disease [RCV004802441] |
Chr13:51974319 [GRCh38]
Chr13:52548455 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1478A>G (p.Gln493Arg) |
single nucleotide variant |
Wilson disease [RCV004805403] |
Chr13:51970557 [GRCh38]
Chr13:52544693 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.997G>A (p.Gly333Arg) |
single nucleotide variant |
Wilson disease [RCV004805506] |
Chr13:51974223 [GRCh38]
Chr13:52548359 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4370del (p.Asn1457fs) |
deletion |
Wilson disease [RCV004806960] |
Chr13:51934784 [GRCh38]
Chr13:52508920 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.637A>G (p.Lys213Glu) |
single nucleotide variant |
Wilson disease [RCV004802482] |
Chr13:51974583 [GRCh38]
Chr13:52548719 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.154G>A (p.Gly52Ser) |
single nucleotide variant |
Wilson disease [RCV004802568] |
Chr13:51975066 [GRCh38]
Chr13:52549202 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2613T>G (p.Thr871=) |
single nucleotide variant |
Wilson disease [RCV001461316] |
Chr13:51950124 [GRCh38]
Chr13:52524260 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys) |
single nucleotide variant |
Wilson disease [RCV002470334] |
Chr13:51974984 [GRCh38]
Chr13:52549120 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2448-208G>A |
single nucleotide variant |
not provided [RCV001557516] |
Chr13:51950607 [GRCh38]
Chr13:52524743 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg) |
single nucleotide variant |
Wilson disease [RCV000989141] |
Chr13:51934766 [GRCh38]
Chr13:52508902 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1544-304C>T |
single nucleotide variant |
not provided [RCV001558316] |
Chr13:51968911 [GRCh38]
Chr13:52543047 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2207C>T (p.Ala736Val) |
single nucleotide variant |
not specified [RCV003230966] |
Chr13:51958459 [GRCh38]
Chr13:52532595 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile) |
single nucleotide variant |
Wilson disease [RCV004009684]|not specified [RCV003230974] |
Chr13:51934877 [GRCh38]
Chr13:52509013 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr) |
single nucleotide variant |
Wilson disease [RCV003094178]|not provided [RCV002254510] |
Chr13:51958367 [GRCh38]
Chr13:52532503 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.2735C>A (p.Pro912His) |
single nucleotide variant |
Wilson disease [RCV001559289] |
Chr13:51949792 [GRCh38]
Chr13:52523928 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.419C>T (p.Ala140Val) |
single nucleotide variant |
not provided [RCV002464793] |
Chr13:51974801 [GRCh38]
Chr13:52548937 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1865T>C (p.Ile622Thr) |
single nucleotide variant |
Wilson disease [RCV003106571] |
Chr13:51964876 [GRCh38]
Chr13:52539012 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1259T>C (p.Met420Thr) |
single nucleotide variant |
Wilson disease [RCV004805454] |
Chr13:51973961 [GRCh38]
Chr13:52548097 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1357C>G (p.Pro453Ala) |
single nucleotide variant |
Wilson disease [RCV004805426] |
Chr13:51970678 [GRCh38]
Chr13:52544814 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1021T>C (p.Ser341Pro) |
single nucleotide variant |
Wilson disease [RCV004805498] |
Chr13:51974199 [GRCh38]
Chr13:52548335 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.917C>G (p.Thr306Ser) |
single nucleotide variant |
Wilson disease [RCV004805514] |
Chr13:51974303 [GRCh38]
Chr13:52548439 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala) |
single nucleotide variant |
Wilson disease [RCV001066306] |
Chr13:51970738 [GRCh38]
Chr13:52544874 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4021+122dup |
duplication |
not provided [RCV001586877] |
Chr13:51937139..51937140 [GRCh38]
Chr13:52511275..52511276 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3244-219A>G |
single nucleotide variant |
not provided [RCV001715815] |
Chr13:51942773 [GRCh38]
Chr13:52516909 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3243+179A>C |
single nucleotide variant |
not provided [RCV001674724] |
Chr13:51943930 [GRCh38]
Chr13:52518066 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.*1773C>G |
single nucleotide variant |
Wilson disease [RCV001110067] |
Chr13:51932983 [GRCh38]
Chr13:52507119 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val) |
single nucleotide variant |
Wilson disease [RCV001001003] |
Chr13:51941164 [GRCh38]
Chr13:52515300 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.525del (p.Val176fs) |
deletion |
Wilson disease [RCV001193693] |
Chr13:51974695 [GRCh38]
Chr13:52548831 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser) |
single nucleotide variant |
Wilson disease [RCV001833746]|not specified [RCV001193694] |
Chr13:51949669 [GRCh38]
Chr13:52523805 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter) |
single nucleotide variant |
Wilson disease [RCV001071453]|not provided [RCV001509441] |
Chr13:51950045 [GRCh38]
Chr13:52524181 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer) |
deletion |
Wilson disease [RCV001036016] |
Chr13:51958509 [GRCh38]
Chr13:52532645 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.*668C>A |
single nucleotide variant |
Wilson disease [RCV001112901] |
Chr13:51934088 [GRCh38]
Chr13:52508224 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*355G>A |
single nucleotide variant |
Wilson disease [RCV001112902] |
Chr13:51934401 [GRCh38]
Chr13:52508537 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2666A>G (p.His889Arg) |
single nucleotide variant |
Wilson disease [RCV001113063] |
Chr13:51950071 [GRCh38]
Chr13:52524207 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2667C>T (p.His889=) |
single nucleotide variant |
Wilson disease [RCV002068747] |
Chr13:51950070 [GRCh38]
Chr13:52524206 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser) |
single nucleotide variant |
Wilson disease [RCV001833741]|not specified [RCV001193091] |
Chr13:51939113 [GRCh38]
Chr13:52513249 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2781del (p.Phe927fs) |
deletion |
Wilson disease [RCV001050631] |
Chr13:51949746 [GRCh38]
Chr13:52523882 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3974del (p.Leu1325fs) |
deletion |
Wilson disease [RCV001067199] |
Chr13:51937323 [GRCh38]
Chr13:52511459 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1947-5T>C |
single nucleotide variant |
not specified [RCV001193696] |
Chr13:51960327 [GRCh38]
Chr13:52534463 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter) |
single nucleotide variant |
Wilson disease [RCV001067645] |
Chr13:51958443 [GRCh38]
Chr13:52532579 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.11:g.(?_51973925)_(51975178_?)del |
deletion |
Wilson disease [RCV001033087] |
Chr13:52548061..52549314 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile) |
single nucleotide variant |
ATP7B-related disorder [RCV003898074]|Wilson disease [RCV001068015] |
Chr13:51974116 [GRCh38]
Chr13:52548252 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1104C>A |
single nucleotide variant |
Wilson disease [RCV001110149] |
Chr13:51933652 [GRCh38]
Chr13:52507788 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) |
single nucleotide variant |
ATP7B-related disorder [RCV003938458]|Inborn genetic diseases [RCV004032153]|Wilson disease [RCV001110330]|not provided [RCV004693663]|not specified [RCV002282457] |
Chr13:51942466 [GRCh38]
Chr13:52516602 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3895del (p.Ile1300fs) |
deletion |
Wilson disease [RCV001174880] |
Chr13:51937484 [GRCh38]
Chr13:52511620 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2236G>A (p.Val746Ile) |
single nucleotide variant |
Wilson disease [RCV001110417] |
Chr13:51958430 [GRCh38]
Chr13:52532566 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.609C>T (p.Asp203=) |
single nucleotide variant |
Wilson disease [RCV001110502] |
Chr13:51974611 [GRCh38]
Chr13:52548747 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.*1746C>T |
single nucleotide variant |
Wilson disease [RCV001110835] |
Chr13:51933010 [GRCh38]
Chr13:52507146 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1744C>T |
single nucleotide variant |
Wilson disease [RCV001110836]|not provided [RCV004706008] |
Chr13:51933012 [GRCh38]
Chr13:52507148 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.*1618G>A |
single nucleotide variant |
Wilson disease [RCV001110837] |
Chr13:51933138 [GRCh38]
Chr13:52507274 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1005G>A |
single nucleotide variant |
Wilson disease [RCV001110903] |
Chr13:51933751 [GRCh38]
Chr13:52507887 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*920G>A |
single nucleotide variant |
Wilson disease [RCV001110904] |
Chr13:51933836 [GRCh38]
Chr13:52507972 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) |
single nucleotide variant |
Wilson disease [RCV001069979]|not provided [RCV001508349] |
Chr13:51964895 [GRCh38]
Chr13:52539031 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile) |
single nucleotide variant |
Wilson disease [RCV001110984] |
Chr13:51937487 [GRCh38]
Chr13:52511623 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val) |
single nucleotide variant |
Wilson disease [RCV001110985] |
Chr13:51937505 [GRCh38]
Chr13:52511641 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.363C>T (p.Phe121=) |
single nucleotide variant |
Wilson disease [RCV001111263] |
Chr13:51974857 [GRCh38]
Chr13:52548993 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.80G>A (p.Arg27His) |
single nucleotide variant |
Wilson disease [RCV001111264] |
Chr13:51975140 [GRCh38]
Chr13:52549276 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2388_2389del (p.Met796fs) |
deletion |
Wilson disease [RCV001582386] |
Chr13:51957574..51957575 [GRCh38]
Chr13:52531710..52531711 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1544-257del |
deletion |
not provided [RCV001695369] |
Chr13:51968864 [GRCh38]
Chr13:52543000 [GRCh37]
Chr13:13q14.3 |
benign |
| NC_000013.11:g.52011857G>A |
single nucleotide variant |
not provided [RCV001713061]|not specified [RCV001001673] |
Chr13:52011857 [GRCh38]
Chr13:52585993 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) |
single nucleotide variant |
Wilson disease [RCV001002164]|not provided [RCV002261249] |
Chr13:51950056 [GRCh38]
Chr13:52524192 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1073del (p.Cys358fs) |
deletion |
Wilson disease [RCV001174638] |
Chr13:51974147 [GRCh38]
Chr13:52548283 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) |
single nucleotide variant |
ATP7B-related disorder [RCV004751900]|Inborn genetic diseases [RCV002327425]|Wilson disease [RCV001828588]|not provided [RCV004720077]|not specified [RCV001174860] |
Chr13:51974052 [GRCh38]
Chr13:52548188 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.52-208_52-205del |
deletion |
not provided [RCV001585535] |
Chr13:51975373..51975376 [GRCh38]
Chr13:52549509..52549512 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser) |
single nucleotide variant |
Wilson disease [RCV001036116] |
Chr13:51937337 [GRCh38]
Chr13:52511473 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3061-290G>C |
single nucleotide variant |
not provided [RCV001580970] |
Chr13:51944581 [GRCh38]
Chr13:52518717 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=) |
single nucleotide variant |
Wilson disease [RCV001112989] |
Chr13:51939125 [GRCh38]
Chr13:52513261 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3168del (p.Leu1057fs) |
deletion |
Wilson disease [RCV001530204] |
Chr13:51944184 [GRCh38]
Chr13:52518320 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3608C>T (p.Ala1203Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003208828] |
Chr13:51939142 [GRCh38]
Chr13:52513278 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) |
single nucleotide variant |
Wilson disease [RCV001240674]|not provided [RCV004693429] |
Chr13:51941135 [GRCh38]
Chr13:52515271 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.(?_51934746)_(51950409_?)del |
deletion |
Wilson disease [RCV001031590] |
Chr13:52508882..52524545 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1419C>T (p.Asp473=) |
single nucleotide variant |
Wilson disease [RCV001492406] |
Chr13:51970616 [GRCh38]
Chr13:52544752 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.561T>C (p.Tyr187=) |
single nucleotide variant |
Wilson disease [RCV002069608] |
Chr13:51974659 [GRCh38]
Chr13:52548795 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4112T>G (p.Leu1371Arg) |
single nucleotide variant |
Wilson disease [RCV001233023] |
Chr13:51935605 [GRCh38]
Chr13:52509741 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter) |
single nucleotide variant |
Wilson disease [RCV001001014] |
Chr13:51974937 [GRCh38]
Chr13:52549073 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.11:g.52011733G>C |
single nucleotide variant |
Wilson disease [RCV001832320]|not provided [RCV001811613] |
Chr13:52011733 [GRCh38]
Chr13:52585869 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.1427C>T (p.Ala476Val) |
single nucleotide variant |
Wilson disease [RCV001235818] |
Chr13:51970608 [GRCh38]
Chr13:52544744 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.804dup (p.Lys269Ter) |
duplication |
Wilson disease [RCV001035506] |
Chr13:51974415..51974416 [GRCh38]
Chr13:52548551..52548552 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2356-16del |
deletion |
Wilson disease [RCV001198633] |
Chr13:51957623 [GRCh38]
Chr13:52531759 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.356dup (p.Met119fs) |
duplication |
Wilson disease [RCV001213101] |
Chr13:51974863..51974864 [GRCh38]
Chr13:52548999..52549000 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1947-19T>A |
single nucleotide variant |
Wilson disease [RCV001003497] |
Chr13:51960341 [GRCh38]
Chr13:52534477 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3556+29TC[2] |
microsatellite |
Wilson disease [RCV001001453] |
Chr13:51941047..51941048 [GRCh38]
Chr13:52515183..52515184 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3741_3742insCA (p.Lys1248fs) |
insertion |
Wilson disease [RCV001002281] |
Chr13:51937637..51937638 [GRCh38]
Chr13:52511773..52511774 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1182G>C (p.Leu394Phe) |
single nucleotide variant |
Wilson disease [RCV001057545] |
Chr13:51974038 [GRCh38]
Chr13:52548174 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.839G>A (p.Gly280Asp) |
single nucleotide variant |
Wilson disease [RCV001233033] |
Chr13:51974381 [GRCh38]
Chr13:52548517 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1206G>A |
single nucleotide variant |
Wilson disease [RCV001114176] |
Chr13:51933550 [GRCh38]
Chr13:52507686 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*1124C>G |
single nucleotide variant |
Wilson disease [RCV001114179] |
Chr13:51933632 [GRCh38]
Chr13:52507768 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.*111G>T |
single nucleotide variant |
Wilson disease [RCV001114258] |
Chr13:51934645 [GRCh38]
Chr13:52508781 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr) |
single nucleotide variant |
Wilson disease [RCV001114347] |
Chr13:51942422 [GRCh38]
Chr13:52516558 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.(?_51934746)_(52029658_?)del |
deletion |
Wilson disease [RCV001033724] |
Chr13:52508882..52603794 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.-91C>T |
single nucleotide variant |
Wilson disease [RCV001113269] |
Chr13:52011428 [GRCh38]
Chr13:52585564 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2447+1G>T |
single nucleotide variant |
Wilson disease [RCV001064049]|not provided [RCV003159560] |
Chr13:51957515 [GRCh38]
Chr13:52531651 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3700del |
deletion |
Wilson disease [RCV003462641]|not provided [RCV001171672] |
Chr13:51937679 [GRCh38]
Chr13:52511815 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys) |
deletion |
not specified [RCV001174943] |
Chr13:51939053..51939055 [GRCh38]
Chr13:52513189..52513191 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.956del (p.Pro319fs) |
deletion |
Inborn genetic diseases [RCV002375178]|Wilson disease [RCV001214559] |
Chr13:51974264 [GRCh38]
Chr13:52548400 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter) |
single nucleotide variant |
Wilson disease [RCV001250186] |
Chr13:51974364 [GRCh38]
Chr13:52548500 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.*34G>A |
single nucleotide variant |
Wilson disease [RCV001114259] |
Chr13:51934722 [GRCh38]
Chr13:52508858 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2952del (p.Cys985fs) |
deletion |
Wilson disease [RCV001230614] |
Chr13:51946392 [GRCh38]
Chr13:52520528 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.835A>G (p.Ile279Val) |
single nucleotide variant |
Wilson disease [RCV001051461]|not provided [RCV003326532] |
Chr13:51974385 [GRCh38]
Chr13:52548521 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1247C>T (p.Ala416Val) |
single nucleotide variant |
not specified [RCV001193094] |
Chr13:51973973 [GRCh38]
Chr13:52548109 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4296C>T (p.Ser1432=) |
single nucleotide variant |
Wilson disease [RCV002069606]|not provided [RCV001091633] |
Chr13:51934858 [GRCh38]
Chr13:52508994 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3243+4C>T |
single nucleotide variant |
Wilson disease [RCV001862698] |
Chr13:51944105 [GRCh38]
Chr13:52518241 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4021+34G>A |
single nucleotide variant |
Wilson disease [RCV001000198] |
Chr13:51937242 [GRCh38]
Chr13:52511378 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2866-2del |
deletion |
Wilson disease [RCV001001375] |
Chr13:51946480 [GRCh38]
Chr13:52520616 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly) |
single nucleotide variant |
Wilson disease [RCV001062707]|not provided [RCV003322847] |
Chr13:51942520 [GRCh38]
Chr13:52516656 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.769G>T (p.Val257Phe) |
single nucleotide variant |
Wilson disease [RCV001215034] |
Chr13:51974451 [GRCh38]
Chr13:52548587 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del) |
microsatellite |
Wilson disease [RCV001063214]|not provided [RCV002223982] |
Chr13:51949735..51949737 [GRCh38]
Chr13:52523871..52523873 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1282T>G (p.Ser428Ala) |
single nucleotide variant |
Wilson disease [RCV001063657] |
Chr13:51973938 [GRCh38]
Chr13:52548074 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002451623]|Wilson disease [RCV001254597]|not provided [RCV001751521] |
Chr13:51941086 [GRCh38]
Chr13:52515222 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg) |
single nucleotide variant |
Wilson disease [RCV002568713]|not specified [RCV001251307] |
Chr13:51970540 [GRCh38]
Chr13:52544676 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val) |
single nucleotide variant |
Wilson disease [RCV001251406] |
Chr13:51937546 [GRCh38]
Chr13:52511682 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.695C>T (p.Pro232Leu) |
single nucleotide variant |
Wilson disease [RCV003051042]|not provided [RCV004784093] |
Chr13:51974525 [GRCh38]
Chr13:52548661 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 13p13-q34(chr13:1-115169878) |
copy number gain |
Complete trisomy 13 syndrome [RCV002280659] |
Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34 |
pathogenic |
| NM_000053.4(ATP7B):c.1391G>C (p.Gly464Ala) |
single nucleotide variant |
Wilson disease [RCV004805420] |
Chr13:51970644 [GRCh38]
Chr13:52544780 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1646T>C (p.Leu549Pro) |
single nucleotide variant |
Wilson disease [RCV004805352] |
Chr13:51968505 [GRCh38]
Chr13:52542641 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1589T>C (p.Ile530Thr) |
single nucleotide variant |
Wilson disease [RCV004805367] |
Chr13:51968562 [GRCh38]
Chr13:52542698 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1587G>A (p.Glu529=) |
single nucleotide variant |
Wilson disease [RCV004805374] |
Chr13:51968564 [GRCh38]
Chr13:52542700 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1562T>C (p.Val521Ala) |
single nucleotide variant |
Wilson disease [RCV004805383] |
Chr13:51968589 [GRCh38]
Chr13:52542725 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1201G>A (p.Val401Ile) |
single nucleotide variant |
Wilson disease [RCV004805464] |
Chr13:51974019 [GRCh38]
Chr13:52548155 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1286-10T>A |
single nucleotide variant |
Wilson disease [RCV004805446] |
Chr13:51970759 [GRCh38]
Chr13:52544895 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.840C>T (p.Gly280=) |
single nucleotide variant |
Wilson disease [RCV004802456] |
Chr13:51974380 [GRCh38]
Chr13:52548516 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.195G>A (p.Leu65=) |
single nucleotide variant |
Wilson disease [RCV004802555] |
Chr13:51975025 [GRCh38]
Chr13:52549161 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter) |
single nucleotide variant |
Wilson disease [RCV001263751] |
Chr13:51942485 [GRCh38]
Chr13:52516621 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter) |
single nucleotide variant |
Wilson disease [RCV001263752] |
Chr13:51944115 [GRCh38]
Chr13:52518251 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter) |
single nucleotide variant |
Wilson disease [RCV001263754] |
Chr13:51946395 [GRCh38]
Chr13:52520531 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter) |
single nucleotide variant |
Wilson disease [RCV001263755] |
Chr13:51950317 [GRCh38]
Chr13:52524453 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter) |
single nucleotide variant |
Wilson disease [RCV001263756] |
Chr13:51964922 [GRCh38]
Chr13:52539058 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1699G>T (p.Glu567Ter) |
single nucleotide variant |
Wilson disease [RCV001263757] |
Chr13:51968452 [GRCh38]
Chr13:52542588 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter) |
single nucleotide variant |
Wilson disease [RCV001263829] |
Chr13:51974715 [GRCh38]
Chr13:52548851 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter) |
single nucleotide variant |
Wilson disease [RCV001263830] |
Chr13:51974991 [GRCh38]
Chr13:52549127 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter) |
single nucleotide variant |
Wilson disease [RCV001263831] |
Chr13:51975000 [GRCh38]
Chr13:52549136 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter) |
single nucleotide variant |
Wilson disease [RCV001263832] |
Chr13:51975134 [GRCh38]
Chr13:52549270 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=) |
single nucleotide variant |
Wilson disease [RCV001287603] |
Chr13:51939135 [GRCh38]
Chr13:52513271 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter) |
single nucleotide variant |
Wilson disease [RCV001263753] |
Chr13:51944189 [GRCh38]
Chr13:52518325 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter) |
single nucleotide variant |
Wilson disease [RCV001263758] |
Chr13:51968555 [GRCh38]
Chr13:52542691 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter) |
single nucleotide variant |
Wilson disease [RCV001264317] |
Chr13:51941114 [GRCh38]
Chr13:52515250 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro) |
single nucleotide variant |
Wilson disease [RCV002542842]|not specified [RCV001264581] |
Chr13:52011327 [GRCh38]
Chr13:52585463 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter) |
single nucleotide variant |
Wilson disease [RCV001260396] |
Chr13:51968521 [GRCh38]
Chr13:52542657 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.750G>A (p.Gly250=) |
single nucleotide variant |
Wilson disease [RCV004802469] |
Chr13:51974470 [GRCh38]
Chr13:52548606 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.529T>C (p.Ser177Pro) |
single nucleotide variant |
Wilson disease [RCV004802509] |
Chr13:51974691 [GRCh38]
Chr13:52548827 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter) |
single nucleotide variant |
Wilson disease [RCV001267645] |
Chr13:51937613 [GRCh38]
Chr13:52511749 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe) |
single nucleotide variant |
Wilson disease [RCV001285544] |
Chr13:51958435 [GRCh38]
Chr13:52532571 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3679G>A (p.Ala1227Thr) |
single nucleotide variant |
Wilson disease [RCV001279625] |
Chr13:51939071 [GRCh38]
Chr13:52513207 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3060G>T (p.Lys1020Asn) |
single nucleotide variant |
Wilson disease [RCV001279626] |
Chr13:51946284 [GRCh38]
Chr13:52520420 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2127C>T (p.Leu709=) |
single nucleotide variant |
Wilson disease [RCV001287686] |
Chr13:51958539 [GRCh38]
Chr13:52532675 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3412+1G>A |
single nucleotide variant |
Wilson disease [RCV001280567]|not provided [RCV003481050] |
Chr13:51942385 [GRCh38]
Chr13:52516521 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3060+63A>T |
single nucleotide variant |
not provided [RCV001538925] |
Chr13:51946221 [GRCh38]
Chr13:52520357 [GRCh37]
Chr13:13q14.3 |
likely benign |
| GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 |
copy number gain |
not provided [RCV001258545] |
Chr13:45487628..52639336 [GRCh37]
Chr13:13q14.12-14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.148G>A (p.Gly50Ser) |
single nucleotide variant |
Wilson disease [RCV004802570] |
Chr13:51975072 [GRCh38]
Chr13:52549208 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.373A>G (p.Ile125Val) |
single nucleotide variant |
Wilson disease [RCV004802529] |
Chr13:51974847 [GRCh38]
Chr13:52548983 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.217G>A (p.Val73Met) |
single nucleotide variant |
Wilson disease [RCV004802544] |
Chr13:51975003 [GRCh38]
Chr13:52549139 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.216T>G (p.Cys72Trp) |
single nucleotide variant |
Wilson disease [RCV004802547] |
Chr13:51975004 [GRCh38]
Chr13:52549140 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4125-23G>A |
single nucleotide variant |
ATP7B-related disorder [RCV003928819]|Wilson disease [RCV001286905]|not provided [RCV004706082] |
Chr13:51935052 [GRCh38]
Chr13:52509188 [GRCh37]
Chr13:13q14.3 |
benign|likely benign |
| NM_000053.4(ATP7B):c.3787G>A (p.Ala1263Thr) |
single nucleotide variant |
Wilson disease [RCV001320141] |
Chr13:51937592 [GRCh38]
Chr13:52511728 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs) |
deletion |
Wilson disease [RCV001280593] |
Chr13:51970512..51970515 [GRCh38]
Chr13:52544648..52544651 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.866A>C (p.Gln289Pro) |
single nucleotide variant |
Wilson disease [RCV001339236] |
Chr13:51974354 [GRCh38]
Chr13:52548490 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2604del (p.Gly869fs) |
deletion |
Wilson disease [RCV001956403]|not provided [RCV002251598] |
Chr13:51950133 [GRCh38]
Chr13:52524269 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1326G>T (p.Gly442=) |
single nucleotide variant |
Wilson disease [RCV001343041] |
Chr13:51970709 [GRCh38]
Chr13:52544845 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1460C>T (p.Pro487Leu) |
single nucleotide variant |
Wilson disease [RCV001342216] |
Chr13:51970575 [GRCh38]
Chr13:52544711 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.604A>G (p.Asn202Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003166710]|Wilson disease [RCV001303304] |
Chr13:51974616 [GRCh38]
Chr13:52548752 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1285+5G>C |
single nucleotide variant |
Wilson disease [RCV001319140] |
Chr13:51973930 [GRCh38]
Chr13:52548066 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3609C>T (p.Ala1203=) |
single nucleotide variant |
Wilson disease [RCV001422191] |
Chr13:51939141 [GRCh38]
Chr13:52513277 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3582C>A (p.Ile1194=) |
single nucleotide variant |
Wilson disease [RCV001397220] |
Chr13:51939168 [GRCh38]
Chr13:52513304 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.600T>C (p.His200=) |
single nucleotide variant |
Wilson disease [RCV001415475] |
Chr13:51974620 [GRCh38]
Chr13:52548756 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2568C>T (p.Leu856=) |
single nucleotide variant |
Wilson disease [RCV001412692] |
Chr13:51950279 [GRCh38]
Chr13:52524415 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys) |
single nucleotide variant |
Wilson disease [RCV001289883] |
Chr13:51960240 [GRCh38]
Chr13:52534376 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 |
copy number gain |
See cases [RCV001353184] |
Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.2953del (p.Cys985fs) |
deletion |
Wilson disease [RCV001290264] |
Chr13:51946391 [GRCh38]
Chr13:52520527 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.52-5T>C |
single nucleotide variant |
Wilson disease [RCV001395096] |
Chr13:51975173 [GRCh38]
Chr13:52549309 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2275A>T (p.Ser759Cys) |
single nucleotide variant |
not specified [RCV001420912] |
Chr13:51958391 [GRCh38]
Chr13:52532527 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3747G>A (p.Val1249=) |
single nucleotide variant |
Inborn genetic diseases [RCV003298688]|Wilson disease [RCV001414342] |
Chr13:51937632 [GRCh38]
Chr13:52511768 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.51+3G>A |
single nucleotide variant |
not provided [RCV001354395] |
Chr13:52011284 [GRCh38]
Chr13:52585420 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3699+3A>G |
single nucleotide variant |
Wilson disease [RCV001279624] |
Chr13:51939048 [GRCh38]
Chr13:52513184 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2730G>A (p.Lys910=) |
single nucleotide variant |
Wilson disease [RCV001279627]|not provided [RCV001838470] |
Chr13:51950007 [GRCh38]
Chr13:52524143 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2712A>G (p.Glu904=) |
single nucleotide variant |
ATP7B-related disorder [RCV003908493]|Inborn genetic diseases [RCV004035492]|Wilson disease [RCV001279628] |
Chr13:51950025 [GRCh38]
Chr13:52524161 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2463C>T (p.Pro821=) |
single nucleotide variant |
Wilson disease [RCV001279630]|not provided [RCV001579365] |
Chr13:51950384 [GRCh38]
Chr13:52524520 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.348T>A (p.Ile116=) |
single nucleotide variant |
Wilson disease [RCV001369087] |
Chr13:51974872 [GRCh38]
Chr13:52549008 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1761G>A (p.Thr587=) |
single nucleotide variant |
Wilson disease [RCV001421266] |
Chr13:51964980 [GRCh38]
Chr13:52539116 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1092C>G (p.Ala364=) |
single nucleotide variant |
Wilson disease [RCV001280016] |
Chr13:51974128 [GRCh38]
Chr13:52548264 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.78C>G (p.Thr26=) |
single nucleotide variant |
Wilson disease [RCV001280025] |
Chr13:51975142 [GRCh38]
Chr13:52549278 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.-389A>G |
single nucleotide variant |
Wilson disease [RCV001280027] |
Chr13:52011726 [GRCh38]
Chr13:52585862 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2034C>G (p.Pro678=) |
single nucleotide variant |
Wilson disease [RCV001413573] |
Chr13:51960235 [GRCh38]
Chr13:52534371 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2664C>G (p.Thr888=) |
single nucleotide variant |
Wilson disease [RCV001423088] |
Chr13:51950073 [GRCh38]
Chr13:52524209 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2922G>A (p.Thr974=) |
single nucleotide variant |
Wilson disease [RCV001392703] |
Chr13:51946422 [GRCh38]
Chr13:52520558 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1285+8G>A |
single nucleotide variant |
Wilson disease [RCV001392744] |
Chr13:51973927 [GRCh38]
Chr13:52548063 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.258C>T (p.Ile86=) |
single nucleotide variant |
Wilson disease [RCV001423139] |
Chr13:51974962 [GRCh38]
Chr13:52549098 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.423G>A (p.Gln141=) |
single nucleotide variant |
Wilson disease [RCV001404703]|not provided [RCV001311348] |
Chr13:51974797 [GRCh38]
Chr13:52548933 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3244-5C>T |
single nucleotide variant |
Wilson disease [RCV001423148] |
Chr13:51942559 [GRCh38]
Chr13:52516695 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3178G>T (p.Val1060Leu) |
single nucleotide variant |
Wilson disease [RCV004017115] |
Chr13:51944174 [GRCh38]
Chr13:52518310 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3412+7C>T |
single nucleotide variant |
Wilson disease [RCV001422905] |
Chr13:51942379 [GRCh38]
Chr13:52516515 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu) |
single nucleotide variant |
Wilson disease [RCV001319881] |
Chr13:51935687 [GRCh38]
Chr13:52509823 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002456483]|Wilson disease [RCV001341983]|not specified [RCV003331123] |
Chr13:51974078 [GRCh38]
Chr13:52548214 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4181C>T (p.Pro1394Leu) |
single nucleotide variant |
Wilson disease [RCV001320140] |
Chr13:51934973 [GRCh38]
Chr13:52509109 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.113C>A (p.Ala38Asp) |
single nucleotide variant |
Wilson disease [RCV001323991] |
Chr13:51975107 [GRCh38]
Chr13:52549243 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.227T>C (p.Ile76Thr) |
single nucleotide variant |
Wilson disease [RCV001301742] |
Chr13:51974993 [GRCh38]
Chr13:52549129 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His) |
single nucleotide variant |
Inborn genetic diseases [RCV002541714]|Wilson disease [RCV001279621]|not provided [RCV003481046] |
Chr13:51937332 [GRCh38]
Chr13:52511468 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2121+5A>G |
single nucleotide variant |
Wilson disease [RCV001279635] |
Chr13:51960143 [GRCh38]
Chr13:52534279 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1605G>A (p.Glu535=) |
single nucleotide variant |
Wilson disease [RCV001280013] |
Chr13:51968546 [GRCh38]
Chr13:52542682 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.950C>A (p.Ala317Glu) |
single nucleotide variant |
Wilson disease [RCV001280019] |
Chr13:51974270 [GRCh38]
Chr13:52548406 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.610A>G (p.Met204Val) |
single nucleotide variant |
Wilson disease [RCV001280021]|not provided [RCV001507827] |
Chr13:51974610 [GRCh38]
Chr13:52548746 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.4295C>T (p.Ser1432Phe) |
single nucleotide variant |
Wilson disease [RCV001279619] |
Chr13:51934859 [GRCh38]
Chr13:52508995 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3700-7G>A |
single nucleotide variant |
Wilson disease [RCV001279623] |
Chr13:51937686 [GRCh38]
Chr13:52511822 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1554C>T (p.Ser518=) |
single nucleotide variant |
Wilson disease [RCV001280014]|not provided [RCV002261330] |
Chr13:51968597 [GRCh38]
Chr13:52542733 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys) |
single nucleotide variant |
Wilson disease [RCV001280023]|not specified [RCV002307719] |
Chr13:51975089 [GRCh38]
Chr13:52549225 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2122-3C>G |
single nucleotide variant |
Wilson disease [RCV001299268] |
Chr13:51958547 [GRCh38]
Chr13:52532683 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.558T>C (p.Thr186=) |
single nucleotide variant |
Wilson disease [RCV004802501] |
Chr13:51974662 [GRCh38]
Chr13:52548798 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.530C>G (p.Ser177Ter) |
single nucleotide variant |
Wilson disease [RCV004802503] |
Chr13:51974690 [GRCh38]
Chr13:52548826 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2194C>T (p.Leu732Phe) |
single nucleotide variant |
Wilson disease [RCV001320877] |
Chr13:51958472 [GRCh38]
Chr13:52532608 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1648_1654del (p.Gly550fs) |
deletion |
Wilson disease [RCV001290667] |
Chr13:51968497..51968503 [GRCh38]
Chr13:52542633..52542639 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3235T>C (p.Cys1079Arg) |
single nucleotide variant |
Wilson disease [RCV001317345]|not specified [RCV001844283] |
Chr13:51944117 [GRCh38]
Chr13:52518253 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu) |
single nucleotide variant |
Wilson disease [RCV001322608] |
Chr13:51950116 [GRCh38]
Chr13:52524252 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.943A>G (p.Ile315Val) |
single nucleotide variant |
Wilson disease [RCV001360103] |
Chr13:51974277 [GRCh38]
Chr13:52548413 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.213A>G (p.Ser71=) |
single nucleotide variant |
Wilson disease [RCV001348458] |
Chr13:51975007 [GRCh38]
Chr13:52549143 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3043C>T (p.Leu1015=) |
single nucleotide variant |
Wilson disease [RCV001421223] |
Chr13:51946301 [GRCh38]
Chr13:52520437 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.768G>A (p.Val256=) |
single nucleotide variant |
Wilson disease [RCV001395612] |
Chr13:51974452 [GRCh38]
Chr13:52548588 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1749G>A (p.Glu583=) |
single nucleotide variant |
Inborn genetic diseases [RCV004968155]|Wilson disease [RCV001395944] |
Chr13:51964992 [GRCh38]
Chr13:52539128 [GRCh37]
Chr13:13q14.3 |
likely benign |
| GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3 |
copy number gain |
not provided [RCV001270648] |
Chr13:52170957..57713087 [GRCh37]
Chr13:13q14.3-21.1 |
uncertain significance |
| NM_000053.4(ATP7B):c.4124+5G>A |
single nucleotide variant |
Wilson disease [RCV001366915] |
Chr13:51935588 [GRCh38]
Chr13:52509724 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.534C>A (p.Leu178=) |
single nucleotide variant |
Wilson disease [RCV001414113] |
Chr13:51974686 [GRCh38]
Chr13:52548822 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2575+4A>G |
single nucleotide variant |
Wilson disease [RCV001279629] |
Chr13:51950268 [GRCh38]
Chr13:52524404 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2121+6T>G |
single nucleotide variant |
Wilson disease [RCV001279634] |
Chr13:51960142 [GRCh38]
Chr13:52534278 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4175T>C (p.Met1392Thr) |
single nucleotide variant |
Wilson disease [RCV001279620] |
Chr13:51934979 [GRCh38]
Chr13:52509115 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3756C>T (p.Val1252=) |
single nucleotide variant |
Wilson disease [RCV001279622] |
Chr13:51937623 [GRCh38]
Chr13:52511759 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2356-9A>G |
single nucleotide variant |
Wilson disease [RCV001279632] |
Chr13:51957616 [GRCh38]
Chr13:52531752 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.690T>C (p.Thr230=) |
single nucleotide variant |
Wilson disease [RCV001280020] |
Chr13:51974530 [GRCh38]
Chr13:52548666 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.113C>T (p.Ala38Val) |
single nucleotide variant |
Wilson disease [RCV001280024] |
Chr13:51975107 [GRCh38]
Chr13:52549243 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1841G>A (p.Gly614Asp) |
single nucleotide variant |
Wilson disease [RCV001290337] |
Chr13:51964900 [GRCh38]
Chr13:52539036 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.968T>C (p.Phe323Ser) |
single nucleotide variant |
Wilson disease [RCV001280018] |
Chr13:51974252 [GRCh38]
Chr13:52548388 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.895G>C (p.Val299Leu) |
single nucleotide variant |
Wilson disease [RCV001330944] |
Chr13:51974325 [GRCh38]
Chr13:52548461 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2322T>C (p.Ile774=) |
single nucleotide variant |
Wilson disease [RCV001421298] |
Chr13:51958344 [GRCh38]
Chr13:52532480 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-7A>G |
single nucleotide variant |
Wilson disease [RCV001413597] |
Chr13:51970756 [GRCh38]
Chr13:52544892 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1962C>T (p.Phe654=) |
single nucleotide variant |
Wilson disease [RCV001395909] |
Chr13:51960307 [GRCh38]
Chr13:52534443 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3731T>C (p.Leu1244Pro) |
single nucleotide variant |
Wilson disease [RCV001368682] |
Chr13:51937648 [GRCh38]
Chr13:52511784 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1407C>A (p.Asn469Lys) |
single nucleotide variant |
Wilson disease [RCV001369103] |
Chr13:51970628 [GRCh38]
Chr13:52544764 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4282_4285delinsATAA (p.Val1428_Ser1429delinsIleThr) |
indel |
not provided [RCV001507820] |
Chr13:51934869..51934872 [GRCh38]
Chr13:52509005..52509008 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) |
indel |
Wilson disease [RCV002564214]|not provided [RCV001507822] |
Chr13:51937350..51937355 [GRCh38]
Chr13:52511486..52511491 [GRCh37]
Chr13:13q14.3 |
pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.4125-7T>C |
single nucleotide variant |
Wilson disease [RCV001412953] |
Chr13:51935036 [GRCh38]
Chr13:52509172 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3681C>T (p.Ala1227=) |
single nucleotide variant |
Wilson disease [RCV001412860] |
Chr13:51939069 [GRCh38]
Chr13:52513205 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4122G>A (p.Lys1374=) |
single nucleotide variant |
Wilson disease [RCV001396084] |
Chr13:51935595 [GRCh38]
Chr13:52509731 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1030C>T (p.His344Tyr) |
single nucleotide variant |
Wilson disease [RCV001357726] |
Chr13:51974190 [GRCh38]
Chr13:52548326 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2805G>A (p.Thr935=) |
single nucleotide variant |
ATP7B-related disorder [RCV003980431]|Wilson disease [RCV001494407]|not provided [RCV002511090] |
Chr13:51949722 [GRCh38]
Chr13:52523858 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3932T>G (p.Ile1311Ser) |
single nucleotide variant |
not provided [RCV001507823] |
Chr13:51937365 [GRCh38]
Chr13:52511501 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.92dup (p.Ala32fs) |
duplication |
Wilson disease [RCV001387146] |
Chr13:51975127..51975128 [GRCh38]
Chr13:52549263..52549264 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3885C>A (p.Ala1295=) |
single nucleotide variant |
Wilson disease [RCV001460608] |
Chr13:51937494 [GRCh38]
Chr13:52511630 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) |
single nucleotide variant |
Wilson disease [RCV001469712]|not provided [RCV001579789]|not specified [RCV001820163] |
Chr13:51941221 [GRCh38]
Chr13:52515357 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3174T>C (p.Ala1058=) |
single nucleotide variant |
Wilson disease [RCV001450454] |
Chr13:51944178 [GRCh38]
Chr13:52518314 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3083_3085delinsC (p.Lys1028fs) |
indel |
not provided [RCV001508713] |
Chr13:51944267..51944269 [GRCh38]
Chr13:52518403..52518405 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2082T>C (p.Ile694=) |
single nucleotide variant |
Inborn genetic diseases [RCV004037353]|Wilson disease [RCV001495590] |
Chr13:51960187 [GRCh38]
Chr13:52534323 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1887T>C (p.Ala629=) |
single nucleotide variant |
Wilson disease [RCV001495117] |
Chr13:51961896 [GRCh38]
Chr13:52536032 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1707+7A>C |
single nucleotide variant |
Wilson disease [RCV001402081] |
Chr13:51968437 [GRCh38]
Chr13:52542573 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3318C>T (p.Val1106=) |
single nucleotide variant |
Wilson disease [RCV001457076] |
Chr13:51942480 [GRCh38]
Chr13:52516616 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1869+9T>C |
single nucleotide variant |
Wilson disease [RCV001466809] |
Chr13:51964863 [GRCh38]
Chr13:52538999 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3984A>G (p.Ala1328=) |
single nucleotide variant |
Wilson disease [RCV001492375] |
Chr13:51937313 [GRCh38]
Chr13:52511449 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3066G>A (p.Lys1022=) |
single nucleotide variant |
Wilson disease [RCV001473517] |
Chr13:51944286 [GRCh38]
Chr13:52518422 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3936C>T (p.His1312=) |
single nucleotide variant |
Wilson disease [RCV001458514] |
Chr13:51937361 [GRCh38]
Chr13:52511497 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr) |
single nucleotide variant |
ATP7B-related disorder [RCV003426062]|Wilson disease [RCV001378212] |
Chr13:51946357 [GRCh38]
Chr13:52520493 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.2934G>T (p.Val978=) |
single nucleotide variant |
Wilson disease [RCV001428071] |
Chr13:51946410 [GRCh38]
Chr13:52520546 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=) |
single nucleotide variant |
Wilson disease [RCV001461400]|not provided [RCV001581143] |
Chr13:51968474 [GRCh38]
Chr13:52542610 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2196C>T (p.Leu732=) |
single nucleotide variant |
Inborn genetic diseases [RCV002432275]|Wilson disease [RCV001457417]|not provided [RCV001566037] |
Chr13:51958470 [GRCh38]
Chr13:52532606 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3956G>A (p.Arg1319Gln) |
single nucleotide variant |
Wilson disease [RCV001496259] |
Chr13:51937341 [GRCh38]
Chr13:52511477 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3864G>A (p.Thr1288=) |
single nucleotide variant |
Wilson disease [RCV001498936] |
Chr13:51937515 [GRCh38]
Chr13:52511651 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1150C>T (p.Leu384=) |
single nucleotide variant |
Wilson disease [RCV001504765] |
Chr13:51974070 [GRCh38]
Chr13:52548206 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1811C>A (p.Ala604Asp) |
single nucleotide variant |
Wilson disease [RCV001527075] |
Chr13:51964930 [GRCh38]
Chr13:52539066 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2511A>G (p.Gly837=) |
single nucleotide variant |
Wilson disease [RCV001506339] |
Chr13:51950336 [GRCh38]
Chr13:52524472 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2826C>A (p.Ile942=) |
single nucleotide variant |
not specified [RCV001527051] |
Chr13:51949701 [GRCh38]
Chr13:52523837 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.945C>T (p.Ile315=) |
single nucleotide variant |
Wilson disease [RCV001425738] |
Chr13:51974275 [GRCh38]
Chr13:52548411 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4182C>G (p.Pro1394=) |
single nucleotide variant |
Wilson disease [RCV001455271] |
Chr13:51934972 [GRCh38]
Chr13:52509108 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3465G>T (p.Arg1155Ser) |
single nucleotide variant |
Wilson disease [RCV001492743] |
Chr13:51941172 [GRCh38]
Chr13:52515308 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2826C>T (p.Ile942=) |
single nucleotide variant |
Wilson disease [RCV001492784]|not specified [RCV001820193] |
Chr13:51949701 [GRCh38]
Chr13:52523837 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1485A>G (p.Lys495=) |
single nucleotide variant |
Wilson disease [RCV001503548] |
Chr13:51970550 [GRCh38]
Chr13:52544686 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.327G>A (p.Leu109=) |
single nucleotide variant |
Inborn genetic diseases [RCV002449216]|Wilson disease [RCV001452155]|not specified [RCV002282551] |
Chr13:51974893 [GRCh38]
Chr13:52549029 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3244-7T>C |
single nucleotide variant |
Wilson disease [RCV001461985] |
Chr13:51942561 [GRCh38]
Chr13:52516697 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2412C>G (p.Thr804=) |
single nucleotide variant |
Wilson disease [RCV001479328] |
Chr13:51957551 [GRCh38]
Chr13:52531687 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.237G>A (p.Arg79=) |
single nucleotide variant |
Wilson disease [RCV001474249] |
Chr13:51974983 [GRCh38]
Chr13:52549119 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4065C>A (p.Gly1355=) |
single nucleotide variant |
Wilson disease [RCV001405739] |
Chr13:51935652 [GRCh38]
Chr13:52509788 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3738G>C (p.Ser1246=) |
single nucleotide variant |
Wilson disease [RCV001462911] |
Chr13:51937641 [GRCh38]
Chr13:52511777 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.696A>G (p.Pro232=) |
single nucleotide variant |
Wilson disease [RCV001482997] |
Chr13:51974524 [GRCh38]
Chr13:52548660 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3252A>C (p.Gly1084=) |
single nucleotide variant |
Wilson disease [RCV001455728]|not provided [RCV003394061] |
Chr13:51942546 [GRCh38]
Chr13:52516682 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2495_2496delinsGA (p.Lys832Arg) |
indel |
Wilson disease [RCV001453014] |
Chr13:51950351..51950352 [GRCh38]
Chr13:52524487..52524488 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-4C>A |
single nucleotide variant |
Wilson disease [RCV001504294] |
Chr13:51935699 [GRCh38]
Chr13:52509835 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2202C>G (p.Val734=) |
single nucleotide variant |
Wilson disease [RCV001504354] |
Chr13:51958464 [GRCh38]
Chr13:52532600 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-8T>C |
single nucleotide variant |
Wilson disease [RCV001437370] |
Chr13:51941232 [GRCh38]
Chr13:52515368 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2787C>T (p.Ile929=) |
single nucleotide variant |
Wilson disease [RCV001406142] |
Chr13:51949740 [GRCh38]
Chr13:52523876 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.51+9T>G |
single nucleotide variant |
Wilson disease [RCV001493186] |
Chr13:52011278 [GRCh38]
Chr13:52585414 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.471T>C (p.Cys157=) |
single nucleotide variant |
Wilson disease [RCV001484437] |
Chr13:51974749 [GRCh38]
Chr13:52548885 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1746dup (p.Glu583fs) |
duplication |
Wilson disease [RCV001381672] |
Chr13:51964994..51964995 [GRCh38]
Chr13:52539130..52539131 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2447+5G>A |
single nucleotide variant |
Wilson disease [RCV001381673] |
Chr13:51957511 [GRCh38]
Chr13:52531647 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1366G>T (p.Val456Leu) |
single nucleotide variant |
Wilson disease [RCV001489776] |
Chr13:51970669 [GRCh38]
Chr13:52544805 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2298G>A (p.Thr766=) |
single nucleotide variant |
Wilson disease [RCV001426973] |
Chr13:51958368 [GRCh38]
Chr13:52532504 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1896C>A (p.Ala632=) |
single nucleotide variant |
Wilson disease [RCV001456510] |
Chr13:51961887 [GRCh38]
Chr13:52536023 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3024C>T (p.Leu1008=) |
single nucleotide variant |
Wilson disease [RCV001501258] |
Chr13:51946320 [GRCh38]
Chr13:52520456 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2364C>A (p.Thr788=) |
single nucleotide variant |
Wilson disease [RCV001468934] |
Chr13:51957599 [GRCh38]
Chr13:52531735 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4200C>A (p.Val1400=) |
single nucleotide variant |
Wilson disease [RCV001467694] |
Chr13:51934954 [GRCh38]
Chr13:52509090 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1524G>A (p.Arg508=) |
single nucleotide variant |
Wilson disease [RCV001416328] |
Chr13:51970511 [GRCh38]
Chr13:52544647 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NC_000013.10:g.(?_52518407)_52518976del |
deletion |
Wilson disease [RCV001382009] |
|
pathogenic |
| NM_000053.4(ATP7B):c.4326C>T (p.Ser1442=) |
single nucleotide variant |
Wilson disease [RCV001404205] |
Chr13:51934828 [GRCh38]
Chr13:52508964 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2505T>C (p.Pro835=) |
single nucleotide variant |
Wilson disease [RCV001493711] |
Chr13:51950342 [GRCh38]
Chr13:52524478 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3261C>T (p.Thr1087=) |
single nucleotide variant |
Wilson disease [RCV001416763] |
Chr13:51942537 [GRCh38]
Chr13:52516673 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter) |
single nucleotide variant |
Wilson disease [RCV001384612] |
Chr13:51974034 [GRCh38]
Chr13:52548170 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.465_466insCCTGTGCA (p.Ser156fs) |
insertion |
Wilson disease [RCV001386062] |
Chr13:51974754..51974755 [GRCh38]
Chr13:52548890..52548891 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3140del (p.Asp1047fs) |
deletion |
Wilson disease [RCV001389301] |
Chr13:51944212 [GRCh38]
Chr13:52518348 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) |
single nucleotide variant |
Wilson disease [RCV001389302]|not provided [RCV001508711] |
Chr13:51944212 [GRCh38]
Chr13:52518348 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys) |
single nucleotide variant |
Wilson disease [RCV001389303]|not specified [RCV004699364] |
Chr13:51944290 [GRCh38]
Chr13:52518426 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.1158G>A (p.Gly386=) |
single nucleotide variant |
Wilson disease [RCV001409704] |
Chr13:51974062 [GRCh38]
Chr13:52548198 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3903+9G>A |
single nucleotide variant |
Wilson disease [RCV001418594] |
Chr13:51937467 [GRCh38]
Chr13:52511603 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3894C>T (p.Val1298=) |
single nucleotide variant |
Wilson disease [RCV001446236]|not provided [RCV003394057] |
Chr13:51937485 [GRCh38]
Chr13:52511621 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1788C>T (p.Ser596=) |
single nucleotide variant |
Inborn genetic diseases [RCV002414075]|Wilson disease [RCV001448888] |
Chr13:51964953 [GRCh38]
Chr13:52539089 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1464G>A (p.Gln488=) |
single nucleotide variant |
Wilson disease [RCV001407178] |
Chr13:51970571 [GRCh38]
Chr13:52544707 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3291G>A (p.Val1097=) |
single nucleotide variant |
Wilson disease [RCV001424836] |
Chr13:51942507 [GRCh38]
Chr13:52516643 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4297C>T (p.Leu1433=) |
single nucleotide variant |
Wilson disease [RCV001428855] |
Chr13:51934857 [GRCh38]
Chr13:52508993 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.51dup |
duplication |
Wilson disease [RCV001381257] |
Chr13:52011286..52011287 [GRCh38]
Chr13:52585422..52585423 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1857C>A (p.Ile619=) |
single nucleotide variant |
Wilson disease [RCV001404724] |
Chr13:51964884 [GRCh38]
Chr13:52539020 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3603G>A (p.Glu1201=) |
single nucleotide variant |
Wilson disease [RCV001425424] |
Chr13:51939147 [GRCh38]
Chr13:52513283 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.483T>C (p.Ile161=) |
single nucleotide variant |
Wilson disease [RCV001436431] |
Chr13:51974737 [GRCh38]
Chr13:52548873 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4272T>C (p.Tyr1424=) |
single nucleotide variant |
Wilson disease [RCV001427980] |
Chr13:51934882 [GRCh38]
Chr13:52509018 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2589del (p.Val864fs) |
deletion |
Wilson disease [RCV001381331] |
Chr13:51950148 [GRCh38]
Chr13:52524284 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4101G>A (p.Val1367=) |
single nucleotide variant |
Wilson disease [RCV001446447] |
Chr13:51935616 [GRCh38]
Chr13:52509752 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.951A>G (p.Ala317=) |
single nucleotide variant |
Inborn genetic diseases [RCV003160674]|Wilson disease [RCV001417191] |
Chr13:51974269 [GRCh38]
Chr13:52548405 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3876C>T (p.Ile1292=) |
single nucleotide variant |
Wilson disease [RCV001435974] |
Chr13:51937503 [GRCh38]
Chr13:52511639 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.867A>G (p.Gln289=) |
single nucleotide variant |
Wilson disease [RCV001404925] |
Chr13:51974353 [GRCh38]
Chr13:52548489 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1452A>G (p.Ala484=) |
single nucleotide variant |
Wilson disease [RCV001407875] |
Chr13:51970583 [GRCh38]
Chr13:52544719 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2730+2T>A |
single nucleotide variant |
Wilson disease [RCV001378125] |
Chr13:51950005 [GRCh38]
Chr13:52524141 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3501C>T (p.Asp1167=) |
single nucleotide variant |
Inborn genetic diseases [RCV002456677]|Wilson disease [RCV001418967] |
Chr13:51941136 [GRCh38]
Chr13:52515272 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.447G>A (p.Val149=) |
single nucleotide variant |
Wilson disease [RCV001428543] |
Chr13:51974773 [GRCh38]
Chr13:52548909 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2730+8A>G |
single nucleotide variant |
Wilson disease [RCV001410546] |
Chr13:51949999 [GRCh38]
Chr13:52524135 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1200A>G (p.Thr400=) |
single nucleotide variant |
Wilson disease [RCV001425372] |
Chr13:51974020 [GRCh38]
Chr13:52548156 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1153G>A (p.Glu385Lys) |
single nucleotide variant |
Wilson disease [RCV001437797] |
Chr13:51974067 [GRCh38]
Chr13:52548203 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1326G>A (p.Gly442=) |
single nucleotide variant |
Wilson disease [RCV001407961] |
Chr13:51970709 [GRCh38]
Chr13:52544845 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.502C>T (p.Leu168=) |
single nucleotide variant |
Wilson disease [RCV001447176] |
Chr13:51974718 [GRCh38]
Chr13:52548854 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2796A>G (p.Ser932=) |
single nucleotide variant |
Wilson disease [RCV001447679] |
Chr13:51949731 [GRCh38]
Chr13:52523867 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs) |
deletion |
Wilson disease [RCV001384075]|not provided [RCV001531184] |
Chr13:51934779..51934780 [GRCh38]
Chr13:52508915..52508916 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1707+6_1707+7dup |
duplication |
Wilson disease [RCV001436510] |
Chr13:51968436..51968437 [GRCh38]
Chr13:52542572..52542573 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3954C>A (p.Val1318=) |
single nucleotide variant |
Wilson disease [RCV001434660] |
Chr13:51937343 [GRCh38]
Chr13:52511479 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2076G>A (p.Leu692=) |
single nucleotide variant |
Wilson disease [RCV001431670] |
Chr13:51960193 [GRCh38]
Chr13:52534329 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4236C>T (p.Asp1412=) |
single nucleotide variant |
Wilson disease [RCV001411101] |
Chr13:51934918 [GRCh38]
Chr13:52509054 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.774C>T (p.Thr258=) |
single nucleotide variant |
Wilson disease [RCV001408441] |
Chr13:51974446 [GRCh38]
Chr13:52548582 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2447+9T>C |
single nucleotide variant |
Wilson disease [RCV001401343] |
Chr13:51957507 [GRCh38]
Chr13:52531643 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1191G>A (p.Gly397=) |
single nucleotide variant |
Wilson disease [RCV001429301] |
Chr13:51974029 [GRCh38]
Chr13:52548165 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2510del (p.Gly837fs) |
deletion |
Wilson disease [RCV001381671] |
Chr13:51950337 [GRCh38]
Chr13:52524473 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2964G>T (p.Gly988=) |
single nucleotide variant |
Wilson disease [RCV001442776] |
Chr13:51946380 [GRCh38]
Chr13:52520516 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.828A>G (p.Glu276=) |
single nucleotide variant |
Wilson disease [RCV001431643] |
Chr13:51974392 [GRCh38]
Chr13:52548528 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.874T>C (p.Leu292=) |
single nucleotide variant |
Wilson disease [RCV001408618] |
Chr13:51974346 [GRCh38]
Chr13:52548482 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2286A>G (p.Thr762=) |
single nucleotide variant |
Wilson disease [RCV001408624] |
Chr13:51958380 [GRCh38]
Chr13:52532516 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1107_1108dup (p.Cys370fs) |
duplication |
Wilson disease [RCV001386786] |
Chr13:51974111..51974112 [GRCh38]
Chr13:52548247..52548248 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1044C>G (p.Ser348=) |
single nucleotide variant |
Wilson disease [RCV001445467] |
Chr13:51974176 [GRCh38]
Chr13:52548312 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3129C>G (p.Leu1043=) |
single nucleotide variant |
Wilson disease [RCV001445506] |
Chr13:51944223 [GRCh38]
Chr13:52518359 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3996C>T (p.Asn1332=) |
single nucleotide variant |
Wilson disease [RCV001419549] |
Chr13:51937301 [GRCh38]
Chr13:52511437 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-10dup |
duplication |
ATP7B-related disorder [RCV004751981]|Wilson disease [RCV001439149] |
Chr13:51941230..51941231 [GRCh38]
Chr13:52515366..52515367 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1708-4G>A |
single nucleotide variant |
Wilson disease [RCV001427271] |
Chr13:51965037 [GRCh38]
Chr13:52539173 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3904-6C>T |
single nucleotide variant |
Wilson disease [RCV001438185] |
Chr13:51937399 [GRCh38]
Chr13:52511535 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4308C>T (p.Asp1436=) |
single nucleotide variant |
Wilson disease [RCV001427479] |
Chr13:51934846 [GRCh38]
Chr13:52508982 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2433C>T (p.Asp811=) |
single nucleotide variant |
Wilson disease [RCV001448225] |
Chr13:51957530 [GRCh38]
Chr13:52531666 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1800C>T (p.Ala600=) |
single nucleotide variant |
Wilson disease [RCV001408911] |
Chr13:51964941 [GRCh38]
Chr13:52539077 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3412+7C>G |
single nucleotide variant |
Wilson disease [RCV001398971] |
Chr13:51942379 [GRCh38]
Chr13:52516515 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.123T>C (p.Asn41=) |
single nucleotide variant |
Wilson disease [RCV001440603] |
Chr13:51975097 [GRCh38]
Chr13:52549233 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3591T>C (p.Ala1197=) |
single nucleotide variant |
Wilson disease [RCV001432181] |
Chr13:51939159 [GRCh38]
Chr13:52513295 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1071A>G (p.Thr357=) |
single nucleotide variant |
Wilson disease [RCV001445827] |
Chr13:51974149 [GRCh38]
Chr13:52548285 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3858C>T (p.Thr1286=) |
single nucleotide variant |
Wilson disease [RCV001445834] |
Chr13:51937521 [GRCh38]
Chr13:52511657 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1164G>A (p.Gln388=) |
single nucleotide variant |
Wilson disease [RCV001409176] |
Chr13:51974056 [GRCh38]
Chr13:52548192 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2349G>A (p.Leu783=) |
single nucleotide variant |
Wilson disease [RCV001445865] |
Chr13:51958317 [GRCh38]
Chr13:52532453 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3975G>A (p.Leu1325=) |
single nucleotide variant |
Wilson disease [RCV001435275] |
Chr13:51937322 [GRCh38]
Chr13:52511458 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1285+8G>C |
single nucleotide variant |
Wilson disease [RCV001425927] |
Chr13:51973927 [GRCh38]
Chr13:52548063 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter) |
single nucleotide variant |
Wilson disease [RCV001385918] |
Chr13:51974073 [GRCh38]
Chr13:52548209 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2958C>T (p.Ser986=) |
single nucleotide variant |
Wilson disease [RCV001419668] |
Chr13:51946386 [GRCh38]
Chr13:52520522 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-9C>A |
single nucleotide variant |
Wilson disease [RCV001428540] |
Chr13:51935704 [GRCh38]
Chr13:52509840 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.462C>T (p.Cys154=) |
single nucleotide variant |
Wilson disease [RCV001406505] |
Chr13:51974758 [GRCh38]
Chr13:52548894 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-7C>T |
single nucleotide variant |
Wilson disease [RCV001411827] |
Chr13:51950168 [GRCh38]
Chr13:52524304 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.548C>T (p.Ala183Val) |
single nucleotide variant |
not provided [RCV001507828] |
Chr13:51974672 [GRCh38]
Chr13:52548808 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.276C>T (p.Ser92=) |
single nucleotide variant |
Wilson disease [RCV001494955] |
Chr13:51974944 [GRCh38]
Chr13:52549080 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3244-109C>T |
single nucleotide variant |
not provided [RCV001539688] |
Chr13:51942663 [GRCh38]
Chr13:52516799 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter) |
single nucleotide variant |
Wilson disease [RCV001729928]|not provided [RCV001508350] |
Chr13:51968474 [GRCh38]
Chr13:52542610 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3642G>A (p.Val1214=) |
single nucleotide variant |
Wilson disease [RCV001485862] |
Chr13:51939108 [GRCh38]
Chr13:52513244 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1602A>G (p.Pro534=) |
single nucleotide variant |
Wilson disease [RCV001472659] |
Chr13:51968549 [GRCh38]
Chr13:52542685 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3017G>A (p.Gly1006Asp) |
single nucleotide variant |
Wilson disease [RCV001882558]|not provided [RCV001508715] |
Chr13:51946327 [GRCh38]
Chr13:52520463 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4305C>T (p.Ser1435=) |
single nucleotide variant |
Wilson disease [RCV001495380] |
Chr13:51934849 [GRCh38]
Chr13:52508985 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3025A>G (p.Ile1009Val) |
single nucleotide variant |
not provided [RCV001508714] |
Chr13:51946319 [GRCh38]
Chr13:52520455 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2241C>T (p.Ile747=) |
single nucleotide variant |
Wilson disease [RCV001468675] |
Chr13:51958425 [GRCh38]
Chr13:52532561 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2355+10G>C |
single nucleotide variant |
Wilson disease [RCV001450807] |
Chr13:51958301 [GRCh38]
Chr13:52532437 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2970C>T (p.Ala990=) |
single nucleotide variant |
Wilson disease [RCV001464743] |
Chr13:51946374 [GRCh38]
Chr13:52520510 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1543+51G>A |
single nucleotide variant |
not provided [RCV001698721] |
Chr13:51970441 [GRCh38]
Chr13:52544577 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.2188dup (p.Asp730fs) |
duplication |
Wilson disease [RCV005094657]|not provided [RCV001509445] |
Chr13:51958477..51958478 [GRCh38]
Chr13:52532613..52532614 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1286-153C>T |
single nucleotide variant |
not provided [RCV001588755] |
Chr13:51970902 [GRCh38]
Chr13:52545038 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.78C>A (p.Thr26=) |
single nucleotide variant |
Wilson disease [RCV001496191] |
Chr13:51975142 [GRCh38]
Chr13:52549278 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1674C>T (p.Asp558=) |
single nucleotide variant |
Wilson disease [RCV001476190] |
Chr13:51968477 [GRCh38]
Chr13:52542613 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3798G>A (p.Gly1266=) |
single nucleotide variant |
Wilson disease [RCV001458005] |
Chr13:51937581 [GRCh38]
Chr13:52511717 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3471C>T (p.Asn1157=) |
single nucleotide variant |
Inborn genetic diseases [RCV002456812]|Wilson disease [RCV001469410] |
Chr13:51941166 [GRCh38]
Chr13:52515302 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4125-1G>T |
single nucleotide variant |
Wilson disease [RCV001506990] |
Chr13:51935030 [GRCh38]
Chr13:52509166 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter) |
single nucleotide variant |
Wilson disease [RCV001506991]|not provided [RCV003992531] |
Chr13:51935010 [GRCh38]
Chr13:52509146 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.122del (p.Asn41fs) |
deletion |
Wilson disease [RCV001506992] |
Chr13:51975098 [GRCh38]
Chr13:52549234 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.379del (p.Glu127fs) |
deletion |
Wilson disease [RCV001506993] |
Chr13:51974841 [GRCh38]
Chr13:52548977 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.560_561del (p.Tyr187fs) |
deletion |
Wilson disease [RCV001506994] |
Chr13:51974659..51974660 [GRCh38]
Chr13:52548795..52548796 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1136del (p.Gly379fs) |
deletion |
Wilson disease [RCV001506995] |
Chr13:51974084 [GRCh38]
Chr13:52548220 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1286-2A>G |
single nucleotide variant |
Wilson disease [RCV001506996] |
Chr13:51970751 [GRCh38]
Chr13:52544887 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1369C>T (p.Gln457Ter) |
single nucleotide variant |
Wilson disease [RCV001506997] |
Chr13:51970666 [GRCh38]
Chr13:52544802 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1869+5_1869+8del |
microsatellite |
Wilson disease [RCV001506998] |
Chr13:51964864..51964867 [GRCh38]
Chr13:52539000..52539003 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2506G>A (p.Gly836Arg) |
single nucleotide variant |
Wilson disease [RCV001506999] |
Chr13:51950341 [GRCh38]
Chr13:52524477 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2637_2650del (p.His880_Gly881insTer) |
deletion |
Wilson disease [RCV001507000] |
Chr13:51950087..51950100 [GRCh38]
Chr13:52524223..52524236 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3074T>A (p.Met1025Lys) |
single nucleotide variant |
Wilson disease [RCV001507001] |
Chr13:51944278 [GRCh38]
Chr13:52518414 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3316G>C (p.Val1106Leu) |
single nucleotide variant |
Wilson disease [RCV001507002] |
Chr13:51942482 [GRCh38]
Chr13:52516618 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3627_3632del (p.Gln1210_Ser1211del) |
deletion |
Wilson disease [RCV001507003] |
Chr13:51939118..51939123 [GRCh38]
Chr13:52513254..52513259 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr) |
single nucleotide variant |
Wilson disease [RCV001507004] |
Chr13:51937559 [GRCh38]
Chr13:52511695 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3845dup (p.Ala1283fs) |
duplication |
Wilson disease [RCV001507005] |
Chr13:51937533..51937534 [GRCh38]
Chr13:52511669..52511670 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1242_1243del (p.Arg414fs) |
microsatellite |
Wilson disease [RCV001507006] |
Chr13:51973977..51973978 [GRCh38]
Chr13:52548113..52548114 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3939T>C (p.Leu1313=) |
single nucleotide variant |
Wilson disease [RCV001496781] |
Chr13:51937358 [GRCh38]
Chr13:52511494 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1557G>A (p.Val519=) |
single nucleotide variant |
Wilson disease [RCV001496818] |
Chr13:51968594 [GRCh38]
Chr13:52542730 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1740del (p.His580fs) |
deletion |
Wilson disease [RCV001527073] |
Chr13:51965001 [GRCh38]
Chr13:52539137 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3201T>G (p.Ser1067Arg) |
single nucleotide variant |
Wilson disease [RCV001527076] |
Chr13:51944151 [GRCh38]
Chr13:52518287 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.745T>C (p.Leu249=) |
single nucleotide variant |
Wilson disease [RCV001499904] |
Chr13:51974475 [GRCh38]
Chr13:52548611 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4086C>G (p.Ser1362=) |
single nucleotide variant |
Wilson disease [RCV001459747] |
Chr13:51935631 [GRCh38]
Chr13:52509767 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3903+7G>A |
single nucleotide variant |
Wilson disease [RCV001483689] |
Chr13:51937469 [GRCh38]
Chr13:52511605 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1968C>T (p.Cys656=) |
single nucleotide variant |
Wilson disease [RCV001500761] |
Chr13:51960301 [GRCh38]
Chr13:52534437 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4338C>T (p.Asp1446=) |
single nucleotide variant |
Wilson disease [RCV001459840] |
Chr13:51934816 [GRCh38]
Chr13:52508952 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2946C>T (p.Ala982=) |
single nucleotide variant |
Wilson disease [RCV001477596] |
Chr13:51946398 [GRCh38]
Chr13:52520534 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2973G>T (p.Thr991=) |
single nucleotide variant |
Wilson disease [RCV001466968] |
Chr13:51946371 [GRCh38]
Chr13:52520507 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.52-7T>G |
single nucleotide variant |
Wilson disease [RCV001501228] |
Chr13:51975175 [GRCh38]
Chr13:52549311 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3456G>A (p.Glu1152=) |
single nucleotide variant |
Wilson disease [RCV001484505] |
Chr13:51941181 [GRCh38]
Chr13:52515317 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3303A>C (p.Gly1101=) |
single nucleotide variant |
Wilson disease [RCV001497970]|not provided [RCV004809648] |
Chr13:51942495 [GRCh38]
Chr13:52516631 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+135_4021+136del |
deletion |
not provided [RCV001665960] |
Chr13:51937140..51937141 [GRCh38]
Chr13:52511276..52511277 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1428A>C (p.Ala476=) |
single nucleotide variant |
Wilson disease [RCV001467445] |
Chr13:51970607 [GRCh38]
Chr13:52544743 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2325C>T (p.Ala775=) |
single nucleotide variant |
Wilson disease [RCV001498499] |
Chr13:51958341 [GRCh38]
Chr13:52532477 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2091C>A (p.Leu697=) |
single nucleotide variant |
Wilson disease [RCV001478402] |
Chr13:51960178 [GRCh38]
Chr13:52534314 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-8A>G |
single nucleotide variant |
Wilson disease [RCV001425327] |
Chr13:51950169 [GRCh38]
Chr13:52524305 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3783A>G (p.Lys1261=) |
single nucleotide variant |
Wilson disease [RCV001401174] |
Chr13:51937596 [GRCh38]
Chr13:52511732 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.582C>G (p.Pro194=) |
single nucleotide variant |
Wilson disease [RCV001439199] |
Chr13:51974638 [GRCh38]
Chr13:52548774 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1910A>G (p.Asn637Ser) |
single nucleotide variant |
Wilson disease [RCV001460044] |
Chr13:51961873 [GRCh38]
Chr13:52536009 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2835C>T (p.Ile945=) |
single nucleotide variant |
Wilson disease [RCV001469800] |
Chr13:51949692 [GRCh38]
Chr13:52523828 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2062A>T (p.Ile688Phe) |
single nucleotide variant |
Wilson disease [RCV004804206]|not provided [RCV001508346] |
Chr13:51960207 [GRCh38]
Chr13:52534343 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3904-2del |
deletion |
Wilson disease [RCV001381117] |
Chr13:51937395 [GRCh38]
Chr13:52511531 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3882A>G (p.Ala1294=) |
single nucleotide variant |
Wilson disease [RCV001479790] |
Chr13:51937497 [GRCh38]
Chr13:52511633 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1590C>A (p.Ile530=) |
single nucleotide variant |
Wilson disease [RCV001469996] |
Chr13:51968561 [GRCh38]
Chr13:52542697 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr) |
single nucleotide variant |
Wilson disease [RCV001473203] |
Chr13:51934992 [GRCh38]
Chr13:52509128 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2866-2A>C |
single nucleotide variant |
Wilson disease [RCV001384960] |
Chr13:51946480 [GRCh38]
Chr13:52520616 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3255A>G (p.Thr1085=) |
single nucleotide variant |
Wilson disease [RCV001425073] |
Chr13:51942543 [GRCh38]
Chr13:52516679 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.44del (p.Ser15fs) |
deletion |
Wilson disease [RCV001390638] |
Chr13:52011294 [GRCh38]
Chr13:52585430 [GRCh37]
Chr13:13q14.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3130C>T (p.Leu1044=) |
single nucleotide variant |
Wilson disease [RCV001495908] |
Chr13:51944222 [GRCh38]
Chr13:52518358 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.861T>C (p.Ser287=) |
single nucleotide variant |
Wilson disease [RCV001457011] |
Chr13:51974359 [GRCh38]
Chr13:52548495 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2952C>T (p.Pro984=) |
single nucleotide variant |
Wilson disease [RCV001470354] |
Chr13:51946392 [GRCh38]
Chr13:52520528 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2904C>T (p.Ile968=) |
single nucleotide variant |
Wilson disease [RCV001487792] |
Chr13:51946440 [GRCh38]
Chr13:52520576 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1926C>T (p.Asp642=) |
single nucleotide variant |
Wilson disease [RCV001477083] |
Chr13:51961857 [GRCh38]
Chr13:52535993 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2442C>A (p.Ile814=) |
single nucleotide variant |
Wilson disease [RCV001478466] |
Chr13:51957521 [GRCh38]
Chr13:52531657 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.873C>T (p.Ser291=) |
single nucleotide variant |
Wilson disease [RCV001501950] |
Chr13:51974347 [GRCh38]
Chr13:52548483 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2731-4A>C |
single nucleotide variant |
Wilson disease [RCV001459856] |
Chr13:51949800 [GRCh38]
Chr13:52523936 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2199C>T (p.Ile733=) |
single nucleotide variant |
Wilson disease [RCV001478677] |
Chr13:51958467 [GRCh38]
Chr13:52532603 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2905C>A (p.Arg969=) |
single nucleotide variant |
Wilson disease [RCV001431982] |
Chr13:51946439 [GRCh38]
Chr13:52520575 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1098C>T (p.Ala366=) |
single nucleotide variant |
Wilson disease [RCV001496329]|not provided [RCV003312001] |
Chr13:51974122 [GRCh38]
Chr13:52548258 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3738G>A (p.Ser1246=) |
single nucleotide variant |
Wilson disease [RCV001457728] |
Chr13:51937641 [GRCh38]
Chr13:52511777 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg) |
single nucleotide variant |
Wilson disease [RCV001506983] |
Chr13:51946285 [GRCh38]
Chr13:52520421 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1869+2T>C |
single nucleotide variant |
Wilson disease [RCV001506984] |
Chr13:51964870 [GRCh38]
Chr13:52539006 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1658C>A (p.Ala553Glu) |
single nucleotide variant |
Wilson disease [RCV001506985] |
Chr13:51968493 [GRCh38]
Chr13:52542629 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1705_1707+10del |
deletion |
Wilson disease [RCV001506986] |
Chr13:51968434..51968446 [GRCh38]
Chr13:52542570..52542582 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2356-2A>G |
single nucleotide variant |
Wilson disease [RCV001506987] |
Chr13:51957609 [GRCh38]
Chr13:52531745 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu) |
single nucleotide variant |
Wilson disease [RCV001506988] |
Chr13:51950340 [GRCh38]
Chr13:52524476 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr) |
single nucleotide variant |
Wilson disease [RCV001506989] |
Chr13:51941090 [GRCh38]
Chr13:52515226 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2337G>C (p.Trp779Cys) |
single nucleotide variant |
Wilson disease [RCV001527078] |
Chr13:51958329 [GRCh38]
Chr13:52532465 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4323C>T (p.His1441=) |
single nucleotide variant |
Wilson disease [RCV001442952] |
Chr13:51934831 [GRCh38]
Chr13:52508967 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=) |
single nucleotide variant |
Inborn genetic diseases [RCV002456742]|Wilson disease [RCV001443045] |
Chr13:51939105 [GRCh38]
Chr13:52513241 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2625G>A (p.Gly875=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439092]|Wilson disease [RCV001460935] |
Chr13:51950112 [GRCh38]
Chr13:52524248 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.459C>T (p.Thr153=) |
single nucleotide variant |
Inborn genetic diseases [RCV002334559]|Wilson disease [RCV001505169] |
Chr13:51974761 [GRCh38]
Chr13:52548897 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2379T>C (p.Ala793=) |
single nucleotide variant |
Wilson disease [RCV001478955] |
Chr13:51957584 [GRCh38]
Chr13:52531720 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg) |
single nucleotide variant |
Wilson disease [RCV001381921] |
Chr13:51944146 [GRCh38]
Chr13:52518282 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2682C>A (p.Thr894=) |
single nucleotide variant |
Wilson disease [RCV001406671] |
Chr13:51950055 [GRCh38]
Chr13:52524191 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3039G>A (p.Lys1013=) |
single nucleotide variant |
Wilson disease [RCV001498594] |
Chr13:51946305 [GRCh38]
Chr13:52520441 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1567T>C (p.Leu523=) |
single nucleotide variant |
ATP7B-related disorder [RCV003900652]|Inborn genetic diseases [RCV004968178]|Wilson disease [RCV001477985] |
Chr13:51968584 [GRCh38]
Chr13:52542720 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3945G>A (p.Lys1315=) |
single nucleotide variant |
Wilson disease [RCV001440612] |
Chr13:51937352 [GRCh38]
Chr13:52511488 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2211A>G (p.Thr737=) |
single nucleotide variant |
Wilson disease [RCV001443365] |
Chr13:51958455 [GRCh38]
Chr13:52532591 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1050G>A (p.Pro350=) |
single nucleotide variant |
Inborn genetic diseases [RCV004681175]|Wilson disease [RCV001432429]|not specified [RCV003479331] |
Chr13:51974170 [GRCh38]
Chr13:52548306 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1708-34G>A |
single nucleotide variant |
Wilson disease [RCV001527072] |
Chr13:51965067 [GRCh38]
Chr13:52539203 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3007G>C (p.Ala1003Pro) |
single nucleotide variant |
Wilson disease [RCV001527074] |
Chr13:51946337 [GRCh38]
Chr13:52520473 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2971A>G (p.Thr991Ala) |
single nucleotide variant |
Wilson disease [RCV001527077] |
Chr13:51946373 [GRCh38]
Chr13:52520509 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3708C>T (p.Ile1236=) |
single nucleotide variant |
Wilson disease [RCV001483458] |
Chr13:51937671 [GRCh38]
Chr13:52511807 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2706G>A (p.Leu902=) |
single nucleotide variant |
Wilson disease [RCV001400340] |
Chr13:51950031 [GRCh38]
Chr13:52524167 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3462G>A (p.Leu1154=) |
single nucleotide variant |
Wilson disease [RCV001420033] |
Chr13:51941175 [GRCh38]
Chr13:52515311 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NC_000013.10:g.(?_52585403)_(52602726_?)del |
deletion |
ALG11-congenital disorder of glycosylation [RCV001871995]|Wilson disease [RCV001386933] |
Chr13:52585403..52602726 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52548990)_52552030del |
deletion |
Wilson disease [RCV001386934] |
|
pathogenic |
| NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr) |
single nucleotide variant |
Wilson disease [RCV001389304]|not provided [RCV003481106] |
Chr13:51946315 [GRCh38]
Chr13:52520451 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4200C>G (p.Val1400=) |
single nucleotide variant |
Wilson disease [RCV001398235] |
Chr13:51934954 [GRCh38]
Chr13:52509090 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=) |
single nucleotide variant |
Inborn genetic diseases [RCV003160756]|Wilson disease [RCV001438661] |
Chr13:51939174 [GRCh38]
Chr13:52513310 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2916C>T (p.Phe972=) |
single nucleotide variant |
Wilson disease [RCV001456160] |
Chr13:51946428 [GRCh38]
Chr13:52520564 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr) |
single nucleotide variant |
Wilson disease [RCV001379176]|not provided [RCV001509443] |
Chr13:51950329 [GRCh38]
Chr13:52524465 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala) |
single nucleotide variant |
Wilson disease [RCV001377097] |
Chr13:51937517 [GRCh38]
Chr13:52511653 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2538G>A (p.Leu846=) |
single nucleotide variant |
Wilson disease [RCV001435273] |
Chr13:51950309 [GRCh38]
Chr13:52524445 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.465G>A (p.Gln155=) |
single nucleotide variant |
Wilson disease [RCV001424132] |
Chr13:51974755 [GRCh38]
Chr13:52548891 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3071_3072del (p.Val1024fs) |
microsatellite |
Wilson disease [RCV001380472] |
Chr13:51944280..51944281 [GRCh38]
Chr13:52518416..52518417 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.225C>T (p.Ser75=) |
single nucleotide variant |
Wilson disease [RCV001495082] |
Chr13:51974995 [GRCh38]
Chr13:52549131 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3132G>T (p.Leu1044=) |
single nucleotide variant |
Wilson disease [RCV001477060] |
Chr13:51944220 [GRCh38]
Chr13:52518356 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1878C>G (p.Gly626=) |
single nucleotide variant |
Wilson disease [RCV001459756] |
Chr13:51961905 [GRCh38]
Chr13:52536041 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.186C>T (p.Val62=) |
single nucleotide variant |
Wilson disease [RCV001426479] |
Chr13:51975034 [GRCh38]
Chr13:52549170 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3504T>A (p.Ala1168=) |
single nucleotide variant |
Wilson disease [RCV001401267] |
Chr13:51941133 [GRCh38]
Chr13:52515269 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.459C>A (p.Thr153=) |
single nucleotide variant |
Wilson disease [RCV001401335] |
Chr13:51974761 [GRCh38]
Chr13:52548897 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.909T>G (p.Pro303=) |
single nucleotide variant |
Inborn genetic diseases [RCV003160670]|Wilson disease [RCV001416875] |
Chr13:51974311 [GRCh38]
Chr13:52548447 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4080A>G (p.Ala1360=) |
single nucleotide variant |
Wilson disease [RCV001468271] |
Chr13:51935637 [GRCh38]
Chr13:52509773 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1946+1del |
deletion |
Wilson disease [RCV001377856] |
Chr13:51961836 [GRCh38]
Chr13:52535972 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| GRCh37/hg19 13q14.3(chr13:52548050-52549324) |
copy number loss |
Wilson disease [RCV001536051] |
Chr13:52548050..52549324 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3089G>A (p.Gly1030Asp) |
single nucleotide variant |
Wilson disease [RCV003502595]|not provided [RCV001508712] |
Chr13:51944263 [GRCh38]
Chr13:52518399 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.510A>C (p.Gly170=) |
single nucleotide variant |
Wilson disease [RCV001497421] |
Chr13:51974710 [GRCh38]
Chr13:52548846 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val) |
single nucleotide variant |
Wilson disease [RCV003094052]|not specified [RCV002247001] |
Chr13:51942457 [GRCh38]
Chr13:52516593 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1620C>G (p.Leu540=) |
single nucleotide variant |
Wilson disease [RCV003108536] |
Chr13:51968531 [GRCh38]
Chr13:52542667 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met) |
single nucleotide variant |
Wilson disease [RCV003108340] |
Chr13:51934967 [GRCh38]
Chr13:52509103 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.52dup (p.Ile18fs) |
duplication |
Wilson disease [RCV001730171] |
Chr13:51975167..51975168 [GRCh38]
Chr13:52549303..52549304 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3374G>T (p.Ser1125Ile) |
single nucleotide variant |
Wilson disease [RCV004807758] |
Chr13:51942424 [GRCh38]
Chr13:52516560 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3076T>C (p.Phe1026Leu) |
single nucleotide variant |
Wilson disease [RCV004807798] |
Chr13:51944276 [GRCh38]
Chr13:52518412 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2637A>G (p.Ala879=) |
single nucleotide variant |
Wilson disease [RCV004807883] |
Chr13:51950100 [GRCh38]
Chr13:52524236 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2567_2568insGATGGCTGATGAGTCCCT (p.Leu856_Ile857insMetAlaAspGluSerLeu) |
insertion |
Wilson disease [RCV004807918] |
Chr13:51950279..51950280 [GRCh38]
Chr13:52524415..52524416 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2293G>C (p.Asp765His) |
single nucleotide variant |
Wilson disease [RCV004807988] |
Chr13:51958373 [GRCh38]
Chr13:52532509 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2520A>G (p.Pro840=) |
single nucleotide variant |
Wilson disease [RCV004807924] |
Chr13:51950327 [GRCh38]
Chr13:52524463 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3899T>A (p.Ile1300Asn) |
single nucleotide variant |
Wilson disease [RCV004807596] |
Chr13:51937480 [GRCh38]
Chr13:52511616 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3847G>A (p.Ala1283Thr) |
single nucleotide variant |
Wilson disease [RCV004807606] |
Chr13:51937532 [GRCh38]
Chr13:52511668 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2865+6T>G |
single nucleotide variant |
Wilson disease [RCV002227382] |
Chr13:51949656 [GRCh38]
Chr13:52523792 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 |
copy number gain |
See cases [RCV001780076] |
Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34 |
pathogenic |
| NM_000053.4(ATP7B):c.3632G>A (p.Ser1211Asn) |
single nucleotide variant |
Wilson disease [RCV004009018]|not provided [RCV001761349] |
Chr13:51939118 [GRCh38]
Chr13:52513254 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3805dup (p.Val1269fs) |
duplication |
Wilson disease [RCV001780659] |
Chr13:51937573..51937574 [GRCh38]
Chr13:52511709..52511710 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del) |
deletion |
Wilson disease [RCV003317794] |
Chr13:51950014..51950040 [GRCh38]
Chr13:52524150..52524176 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val) |
single nucleotide variant |
Wilson disease [RCV002489762]|not provided [RCV001773980] |
Chr13:51939170 [GRCh38]
Chr13:52513306 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 |
copy number loss |
not provided [RCV001795546] |
Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31 |
pathogenic |
| NM_000053.4(ATP7B):c.3334_3335del (p.Ile1112fs) |
deletion |
Wilson disease [RCV001785941] |
Chr13:51942463..51942464 [GRCh38]
Chr13:52516599..52516600 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe) |
single nucleotide variant |
Wilson disease [RCV003609187]|not provided [RCV001768925] |
Chr13:51946420 [GRCh38]
Chr13:52520556 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.1187A>G (p.Glu396Gly) |
single nucleotide variant |
Wilson disease [RCV001868490]|not provided [RCV001767775] |
Chr13:51974033 [GRCh38]
Chr13:52548169 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2795C>G (p.Ser932Ter) |
single nucleotide variant |
Wilson disease [RCV001780667] |
Chr13:51949732 [GRCh38]
Chr13:52523868 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.632A>G (p.Lys211Arg) |
single nucleotide variant |
Wilson disease [RCV004008977]|not provided [RCV001754126] |
Chr13:51974588 [GRCh38]
Chr13:52548724 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) |
deletion |
Inborn genetic diseases [RCV002458620]|Wilson disease [RCV001810545]|not provided [RCV002261386]|not specified [RCV002300597] |
Chr13:51957570..51957572 [GRCh38]
Chr13:52531706..52531708 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.51+14C>T |
single nucleotide variant |
Wilson disease [RCV001802696] |
Chr13:52011273 [GRCh38]
Chr13:52585409 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-1G>C |
single nucleotide variant |
Wilson disease [RCV002545181]|not provided [RCV001817789] |
Chr13:51939194 [GRCh38]
Chr13:52513330 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter) |
single nucleotide variant |
Wilson disease [RCV002542703]|not provided [RCV001817790] |
Chr13:51950132 [GRCh38]
Chr13:52524268 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3748G>T (p.Ala1250Ser) |
single nucleotide variant |
Wilson disease [RCV004807632] |
Chr13:51937631 [GRCh38]
Chr13:52511767 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3698_3699insTTAAA (p.Gln1233delinsHisTer) |
insertion |
Wilson disease [RCV004807647] |
Chr13:51939051..51939052 [GRCh38]
Chr13:52513187..52513188 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3696_3697insTTAA (p.Gln1233fs) |
insertion |
Wilson disease [RCV004807650] |
Chr13:51939053..51939054 [GRCh38]
Chr13:52513189..52513190 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3594C>A (p.Val1198=) |
single nucleotide variant |
Wilson disease [RCV004807686] |
Chr13:51939156 [GRCh38]
Chr13:52513292 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557G>C (p.Gly1186Ala) |
single nucleotide variant |
Wilson disease [RCV004807702] |
Chr13:51939193 [GRCh38]
Chr13:52513329 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3556+5C>T |
single nucleotide variant |
Wilson disease [RCV004807704] |
Chr13:51941076 [GRCh38]
Chr13:52515212 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3500A>G (p.Asp1167Gly) |
single nucleotide variant |
Wilson disease [RCV004807720] |
Chr13:51941137 [GRCh38]
Chr13:52515273 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4013T>C (p.Ile1338Thr) |
single nucleotide variant |
Wilson disease [RCV004807564] |
Chr13:51937284 [GRCh38]
Chr13:52511420 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3109C>G (p.Pro1037Ala) |
single nucleotide variant |
Wilson disease [RCV004807791] |
Chr13:51944243 [GRCh38]
Chr13:52518379 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3934C>G (p.His1312Asp) |
single nucleotide variant |
Wilson disease [RCV004807588] |
Chr13:51937363 [GRCh38]
Chr13:52511499 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3692_3693insT (p.Thr1232fs) |
insertion |
Wilson disease [RCV004807661] |
Chr13:51939057..51939058 [GRCh38]
Chr13:52513193..52513194 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4322A>G (p.His1441Arg) |
single nucleotide variant |
Wilson disease [RCV004806978] |
Chr13:51934832 [GRCh38]
Chr13:52508968 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3472G>A (p.Gly1158Ser) |
single nucleotide variant |
Wilson disease [RCV004807726] |
Chr13:51941165 [GRCh38]
Chr13:52515301 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3209C>T (p.Pro1070Leu) |
single nucleotide variant |
Wilson disease [RCV004807774] |
Chr13:51944143 [GRCh38]
Chr13:52518279 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3244-9C>G |
single nucleotide variant |
Wilson disease [RCV004807771] |
Chr13:51942563 [GRCh38]
Chr13:52516699 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2790C>G (p.Ile930Met) |
single nucleotide variant |
Wilson disease [RCV004807858] |
Chr13:51949737 [GRCh38]
Chr13:52523873 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2638C>T (p.His880Tyr) |
single nucleotide variant |
Wilson disease [RCV004807880] |
Chr13:51950099 [GRCh38]
Chr13:52524235 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2622G>C (p.Ala874=) |
single nucleotide variant |
Wilson disease [RCV004807888] |
Chr13:51950115 [GRCh38]
Chr13:52524251 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-1G>C |
single nucleotide variant |
Wilson disease [RCV004807751] |
Chr13:51941225 [GRCh38]
Chr13:52515361 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2897T>G (p.Val966Gly) |
single nucleotide variant |
Wilson disease [RCV004807839] |
Chr13:51946447 [GRCh38]
Chr13:52520583 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2789T>C (p.Ile930Thr) |
single nucleotide variant |
Wilson disease [RCV004807861] |
Chr13:51949738 [GRCh38]
Chr13:52523874 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2596A>G (p.Lys866Glu) |
single nucleotide variant |
Wilson disease [RCV004807899] |
Chr13:51950141 [GRCh38]
Chr13:52524277 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2574A>G (p.Thr858=) |
single nucleotide variant |
Wilson disease [RCV004807906] |
Chr13:51950273 [GRCh38]
Chr13:52524409 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3944A>G (p.Lys1315Arg) |
single nucleotide variant |
Wilson disease [RCV004807582] |
Chr13:51937353 [GRCh38]
Chr13:52511489 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2259T>A (p.Ala753=) |
single nucleotide variant |
Wilson disease [RCV004808494] |
Chr13:51958407 [GRCh38]
Chr13:52532543 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2258C>G (p.Ala753Gly) |
single nucleotide variant |
Wilson disease [RCV004808499] |
Chr13:51958408 [GRCh38]
Chr13:52532544 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.372C>A (p.Ser124Arg) |
single nucleotide variant |
Wilson disease [RCV001810549] |
Chr13:51974848 [GRCh38]
Chr13:52548984 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2219C>T (p.Ala740Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002422967]|Wilson disease [RCV001895960] |
Chr13:51958447 [GRCh38]
Chr13:52532583 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.14_38del (p.Glu5fs) |
deletion |
Wilson disease [RCV001896180] |
Chr13:52011300..52011324 [GRCh38]
Chr13:52585436..52585460 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2140T>C (p.Phe714Leu) |
single nucleotide variant |
Wilson disease [RCV002045107] |
Chr13:51958526 [GRCh38]
Chr13:52532662 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1946+5G>A |
single nucleotide variant |
Wilson disease [RCV002025561] |
Chr13:51961832 [GRCh38]
Chr13:52535968 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2730+2T>C |
single nucleotide variant |
Wilson disease [RCV002025718] |
Chr13:51950005 [GRCh38]
Chr13:52524141 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.127G>A (p.Gly43Ser) |
single nucleotide variant |
Wilson disease [RCV001971548] |
Chr13:51975093 [GRCh38]
Chr13:52549229 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3899T>C (p.Ile1300Thr) |
single nucleotide variant |
Wilson disease [RCV002025240] |
Chr13:51937480 [GRCh38]
Chr13:52511616 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3412+15T>A |
single nucleotide variant |
Wilson disease [RCV001896915] |
Chr13:51942371 [GRCh38]
Chr13:52516507 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1869+4A>T |
single nucleotide variant |
Wilson disease [RCV001968457] |
Chr13:51964868 [GRCh38]
Chr13:52539004 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3106G>T (p.Val1036Phe) |
single nucleotide variant |
Wilson disease [RCV002008539] |
Chr13:51944246 [GRCh38]
Chr13:52518382 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2303C>G (p.Pro768Arg) |
single nucleotide variant |
Wilson disease [RCV001985854] |
Chr13:51958363 [GRCh38]
Chr13:52532499 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn) |
single nucleotide variant |
Wilson disease [RCV002008788] |
Chr13:51950362 [GRCh38]
Chr13:52524498 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.829G>C (p.Glu277Gln) |
single nucleotide variant |
Wilson disease [RCV002044118] |
Chr13:51974391 [GRCh38]
Chr13:52548527 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.951_982dup (p.Pro328fs) |
duplication |
Wilson disease [RCV001970041] |
Chr13:51974237..51974238 [GRCh38]
Chr13:52548373..52548374 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1666A>G (p.Met556Val) |
single nucleotide variant |
Wilson disease [RCV001928574] |
Chr13:51968485 [GRCh38]
Chr13:52542621 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3183G>T (p.Gly1061=) |
single nucleotide variant |
Wilson disease [RCV001949813] |
Chr13:51944169 [GRCh38]
Chr13:52518305 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.2121+3A>T |
single nucleotide variant |
Wilson disease [RCV001970185] |
Chr13:51960145 [GRCh38]
Chr13:52534281 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) |
copy number loss |
not specified [RCV002053048] |
Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31 |
pathogenic |
| NM_000053.4(ATP7B):c.3693_3694insCTGGTACATTA (p.Thr1232delinsLeuValHisTer) |
insertion |
Wilson disease [RCV001988048] |
Chr13:51939056..51939057 [GRCh38]
Chr13:52513192..52513193 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) |
copy number loss |
not specified [RCV002053058] |
Chr13:44573371..53324137 [GRCh37]
Chr13:13q14.11-14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2341G>A (p.Glu781Lys) |
single nucleotide variant |
Wilson disease [RCV001987854] |
Chr13:51958325 [GRCh38]
Chr13:52532461 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs) |
microsatellite |
Wilson disease [RCV001914818] |
Chr13:51939189..51939190 [GRCh38]
Chr13:52513325..52513326 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4022G>T (p.Gly1341Val) |
single nucleotide variant |
Wilson disease [RCV002009173] |
Chr13:51935695 [GRCh38]
Chr13:52509831 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3183del (p.Thr1062fs) |
deletion |
Wilson disease [RCV001890744] |
Chr13:51944169 [GRCh38]
Chr13:52518305 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436286-114981726) |
copy number gain |
not specified [RCV002053035] |
Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln) |
single nucleotide variant |
Wilson disease [RCV002003729] |
Chr13:51974723 [GRCh38]
Chr13:52548859 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2837A>T (p.Asp946Val) |
single nucleotide variant |
Wilson disease [RCV001823474] |
Chr13:51949690 [GRCh38]
Chr13:52523826 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1963del (p.Leu655fs) |
deletion |
Wilson disease [RCV001946784] |
Chr13:51960306 [GRCh38]
Chr13:52534442 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln) |
single nucleotide variant |
Wilson disease [RCV001891868] |
Chr13:51950367 [GRCh38]
Chr13:52524503 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2328G>A (p.Leu776=) |
single nucleotide variant |
Wilson disease [RCV002022486] |
Chr13:51958338 [GRCh38]
Chr13:52532474 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) |
single nucleotide variant |
Wilson disease [RCV003502610]|not specified [RCV001844588] |
Chr13:51946303 [GRCh38]
Chr13:52520439 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu) |
single nucleotide variant |
Wilson disease [RCV001984040] |
Chr13:51958371 [GRCh38]
Chr13:52532507 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3660G>A (p.Thr1220=) |
single nucleotide variant |
Wilson disease [RCV001984047]|not provided [RCV003156369] |
Chr13:51939090 [GRCh38]
Chr13:52513226 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 |
copy number gain |
not provided [RCV001829235] |
Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2588del (p.Pro863fs) |
deletion |
Wilson disease [RCV001984737] |
Chr13:51950149 [GRCh38]
Chr13:52524285 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe) |
single nucleotide variant |
Wilson disease [RCV001965665]|not specified [RCV002300636] |
Chr13:51974750 [GRCh38]
Chr13:52548886 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3691del (p.Ala1231fs) |
deletion |
Wilson disease [RCV001926861] |
Chr13:51939059 [GRCh38]
Chr13:52513195 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1543+15C>G |
single nucleotide variant |
Wilson disease [RCV003772348]|not specified [RCV001825125] |
Chr13:51970477 [GRCh38]
Chr13:52544613 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3883_3890del (p.Ala1295fs) |
deletion |
Wilson disease [RCV001982927] |
Chr13:51937489..51937496 [GRCh38]
Chr13:52511625..52511632 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.413_422del (p.Leu138fs) |
deletion |
Wilson disease [RCV001913656] |
Chr13:51974798..51974807 [GRCh38]
Chr13:52548934..52548943 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg) |
single nucleotide variant |
Wilson disease [RCV001852911] |
Chr13:51941111 [GRCh38]
Chr13:52515247 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.946G>A (p.Glu316Lys) |
single nucleotide variant |
Wilson disease [RCV002024365] |
Chr13:51974274 [GRCh38]
Chr13:52548410 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1058A>G (p.Gln353Arg) |
single nucleotide variant |
Wilson disease [RCV001911411] |
Chr13:51974162 [GRCh38]
Chr13:52548298 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.111T>A (p.Phe37Leu) |
single nucleotide variant |
Wilson disease [RCV001913996] |
Chr13:51975109 [GRCh38]
Chr13:52549245 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4022-3C>T |
single nucleotide variant |
Wilson disease [RCV001891457] |
Chr13:51935698 [GRCh38]
Chr13:52509834 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000013.10:g.(?_52538988)_(52585473_?)dup |
duplication |
Wilson disease [RCV001872628] |
Chr13:52538988..52585473 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1870-5A>G |
single nucleotide variant |
Wilson disease [RCV002024422] |
Chr13:51961918 [GRCh38]
Chr13:52536054 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1153G>C (p.Glu385Gln) |
single nucleotide variant |
Wilson disease [RCV001966467] |
Chr13:51974067 [GRCh38]
Chr13:52548203 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3055C>A (p.His1019Asn) |
single nucleotide variant |
Wilson disease [RCV001891710] |
Chr13:51946289 [GRCh38]
Chr13:52520425 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.887C>T (p.Thr296Ile) |
single nucleotide variant |
Wilson disease [RCV004802443] |
Chr13:51974333 [GRCh38]
Chr13:52548469 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.789A>G (p.Ile263Met) |
single nucleotide variant |
Wilson disease [RCV001969219] |
Chr13:51974431 [GRCh38]
Chr13:52548567 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) |
copy number loss |
not specified [RCV002053057] |
Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3 |
pathogenic |
| NM_000053.4(ATP7B):c.603A>G (p.Val201=) |
single nucleotide variant |
Wilson disease [RCV004802490] |
Chr13:51974617 [GRCh38]
Chr13:52548753 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3841G>T (p.Gly1281Cys) |
single nucleotide variant |
Wilson disease [RCV001909308] |
Chr13:51937538 [GRCh38]
Chr13:52511674 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4114C>G (p.Gln1372Glu) |
single nucleotide variant |
Wilson disease [RCV001967227] |
Chr13:51935603 [GRCh38]
Chr13:52509739 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2121+19G>T |
single nucleotide variant |
Wilson disease [RCV001909338] |
Chr13:51960129 [GRCh38]
Chr13:52534265 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.994G>A (p.Glu332Lys) |
single nucleotide variant |
Wilson disease [RCV001910617]|not provided [RCV003395287] |
Chr13:51974226 [GRCh38]
Chr13:52548362 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002548851]|Wilson disease [RCV002023924]|not provided [RCV002509746] |
Chr13:51950075 [GRCh38]
Chr13:52524211 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2349G>C (p.Leu783Phe) |
single nucleotide variant |
Wilson disease [RCV002007089] |
Chr13:51958317 [GRCh38]
Chr13:52532453 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) |
copy number loss |
not specified [RCV002053052] |
Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733) |
copy number gain |
not specified [RCV002053036] |
Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.560_561insCT (p.Gln188fs) |
insertion |
Wilson disease [RCV002002117] |
Chr13:51974659..51974660 [GRCh38]
Chr13:52548795..52548796 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2724G>A (p.Met908Ile) |
single nucleotide variant |
Wilson disease [RCV001945407] |
Chr13:51950013 [GRCh38]
Chr13:52524149 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV001834436] |
Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.2121+1G>A |
single nucleotide variant |
Wilson disease [RCV001823703] |
Chr13:51960147 [GRCh38]
Chr13:52534283 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg) |
single nucleotide variant |
Wilson disease [RCV001943894] |
Chr13:51964921 [GRCh38]
Chr13:52539057 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1782T>C (p.Tyr594=) |
single nucleotide variant |
Wilson disease [RCV002037793] |
Chr13:51964959 [GRCh38]
Chr13:52539095 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4327G>T (p.Ala1443Ser) |
single nucleotide variant |
Wilson disease [RCV001897787] |
Chr13:51934827 [GRCh38]
Chr13:52508963 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4045G>C (p.Val1349Leu) |
single nucleotide variant |
Wilson disease [RCV002037041] |
Chr13:51935672 [GRCh38]
Chr13:52509808 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.703C>G (p.Pro235Ala) |
single nucleotide variant |
Wilson disease [RCV002038877] |
Chr13:51974517 [GRCh38]
Chr13:52548653 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3061-1G>A |
single nucleotide variant |
Wilson disease [RCV002037652] |
Chr13:51944292 [GRCh38]
Chr13:52518428 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3280T>C (p.Phe1094Leu) |
single nucleotide variant |
Wilson disease [RCV001886445] |
Chr13:51942518 [GRCh38]
Chr13:52516654 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.671T>C (p.Ile224Thr) |
single nucleotide variant |
Wilson disease [RCV001916678] |
Chr13:51974549 [GRCh38]
Chr13:52548685 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3584C>T (p.Ala1195Val) |
single nucleotide variant |
Wilson disease [RCV002018502] |
Chr13:51939166 [GRCh38]
Chr13:52513302 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter) |
single nucleotide variant |
Wilson disease [RCV001999923] |
Chr13:51970696 [GRCh38]
Chr13:52544832 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1233A>C (p.Glu411Asp) |
single nucleotide variant |
Wilson disease [RCV002020265] |
Chr13:51973987 [GRCh38]
Chr13:52548123 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1174del (p.Val392fs) |
deletion |
Wilson disease [RCV001961858] |
Chr13:51974046 [GRCh38]
Chr13:52548182 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3216C>T (p.Gly1072=) |
single nucleotide variant |
Inborn genetic diseases [RCV004970739]|Wilson disease [RCV002028602] |
Chr13:51944136 [GRCh38]
Chr13:52518272 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1436C>A (p.Pro479Gln) |
single nucleotide variant |
Wilson disease [RCV001887810] |
Chr13:51970599 [GRCh38]
Chr13:52544735 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3334A>T (p.Ile1112Phe) |
single nucleotide variant |
Wilson disease [RCV001937379] |
Chr13:51942464 [GRCh38]
Chr13:52516600 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys) |
single nucleotide variant |
Wilson disease [RCV001943379]|not provided [RCV003481183]|not specified [RCV002246591] |
Chr13:51937333 [GRCh38]
Chr13:52511469 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.797T>A (p.Met266Lys) |
single nucleotide variant |
Wilson disease [RCV002038301] |
Chr13:51974423 [GRCh38]
Chr13:52548559 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3835_3862dup (p.Thr1288fs) |
duplication |
Wilson disease [RCV001886417] |
Chr13:51937516..51937517 [GRCh38]
Chr13:52511652..52511653 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1707+1G>A |
single nucleotide variant |
Wilson disease [RCV002030308] |
Chr13:51968443 [GRCh38]
Chr13:52542579 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.404C>G (p.Ser135Ter) |
single nucleotide variant |
Wilson disease [RCV001942120] |
Chr13:51974816 [GRCh38]
Chr13:52548952 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2871del (p.Asn958fs) |
deletion |
Wilson disease [RCV002037931]|not provided [RCV004784020] |
Chr13:51946473 [GRCh38]
Chr13:52520609 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1543+1G>C |
single nucleotide variant |
Wilson disease [RCV002037934] |
Chr13:51970491 [GRCh38]
Chr13:52544627 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1869G>A (p.Glu623=) |
single nucleotide variant |
Wilson disease [RCV002029068] |
Chr13:51964872 [GRCh38]
Chr13:52539008 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.10:g.(?_52544712)_(52545071_?)del |
deletion |
Wilson disease [RCV002037460] |
Chr13:52544712..52545071 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NC_000013.10:g.(?_52511412)_(52513329_?)del |
deletion |
Wilson disease [RCV002037454] |
Chr13:52511412..52513329 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.995_998dup (p.Ser334fs) |
duplication |
Wilson disease [RCV001941665] |
Chr13:51974221..51974222 [GRCh38]
Chr13:52548357..52548358 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.11:g.52011797C>T |
single nucleotide variant |
Wilson disease [RCV001877118] |
Chr13:52011797 [GRCh38]
Chr13:52585933 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2224G>A (p.Val742Ile) |
single nucleotide variant |
Wilson disease [RCV002038785] |
Chr13:51958442 [GRCh38]
Chr13:52532578 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg) |
single nucleotide variant |
Wilson disease [RCV001980135] |
Chr13:51946346 [GRCh38]
Chr13:52520482 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002543465]|Wilson disease [RCV002037549]|not specified [RCV002282614] |
Chr13:51935647 [GRCh38]
Chr13:52509783 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3619C>T (p.His1207Tyr) |
single nucleotide variant |
Wilson disease [RCV001887603] |
Chr13:51939131 [GRCh38]
Chr13:52513267 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly) |
single nucleotide variant |
Wilson disease [RCV002038013] |
Chr13:51937339 [GRCh38]
Chr13:52511475 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala) |
single nucleotide variant |
Wilson disease [RCV002038029] |
Chr13:51941200 [GRCh38]
Chr13:52515336 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1649del (p.Gly550fs) |
deletion |
Wilson disease [RCV001938636] |
Chr13:51968502 [GRCh38]
Chr13:52542638 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2622_2643del (p.Gly875fs) |
deletion |
Wilson disease [RCV001916362] |
Chr13:51950094..51950115 [GRCh38]
Chr13:52524230..52524251 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1933A>T (p.Met645Leu) |
single nucleotide variant |
Wilson disease [RCV001930997] |
Chr13:51961850 [GRCh38]
Chr13:52535986 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2892del (p.Glu965fs) |
deletion |
Wilson disease [RCV001902514] |
Chr13:51946452 [GRCh38]
Chr13:52520588 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2323G>T (p.Ala775Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002579519]|Wilson disease [RCV001976646] |
Chr13:51958343 [GRCh38]
Chr13:52532479 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val) |
single nucleotide variant |
Wilson disease [RCV001991118] |
Chr13:51935642 [GRCh38]
Chr13:52509778 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys) |
single nucleotide variant |
Wilson disease [RCV001920685] |
Chr13:51974034 [GRCh38]
Chr13:52548170 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1544-1G>A |
single nucleotide variant |
Wilson disease [RCV001995668] |
Chr13:51968608 [GRCh38]
Chr13:52542744 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1552T>C (p.Ser518Pro) |
single nucleotide variant |
Wilson disease [RCV001876366] |
Chr13:51968599 [GRCh38]
Chr13:52542735 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1258A>G (p.Met420Val) |
single nucleotide variant |
Wilson disease [RCV001933959] |
Chr13:51973962 [GRCh38]
Chr13:52548098 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.613G>A (p.Gly205Arg) |
single nucleotide variant |
Wilson disease [RCV001901968] |
Chr13:51974607 [GRCh38]
Chr13:52548743 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1537G>T (p.Glu513Ter) |
single nucleotide variant |
Wilson disease [RCV001902199] |
Chr13:51970498 [GRCh38]
Chr13:52544634 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1828C>T (p.Pro610Ser) |
single nucleotide variant |
Wilson disease [RCV001991469] |
Chr13:51964913 [GRCh38]
Chr13:52539049 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg) |
single nucleotide variant |
Wilson disease [RCV001991571] |
Chr13:51958366 [GRCh38]
Chr13:52532502 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2448G>T (p.Arg816Ser) |
single nucleotide variant |
Wilson disease [RCV001950954] |
Chr13:51950399 [GRCh38]
Chr13:52524535 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4288C>A (p.Leu1430Met) |
single nucleotide variant |
Wilson disease [RCV001930360] |
Chr13:51934866 [GRCh38]
Chr13:52509002 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3304A>T (p.Ile1102Phe) |
single nucleotide variant |
Wilson disease [RCV001995872] |
Chr13:51942494 [GRCh38]
Chr13:52516630 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.528del (p.Ser177fs) |
deletion |
Wilson disease [RCV001864857] |
Chr13:51974692 [GRCh38]
Chr13:52548828 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.561_563del (p.Tyr187_Gln188delinsTer) |
deletion |
Wilson disease [RCV001950964] |
Chr13:51974657..51974659 [GRCh38]
Chr13:52548793..52548795 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs) |
insertion |
Wilson disease [RCV001951074] |
Chr13:51975115..51975116 [GRCh38]
Chr13:52549251..52549252 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3484T>C (p.Ser1162Pro) |
single nucleotide variant |
Wilson disease [RCV001903447] |
Chr13:51941153 [GRCh38]
Chr13:52515289 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1648G>A (p.Gly550Ser) |
single nucleotide variant |
Wilson disease [RCV001898637] |
Chr13:51968503 [GRCh38]
Chr13:52542639 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro) |
single nucleotide variant |
Wilson disease [RCV001918555] |
Chr13:51944182 [GRCh38]
Chr13:52518318 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu) |
single nucleotide variant |
Wilson disease [RCV001951314] |
Chr13:51942516 [GRCh38]
Chr13:52516652 [GRCh37]
Chr13:13q14.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1947-1G>C |
single nucleotide variant |
Wilson disease [RCV002029202] |
Chr13:51960323 [GRCh38]
Chr13:52534459 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2731-1G>A |
single nucleotide variant |
Wilson disease [RCV001972470] |
Chr13:51949797 [GRCh38]
Chr13:52523933 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2122-1G>C |
single nucleotide variant |
Wilson disease [RCV001976500] |
Chr13:51958545 [GRCh38]
Chr13:52532681 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1870_1871del (p.Glu624fs) |
deletion |
Wilson disease [RCV001975006] |
Chr13:51961912..51961913 [GRCh38]
Chr13:52536048..52536049 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.879G>T (p.Glu293Asp) |
single nucleotide variant |
Wilson disease [RCV002033640] |
Chr13:51974341 [GRCh38]
Chr13:52548477 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.665T>C (p.Ile222Thr) |
single nucleotide variant |
Wilson disease [RCV001883759] |
Chr13:51974555 [GRCh38]
Chr13:52548691 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004041821]|Wilson disease [RCV001936046] |
Chr13:51960305 [GRCh38]
Chr13:52534441 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.10:g.(?_52520410)_(52524545_?)del |
deletion |
Wilson disease [RCV001959160] |
Chr13:52520410..52524545 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter) |
single nucleotide variant |
Wilson disease [RCV001951859] |
Chr13:51937607 [GRCh38]
Chr13:52511743 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu) |
single nucleotide variant |
Wilson disease [RCV002019460] |
Chr13:51939062 [GRCh38]
Chr13:52513198 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1770dup (p.Gly591fs) |
duplication |
Wilson disease [RCV001954502] |
Chr13:51964970..51964971 [GRCh38]
Chr13:52539106..52539107 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) |
single nucleotide variant |
Wilson disease [RCV001994832]|not specified [RCV002282667] |
Chr13:51958483 [GRCh38]
Chr13:52532619 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.368_369insTTCGAAGC (p.Ile125fs) |
insertion |
Wilson disease [RCV004547296] |
Chr13:51974851..51974852 [GRCh38]
Chr13:52548987..52548988 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4391A>C (p.Tyr1464Ser) |
single nucleotide variant |
Wilson disease [RCV001981334] |
Chr13:51934763 [GRCh38]
Chr13:52508899 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4268G>A (p.Ser1423Asn) |
single nucleotide variant |
Wilson disease [RCV001981904] |
Chr13:51934886 [GRCh38]
Chr13:52509022 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3204A>G (p.Glu1068=) |
single nucleotide variant |
Wilson disease [RCV002017265] |
Chr13:51944148 [GRCh38]
Chr13:52518284 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004043230]|Wilson disease [RCV001998989] |
Chr13:51934868 [GRCh38]
Chr13:52509004 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.721C>T (p.Gln241Ter) |
single nucleotide variant |
Wilson disease [RCV001899589] |
Chr13:51974499 [GRCh38]
Chr13:52548635 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3845T>C (p.Val1282Ala) |
single nucleotide variant |
Wilson disease [RCV001922802] |
Chr13:51937534 [GRCh38]
Chr13:52511670 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs) |
microsatellite |
Wilson disease [RCV001950947]|not provided [RCV004793655] |
Chr13:51937636..51937637 [GRCh38]
Chr13:52511772..52511773 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3664dup (p.Asp1222fs) |
duplication |
Wilson disease [RCV001932967] |
Chr13:51939085..51939086 [GRCh38]
Chr13:52513221..52513222 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4124+6T>C |
single nucleotide variant |
Wilson disease [RCV001992900] |
Chr13:51935587 [GRCh38]
Chr13:52509723 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.443G>A (p.Arg148Gln) |
single nucleotide variant |
Wilson disease [RCV001934347] |
Chr13:51974777 [GRCh38]
Chr13:52548913 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1291T>G (p.Cys431Gly) |
single nucleotide variant |
Wilson disease [RCV001930379] |
Chr13:51970744 [GRCh38]
Chr13:52544880 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter) |
single nucleotide variant |
Wilson disease [RCV001951049] |
Chr13:51934959 [GRCh38]
Chr13:52509095 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2020C>A (p.Pro674Thr) |
single nucleotide variant |
Wilson disease [RCV002026362] |
Chr13:51960249 [GRCh38]
Chr13:52534385 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4258dup (p.Asp1420fs) |
duplication |
Wilson disease [RCV001993158] |
Chr13:51934895..51934896 [GRCh38]
Chr13:52509031..52509032 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1286-1G>T |
single nucleotide variant |
Wilson disease [RCV002012409] |
Chr13:51970750 [GRCh38]
Chr13:52544886 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2046G>C (p.Met682Ile) |
single nucleotide variant |
Wilson disease [RCV001935725] |
Chr13:51960223 [GRCh38]
Chr13:52534359 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.20A>G (p.Gln7Arg) |
single nucleotide variant |
Wilson disease [RCV001920007] |
Chr13:52011318 [GRCh38]
Chr13:52585454 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1101C>T (p.Gly367=) |
single nucleotide variant |
Wilson disease [RCV001958284] |
Chr13:51974119 [GRCh38]
Chr13:52548255 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002454317]|Wilson disease [RCV002034064] |
Chr13:51949795 [GRCh38]
Chr13:52523931 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3270C>G (p.Tyr1090Ter) |
single nucleotide variant |
Wilson disease [RCV001951276] |
Chr13:51942528 [GRCh38]
Chr13:52516664 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln) |
single nucleotide variant |
Wilson disease [RCV001956421]|not provided [RCV002261432] |
Chr13:51937638 [GRCh38]
Chr13:52511774 [GRCh37]
Chr13:13q14.3 |
pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.1324G>T (p.Gly442Trp) |
single nucleotide variant |
Wilson disease [RCV001906792] |
Chr13:51970711 [GRCh38]
Chr13:52544847 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.10:g.(?_51484193)_(52602746_?)dup |
duplication |
Aicardi-Goutieres syndrome 2 [RCV001952813] |
Chr13:51484193..52602746 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3143T>A (p.Val1048Glu) |
single nucleotide variant |
Wilson disease [RCV001881982] |
Chr13:51944209 [GRCh38]
Chr13:52518345 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu) |
single nucleotide variant |
Wilson disease [RCV001976510] |
Chr13:51958534 [GRCh38]
Chr13:52532670 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1741A>T (p.Asn581Tyr) |
single nucleotide variant |
Wilson disease [RCV001978423]|not provided [RCV002286867] |
Chr13:51965000 [GRCh38]
Chr13:52539136 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1082C>T (p.Thr361Ile) |
single nucleotide variant |
Wilson disease [RCV001923592] |
Chr13:51974138 [GRCh38]
Chr13:52548274 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val) |
single nucleotide variant |
Wilson disease [RCV001994196] |
Chr13:51958346 [GRCh38]
Chr13:52532482 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.10:g.(?_52542570)_(52549314_?)del |
deletion |
Wilson disease [RCV001958999] |
Chr13:52542570..52549314 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52524279)_(52524855_?)del |
deletion |
Wilson disease [RCV001959000] |
Chr13:52524279..52524855 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2447+1G>A |
single nucleotide variant |
Wilson disease [RCV001939532] |
Chr13:51957515 [GRCh38]
Chr13:52531651 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3160A>G (p.Arg1054Gly) |
single nucleotide variant |
Wilson disease [RCV002034165] |
Chr13:51944192 [GRCh38]
Chr13:52518328 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1869+18_1869+20del |
deletion |
Wilson disease [RCV001997051] |
Chr13:51964852..51964854 [GRCh38]
Chr13:52538988..52538990 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.923C>T (p.Pro308Leu) |
single nucleotide variant |
Wilson disease [RCV002017865] |
Chr13:51974297 [GRCh38]
Chr13:52548433 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3237T>G (p.Cys1079Trp) |
single nucleotide variant |
Wilson disease [RCV001960318] |
Chr13:51944115 [GRCh38]
Chr13:52518251 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1873A>G (p.Ile625Val) |
single nucleotide variant |
Wilson disease [RCV001939713]|not provided [RCV002261412] |
Chr13:51961910 [GRCh38]
Chr13:52536046 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002441097]|Wilson disease [RCV001997260] |
Chr13:51949720 [GRCh38]
Chr13:52523856 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1100del (p.Gly367fs) |
deletion |
Wilson disease [RCV001939721] |
Chr13:51974120 [GRCh38]
Chr13:52548256 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2906G>C (p.Arg969Pro) |
single nucleotide variant |
Wilson disease [RCV002036164] |
Chr13:51946438 [GRCh38]
Chr13:52520574 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3668_3674del (p.Asn1223fs) |
deletion |
Wilson disease [RCV001958740] |
Chr13:51939076..51939082 [GRCh38]
Chr13:52513212..52513218 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2641G>A (p.Gly881Ser) |
single nucleotide variant |
Wilson disease [RCV002035678] |
Chr13:51950096 [GRCh38]
Chr13:52524232 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.157C>T (p.Pro53Ser) |
single nucleotide variant |
Wilson disease [RCV002036246] |
Chr13:51975063 [GRCh38]
Chr13:52549199 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs) |
duplication |
Wilson disease [RCV001935723] |
Chr13:51937332..51937333 [GRCh38]
Chr13:52511468..52511469 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) |
single nucleotide variant |
Wilson disease [RCV002019163] |
Chr13:51937338 [GRCh38]
Chr13:52511474 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala) |
single nucleotide variant |
Wilson disease [RCV002019924] |
Chr13:51950275 [GRCh38]
Chr13:52524411 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3980T>C (p.Leu1327Pro) |
single nucleotide variant |
Wilson disease [RCV001916867] |
Chr13:51937317 [GRCh38]
Chr13:52511453 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3153G>A (p.Leu1051=) |
single nucleotide variant |
Wilson disease [RCV001955672] |
Chr13:51944199 [GRCh38]
Chr13:52518335 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2114T>G (p.Phe705Cys) |
single nucleotide variant |
Wilson disease [RCV001935940] |
Chr13:51960155 [GRCh38]
Chr13:52534291 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro) |
single nucleotide variant |
Wilson disease [RCV001937418] |
Chr13:51974193 [GRCh38]
Chr13:52548329 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3860G>A (p.Gly1287Asp) |
single nucleotide variant |
Wilson disease [RCV002048204] |
Chr13:51937519 [GRCh38]
Chr13:52511655 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg) |
single nucleotide variant |
Wilson disease [RCV002012660]|not specified [RCV003226522] |
Chr13:51935660 [GRCh38]
Chr13:52509796 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1493C>T (p.Thr498Ile) |
single nucleotide variant |
Wilson disease [RCV001996052] |
Chr13:51970542 [GRCh38]
Chr13:52544678 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.911C>T (p.Ser304Phe) |
single nucleotide variant |
Wilson disease [RCV001876889] |
Chr13:51974309 [GRCh38]
Chr13:52548445 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn) |
single nucleotide variant |
Wilson disease [RCV001881506]|not provided [RCV002261405] |
Chr13:51949765 [GRCh38]
Chr13:52523901 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu) |
single nucleotide variant |
Wilson disease [RCV001989496] |
Chr13:51942516 [GRCh38]
Chr13:52516652 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys) |
single nucleotide variant |
Wilson disease [RCV001916111] |
Chr13:51949710 [GRCh38]
Chr13:52523846 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu) |
single nucleotide variant |
ATP7B-related disorder [RCV003923417]|Wilson disease [RCV002032183] |
Chr13:51950131 [GRCh38]
Chr13:52524267 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3244-1G>A |
single nucleotide variant |
Wilson disease [RCV001933665] |
Chr13:51942555 [GRCh38]
Chr13:52516691 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3520A>G (p.Met1174Val) |
single nucleotide variant |
Wilson disease [RCV001920029] |
Chr13:51941117 [GRCh38]
Chr13:52515253 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3150A>G (p.Thr1050=) |
single nucleotide variant |
Wilson disease [RCV002110290] |
Chr13:51944202 [GRCh38]
Chr13:52518338 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1374A>G (p.Glu458=) |
single nucleotide variant |
Wilson disease [RCV002128555] |
Chr13:51970661 [GRCh38]
Chr13:52544797 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+14A>G |
single nucleotide variant |
Wilson disease [RCV002109891] |
Chr13:51937262 [GRCh38]
Chr13:52511398 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2535C>A (p.Val845=) |
single nucleotide variant |
Wilson disease [RCV002085898] |
Chr13:51950312 [GRCh38]
Chr13:52524448 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.693C>T (p.Asn231=) |
single nucleotide variant |
Wilson disease [RCV002166421] |
Chr13:51974527 [GRCh38]
Chr13:52548663 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.570T>C (p.Tyr190=) |
single nucleotide variant |
Wilson disease [RCV002186208] |
Chr13:51974650 [GRCh38]
Chr13:52548786 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.774C>G (p.Thr258=) |
single nucleotide variant |
Wilson disease [RCV002145300] |
Chr13:51974446 [GRCh38]
Chr13:52548582 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2367A>G (p.Ser789=) |
single nucleotide variant |
Wilson disease [RCV002090482] |
Chr13:51957596 [GRCh38]
Chr13:52531732 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1494C>T (p.Thr498=) |
single nucleotide variant |
Wilson disease [RCV002128789] |
Chr13:51970541 [GRCh38]
Chr13:52544677 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-6C>T |
single nucleotide variant |
Wilson disease [RCV002149057] |
Chr13:51935701 [GRCh38]
Chr13:52509837 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1746A>C (p.Ile582=) |
single nucleotide variant |
Wilson disease [RCV002130663] |
Chr13:51964995 [GRCh38]
Chr13:52539131 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4011C>T (p.Pro1337=) |
single nucleotide variant |
Wilson disease [RCV002084997] |
Chr13:51937286 [GRCh38]
Chr13:52511422 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2025C>T (p.Ser675=) |
single nucleotide variant |
Wilson disease [RCV002106915] |
Chr13:51960244 [GRCh38]
Chr13:52534380 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2517T>C (p.Phe839=) |
single nucleotide variant |
Wilson disease [RCV002191796] |
Chr13:51950330 [GRCh38]
Chr13:52524466 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4143G>C (p.Leu1381=) |
single nucleotide variant |
Wilson disease [RCV002071363] |
Chr13:51935011 [GRCh38]
Chr13:52509147 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3789C>T (p.Ala1263=) |
single nucleotide variant |
Wilson disease [RCV002210228] |
Chr13:51937590 [GRCh38]
Chr13:52511726 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3060+9G>A |
single nucleotide variant |
Wilson disease [RCV002170042] |
Chr13:51946275 [GRCh38]
Chr13:52520411 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.270G>A (p.Lys90=) |
single nucleotide variant |
Wilson disease [RCV002190561] |
Chr13:51974950 [GRCh38]
Chr13:52549086 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3412+18C>A |
single nucleotide variant |
Wilson disease [RCV002170223] |
Chr13:51942368 [GRCh38]
Chr13:52516504 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.111T>C (p.Phe37=) |
single nucleotide variant |
Wilson disease [RCV002090542] |
Chr13:51975109 [GRCh38]
Chr13:52549245 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1707+8C>T |
single nucleotide variant |
Wilson disease [RCV002091095] |
Chr13:51968436 [GRCh38]
Chr13:52542572 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.543A>G (p.Gln181=) |
single nucleotide variant |
Wilson disease [RCV002089215] |
Chr13:51974677 [GRCh38]
Chr13:52548813 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1599C>T (p.Asp533=) |
single nucleotide variant |
Wilson disease [RCV002191664] |
Chr13:51968552 [GRCh38]
Chr13:52542688 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3654G>A (p.Leu1218=) |
single nucleotide variant |
Wilson disease [RCV002089451] |
Chr13:51939096 [GRCh38]
Chr13:52513232 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1710C>T (p.Ile570=) |
single nucleotide variant |
Wilson disease [RCV002210068] |
Chr13:51965031 [GRCh38]
Chr13:52539167 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1062C>A (p.Val354=) |
single nucleotide variant |
Wilson disease [RCV002147772] |
Chr13:51974158 [GRCh38]
Chr13:52548294 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+10C>T |
single nucleotide variant |
Wilson disease [RCV002205763] |
Chr13:51935583 [GRCh38]
Chr13:52509719 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.444G>A (p.Arg148=) |
single nucleotide variant |
Wilson disease [RCV002210397] |
Chr13:51974776 [GRCh38]
Chr13:52548912 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2823A>C (p.Val941=) |
single nucleotide variant |
Wilson disease [RCV002169107] |
Chr13:51949704 [GRCh38]
Chr13:52523840 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2394C>T (p.Leu798=) |
single nucleotide variant |
Wilson disease [RCV002089998] |
Chr13:51957569 [GRCh38]
Chr13:52531705 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.495C>T (p.Val165=) |
single nucleotide variant |
Wilson disease [RCV002148862] |
Chr13:51974725 [GRCh38]
Chr13:52548861 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3378C>T (p.His1126=) |
single nucleotide variant |
Wilson disease [RCV002148166] |
Chr13:51942420 [GRCh38]
Chr13:52516556 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3912G>A (p.Leu1304=) |
single nucleotide variant |
Wilson disease [RCV002085555] |
Chr13:51937385 [GRCh38]
Chr13:52511521 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2346C>T (p.His782=) |
single nucleotide variant |
Wilson disease [RCV002152882] |
Chr13:51958320 [GRCh38]
Chr13:52532456 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3978C>T (p.Val1326=) |
single nucleotide variant |
Wilson disease [RCV002135324] |
Chr13:51937319 [GRCh38]
Chr13:52511455 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4344T>C (p.Asp1448=) |
single nucleotide variant |
Wilson disease [RCV002107489] |
Chr13:51934810 [GRCh38]
Chr13:52508946 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.51+9T>C |
single nucleotide variant |
Wilson disease [RCV002106260] |
Chr13:52011278 [GRCh38]
Chr13:52585414 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3816C>T (p.Ser1272=) |
single nucleotide variant |
Wilson disease [RCV002191174] |
Chr13:51937563 [GRCh38]
Chr13:52511699 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1359T>G (p.Pro453=) |
single nucleotide variant |
Wilson disease [RCV002086548] |
Chr13:51970676 [GRCh38]
Chr13:52544812 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3556+8C>G |
single nucleotide variant |
Wilson disease [RCV002196194] |
Chr13:51941073 [GRCh38]
Chr13:52515209 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2935C>T (p.Leu979=) |
single nucleotide variant |
Wilson disease [RCV002074721] |
Chr13:51946409 [GRCh38]
Chr13:52520545 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2271G>A (p.Glu757=) |
single nucleotide variant |
Wilson disease [RCV002192891] |
Chr13:51958395 [GRCh38]
Chr13:52532531 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.816C>T (p.Val272=) |
single nucleotide variant |
Wilson disease [RCV002093671] |
Chr13:51974404 [GRCh38]
Chr13:52548540 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4242C>T (p.Pro1414=) |
single nucleotide variant |
Wilson disease [RCV002153230] |
Chr13:51934912 [GRCh38]
Chr13:52509048 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4194C>T (p.Ser1398=) |
single nucleotide variant |
Wilson disease [RCV002150926] |
Chr13:51934960 [GRCh38]
Chr13:52509096 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4386G>A (p.Glu1462=) |
single nucleotide variant |
Wilson disease [RCV002127779] |
Chr13:51934768 [GRCh38]
Chr13:52508904 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2355+10G>T |
single nucleotide variant |
Wilson disease [RCV002153724] |
Chr13:51958301 [GRCh38]
Chr13:52532437 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3216C>A (p.Gly1072=) |
single nucleotide variant |
Wilson disease [RCV002174675] |
Chr13:51944136 [GRCh38]
Chr13:52518272 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn) |
single nucleotide variant |
not provided [RCV002211254] |
Chr13:51939086 [GRCh38]
Chr13:52513222 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4092G>T (p.Val1364=) |
single nucleotide variant |
Wilson disease [RCV002115457]|not provided [RCV003389900] |
Chr13:51935625 [GRCh38]
Chr13:52509761 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-6T>C |
single nucleotide variant |
Wilson disease [RCV002171770] |
Chr13:51970755 [GRCh38]
Chr13:52544891 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2124C>T (p.Leu708=) |
single nucleotide variant |
Wilson disease [RCV002097017] |
Chr13:51958542 [GRCh38]
Chr13:52532678 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.528C>T (p.Val176=) |
single nucleotide variant |
Wilson disease [RCV002114888] |
Chr13:51974692 [GRCh38]
Chr13:52548828 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3556+20T>C |
single nucleotide variant |
Wilson disease [RCV002193305] |
Chr13:51941061 [GRCh38]
Chr13:52515197 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3294A>C (p.Pro1098=) |
single nucleotide variant |
Wilson disease [RCV002212495] |
Chr13:51942504 [GRCh38]
Chr13:52516640 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1344T>C (p.Thr448=) |
single nucleotide variant |
Wilson disease [RCV002153806] |
Chr13:51970691 [GRCh38]
Chr13:52544827 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3108C>A (p.Val1036=) |
single nucleotide variant |
Wilson disease [RCV002133035] |
Chr13:51944244 [GRCh38]
Chr13:52518380 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1866T>C (p.Ile622=) |
single nucleotide variant |
Wilson disease [RCV002113848] |
Chr13:51964875 [GRCh38]
Chr13:52539011 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2160A>G (p.Lys720=) |
single nucleotide variant |
Wilson disease [RCV002212773] |
Chr13:51958506 [GRCh38]
Chr13:52532642 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2754C>T (p.Asp918=) |
single nucleotide variant |
Wilson disease [RCV002171863] |
Chr13:51949773 [GRCh38]
Chr13:52523909 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3243+17G>A |
single nucleotide variant |
Wilson disease [RCV002212833] |
Chr13:51944092 [GRCh38]
Chr13:52518228 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4029C>T (p.Phe1343=) |
single nucleotide variant |
Wilson disease [RCV002173160] |
Chr13:51935688 [GRCh38]
Chr13:52509824 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.33A>G (p.Arg11=) |
single nucleotide variant |
Wilson disease [RCV002173568] |
Chr13:52011305 [GRCh38]
Chr13:52585441 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.246T>C (p.Asn82=) |
single nucleotide variant |
Wilson disease [RCV002153641] |
Chr13:51974974 [GRCh38]
Chr13:52549110 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.921C>T (p.Ser307=) |
single nucleotide variant |
Wilson disease [RCV002090524] |
Chr13:51974299 [GRCh38]
Chr13:52548435 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4141C>T (p.Leu1381=) |
single nucleotide variant |
Wilson disease [RCV002090648] |
Chr13:51935013 [GRCh38]
Chr13:52509149 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4371T>C (p.Asn1457=) |
single nucleotide variant |
Wilson disease [RCV002079087] |
Chr13:51934783 [GRCh38]
Chr13:52508919 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4263G>A (p.Gln1421=) |
single nucleotide variant |
Wilson disease [RCV002147285] |
Chr13:51934891 [GRCh38]
Chr13:52509027 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.597C>T (p.Asp199=) |
single nucleotide variant |
Wilson disease [RCV002115486] |
Chr13:51974623 [GRCh38]
Chr13:52548759 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1959T>C (p.Ser653=) |
single nucleotide variant |
Wilson disease [RCV002151559] |
Chr13:51960310 [GRCh38]
Chr13:52534446 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3852T>C (p.Ile1284=) |
single nucleotide variant |
Wilson disease [RCV002110540] |
Chr13:51937527 [GRCh38]
Chr13:52511663 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2925C>T (p.Ser975=) |
single nucleotide variant |
Wilson disease [RCV002092513] |
Chr13:51946419 [GRCh38]
Chr13:52520555 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2447+8A>T |
single nucleotide variant |
Wilson disease [RCV002109267] |
Chr13:51957508 [GRCh38]
Chr13:52531644 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2559T>C (p.Asp853=) |
single nucleotide variant |
Wilson disease [RCV002191154] |
Chr13:51950288 [GRCh38]
Chr13:52524424 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1536A>G (p.Lys512=) |
single nucleotide variant |
Wilson disease [RCV002096048] |
Chr13:51970499 [GRCh38]
Chr13:52544635 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2866-4T>A |
single nucleotide variant |
Wilson disease [RCV002077605] |
Chr13:51946482 [GRCh38]
Chr13:52520618 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.354C>T (p.Asp118=) |
single nucleotide variant |
Wilson disease [RCV002194255] |
Chr13:51974866 [GRCh38]
Chr13:52549002 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2448-16G>A |
single nucleotide variant |
Wilson disease [RCV002106877] |
Chr13:51950415 [GRCh38]
Chr13:52524551 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3429C>T (p.Thr1143=) |
single nucleotide variant |
Inborn genetic diseases [RCV002454532]|Wilson disease [RCV002134342] |
Chr13:51941208 [GRCh38]
Chr13:52515344 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1551C>G (p.Leu517=) |
single nucleotide variant |
Wilson disease [RCV002134426] |
Chr13:51968600 [GRCh38]
Chr13:52542736 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4188G>A (p.Thr1396=) |
single nucleotide variant |
Wilson disease [RCV002212242] |
Chr13:51934966 [GRCh38]
Chr13:52509102 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2922G>C (p.Thr974=) |
single nucleotide variant |
Wilson disease [RCV002080232] |
Chr13:51946422 [GRCh38]
Chr13:52520558 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2340G>T (p.Leu780=) |
single nucleotide variant |
Wilson disease [RCV002146908] |
Chr13:51958326 [GRCh38]
Chr13:52532462 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2755C>A (p.Arg919=) |
single nucleotide variant |
Wilson disease [RCV002133533] |
Chr13:51949772 [GRCh38]
Chr13:52523908 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met) |
single nucleotide variant |
Wilson disease [RCV002077425] |
Chr13:51944135 [GRCh38]
Chr13:52518271 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3556+11C>T |
single nucleotide variant |
Wilson disease [RCV002077955] |
Chr13:51941070 [GRCh38]
Chr13:52515206 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1776C>A (p.Ile592=) |
single nucleotide variant |
Wilson disease [RCV002213597] |
Chr13:51964965 [GRCh38]
Chr13:52539101 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3567T>C (p.Cys1189=) |
single nucleotide variant |
Inborn genetic diseases [RCV002454539]|Wilson disease [RCV002138949] |
Chr13:51939183 [GRCh38]
Chr13:52513319 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3564C>T (p.Leu1188=) |
single nucleotide variant |
Wilson disease [RCV002140860] |
Chr13:51939186 [GRCh38]
Chr13:52513322 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3244-9C>T |
single nucleotide variant |
ATP7B-related disorder [RCV003951057]|Wilson disease [RCV002122137] |
Chr13:51942563 [GRCh38]
Chr13:52516699 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1035C>G (p.Ser345=) |
single nucleotide variant |
Wilson disease [RCV002198678] |
Chr13:51974185 [GRCh38]
Chr13:52548321 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4275C>T (p.Val1425=) |
single nucleotide variant |
Wilson disease [RCV002100870] |
Chr13:51934879 [GRCh38]
Chr13:52509015 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-30A>G |
single nucleotide variant |
not provided [RCV002221757] |
|
likely benign |
| NM_000053.4(ATP7B):c.306T>C (p.Tyr102=) |
single nucleotide variant |
Wilson disease [RCV002182171] |
Chr13:51974914 [GRCh38]
Chr13:52549050 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3354C>G (p.Arg1118=) |
single nucleotide variant |
Wilson disease [RCV002103516] |
Chr13:51942444 [GRCh38]
Chr13:52516580 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+14G>A |
single nucleotide variant |
Wilson disease [RCV002218210] |
Chr13:51935579 [GRCh38]
Chr13:52509715 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4206G>C (p.Val1402=) |
single nucleotide variant |
Wilson disease [RCV002121305] |
Chr13:51934948 [GRCh38]
Chr13:52509084 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3412+10G>C |
single nucleotide variant |
Wilson disease [RCV002216538] |
Chr13:51942376 [GRCh38]
Chr13:52516512 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-5del |
deletion |
Wilson disease [RCV002117645] |
Chr13:51950166 [GRCh38]
Chr13:52524302 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.367G>T (p.Ala123Ser) |
single nucleotide variant |
not provided [RCV002244590] |
Chr13:51974853 [GRCh38]
Chr13:52548989 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile) |
single nucleotide variant |
Wilson disease [RCV002248978] |
Chr13:51937570 [GRCh38]
Chr13:52511706 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1242A>G (p.Arg414=) |
single nucleotide variant |
Wilson disease [RCV002202077] |
Chr13:51973978 [GRCh38]
Chr13:52548114 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3261C>G (p.Thr1087=) |
single nucleotide variant |
Wilson disease [RCV002163689] |
Chr13:51942537 [GRCh38]
Chr13:52516673 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1215_1216delinsTG (p.Ser406Ala) |
indel |
Wilson disease [RCV002177760] |
Chr13:51974004..51974005 [GRCh38]
Chr13:52548140..52548141 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3903+7G>C |
single nucleotide variant |
Wilson disease [RCV002143357] |
Chr13:51937469 [GRCh38]
Chr13:52511605 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+7del |
deletion |
Wilson disease [RCV002163802] |
Chr13:51937269 [GRCh38]
Chr13:52511405 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1815T>G (p.Leu605=) |
single nucleotide variant |
Wilson disease [RCV002120131] |
Chr13:51964926 [GRCh38]
Chr13:52539062 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.102G>A (p.Lys34=) |
single nucleotide variant |
Wilson disease [RCV002217321] |
Chr13:51975118 [GRCh38]
Chr13:52549254 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2358C>T (p.Ser786=) |
single nucleotide variant |
Wilson disease [RCV002082168] |
Chr13:51957605 [GRCh38]
Chr13:52531741 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3129C>T (p.Leu1043=) |
single nucleotide variant |
Wilson disease [RCV002160800] |
Chr13:51944223 [GRCh38]
Chr13:52518359 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1080C>G (p.Thr360=) |
single nucleotide variant |
Wilson disease [RCV002136601] |
Chr13:51974140 [GRCh38]
Chr13:52548276 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3060+10T>C |
single nucleotide variant |
Wilson disease [RCV002162717] |
Chr13:51946274 [GRCh38]
Chr13:52520410 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3412+1G>C |
single nucleotide variant |
Wilson disease [RCV002251695] |
Chr13:51942385 [GRCh38]
Chr13:52516521 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4278C>T (p.Ser1426=) |
single nucleotide variant |
Wilson disease [RCV002159311] |
Chr13:51934876 [GRCh38]
Chr13:52509012 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2343A>G (p.Glu781=) |
single nucleotide variant |
Wilson disease [RCV002097824] |
Chr13:51958323 [GRCh38]
Chr13:52532459 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2731-14T>C |
single nucleotide variant |
Wilson disease [RCV002097866] |
Chr13:51949810 [GRCh38]
Chr13:52523946 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.876G>A (p.Leu292=) |
single nucleotide variant |
Wilson disease [RCV002144199] |
Chr13:51974344 [GRCh38]
Chr13:52548480 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2400C>T (p.Ala800=) |
single nucleotide variant |
Wilson disease [RCV002099923] |
Chr13:51957563 [GRCh38]
Chr13:52531699 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.582C>T (p.Pro194=) |
single nucleotide variant |
Wilson disease [RCV002159346] |
Chr13:51974638 [GRCh38]
Chr13:52548774 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2244G>C (p.Leu748=) |
single nucleotide variant |
Wilson disease [RCV002161173] |
Chr13:51958422 [GRCh38]
Chr13:52532558 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4209C>T (p.His1403=) |
single nucleotide variant |
Wilson disease [RCV002182591] |
Chr13:51934945 [GRCh38]
Chr13:52509081 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.847C>T (p.Leu283=) |
single nucleotide variant |
Wilson disease [RCV002200154] |
Chr13:51974373 [GRCh38]
Chr13:52548509 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2088T>C (p.Asn696=) |
single nucleotide variant |
Wilson disease [RCV002219015] |
Chr13:51960181 [GRCh38]
Chr13:52534317 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.954T>C (p.Leu318=) |
single nucleotide variant |
Wilson disease [RCV002081869] |
Chr13:51974266 [GRCh38]
Chr13:52548402 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3412+10G>A |
single nucleotide variant |
Wilson disease [RCV002121893] |
Chr13:51942376 [GRCh38]
Chr13:52516512 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3327G>A (p.Val1109=) |
single nucleotide variant |
Wilson disease [RCV002103959] |
Chr13:51942471 [GRCh38]
Chr13:52516607 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1176G>T (p.Val392=) |
single nucleotide variant |
Wilson disease [RCV002084127] |
Chr13:51974044 [GRCh38]
Chr13:52548180 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2496G>A (p.Lys832=) |
single nucleotide variant |
Wilson disease [RCV002158507] |
Chr13:51950351 [GRCh38]
Chr13:52524487 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.678G>A (p.Arg226=) |
single nucleotide variant |
Wilson disease [RCV002082191] |
Chr13:51974542 [GRCh38]
Chr13:52548678 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NC_000013.10:g.(52549305_52585422)_(52585631_?)del |
deletion |
Wilson disease [RCV002222941] |
Chr13:52585422..52585631 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.900G>A (p.Lys300=) |
single nucleotide variant |
Wilson disease [RCV002201186] |
Chr13:51974320 [GRCh38]
Chr13:52548456 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1869+16A>G |
single nucleotide variant |
Wilson disease [RCV002117503] |
Chr13:51964856 [GRCh38]
Chr13:52538992 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4287G>C (p.Ser1429=) |
single nucleotide variant |
Wilson disease [RCV002099901] |
Chr13:51934867 [GRCh38]
Chr13:52509003 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3870G>C (p.Val1290=) |
single nucleotide variant |
Wilson disease [RCV002184831] |
Chr13:51937509 [GRCh38]
Chr13:52511645 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4125-4C>A |
single nucleotide variant |
Wilson disease [RCV002139008] |
Chr13:51935033 [GRCh38]
Chr13:52509169 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1707+17C>T |
single nucleotide variant |
Wilson disease [RCV002157854] |
Chr13:51968427 [GRCh38]
Chr13:52542563 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2122-8T>C |
single nucleotide variant |
Wilson disease [RCV002157885] |
Chr13:51958552 [GRCh38]
Chr13:52532688 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3516C>T (p.His1172=) |
single nucleotide variant |
Wilson disease [RCV002081714] |
Chr13:51941121 [GRCh38]
Chr13:52515257 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1119T>C (p.Cys373=) |
single nucleotide variant |
Wilson disease [RCV002081789] |
Chr13:51974101 [GRCh38]
Chr13:52548237 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3243+7G>A |
single nucleotide variant |
Wilson disease [RCV002159594] |
Chr13:51944102 [GRCh38]
Chr13:52518238 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2415T>A (p.Val805=) |
single nucleotide variant |
Wilson disease [RCV002136056] |
Chr13:51957548 [GRCh38]
Chr13:52531684 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=) |
single nucleotide variant |
Wilson disease [RCV002156518] |
Chr13:51935679 [GRCh38]
Chr13:52509815 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1014C>T (p.His338=) |
single nucleotide variant |
Wilson disease [RCV002141571] |
Chr13:51974206 [GRCh38]
Chr13:52548342 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3699+17T>G |
single nucleotide variant |
Wilson disease [RCV002160001] |
Chr13:51939034 [GRCh38]
Chr13:52513170 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.396C>T (p.Ser132=) |
single nucleotide variant |
Inborn genetic diseases [RCV003161348]|Wilson disease [RCV002154705] |
Chr13:51974824 [GRCh38]
Chr13:52548960 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3117C>T (p.Val1039=) |
single nucleotide variant |
Wilson disease [RCV002118551] |
Chr13:51944235 [GRCh38]
Chr13:52518371 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4125-9G>A |
single nucleotide variant |
Wilson disease [RCV002178004] |
Chr13:51935038 [GRCh38]
Chr13:52509174 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2652C>T (p.Leu884=) |
single nucleotide variant |
Wilson disease [RCV002181745] |
Chr13:51950085 [GRCh38]
Chr13:52524221 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.744C>T (p.Thr248=) |
single nucleotide variant |
Wilson disease [RCV002143909] |
Chr13:51974476 [GRCh38]
Chr13:52548612 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3033A>G (p.Gly1011=) |
single nucleotide variant |
Wilson disease [RCV002140028] |
Chr13:51946311 [GRCh38]
Chr13:52520447 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4164G>A (p.Ala1388=) |
single nucleotide variant |
Wilson disease [RCV002123905] |
Chr13:51934990 [GRCh38]
Chr13:52509126 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1946+10A>G |
single nucleotide variant |
Wilson disease [RCV002176611] |
Chr13:51961827 [GRCh38]
Chr13:52535963 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.48G>T (p.Arg16=) |
single nucleotide variant |
Wilson disease [RCV002158862] |
Chr13:52011290 [GRCh38]
Chr13:52585426 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3417A>C (p.Ala1139=) |
single nucleotide variant |
Inborn genetic diseases [RCV003348814]|Wilson disease [RCV002200979]|not provided [RCV003389903] |
Chr13:51941220 [GRCh38]
Chr13:52515356 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3342C>T (p.Ala1114=) |
single nucleotide variant |
Wilson disease [RCV002103153] |
Chr13:51942456 [GRCh38]
Chr13:52516592 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1449A>G (p.Arg483=) |
single nucleotide variant |
Wilson disease [RCV002199284] |
Chr13:51970586 [GRCh38]
Chr13:52544722 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3795G>T (p.Val1265=) |
single nucleotide variant |
Wilson disease [RCV002163109] |
Chr13:51937584 [GRCh38]
Chr13:52511720 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2049C>T (p.Val683=) |
single nucleotide variant |
Wilson disease [RCV002180617] |
Chr13:51960220 [GRCh38]
Chr13:52534356 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4060A>T (p.Met1354Leu) |
single nucleotide variant |
not provided [RCV004784334] |
Chr13:51935657 [GRCh38]
Chr13:52509793 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.441C>G (p.Leu147=) |
single nucleotide variant |
Wilson disease [RCV003115848] |
Chr13:51974779 [GRCh38]
Chr13:52548915 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+1G>A |
single nucleotide variant |
Wilson disease [RCV003111923] |
Chr13:51937275 [GRCh38]
Chr13:52511411 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2663C>T (p.Thr888Ile) |
single nucleotide variant |
Wilson disease [RCV003111991] |
Chr13:51950074 [GRCh38]
Chr13:52524210 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3557-12G>T |
single nucleotide variant |
Wilson disease [RCV003116092] |
Chr13:51939205 [GRCh38]
Chr13:52513341 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2139C>T (p.Tyr713=) |
single nucleotide variant |
Wilson disease [RCV003112081] |
Chr13:51958527 [GRCh38]
Chr13:52532663 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3199A>G (p.Ser1067Gly) |
single nucleotide variant |
Wilson disease [RCV003113715] |
Chr13:51944153 [GRCh38]
Chr13:52518289 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4094C>T (p.Ser1365Phe) |
single nucleotide variant |
Wilson disease [RCV003112134] |
Chr13:51935623 [GRCh38]
Chr13:52509759 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3089G>T (p.Gly1030Val) |
single nucleotide variant |
Wilson disease [RCV003112286] |
Chr13:51944263 [GRCh38]
Chr13:52518399 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2204T>G (p.Leu735Arg) |
single nucleotide variant |
Wilson disease [RCV003112288] |
Chr13:51958462 [GRCh38]
Chr13:52532598 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3507G>A (p.Met1169Ile) |
single nucleotide variant |
Wilson disease [RCV003115068] |
Chr13:51941130 [GRCh38]
Chr13:52515266 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly) |
single nucleotide variant |
Wilson disease [RCV003117935] |
Chr13:51974855 [GRCh38]
Chr13:52548991 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2215A>G (p.Ile739Val) |
single nucleotide variant |
Wilson disease [RCV003118496] |
Chr13:51958451 [GRCh38]
Chr13:52532587 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1707+17C>A |
single nucleotide variant |
Wilson disease [RCV003120127] |
Chr13:51968427 [GRCh38]
Chr13:52542563 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1543+4A>G |
single nucleotide variant |
Wilson disease [RCV003120258] |
Chr13:51970488 [GRCh38]
Chr13:52544624 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.10:g.(?_52516512)_(52516700_?)del |
deletion |
Wilson disease [RCV003119194] |
Chr13:52516512..52516700 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52531632)_(52532700_?)del |
deletion |
Wilson disease [RCV003119195] |
Chr13:52531632..52532700 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52548990)_(52552030_?)del |
deletion |
Wilson disease [RCV003119196] |
Chr13:52548990..52552030 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52511432)_(52514936_?)del |
deletion |
Wilson disease [RCV003119197] |
Chr13:52511432..52514936 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52508892)_(52585473_?)del |
deletion |
Wilson disease [RCV003119198] |
Chr13:52508892..52585473 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_51484213)_(52602726_?)dup |
duplication |
Wilson disease [RCV003119199] |
Chr13:51484213..52602726 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.579G>A (p.Gln193=) |
single nucleotide variant |
Wilson disease [RCV003121562] |
Chr13:51974641 [GRCh38]
Chr13:52548777 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2873A>G (p.Asn958Ser) |
single nucleotide variant |
Wilson disease [RCV003118915] |
Chr13:51946471 [GRCh38]
Chr13:52520607 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala) |
single nucleotide variant |
Wilson disease [RCV003119308] |
Chr13:51974966 [GRCh38]
Chr13:52549102 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3916G>T (p.Asp1306Tyr) |
single nucleotide variant |
Wilson disease [RCV005105021]|not provided [RCV004777523] |
Chr13:51937381 [GRCh38]
Chr13:52511517 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.3665del (p.Asp1222fs) |
deletion |
Wilson disease [RCV003148356] |
Chr13:51939085 [GRCh38]
Chr13:52513221 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs) |
deletion |
Wilson disease [RCV002271739] |
Chr13:51950122..51950123 [GRCh38]
Chr13:52524258..52524259 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro) |
single nucleotide variant |
Wilson disease [RCV002227383] |
Chr13:51941185 [GRCh38]
Chr13:52515321 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2987del (p.Met996fs) |
deletion |
Wilson disease [RCV003455903] |
Chr13:51946357 [GRCh38]
Chr13:52520493 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu) |
single nucleotide variant |
Wilson disease [RCV003233350] |
Chr13:51950069 [GRCh38]
Chr13:52524205 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3413A>G (p.Asp1138Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002452175] |
Chr13:51941224 [GRCh38]
Chr13:52515360 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1652T>C (p.Phe551Ser) |
single nucleotide variant |
not provided [RCV002261959] |
Chr13:51968499 [GRCh38]
Chr13:52542635 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3060+2T>C |
single nucleotide variant |
Wilson disease [RCV005008508]|not provided [RCV002275992] |
Chr13:51946282 [GRCh38]
Chr13:52520418 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3118A>C (p.Met1040Leu) |
single nucleotide variant |
Wilson disease [RCV004808244]|not provided [RCV002279038] |
Chr13:51944234 [GRCh38]
Chr13:52518370 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile) |
single nucleotide variant |
Wilson disease [RCV002282778] |
Chr13:51960209 [GRCh38]
Chr13:52534345 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2885C>T (p.Ser962Phe) |
single nucleotide variant |
not provided [RCV002261956] |
Chr13:51946459 [GRCh38]
Chr13:52520595 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly) |
single nucleotide variant |
Wilson disease [RCV002481073]|not provided [RCV002261957] |
Chr13:51964891 [GRCh38]
Chr13:52539027 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3187G>A (p.Ala1063Thr) |
single nucleotide variant |
Wilson disease [RCV003989760]|not provided [RCV002261955] |
Chr13:51944165 [GRCh38]
Chr13:52518301 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1676A>G (p.Tyr559Cys) |
single nucleotide variant |
Wilson disease [RCV003609200]|not provided [RCV002279123] |
Chr13:51968475 [GRCh38]
Chr13:52542611 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2957C>G (p.Ser986Cys) |
single nucleotide variant |
not provided [RCV002287176] |
Chr13:51946387 [GRCh38]
Chr13:52520523 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3700-3T>G |
single nucleotide variant |
not provided [RCV002262424] |
Chr13:51937682 [GRCh38]
Chr13:52511818 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 |
copy number gain |
not provided [RCV002291540] |
Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_000053.4(ATP7B):c.2876A>T (p.Lys959Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002437724] |
Chr13:51946468 [GRCh38]
Chr13:52520604 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4348G>A (p.Asp1450Asn) |
single nucleotide variant |
Wilson disease [RCV002297200] |
Chr13:51934806 [GRCh38]
Chr13:52508942 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3557-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002454899] |
Chr13:51939195 [GRCh38]
Chr13:52513331 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_001004127.2(ALG11):c.-23C>T |
single nucleotide variant |
ALG11-congenital disorder of glycosylation [RCV000295863]|Wilson disease [RCV003144202]|not provided [RCV004693156]|not specified [RCV002248613] |
Chr13:52012396 [GRCh38]
Chr13:52586532 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1202T>C (p.Val401Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002351672] |
Chr13:51974018 [GRCh38]
Chr13:52548154 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3284A>G (p.Gln1095Arg) |
single nucleotide variant |
Wilson disease [RCV002858414] |
Chr13:51942514 [GRCh38]
Chr13:52516650 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4314A>G (p.Pro1438=) |
single nucleotide variant |
Inborn genetic diseases [RCV002331989]|Wilson disease [RCV003775866] |
Chr13:51934840 [GRCh38]
Chr13:52508976 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1475del (p.Leu492fs) |
deletion |
Wilson disease [RCV002306532] |
Chr13:51970560 [GRCh38]
Chr13:52544696 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.334G>T (p.Val112Phe) |
single nucleotide variant |
Wilson disease [RCV002304306] |
Chr13:51974886 [GRCh38]
Chr13:52549022 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4141C>G (p.Leu1381Val) |
single nucleotide variant |
Wilson disease [RCV002295413] |
Chr13:51935013 [GRCh38]
Chr13:52509149 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.482_483delinsA (p.Ile161fs) |
indel |
Wilson disease [RCV002307956] |
Chr13:51974737..51974738 [GRCh38]
Chr13:52548873..52548874 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4114C>A (p.Gln1372Lys) |
single nucleotide variant |
Wilson disease [RCV002304541] |
Chr13:51935603 [GRCh38]
Chr13:52509739 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1600C>T (p.Pro534Ser) |
single nucleotide variant |
Wilson disease [RCV002304650] |
Chr13:51968551 [GRCh38]
Chr13:52542687 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3477A>T (p.Leu1159Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002457330]|Wilson disease [RCV003099511] |
Chr13:51941160 [GRCh38]
Chr13:52515296 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2512_2513del (p.Lys838fs) |
deletion |
Wilson disease [RCV002309009] |
Chr13:51950334..51950335 [GRCh38]
Chr13:52524470..52524471 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.782_783del (p.Leu261fs) |
deletion |
Wilson disease [RCV002309135] |
Chr13:51974437..51974438 [GRCh38]
Chr13:52548573..52548574 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.590_591del (p.Leu197fs) |
deletion |
Wilson disease [RCV002309178] |
Chr13:51974629..51974630 [GRCh38]
Chr13:52548765..52548766 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter) |
single nucleotide variant |
Wilson disease [RCV002308044] |
Chr13:51937622 [GRCh38]
Chr13:52511758 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3027_3028del (p.Lys1010fs) |
deletion |
Wilson disease [RCV002309437] |
Chr13:51946316..51946317 [GRCh38]
Chr13:52520452..52520453 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2947_2950del (p.Cys983fs) |
microsatellite |
Wilson disease [RCV002309546] |
Chr13:51946394..51946397 [GRCh38]
Chr13:52520530..52520533 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter) |
single nucleotide variant |
Wilson disease [RCV002309632] |
Chr13:51974807 [GRCh38]
Chr13:52548943 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2226T>C (p.Val742=) |
single nucleotide variant |
Inborn genetic diseases [RCV002428151] |
Chr13:51958440 [GRCh38]
Chr13:52532576 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1727_1728del (p.Ala576fs) |
microsatellite |
Wilson disease [RCV002308318] |
Chr13:51965013..51965014 [GRCh38]
Chr13:52539149..52539150 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3523A>C (p.Lys1175Gln) |
single nucleotide variant |
Wilson disease [RCV002301572] |
Chr13:51941114 [GRCh38]
Chr13:52515250 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1397_1403del (p.Leu466fs) |
deletion |
Wilson disease [RCV002309650] |
Chr13:51970632..51970638 [GRCh38]
Chr13:52544768..52544774 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2687del (p.Leu896fs) |
deletion |
Wilson disease [RCV002308382] |
Chr13:51950050 [GRCh38]
Chr13:52524186 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1031A>G (p.His344Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002381104] |
Chr13:51974189 [GRCh38]
Chr13:52548325 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2885_2895del (p.Ser962fs) |
deletion |
Wilson disease [RCV002309968] |
Chr13:51946449..51946459 [GRCh38]
Chr13:52520585..52520595 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter) |
single nucleotide variant |
Wilson disease [RCV002310276] |
Chr13:51970570 [GRCh38]
Chr13:52544706 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3286G>A (p.Ala1096Thr) |
single nucleotide variant |
Wilson disease [RCV002295420] |
Chr13:51942512 [GRCh38]
Chr13:52516648 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2915_2916delinsA (p.Phe972fs) |
indel |
Wilson disease [RCV002309739] |
Chr13:51946428..51946429 [GRCh38]
Chr13:52520564..52520565 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3707del (p.Ile1236fs) |
deletion |
Wilson disease [RCV002309898] |
Chr13:51937672 [GRCh38]
Chr13:52511808 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.531_535del (p.Leu178fs) |
deletion |
Wilson disease [RCV002308469] |
Chr13:51974685..51974689 [GRCh38]
Chr13:52548821..52548825 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1781A>C (p.Tyr594Ser) |
single nucleotide variant |
Wilson disease [RCV002295094] |
Chr13:51964960 [GRCh38]
Chr13:52539096 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.763dup (p.His255fs) |
duplication |
Wilson disease [RCV002306967] |
Chr13:51974456..51974457 [GRCh38]
Chr13:52548592..52548593 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.424G>C (p.Glu142Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002329853] |
Chr13:51974796 [GRCh38]
Chr13:52548932 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002451759]|Wilson disease [RCV003102359] |
Chr13:51942425 [GRCh38]
Chr13:52516561 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.218_219del (p.Val73fs) |
microsatellite |
Wilson disease [RCV002308008] |
Chr13:51975001..51975002 [GRCh38]
Chr13:52549137..52549138 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.654C>T (p.Ser218=) |
single nucleotide variant |
Inborn genetic diseases [RCV002364354] |
Chr13:51974566 [GRCh38]
Chr13:52548702 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002424022]|Wilson disease [RCV003464547] |
Chr13:51975012 [GRCh38]
Chr13:52549148 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter) |
single nucleotide variant |
Wilson disease [RCV002306926] |
Chr13:51942533 [GRCh38]
Chr13:52516669 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2673del (p.Asn892fs) |
deletion |
Wilson disease [RCV002306994] |
Chr13:51950064 [GRCh38]
Chr13:52524200 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4332A>G (p.Ala1444=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332133] |
Chr13:51934822 [GRCh38]
Chr13:52508958 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1738del (p.His580fs) |
deletion |
Wilson disease [RCV002307304] |
Chr13:51965003 [GRCh38]
Chr13:52539139 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1580del (p.Lys527fs) |
deletion |
Wilson disease [RCV002309181] |
Chr13:51968571 [GRCh38]
Chr13:52542707 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter) |
single nucleotide variant |
Wilson disease [RCV002309365] |
Chr13:51942486 [GRCh38]
Chr13:52516622 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2964del (p.Leu989fs) |
deletion |
Wilson disease [RCV002309469] |
Chr13:51946380 [GRCh38]
Chr13:52520516 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3782_3791del (p.Lys1261fs) |
deletion |
Wilson disease [RCV002309209] |
Chr13:51937588..51937597 [GRCh38]
Chr13:52511724..52511733 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3463_3464del (p.Arg1155fs) |
deletion |
Wilson disease [RCV002309673] |
Chr13:51941173..51941174 [GRCh38]
Chr13:52515309..52515310 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3583_3584del (p.Ala1195fs) |
deletion |
Wilson disease [RCV002309726] |
Chr13:51939166..51939167 [GRCh38]
Chr13:52513302..52513303 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.167dup (p.Val57fs) |
duplication |
Wilson disease [RCV002308133] |
Chr13:51975052..51975053 [GRCh38]
Chr13:52549188..52549189 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter) |
single nucleotide variant |
Wilson disease [RCV002310150] |
Chr13:51970538 [GRCh38]
Chr13:52544674 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1381C>T (p.Pro461Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002381173]|Wilson disease [RCV003120993] |
Chr13:51970654 [GRCh38]
Chr13:52544790 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3935_3936del (p.His1312fs) |
deletion |
Wilson disease [RCV002306719] |
Chr13:51937361..51937362 [GRCh38]
Chr13:52511497..52511498 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3741_3742del (p.His1247fs) |
microsatellite |
Wilson disease [RCV002308359] |
Chr13:51937637..51937638 [GRCh38]
Chr13:52511773..52511774 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1737C>G (p.Val579=) |
single nucleotide variant |
Inborn genetic diseases [RCV002407460]|Wilson disease [RCV003100810] |
Chr13:51965004 [GRCh38]
Chr13:52539140 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2255T>C (p.Val752Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002443626] |
Chr13:51958411 [GRCh38]
Chr13:52532547 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.416dup (p.Ala140fs) |
duplication |
Wilson disease [RCV002307112] |
Chr13:51974803..51974804 [GRCh38]
Chr13:52548939..52548940 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.533_534del (p.Leu178fs) |
deletion |
Wilson disease [RCV002307337] |
Chr13:51974686..51974687 [GRCh38]
Chr13:52548822..52548823 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1191G>C (p.Gly397=) |
single nucleotide variant |
Wilson disease [RCV002616977] |
Chr13:51974029 [GRCh38]
Chr13:52548165 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1666A>C (p.Met556Leu) |
single nucleotide variant |
Wilson disease [RCV002615301] |
Chr13:51968485 [GRCh38]
Chr13:52542621 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1044C>T (p.Ser348=) |
single nucleotide variant |
Wilson disease [RCV002881687] |
Chr13:51974176 [GRCh38]
Chr13:52548312 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3904-19G>A |
single nucleotide variant |
Wilson disease [RCV002839180] |
Chr13:51937412 [GRCh38]
Chr13:52511548 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2991G>T (p.Val997=) |
single nucleotide variant |
Wilson disease [RCV002839195] |
Chr13:51946353 [GRCh38]
Chr13:52520489 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3454G>A (p.Glu1152Lys) |
single nucleotide variant |
Wilson disease [RCV002685383] |
Chr13:51941183 [GRCh38]
Chr13:52515319 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.62A>T (p.Lys21Met) |
single nucleotide variant |
Wilson disease [RCV002995715]|not provided [RCV004593117] |
Chr13:51975158 [GRCh38]
Chr13:52549294 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1584A>G (p.Ala528=) |
single nucleotide variant |
Wilson disease [RCV002995312] |
Chr13:51968567 [GRCh38]
Chr13:52542703 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1028C>G (p.Ser343Cys) |
single nucleotide variant |
Wilson disease [RCV002972669] |
Chr13:51974192 [GRCh38]
Chr13:52548328 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2520A>T (p.Pro840=) |
single nucleotide variant |
Wilson disease [RCV002838065] |
Chr13:51950327 [GRCh38]
Chr13:52524463 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-7G>T |
single nucleotide variant |
Wilson disease [RCV002862166] |
Chr13:51939200 [GRCh38]
Chr13:52513336 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3594C>G (p.Val1198=) |
single nucleotide variant |
Wilson disease [RCV002863493] |
Chr13:51939156 [GRCh38]
Chr13:52513292 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2452del (p.Glu818fs) |
deletion |
Wilson disease [RCV002881665] |
Chr13:51950395 [GRCh38]
Chr13:52524531 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2039A>G (p.Gln680Arg) |
single nucleotide variant |
Wilson disease [RCV002685876] |
Chr13:51960230 [GRCh38]
Chr13:52534366 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3555C>T (p.Asp1185=) |
single nucleotide variant |
Wilson disease [RCV003095322] |
Chr13:51941082 [GRCh38]
Chr13:52515218 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3843T>C (p.Gly1281=) |
single nucleotide variant |
Wilson disease [RCV003011662] |
Chr13:51937536 [GRCh38]
Chr13:52511672 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2829T>C (p.Gly943=) |
single nucleotide variant |
Wilson disease [RCV002971517] |
Chr13:51949698 [GRCh38]
Chr13:52523834 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.998G>A (p.Gly333Glu) |
single nucleotide variant |
Wilson disease [RCV002971317]|not provided [RCV004790293] |
Chr13:51974222 [GRCh38]
Chr13:52548358 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1544-4C>T |
single nucleotide variant |
Wilson disease [RCV002614395] |
Chr13:51968611 [GRCh38]
Chr13:52542747 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1680A>G (p.Ala560=) |
single nucleotide variant |
Wilson disease [RCV003033360] |
Chr13:51968471 [GRCh38]
Chr13:52542607 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.869T>C (p.Val290Ala) |
single nucleotide variant |
Wilson disease [RCV003077063] |
Chr13:51974351 [GRCh38]
Chr13:52548487 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3033A>T (p.Gly1011=) |
single nucleotide variant |
Wilson disease [RCV002780047] |
Chr13:51946311 [GRCh38]
Chr13:52520447 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter) |
single nucleotide variant |
Wilson disease [RCV002618588] |
Chr13:51934925 [GRCh38]
Chr13:52509061 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1921T>G (p.Leu641Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002947957]|Wilson disease [RCV002947958]|not provided [RCV003395542] |
Chr13:51961862 [GRCh38]
Chr13:52535998 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2986A>G (p.Met996Val) |
single nucleotide variant |
Wilson disease [RCV002996807] |
Chr13:51946358 [GRCh38]
Chr13:52520494 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.664A>C (p.Ile222Leu) |
single nucleotide variant |
Wilson disease [RCV002994103] |
Chr13:51974556 [GRCh38]
Chr13:52548692 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2544C>A (p.Gly848=) |
single nucleotide variant |
Wilson disease [RCV003015148] |
Chr13:51950303 [GRCh38]
Chr13:52524439 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1470C>T (p.Cys490=) |
single nucleotide variant |
Wilson disease [RCV002863698] |
Chr13:51970565 [GRCh38]
Chr13:52544701 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1689T>C (p.Asp563=) |
single nucleotide variant |
Wilson disease [RCV003097647] |
Chr13:51968462 [GRCh38]
Chr13:52542598 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.697A>G (p.Lys233Glu) |
single nucleotide variant |
Wilson disease [RCV002636200] |
Chr13:51974523 [GRCh38]
Chr13:52548659 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.963G>A (p.Gly321=) |
single nucleotide variant |
Inborn genetic diseases [RCV004068662]|Wilson disease [RCV003034702] |
Chr13:51974257 [GRCh38]
Chr13:52548393 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1317C>T (p.His439=) |
single nucleotide variant |
Wilson disease [RCV003017740] |
Chr13:51970718 [GRCh38]
Chr13:52544854 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.437A>G (p.Lys146Arg) |
single nucleotide variant |
Wilson disease [RCV003073702] |
Chr13:51974783 [GRCh38]
Chr13:52548919 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3880G>A (p.Ala1294Thr) |
single nucleotide variant |
Wilson disease [RCV002843719] |
Chr13:51937499 [GRCh38]
Chr13:52511635 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1707+18G>A |
single nucleotide variant |
Wilson disease [RCV002882324] |
Chr13:51968426 [GRCh38]
Chr13:52542562 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2355+11C>G |
single nucleotide variant |
Wilson disease [RCV003076184] |
Chr13:51958300 [GRCh38]
Chr13:52532436 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3955C>G (p.Arg1319Gly) |
single nucleotide variant |
Wilson disease [RCV002780000] |
Chr13:51937342 [GRCh38]
Chr13:52511478 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.52-8del |
deletion |
Wilson disease [RCV002734779] |
Chr13:51975176 [GRCh38]
Chr13:52549312 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2491G>A (p.Val831Ile) |
single nucleotide variant |
Wilson disease [RCV002970763] |
Chr13:51950356 [GRCh38]
Chr13:52524492 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1285+5G>A |
single nucleotide variant |
Wilson disease [RCV002616709] |
Chr13:51973930 [GRCh38]
Chr13:52548066 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1515C>T (p.Asn505=) |
single nucleotide variant |
Wilson disease [RCV002843489] |
Chr13:51970520 [GRCh38]
Chr13:52544656 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.98T>G (p.Met33Arg) |
single nucleotide variant |
Wilson disease [RCV002616520]|not provided [RCV004725553] |
Chr13:51975122 [GRCh38]
Chr13:52549258 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3623C>G (p.Thr1208Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002901647] |
Chr13:51939127 [GRCh38]
Chr13:52513263 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.989G>A (p.Gly330Glu) |
single nucleotide variant |
Wilson disease [RCV003074499] |
Chr13:51974231 [GRCh38]
Chr13:52548367 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4071G>A (p.Ala1357=) |
single nucleotide variant |
Wilson disease [RCV003074501] |
Chr13:51935646 [GRCh38]
Chr13:52509782 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3061-8T>C |
single nucleotide variant |
Wilson disease [RCV002616856] |
Chr13:51944299 [GRCh38]
Chr13:52518435 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2589A>G (p.Pro863=) |
single nucleotide variant |
Wilson disease [RCV002686413] |
Chr13:51950148 [GRCh38]
Chr13:52524284 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3575T>C (p.Ile1192Thr) |
single nucleotide variant |
Wilson disease [RCV002842661]|not provided [RCV004790251] |
Chr13:51939175 [GRCh38]
Chr13:52513311 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.649T>C (p.Leu217=) |
single nucleotide variant |
Wilson disease [RCV002750121] |
Chr13:51974571 [GRCh38]
Chr13:52548707 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1257C>T (p.Asp419=) |
single nucleotide variant |
Wilson disease [RCV002815896] |
Chr13:51973963 [GRCh38]
Chr13:52548099 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2377G>C (p.Ala793Pro) |
single nucleotide variant |
not provided [RCV002511759] |
Chr13:51957586 [GRCh38]
Chr13:52531722 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.486A>C (p.Glu162Asp) |
single nucleotide variant |
Wilson disease [RCV002686102] |
Chr13:51974734 [GRCh38]
Chr13:52548870 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.177C>G (p.Thr59=) |
single nucleotide variant |
Wilson disease [RCV002750768] |
Chr13:51975043 [GRCh38]
Chr13:52549179 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1518A>G (p.Ile506Met) |
single nucleotide variant |
Wilson disease [RCV003073937] |
Chr13:51970517 [GRCh38]
Chr13:52544653 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.840C>G (p.Gly280=) |
single nucleotide variant |
Wilson disease [RCV003074691] |
Chr13:51974380 [GRCh38]
Chr13:52548516 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1285+4C>T |
single nucleotide variant |
Wilson disease [RCV002616436] |
Chr13:51973931 [GRCh38]
Chr13:52548067 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3244-8C>A |
single nucleotide variant |
Wilson disease [RCV002839521] |
Chr13:51942562 [GRCh38]
Chr13:52516698 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1614G>T (p.Gln538His) |
single nucleotide variant |
Wilson disease [RCV003014694] |
Chr13:51968537 [GRCh38]
Chr13:52542673 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4076_4077delinsAT (p.Met1359Asn) |
indel |
Wilson disease [RCV002842492] |
Chr13:51935640..51935641 [GRCh38]
Chr13:52509776..52509777 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2875A>G (p.Lys959Glu) |
single nucleotide variant |
Wilson disease [RCV002615778] |
Chr13:51946469 [GRCh38]
Chr13:52520605 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2755_2756insAA (p.Arg919fs) |
insertion |
Wilson disease [RCV002838676] |
Chr13:51949771..51949772 [GRCh38]
Chr13:52523907..52523908 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4086C>T (p.Ser1362=) |
single nucleotide variant |
Wilson disease [RCV002756357] |
Chr13:51935631 [GRCh38]
Chr13:52509767 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1368G>T (p.Val456=) |
single nucleotide variant |
Wilson disease [RCV003033383] |
Chr13:51970667 [GRCh38]
Chr13:52544803 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3493G>A (p.Val1165Ile) |
single nucleotide variant |
Wilson disease [RCV003076186] |
Chr13:51941144 [GRCh38]
Chr13:52515280 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3027C>A (p.Ile1009=) |
single nucleotide variant |
Wilson disease [RCV003012583] |
Chr13:51946317 [GRCh38]
Chr13:52520453 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.580C>T (p.Pro194Ser) |
single nucleotide variant |
Wilson disease [RCV003074497] |
Chr13:51974640 [GRCh38]
Chr13:52548776 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1623G>A (p.Glu541=) |
single nucleotide variant |
Wilson disease [RCV002880874] |
Chr13:51968528 [GRCh38]
Chr13:52542664 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2731G>A (p.Ala911Thr) |
single nucleotide variant |
Wilson disease [RCV002996526] |
Chr13:51949796 [GRCh38]
Chr13:52523932 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4347G>A (p.Gly1449=) |
single nucleotide variant |
Wilson disease [RCV003073886] |
Chr13:51934807 [GRCh38]
Chr13:52508943 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1188A>C (p.Glu396Asp) |
single nucleotide variant |
Wilson disease [RCV002755604] |
Chr13:51974032 [GRCh38]
Chr13:52548168 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1354A>T (p.Thr452Ser) |
single nucleotide variant |
Wilson disease [RCV003014060] |
Chr13:51970681 [GRCh38]
Chr13:52544817 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3822C>T (p.Ala1274=) |
single nucleotide variant |
Wilson disease [RCV002903524] |
Chr13:51937557 [GRCh38]
Chr13:52511693 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2108G>T (p.Cys703Phe) |
single nucleotide variant |
Wilson disease [RCV002996745] |
Chr13:51960161 [GRCh38]
Chr13:52534297 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2156A>G (p.Tyr719Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002818454]|Wilson disease [RCV004009547] |
Chr13:51958510 [GRCh38]
Chr13:52532646 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.464A>G (p.Gln155Arg) |
single nucleotide variant |
Wilson disease [RCV002971159] |
Chr13:51974756 [GRCh38]
Chr13:52548892 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3133C>G (p.Leu1045Val) |
single nucleotide variant |
Wilson disease [RCV003081409] |
Chr13:51944219 [GRCh38]
Chr13:52518355 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3699+18T>G |
single nucleotide variant |
Wilson disease [RCV003018195] |
Chr13:51939033 [GRCh38]
Chr13:52513169 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3112A>C (p.Arg1038=) |
single nucleotide variant |
Wilson disease [RCV003018853] |
Chr13:51944240 [GRCh38]
Chr13:52518376 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2392C>T (p.Leu798Phe) |
single nucleotide variant |
Wilson disease [RCV003081705] |
Chr13:51957571 [GRCh38]
Chr13:52531707 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3727del (p.Val1243fs) |
deletion |
Wilson disease [RCV002870966] |
Chr13:51937652 [GRCh38]
Chr13:52511788 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2762G>T (p.Ser921Ile) |
single nucleotide variant |
Wilson disease [RCV003002679] |
Chr13:51949765 [GRCh38]
Chr13:52523901 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1866T>A (p.Ile622=) |
single nucleotide variant |
Wilson disease [RCV002740145] |
Chr13:51964875 [GRCh38]
Chr13:52539011 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4027_4029dup (p.Phe1343_Met1344insPhe) |
duplication |
Wilson disease [RCV003055419] |
Chr13:51935687..51935688 [GRCh38]
Chr13:52509823..52509824 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4012A>G (p.Ile1338Val) |
single nucleotide variant |
Wilson disease [RCV003053068] |
Chr13:51937285 [GRCh38]
Chr13:52511421 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3534A>G (p.Thr1178=) |
single nucleotide variant |
Wilson disease [RCV003038477] |
Chr13:51941103 [GRCh38]
Chr13:52515239 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1989T>C (p.Pro663=) |
single nucleotide variant |
Wilson disease [RCV003081147] |
Chr13:51960280 [GRCh38]
Chr13:52534416 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.852G>C (p.Gly284=) |
single nucleotide variant |
Wilson disease [RCV003055429] |
Chr13:51974368 [GRCh38]
Chr13:52548504 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1074C>T (p.Cys358=) |
single nucleotide variant |
Wilson disease [RCV003003116] |
Chr13:51974146 [GRCh38]
Chr13:52548282 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2664C>A (p.Thr888=) |
single nucleotide variant |
Wilson disease [RCV003039660] |
Chr13:51950073 [GRCh38]
Chr13:52524209 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1185C>G (p.Ala395=) |
single nucleotide variant |
Wilson disease [RCV002639668] |
Chr13:51974035 [GRCh38]
Chr13:52548171 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1236A>G (p.Glu412=) |
single nucleotide variant |
Wilson disease [RCV003021947] |
Chr13:51973984 [GRCh38]
Chr13:52548120 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1138A>C (p.Met380Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003348983]|Wilson disease [RCV003036059] |
Chr13:51974082 [GRCh38]
Chr13:52548218 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.3348T>C (p.Ser1116=) |
single nucleotide variant |
Wilson disease [RCV002953659] |
Chr13:51942450 [GRCh38]
Chr13:52516586 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3678A>C (p.Thr1226=) |
single nucleotide variant |
Wilson disease [RCV002570163] |
Chr13:51939072 [GRCh38]
Chr13:52513208 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1870-7T>C |
single nucleotide variant |
Wilson disease [RCV002800090] |
Chr13:51961920 [GRCh38]
Chr13:52536056 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp) |
single nucleotide variant |
Wilson disease [RCV002824276] |
Chr13:51942502 [GRCh38]
Chr13:52516638 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.4116G>A (p.Gln1372=) |
single nucleotide variant |
Wilson disease [RCV002866383] |
Chr13:51935601 [GRCh38]
Chr13:52509737 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2427T>C (p.Gly809=) |
single nucleotide variant |
Wilson disease [RCV003021686] |
Chr13:51957536 [GRCh38]
Chr13:52531672 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2094C>T (p.Ile698=) |
single nucleotide variant |
Wilson disease [RCV003052954] |
Chr13:51960175 [GRCh38]
Chr13:52534311 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1921T>C (p.Leu641=) |
single nucleotide variant |
Wilson disease [RCV003077455] |
Chr13:51961862 [GRCh38]
Chr13:52535998 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.870_874del (p.Ser291fs) |
deletion |
Wilson disease [RCV003053767] |
Chr13:51974346..51974350 [GRCh38]
Chr13:52548482..52548486 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3699+16G>A |
single nucleotide variant |
Wilson disease [RCV002913021] |
Chr13:51939035 [GRCh38]
Chr13:52513171 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.436_1708-958del |
deletion |
Wilson disease [RCV002510282] |
Chr13:51965991..51974784 [GRCh38]
Chr13:52540127..52548920 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1131T>A (p.Ile377=) |
single nucleotide variant |
Wilson disease [RCV003053777] |
Chr13:51974089 [GRCh38]
Chr13:52548225 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3336C>T (p.Ile1112=) |
single nucleotide variant |
Wilson disease [RCV002820622] |
Chr13:51942462 [GRCh38]
Chr13:52516598 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3298T>C (p.Cys1100Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002925779] |
Chr13:51942500 [GRCh38]
Chr13:52516636 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.595G>T (p.Asp199Tyr) |
single nucleotide variant |
Wilson disease [RCV002620730] |
Chr13:51974625 [GRCh38]
Chr13:52548761 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1171T>C (p.Ser391Pro) |
single nucleotide variant |
Wilson disease [RCV003077880] |
Chr13:51974049 [GRCh38]
Chr13:52548185 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.969dup (p.Lys324Ter) |
duplication |
Wilson disease [RCV002867199] |
Chr13:51974250..51974251 [GRCh38]
Chr13:52548386..52548387 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp) |
single nucleotide variant |
Wilson disease [RCV002949543] |
Chr13:51958484 [GRCh38]
Chr13:52532620 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3329A>C (p.Glu1110Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002781736] |
Chr13:51942469 [GRCh38]
Chr13:52516605 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2588C>T (p.Pro863Leu) |
single nucleotide variant |
Wilson disease [RCV003018203] |
Chr13:51950149 [GRCh38]
Chr13:52524285 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2659G>C (p.Ala887Pro) |
single nucleotide variant |
Wilson disease [RCV003079396] |
Chr13:51950078 [GRCh38]
Chr13:52524214 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.26C>T (p.Thr9Ile) |
single nucleotide variant |
Wilson disease [RCV003100179] |
Chr13:52011312 [GRCh38]
Chr13:52585448 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3390T>C (p.Ala1130=) |
single nucleotide variant |
Wilson disease [RCV002868044] |
Chr13:51942408 [GRCh38]
Chr13:52516544 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+5G>C |
single nucleotide variant |
Wilson disease [RCV003079608] |
Chr13:51937271 [GRCh38]
Chr13:52511407 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1728G>T (p.Ala576=) |
single nucleotide variant |
Wilson disease [RCV002638877] |
Chr13:51965013 [GRCh38]
Chr13:52539149 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-6G>C |
single nucleotide variant |
Wilson disease [RCV003054827] |
Chr13:51941230 [GRCh38]
Chr13:52515366 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg) |
single nucleotide variant |
Wilson disease [RCV003079170] |
Chr13:51950017 [GRCh38]
Chr13:52524153 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1855del (p.Ile619fs) |
deletion |
Wilson disease [RCV002848383] |
Chr13:51964886 [GRCh38]
Chr13:52539022 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2454G>A (p.Glu818=) |
single nucleotide variant |
Wilson disease [RCV003079408] |
Chr13:51950393 [GRCh38]
Chr13:52524529 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.441C>A (p.Leu147=) |
single nucleotide variant |
Wilson disease [RCV002913529] |
Chr13:51974779 [GRCh38]
Chr13:52548915 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1149A>G (p.Gln383=) |
single nucleotide variant |
Wilson disease [RCV002913173] |
Chr13:51974071 [GRCh38]
Chr13:52548207 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln) |
single nucleotide variant |
Wilson disease [RCV003059886]|not provided [RCV003036993] |
Chr13:51939079 [GRCh38]
Chr13:52513215 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4140C>T (p.Asp1380=) |
single nucleotide variant |
Wilson disease [RCV003021203] |
Chr13:51935014 [GRCh38]
Chr13:52509150 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2772T>C (p.Phe924=) |
single nucleotide variant |
Wilson disease [RCV002620198] |
Chr13:51949755 [GRCh38]
Chr13:52523891 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.501A>T (p.Lys167Asn) |
single nucleotide variant |
Wilson disease [RCV002979331] |
Chr13:51974719 [GRCh38]
Chr13:52548855 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3556+3A>G |
single nucleotide variant |
Wilson disease [RCV002695472]|not provided [RCV003481325] |
Chr13:51941078 [GRCh38]
Chr13:52515214 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1544-13C>G |
single nucleotide variant |
Wilson disease [RCV003079001] |
Chr13:51968620 [GRCh38]
Chr13:52542756 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2071G>C (p.Gly691Arg) |
single nucleotide variant |
Wilson disease [RCV002619246] |
Chr13:51960198 [GRCh38]
Chr13:52534334 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.46C>G (p.Arg16Gly) |
single nucleotide variant |
Wilson disease [RCV002760290] |
Chr13:52011292 [GRCh38]
Chr13:52585428 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.10C>G (p.Gln4Glu) |
single nucleotide variant |
Wilson disease [RCV002691258] |
Chr13:52011328 [GRCh38]
Chr13:52585464 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2768A>G (p.Tyr923Cys) |
single nucleotide variant |
Wilson disease [RCV003053178] |
Chr13:51949759 [GRCh38]
Chr13:52523895 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2495A>C (p.Lys832Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002798618] |
Chr13:51950352 [GRCh38]
Chr13:52524488 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3954C>T (p.Val1318=) |
single nucleotide variant |
Wilson disease [RCV003021278] |
Chr13:51937343 [GRCh38]
Chr13:52511479 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.903T>G (p.Tyr301Ter) |
single nucleotide variant |
Wilson disease [RCV002843912] |
Chr13:51974317 [GRCh38]
Chr13:52548453 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2766A>G (p.Gly922=) |
single nucleotide variant |
Wilson disease [RCV003053739] |
Chr13:51949761 [GRCh38]
Chr13:52523897 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1543+10G>T |
single nucleotide variant |
Wilson disease [RCV002780640] |
Chr13:51970482 [GRCh38]
Chr13:52544618 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.234C>T (p.Asp78=) |
single nucleotide variant |
Wilson disease [RCV002761205] |
Chr13:51974986 [GRCh38]
Chr13:52549122 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.579G>C (p.Gln193His) |
single nucleotide variant |
Wilson disease [RCV002979217]|not specified [RCV004801264] |
Chr13:51974641 [GRCh38]
Chr13:52548777 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.441C>T (p.Leu147=) |
single nucleotide variant |
Wilson disease [RCV002619148] |
Chr13:51974779 [GRCh38]
Chr13:52548915 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1362A>C (p.Thr454=) |
single nucleotide variant |
Wilson disease [RCV003021646] |
Chr13:51970673 [GRCh38]
Chr13:52544809 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.453dup (p.Met152fs) |
duplication |
Wilson disease [RCV003054293] |
Chr13:51974766..51974767 [GRCh38]
Chr13:52548902..52548903 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2435A>G (p.Asn812Ser) |
single nucleotide variant |
Wilson disease [RCV003079891] |
Chr13:51957528 [GRCh38]
Chr13:52531664 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2589A>C (p.Pro863=) |
single nucleotide variant |
Wilson disease [RCV002824698] |
Chr13:51950148 [GRCh38]
Chr13:52524284 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4283T>C (p.Val1428Ala) |
single nucleotide variant |
Wilson disease [RCV003002375] |
Chr13:51934871 [GRCh38]
Chr13:52509007 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1665C>A (p.Val555=) |
single nucleotide variant |
Wilson disease [RCV002592772] |
Chr13:51968486 [GRCh38]
Chr13:52542622 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2133del (p.Trp712fs) |
deletion |
Wilson disease [RCV002927432] |
Chr13:51958533 [GRCh38]
Chr13:52532669 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val) |
single nucleotide variant |
Wilson disease [RCV002620988] |
Chr13:51950361 [GRCh38]
Chr13:52524497 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1582G>A (p.Ala528Thr) |
single nucleotide variant |
Wilson disease [RCV003081210] |
Chr13:51968569 [GRCh38]
Chr13:52542705 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3244-10A>G |
single nucleotide variant |
Wilson disease [RCV002592332] |
Chr13:51942564 [GRCh38]
Chr13:52516700 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2737A>G (p.Ile913Val) |
single nucleotide variant |
Wilson disease [RCV002659546] |
Chr13:51949790 [GRCh38]
Chr13:52523926 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3053C>A (p.Ala1018Glu) |
single nucleotide variant |
Wilson disease [RCV003002678] |
Chr13:51946291 [GRCh38]
Chr13:52520427 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3413-20C>T |
single nucleotide variant |
Wilson disease [RCV002932130] |
Chr13:51941244 [GRCh38]
Chr13:52515380 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.160TCT[1] (p.Ser55del) |
microsatellite |
Wilson disease [RCV002805882] |
Chr13:51975055..51975057 [GRCh38]
Chr13:52549191..52549193 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3243+15G>T |
single nucleotide variant |
Wilson disease [RCV002958876] |
Chr13:51944094 [GRCh38]
Chr13:52518230 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2310C>T (p.Leu770=) |
single nucleotide variant |
Wilson disease [RCV002932785] |
Chr13:51958356 [GRCh38]
Chr13:52532492 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1272T>G (p.Ala424=) |
single nucleotide variant |
Wilson disease [RCV002871975] |
Chr13:51973948 [GRCh38]
Chr13:52548084 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1709T>C (p.Ile570Thr) |
single nucleotide variant |
Wilson disease [RCV003041525] |
Chr13:51965032 [GRCh38]
Chr13:52539168 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1740C>T (p.His580=) |
single nucleotide variant |
Wilson disease [RCV003007865] |
Chr13:51965001 [GRCh38]
Chr13:52539137 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3951T>C (p.Thr1317=) |
single nucleotide variant |
Wilson disease [RCV003085051] |
Chr13:51937346 [GRCh38]
Chr13:52511482 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+1G>A |
single nucleotide variant |
Wilson disease [RCV002889935] |
Chr13:51935592 [GRCh38]
Chr13:52509728 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1105A>C (p.Thr369Pro) |
single nucleotide variant |
Wilson disease [RCV002597321] |
Chr13:51974115 [GRCh38]
Chr13:52548251 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.40G>A (p.Ala14Thr) |
single nucleotide variant |
Wilson disease [RCV002740587] |
Chr13:52011298 [GRCh38]
Chr13:52585434 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2424_2425insA (p.Gly809fs) |
insertion |
Wilson disease [RCV003041194] |
Chr13:51957538..51957539 [GRCh38]
Chr13:52531674..52531675 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2865+11T>A |
single nucleotide variant |
Wilson disease [RCV003059604] |
Chr13:51949651 [GRCh38]
Chr13:52523787 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2655T>C (p.Ile885=) |
single nucleotide variant |
Wilson disease [RCV002954440] |
Chr13:51950082 [GRCh38]
Chr13:52524218 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1806C>T (p.Ser602=) |
single nucleotide variant |
Wilson disease [RCV003084608] |
Chr13:51964935 [GRCh38]
Chr13:52539071 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2865+8G>A |
single nucleotide variant |
Wilson disease [RCV002626118] |
Chr13:51949654 [GRCh38]
Chr13:52523790 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.495C>A (p.Val165=) |
single nucleotide variant |
Wilson disease [RCV002891006] |
Chr13:51974725 [GRCh38]
Chr13:52548861 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2546A>G (p.Asn849Ser) |
single nucleotide variant |
Wilson disease [RCV003083083] |
Chr13:51950301 [GRCh38]
Chr13:52524437 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2963G>T (p.Gly988Val) |
single nucleotide variant |
Wilson disease [RCV003041193] |
Chr13:51946381 [GRCh38]
Chr13:52520517 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2261A>G (p.Glu754Gly) |
single nucleotide variant |
Wilson disease [RCV003041195] |
Chr13:51958405 [GRCh38]
Chr13:52532541 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2185A>G (p.Met729Val) |
single nucleotide variant |
Wilson disease [RCV003041196] |
Chr13:51958481 [GRCh38]
Chr13:52532617 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.315G>A (p.Ser105=) |
single nucleotide variant |
Wilson disease [RCV003083557] |
Chr13:51974905 [GRCh38]
Chr13:52549041 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-4C>G |
single nucleotide variant |
Wilson disease [RCV002625942] |
Chr13:51935699 [GRCh38]
Chr13:52509835 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2006T>C (p.Ile669Thr) |
single nucleotide variant |
Wilson disease [RCV002574632] |
Chr13:51960263 [GRCh38]
Chr13:52534399 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1781A>G (p.Tyr594Cys) |
single nucleotide variant |
Wilson disease [RCV002766293] |
Chr13:51964960 [GRCh38]
Chr13:52539096 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4021+3dup |
duplication |
Wilson disease [RCV003082522] |
Chr13:51937272..51937273 [GRCh38]
Chr13:52511408..52511409 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2332C>A (p.Arg778=) |
single nucleotide variant |
Wilson disease [RCV003082539] |
Chr13:51958334 [GRCh38]
Chr13:52532470 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.677G>A (p.Arg226Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003083791]|Wilson disease [RCV003089310]|not provided [RCV004790355] |
Chr13:51974543 [GRCh38]
Chr13:52548679 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3118A>T (p.Met1040Leu) |
single nucleotide variant |
Wilson disease [RCV003057170] |
Chr13:51944234 [GRCh38]
Chr13:52518370 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1972C>T (p.Leu658=) |
single nucleotide variant |
Wilson disease [RCV002790127] |
Chr13:51960297 [GRCh38]
Chr13:52534433 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3926C>T (p.Ala1309Val) |
single nucleotide variant |
Wilson disease [RCV003058419] |
Chr13:51937371 [GRCh38]
Chr13:52511507 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4231C>G (p.Arg1411Gly) |
single nucleotide variant |
Wilson disease [RCV003082047] |
Chr13:51934923 [GRCh38]
Chr13:52509059 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys) |
single nucleotide variant |
Wilson disease [RCV002624021]|not provided [RCV004784104] |
Chr13:51942446 [GRCh38]
Chr13:52516582 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4194C>A (p.Ser1398=) |
single nucleotide variant |
Wilson disease [RCV002801914] |
Chr13:51934960 [GRCh38]
Chr13:52509096 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.51+2T>C |
single nucleotide variant |
Wilson disease [RCV002802208] |
Chr13:52011285 [GRCh38]
Chr13:52585421 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2561A>G (p.Glu854Gly) |
single nucleotide variant |
Wilson disease [RCV003058423] |
Chr13:51950286 [GRCh38]
Chr13:52524422 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3904-15G>A |
single nucleotide variant |
Wilson disease [RCV002595028] |
Chr13:51937408 [GRCh38]
Chr13:52511544 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4011del (p.Ile1338fs) |
deletion |
Wilson disease [RCV002871629] |
Chr13:51937286 [GRCh38]
Chr13:52511422 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2359A>C (p.Lys787Gln) |
single nucleotide variant |
Wilson disease [RCV003023152] |
Chr13:51957604 [GRCh38]
Chr13:52531740 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.9G>C (p.Glu3Asp) |
single nucleotide variant |
Wilson disease [RCV002741833] |
Chr13:52011329 [GRCh38]
Chr13:52585465 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3243+5G>C |
single nucleotide variant |
Wilson disease [RCV003084180] |
Chr13:51944104 [GRCh38]
Chr13:52518240 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2434A>C (p.Asn812His) |
single nucleotide variant |
Inborn genetic diseases [RCV004963350]|Wilson disease [RCV003024274] |
Chr13:51957529 [GRCh38]
Chr13:52531665 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3061-6dup |
duplication |
Wilson disease [RCV003008058] |
Chr13:51944296..51944297 [GRCh38]
Chr13:52518432..52518433 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.958C>T (p.Pro320Ser) |
single nucleotide variant |
Wilson disease [RCV003081907] |
Chr13:51974262 [GRCh38]
Chr13:52548398 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2235G>C (p.Leu745=) |
single nucleotide variant |
Wilson disease [RCV002741129] |
Chr13:51958431 [GRCh38]
Chr13:52532567 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala) |
single nucleotide variant |
Wilson disease [RCV002667878]|not specified [RCV003226553] |
Chr13:51974028 [GRCh38]
Chr13:52548164 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3969C>T (p.Ile1323=) |
single nucleotide variant |
Wilson disease [RCV002623650] |
Chr13:51937328 [GRCh38]
Chr13:52511464 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1214C>T (p.Pro405Leu) |
single nucleotide variant |
Wilson disease [RCV002624175] |
Chr13:51974006 [GRCh38]
Chr13:52548142 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4093dup (p.Ser1365fs) |
duplication |
Wilson disease [RCV003058418] |
Chr13:51935623..51935624 [GRCh38]
Chr13:52509759..52509760 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3111del (p.Arg1038fs) |
deletion |
Wilson disease [RCV003058421] |
Chr13:51944241 [GRCh38]
Chr13:52518377 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.235A>C (p.Arg79=) |
single nucleotide variant |
Wilson disease [RCV002626272] |
Chr13:51974985 [GRCh38]
Chr13:52549121 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2448-17A>C |
single nucleotide variant |
Wilson disease [RCV003082496] |
Chr13:51950416 [GRCh38]
Chr13:52524552 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2053G>A (p.Asp685Asn) |
single nucleotide variant |
Wilson disease [RCV002572638] |
Chr13:51960216 [GRCh38]
Chr13:52534352 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1022C>G (p.Ser341Cys) |
single nucleotide variant |
Wilson disease [RCV003082276] |
Chr13:51974198 [GRCh38]
Chr13:52548334 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2751T>C (p.Ala917=) |
single nucleotide variant |
Wilson disease [RCV002765804] |
Chr13:51949776 [GRCh38]
Chr13:52523912 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2595T>C (p.Thr865=) |
single nucleotide variant |
Wilson disease [RCV002829000] |
Chr13:51950142 [GRCh38]
Chr13:52524278 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1773C>T (p.Gly591=) |
single nucleotide variant |
Wilson disease [RCV002766307] |
Chr13:51964968 [GRCh38]
Chr13:52539104 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3732G>T (p.Leu1244=) |
single nucleotide variant |
Wilson disease [RCV002958597] |
Chr13:51937647 [GRCh38]
Chr13:52511783 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.215G>A (p.Cys72Tyr) |
single nucleotide variant |
Wilson disease [RCV002667416] |
Chr13:51975005 [GRCh38]
Chr13:52549141 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3569G>T (p.Gly1190Val) |
single nucleotide variant |
Wilson disease [RCV002667828] |
Chr13:51939181 [GRCh38]
Chr13:52513317 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2575+17C>T |
single nucleotide variant |
Wilson disease [RCV002663912] |
Chr13:51950255 [GRCh38]
Chr13:52524391 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1071A>C (p.Thr357=) |
single nucleotide variant |
Wilson disease [RCV002851146] |
Chr13:51974149 [GRCh38]
Chr13:52548285 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4273G>A (p.Val1425Ile) |
single nucleotide variant |
Wilson disease [RCV003058587] |
Chr13:51934881 [GRCh38]
Chr13:52509017 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3423C>G (p.Pro1141=) |
single nucleotide variant |
Wilson disease [RCV002894843] |
Chr13:51941214 [GRCh38]
Chr13:52515350 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4305C>G (p.Ser1435=) |
single nucleotide variant |
Wilson disease [RCV002893911] |
Chr13:51934849 [GRCh38]
Chr13:52508985 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-10dup |
duplication |
Wilson disease [RCV002710203] |
Chr13:51935704..51935705 [GRCh38]
Chr13:52509840..52509841 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+11C>G |
single nucleotide variant |
Wilson disease [RCV002765717] |
Chr13:51937265 [GRCh38]
Chr13:52511401 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1727C>T (p.Ala576Val) |
single nucleotide variant |
Wilson disease [RCV003058756]|not provided [RCV003395576] |
Chr13:51965014 [GRCh38]
Chr13:52539150 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3557-1G>A |
single nucleotide variant |
Wilson disease [RCV002918406] |
Chr13:51939194 [GRCh38]
Chr13:52513330 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3239A>G (p.Lys1080Arg) |
single nucleotide variant |
Wilson disease [RCV003081980] |
Chr13:51944113 [GRCh38]
Chr13:52518249 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.894A>G (p.Gln298=) |
single nucleotide variant |
Wilson disease [RCV002595431] |
Chr13:51974326 [GRCh38]
Chr13:52548462 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.853G>A (p.Val285Ile) |
single nucleotide variant |
Wilson disease [RCV002766624] |
Chr13:51974367 [GRCh38]
Chr13:52548503 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.52011762C>T |
single nucleotide variant |
Wilson disease [RCV002572440] |
Chr13:52011762 [GRCh38]
Chr13:52585898 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly) |
single nucleotide variant |
Wilson disease [RCV002711815]|not provided [RCV003443074] |
Chr13:51942391 [GRCh38]
Chr13:52516527 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2012T>C (p.Met671Thr) |
single nucleotide variant |
Wilson disease [RCV003043213] |
Chr13:51960257 [GRCh38]
Chr13:52534393 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1840G>A (p.Gly614Ser) |
single nucleotide variant |
Wilson disease [RCV003085513] |
Chr13:51964901 [GRCh38]
Chr13:52539037 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2851C>T (p.Gln951Ter) |
single nucleotide variant |
Wilson disease [RCV003022482] |
Chr13:51949676 [GRCh38]
Chr13:52523812 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3206A>T (p.His1069Leu) |
single nucleotide variant |
Wilson disease [RCV003059221] |
Chr13:51944146 [GRCh38]
Chr13:52518282 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1286-8dup |
duplication |
Wilson disease [RCV002710857] |
Chr13:51970756..51970757 [GRCh38]
Chr13:52544892..52544893 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1931A>G (p.Lys644Arg) |
single nucleotide variant |
Wilson disease [RCV003083640] |
Chr13:51961852 [GRCh38]
Chr13:52535988 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.176C>T (p.Thr59Ile) |
single nucleotide variant |
Wilson disease [RCV003084261]|not provided [RCV003481391] |
Chr13:51975044 [GRCh38]
Chr13:52549180 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.530C>T (p.Ser177Leu) |
single nucleotide variant |
Wilson disease [RCV002644340] |
Chr13:51974690 [GRCh38]
Chr13:52548826 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3834A>G (p.Ala1278=) |
single nucleotide variant |
Wilson disease [RCV002801016] |
Chr13:51937545 [GRCh38]
Chr13:52511681 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2451G>A (p.Glu817=) |
single nucleotide variant |
Wilson disease [RCV002790949] |
Chr13:51950396 [GRCh38]
Chr13:52524532 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser) |
single nucleotide variant |
Wilson disease [RCV002644111]|not provided [RCV003481404] |
Chr13:51974184 [GRCh38]
Chr13:52548320 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2613T>C (p.Thr871=) |
single nucleotide variant |
Wilson disease [RCV003042111] |
Chr13:51950124 [GRCh38]
Chr13:52524260 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.663A>C (p.Pro221=) |
single nucleotide variant |
Wilson disease [RCV002765905] |
Chr13:51974557 [GRCh38]
Chr13:52548693 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4284G>A (p.Val1428=) |
single nucleotide variant |
Wilson disease [RCV003083794] |
Chr13:51934870 [GRCh38]
Chr13:52509006 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.694C>T (p.Pro232Ser) |
single nucleotide variant |
Wilson disease [RCV002663226] |
Chr13:51974526 [GRCh38]
Chr13:52548662 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.161C>G (p.Ser54Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002826502] |
Chr13:51975059 [GRCh38]
Chr13:52549195 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1667T>C (p.Met556Thr) |
single nucleotide variant |
Wilson disease [RCV003084516] |
Chr13:51968484 [GRCh38]
Chr13:52542620 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3010C>T (p.Gln1004Ter) |
single nucleotide variant |
Wilson disease [RCV003041192] |
Chr13:51946334 [GRCh38]
Chr13:52520470 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2527G>A (p.Gly843Arg) |
single nucleotide variant |
Wilson disease [RCV003062599] |
Chr13:51950320 [GRCh38]
Chr13:52524456 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2371G>T (p.Ala791Ser) |
single nucleotide variant |
Wilson disease [RCV002580840] |
Chr13:51957592 [GRCh38]
Chr13:52531728 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr) |
single nucleotide variant |
Wilson disease [RCV003091933] |
Chr13:51944132 [GRCh38]
Chr13:52518268 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3061-12T>G |
single nucleotide variant |
Wilson disease [RCV002671825] |
Chr13:51944303 [GRCh38]
Chr13:52518439 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3485C>T (p.Ser1162Phe) |
single nucleotide variant |
Wilson disease [RCV002898938] |
Chr13:51941152 [GRCh38]
Chr13:52515288 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2518C>T (p.Pro840Ser) |
single nucleotide variant |
Wilson disease [RCV002651897] |
Chr13:51950329 [GRCh38]
Chr13:52524465 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2355+5C>T |
single nucleotide variant |
Wilson disease [RCV003090726] |
Chr13:51958306 [GRCh38]
Chr13:52532442 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3243+15G>C |
single nucleotide variant |
Wilson disease [RCV003090680] |
Chr13:51944094 [GRCh38]
Chr13:52518230 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4327G>A (p.Ala1443Thr) |
single nucleotide variant |
Wilson disease [RCV003090856]|not provided [RCV004790357] |
Chr13:51934827 [GRCh38]
Chr13:52508963 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4299del (p.Thr1434fs) |
deletion |
Wilson disease [RCV003091894] |
Chr13:51934855 [GRCh38]
Chr13:52508991 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.555C>G (p.Ile185Met) |
single nucleotide variant |
Wilson disease [RCV003064870] |
Chr13:51974665 [GRCh38]
Chr13:52548801 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1933A>G (p.Met645Val) |
single nucleotide variant |
Wilson disease [RCV003092074] |
Chr13:51961850 [GRCh38]
Chr13:52535986 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2680A>G (p.Thr894Ala) |
single nucleotide variant |
Wilson disease [RCV002631301] |
Chr13:51950057 [GRCh38]
Chr13:52524193 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4152dup (p.Glu1385Ter) |
duplication |
Wilson disease [RCV002857403]|not provided [RCV003481338] |
Chr13:51935001..51935002 [GRCh38]
Chr13:52509137..52509138 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4022-20G>A |
single nucleotide variant |
Wilson disease [RCV003091490] |
Chr13:51935715 [GRCh38]
Chr13:52509851 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg) |
single nucleotide variant |
Wilson disease [RCV003090275] |
Chr13:51934874 [GRCh38]
Chr13:52509010 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2649G>A (p.Val883=) |
single nucleotide variant |
Wilson disease [RCV002856812] |
Chr13:51950088 [GRCh38]
Chr13:52524224 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-4C>T |
single nucleotide variant |
Wilson disease [RCV002715836] |
Chr13:51939197 [GRCh38]
Chr13:52513333 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2787C>A (p.Ile929=) |
single nucleotide variant |
Wilson disease [RCV002898698] |
Chr13:51949740 [GRCh38]
Chr13:52523876 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly) |
single nucleotide variant |
Wilson disease [RCV002632824]|not provided [RCV003481401] |
Chr13:51974958 [GRCh38]
Chr13:52549094 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp) |
single nucleotide variant |
Wilson disease [RCV002632695] |
Chr13:51944248 [GRCh38]
Chr13:52518384 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3556+12T>C |
single nucleotide variant |
Wilson disease [RCV002961967] |
Chr13:51941069 [GRCh38]
Chr13:52515205 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4318C>A (p.Arg1440=) |
single nucleotide variant |
Wilson disease [RCV003048639] |
Chr13:51934836 [GRCh38]
Chr13:52508972 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3466C>T (p.Arg1156Cys) |
single nucleotide variant |
Wilson disease [RCV002966924] |
Chr13:51941171 [GRCh38]
Chr13:52515307 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1946+16A>C |
single nucleotide variant |
Wilson disease [RCV003065512] |
Chr13:51961821 [GRCh38]
Chr13:52535957 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3353G>A (p.Arg1118His) |
single nucleotide variant |
Inborn genetic diseases [RCV003086151]|Wilson disease [RCV003087582] |
Chr13:51942445 [GRCh38]
Chr13:52516581 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3810T>C (p.Asn1270=) |
single nucleotide variant |
Wilson disease [RCV002746530] |
Chr13:51937569 [GRCh38]
Chr13:52511705 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe) |
single nucleotide variant |
Wilson disease [RCV003062591] |
Chr13:51937385 [GRCh38]
Chr13:52511521 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3752A>T (p.Lys1251Met) |
single nucleotide variant |
Wilson disease [RCV003091676]|not provided [RCV005098877] |
Chr13:51937627 [GRCh38]
Chr13:52511763 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3322A>C (p.Asn1108His) |
single nucleotide variant |
Wilson disease [RCV003044538] |
Chr13:51942476 [GRCh38]
Chr13:52516612 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4239C>T (p.Ser1413=) |
single nucleotide variant |
Wilson disease [RCV002933568] |
Chr13:51934915 [GRCh38]
Chr13:52509051 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2763T>A (p.Ser921Arg) |
single nucleotide variant |
Wilson disease [RCV003062596] |
Chr13:51949764 [GRCh38]
Chr13:52523900 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2753A>C (p.Asp918Ala) |
single nucleotide variant |
Wilson disease [RCV003062597]|not provided [RCV003481370] |
Chr13:51949774 [GRCh38]
Chr13:52523910 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2410dup (p.Thr804fs) |
duplication |
Wilson disease [RCV002933630] |
Chr13:51957552..51957553 [GRCh38]
Chr13:52531688..52531689 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1788C>G (p.Ser596=) |
single nucleotide variant |
Wilson disease [RCV003045683] |
Chr13:51964953 [GRCh38]
Chr13:52539089 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val) |
single nucleotide variant |
Wilson disease [RCV003045696] |
Chr13:51946345 [GRCh38]
Chr13:52520481 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3914_3918dup (p.Val1307fs) |
duplication |
Wilson disease [RCV002834024] |
Chr13:51937378..51937379 [GRCh38]
Chr13:52511514..52511515 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1111G>A (p.Ala371Thr) |
single nucleotide variant |
Wilson disease [RCV002646893] |
Chr13:51974109 [GRCh38]
Chr13:52548245 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2674A>T (p.Asn892Tyr) |
single nucleotide variant |
Wilson disease [RCV002649576] |
Chr13:51950063 [GRCh38]
Chr13:52524199 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1100G>A (p.Gly367Asp) |
single nucleotide variant |
Wilson disease [RCV003087437] |
Chr13:51974120 [GRCh38]
Chr13:52548256 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4354_4357dup (p.Ser1453fs) |
duplication |
Wilson disease [RCV003087864] |
Chr13:51934796..51934797 [GRCh38]
Chr13:52508932..52508933 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2169A>G (p.Arg723=) |
single nucleotide variant |
Wilson disease [RCV003029450] |
Chr13:51958497 [GRCh38]
Chr13:52532633 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NC_000013.11:g.52011773A>G |
single nucleotide variant |
Wilson disease [RCV003027160] |
Chr13:52011773 [GRCh38]
Chr13:52585909 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1669G>A (p.Glu557Lys) |
single nucleotide variant |
Wilson disease [RCV003008539] |
Chr13:51968482 [GRCh38]
Chr13:52542618 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3244-18C>A |
single nucleotide variant |
Wilson disease [RCV003008923] |
Chr13:51942572 [GRCh38]
Chr13:52516708 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1305T>C (p.Pro435=) |
single nucleotide variant |
Wilson disease [RCV002716029] |
Chr13:51970730 [GRCh38]
Chr13:52544866 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2866-15_2866-14del |
microsatellite |
Wilson disease [RCV002716058] |
Chr13:51946492..51946493 [GRCh38]
Chr13:52520628..52520629 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2578G>T (p.Glu860Ter) |
single nucleotide variant |
Wilson disease [RCV003046592] |
Chr13:51950159 [GRCh38]
Chr13:52524295 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1520A>G (p.Glu507Gly) |
single nucleotide variant |
Wilson disease [RCV002806374] |
Chr13:51970515 [GRCh38]
Chr13:52544651 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.496C>A (p.Arg166=) |
single nucleotide variant |
Wilson disease [RCV003028604] |
Chr13:51974724 [GRCh38]
Chr13:52548860 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3967A>G (p.Ile1323Val) |
single nucleotide variant |
Wilson disease [RCV002963242] |
Chr13:51937330 [GRCh38]
Chr13:52511466 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.13G>A (p.Glu5Lys) |
single nucleotide variant |
Wilson disease [RCV003026279] |
Chr13:52011325 [GRCh38]
Chr13:52585461 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3276G>A (p.Thr1092=) |
single nucleotide variant |
Wilson disease [RCV003060475] |
Chr13:51942522 [GRCh38]
Chr13:52516658 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-9T>C |
single nucleotide variant |
Wilson disease [RCV002832776] |
Chr13:51950170 [GRCh38]
Chr13:52524306 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1617C>T (p.Pro539=) |
single nucleotide variant |
Wilson disease [RCV003087316] |
Chr13:51968534 [GRCh38]
Chr13:52542670 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.36del (p.Ala14fs) |
deletion |
Wilson disease [RCV002857738] |
Chr13:52011302 [GRCh38]
Chr13:52585438 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3621C>T (p.His1207=) |
single nucleotide variant |
Wilson disease [RCV003060496] |
Chr13:51939129 [GRCh38]
Chr13:52513265 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1496G>C (p.Cys499Ser) |
single nucleotide variant |
Wilson disease [RCV003088261] |
Chr13:51970539 [GRCh38]
Chr13:52544675 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1946+13C>T |
single nucleotide variant |
Wilson disease [RCV002628515] |
Chr13:51961824 [GRCh38]
Chr13:52535960 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2415T>C (p.Val805=) |
single nucleotide variant |
Wilson disease [RCV003088011] |
Chr13:51957548 [GRCh38]
Chr13:52531684 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2193G>A (p.Val731=) |
single nucleotide variant |
Wilson disease [RCV003029452] |
Chr13:51958473 [GRCh38]
Chr13:52532609 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2967G>C (p.Leu989=) |
single nucleotide variant |
Wilson disease [RCV002746021] |
Chr13:51946377 [GRCh38]
Chr13:52520513 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2121+4T>C |
single nucleotide variant |
Wilson disease [RCV003063435] |
Chr13:51960144 [GRCh38]
Chr13:52534280 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.169G>A (p.Val57Met) |
single nucleotide variant |
Wilson disease [RCV002834585] |
Chr13:51975051 [GRCh38]
Chr13:52549187 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2576-6G>C |
single nucleotide variant |
Wilson disease [RCV003030368] |
Chr13:51950167 [GRCh38]
Chr13:52524303 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2833A>G (p.Ile945Val) |
single nucleotide variant |
Wilson disease [RCV002599009]|not provided [RCV004725535] |
Chr13:51949694 [GRCh38]
Chr13:52523830 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2740C>G (p.Gln914Glu) |
single nucleotide variant |
Wilson disease [RCV003044619] |
Chr13:51949787 [GRCh38]
Chr13:52523923 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg) |
single nucleotide variant |
Wilson disease [RCV003062588] |
Chr13:51934758 [GRCh38]
Chr13:52508894 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro) |
single nucleotide variant |
Wilson disease [RCV003062590]|not provided [RCV003481368] |
Chr13:51937332 [GRCh38]
Chr13:52511468 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.2181C>T (p.Ala727=) |
single nucleotide variant |
Wilson disease [RCV003030693] |
Chr13:51958485 [GRCh38]
Chr13:52532621 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2648_2649del (p.Val883fs) |
microsatellite |
Wilson disease [RCV003062598]|not provided [RCV003481371] |
Chr13:51950088..51950089 [GRCh38]
Chr13:52524224..52524225 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1946+1G>A |
single nucleotide variant |
Wilson disease [RCV003062602] |
Chr13:51961836 [GRCh38]
Chr13:52535972 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2092A>C (p.Ile698Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002936203] |
Chr13:51960177 [GRCh38]
Chr13:52534313 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4036A>G (p.Ile1346Val) |
single nucleotide variant |
Wilson disease [RCV003090000] |
Chr13:51935681 [GRCh38]
Chr13:52509817 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3929G>A (p.Ser1310Asn) |
single nucleotide variant |
Wilson disease [RCV003064824] |
Chr13:51937368 [GRCh38]
Chr13:52511504 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.825T>C (p.Ile275=) |
single nucleotide variant |
Wilson disease [RCV003010121] |
Chr13:51974395 [GRCh38]
Chr13:52548531 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1285+3A>G |
single nucleotide variant |
Wilson disease [RCV002810678] |
Chr13:51973932 [GRCh38]
Chr13:52548068 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.383G>A (p.Gly128Glu) |
single nucleotide variant |
Wilson disease [RCV002834511] |
Chr13:51974837 [GRCh38]
Chr13:52548973 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3616G>C (p.Val1206Leu) |
single nucleotide variant |
Wilson disease [RCV003030685] |
Chr13:51939134 [GRCh38]
Chr13:52513270 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3753G>A (p.Lys1251=) |
single nucleotide variant |
Wilson disease [RCV003048670] |
Chr13:51937626 [GRCh38]
Chr13:52511762 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.678G>T (p.Arg226=) |
single nucleotide variant |
Wilson disease [RCV002833707] |
Chr13:51974542 [GRCh38]
Chr13:52548678 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1695C>T (p.Asn565=) |
single nucleotide variant |
Wilson disease [RCV002649952] |
Chr13:51968456 [GRCh38]
Chr13:52542592 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4125-15G>C |
single nucleotide variant |
Wilson disease [RCV003060173] |
Chr13:51935044 [GRCh38]
Chr13:52509180 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3903+6C>A |
single nucleotide variant |
Wilson disease [RCV002650799] |
Chr13:51937470 [GRCh38]
Chr13:52511606 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.151C>T (p.Leu51=) |
single nucleotide variant |
Wilson disease [RCV003064779] |
Chr13:51975069 [GRCh38]
Chr13:52549205 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.22A>G (p.Ile8Val) |
single nucleotide variant |
Wilson disease [RCV002770715] |
Chr13:52011316 [GRCh38]
Chr13:52585452 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1080C>T (p.Thr360=) |
single nucleotide variant |
Wilson disease [RCV002937681] |
Chr13:51974140 [GRCh38]
Chr13:52548276 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.33A>T (p.Arg11Ser) |
single nucleotide variant |
Wilson disease [RCV003065747] |
Chr13:52011305 [GRCh38]
Chr13:52585441 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2426G>A (p.Gly809Asp) |
single nucleotide variant |
Wilson disease [RCV003087466] |
Chr13:51957537 [GRCh38]
Chr13:52531673 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4230G>A (p.Trp1410Ter) |
single nucleotide variant |
Wilson disease [RCV003062589] |
Chr13:51934924 [GRCh38]
Chr13:52509060 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs) |
deletion |
Wilson disease [RCV003062592]|not provided [RCV003481369] |
Chr13:51941089..51941090 [GRCh38]
Chr13:52515225..52515226 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2957C>T (p.Ser986Phe) |
single nucleotide variant |
Wilson disease [RCV003062595] |
Chr13:51946387 [GRCh38]
Chr13:52520523 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His) |
single nucleotide variant |
Wilson disease [RCV003062603]|not specified [RCV004765638] |
Chr13:51968557 [GRCh38]
Chr13:52542693 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter) |
single nucleotide variant |
Wilson disease [RCV002646181] |
Chr13:51960320 [GRCh38]
Chr13:52534456 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2448-37_2448-19dup |
duplication |
Wilson disease [RCV003061468] |
Chr13:51950417..51950418 [GRCh38]
Chr13:52524553..52524554 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3750C>T (p.Ala1250=) |
single nucleotide variant |
Wilson disease [RCV003048440] |
Chr13:51937629 [GRCh38]
Chr13:52511765 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.556A>G (p.Thr186Ala) |
single nucleotide variant |
Wilson disease [RCV003089726] |
Chr13:51974664 [GRCh38]
Chr13:52548800 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.814G>C (p.Val272Leu) |
single nucleotide variant |
Wilson disease [RCV003064987] |
Chr13:51974406 [GRCh38]
Chr13:52548542 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3325G>A (p.Val1109Met) |
single nucleotide variant |
Wilson disease [RCV003060916] |
Chr13:51942473 [GRCh38]
Chr13:52516609 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1855A>G (p.Ile619Val) |
single nucleotide variant |
Wilson disease [RCV002895207] |
Chr13:51964886 [GRCh38]
Chr13:52539022 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.449A>C (p.Glu150Ala) |
single nucleotide variant |
Wilson disease [RCV002649413] |
Chr13:51974771 [GRCh38]
Chr13:52548907 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1568T>C (p.Leu523Ser) |
single nucleotide variant |
Wilson disease [RCV002671907] |
Chr13:51968583 [GRCh38]
Chr13:52542719 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.51+17C>T |
single nucleotide variant |
Wilson disease [RCV002933495] |
Chr13:52011270 [GRCh38]
Chr13:52585406 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3819G>A (p.Pro1273=) |
single nucleotide variant |
Inborn genetic diseases [RCV003377852]|Wilson disease [RCV003060517] |
Chr13:51937560 [GRCh38]
Chr13:52511696 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2730+13T>A |
single nucleotide variant |
Wilson disease [RCV002632246] |
Chr13:51949994 [GRCh38]
Chr13:52524130 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2485G>C (p.Asp829His) |
single nucleotide variant |
Wilson disease [RCV003061598] |
Chr13:51950362 [GRCh38]
Chr13:52524498 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.599A>G (p.His200Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004963360]|Wilson disease [RCV003064180] |
Chr13:51974621 [GRCh38]
Chr13:52548757 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.52011769G>C |
single nucleotide variant |
Wilson disease [RCV002770917] |
Chr13:52011769 [GRCh38]
Chr13:52585905 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1224T>C (p.Ile408=) |
single nucleotide variant |
Wilson disease [RCV003049918] |
Chr13:51973996 [GRCh38]
Chr13:52548132 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1823T>C (p.Phe608Ser) |
single nucleotide variant |
Wilson disease [RCV002633808] |
Chr13:51964918 [GRCh38]
Chr13:52539054 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3243+16C>T |
single nucleotide variant |
Wilson disease [RCV003051216] |
Chr13:51944093 [GRCh38]
Chr13:52518229 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.748G>A (p.Gly250Arg) |
single nucleotide variant |
Wilson disease [RCV003066827] |
Chr13:51974472 [GRCh38]
Chr13:52548608 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn) |
single nucleotide variant |
Wilson disease [RCV003068716] |
Chr13:51934848 [GRCh38]
Chr13:52508984 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.210del (p.Gln70fs) |
deletion |
Wilson disease [RCV002635194] |
Chr13:51975010 [GRCh38]
Chr13:52549146 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2576-15C>G |
single nucleotide variant |
Wilson disease [RCV002633555] |
Chr13:51950176 [GRCh38]
Chr13:52524312 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1472T>G (p.Phe491Cys) |
single nucleotide variant |
Wilson disease [RCV002584864] |
Chr13:51970563 [GRCh38]
Chr13:52544699 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2118C>T (p.Val706=) |
single nucleotide variant |
Wilson disease [RCV002942291] |
Chr13:51960151 [GRCh38]
Chr13:52534287 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4125-15G>A |
single nucleotide variant |
Wilson disease [RCV003068407] |
Chr13:51935044 [GRCh38]
Chr13:52509180 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.906C>T (p.Asp302=) |
single nucleotide variant |
Wilson disease [RCV002634682] |
Chr13:51974314 [GRCh38]
Chr13:52548450 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser) |
single nucleotide variant |
Wilson disease [RCV003069214] |
Chr13:51942506 [GRCh38]
Chr13:52516642 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3061-20G>A |
single nucleotide variant |
Wilson disease [RCV003051295] |
Chr13:51944311 [GRCh38]
Chr13:52518447 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2811G>A (p.Val937=) |
single nucleotide variant |
Wilson disease [RCV003050983] |
Chr13:51949716 [GRCh38]
Chr13:52523852 [GRCh37]
Chr13:13q14.3 |
likely benign|uncertain significance |
| NM_000053.4(ATP7B):c.1986C>T (p.Ile662=) |
single nucleotide variant |
Wilson disease [RCV003069222] |
Chr13:51960283 [GRCh38]
Chr13:52534419 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4316C>G (p.Ser1439Cys) |
single nucleotide variant |
Wilson disease [RCV003067075] |
Chr13:51934838 [GRCh38]
Chr13:52508974 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.206G>T (p.Cys69Phe) |
single nucleotide variant |
Wilson disease [RCV002814464] |
Chr13:51975014 [GRCh38]
Chr13:52549150 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3904-17G>A |
single nucleotide variant |
Wilson disease [RCV002584483] |
Chr13:51937410 [GRCh38]
Chr13:52511546 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.353A>G (p.Asp118Gly) |
single nucleotide variant |
Wilson disease [RCV003069631] |
Chr13:51974867 [GRCh38]
Chr13:52549003 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1670A>G (p.Glu557Gly) |
single nucleotide variant |
Wilson disease [RCV002582747] |
Chr13:51968481 [GRCh38]
Chr13:52542617 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1870-4C>T |
single nucleotide variant |
Wilson disease [RCV003051386] |
Chr13:51961917 [GRCh38]
Chr13:52536053 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1957T>G (p.Ser653Ala) |
single nucleotide variant |
Wilson disease [RCV003092483] |
Chr13:51960312 [GRCh38]
Chr13:52534448 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.107G>C (p.Ser36Thr) |
single nucleotide variant |
Wilson disease [RCV002944127] |
Chr13:51975113 [GRCh38]
Chr13:52549249 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2387T>A (p.Met796Lys) |
single nucleotide variant |
Wilson disease [RCV002814416] |
Chr13:51957576 [GRCh38]
Chr13:52531712 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3094A>G (p.Ile1032Val) |
single nucleotide variant |
Wilson disease [RCV002584790] |
Chr13:51944258 [GRCh38]
Chr13:52518394 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2698G>A (p.Val900Met) |
single nucleotide variant |
Wilson disease [RCV003050305] |
Chr13:51950039 [GRCh38]
Chr13:52524175 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4174A>T (p.Met1392Leu) |
single nucleotide variant |
Wilson disease [RCV003071393] |
Chr13:51934980 [GRCh38]
Chr13:52509116 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2836G>A (p.Asp946Asn) |
single nucleotide variant |
Wilson disease [RCV003067609] |
Chr13:51949691 [GRCh38]
Chr13:52523827 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.676_677del (p.Arg226fs) |
deletion |
Wilson disease [RCV002654687]|not provided [RCV004790398] |
Chr13:51974543..51974544 [GRCh38]
Chr13:52548679..52548680 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1731C>T (p.Ser577=) |
single nucleotide variant |
Wilson disease [RCV003072723] |
Chr13:51965010 [GRCh38]
Chr13:52539146 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4125-4C>G |
single nucleotide variant |
Wilson disease [RCV002676983] |
Chr13:51935033 [GRCh38]
Chr13:52509169 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1502C>T (p.Ser501Phe) |
single nucleotide variant |
Wilson disease [RCV003071789] |
Chr13:51970533 [GRCh38]
Chr13:52544669 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.264C>T (p.Ser88=) |
single nucleotide variant |
Wilson disease [RCV003072948] |
Chr13:51974956 [GRCh38]
Chr13:52549092 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2356-18A>G |
single nucleotide variant |
Wilson disease [RCV003093306] |
Chr13:51957625 [GRCh38]
Chr13:52531761 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1013A>G (p.His338Arg) |
single nucleotide variant |
Wilson disease [RCV003068705] |
Chr13:51974207 [GRCh38]
Chr13:52548343 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr) |
single nucleotide variant |
Wilson disease [RCV003092784] |
Chr13:51939173 [GRCh38]
Chr13:52513309 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1155A>G (p.Glu385=) |
single nucleotide variant |
Wilson disease [RCV002583778] |
Chr13:51974065 [GRCh38]
Chr13:52548201 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2550C>T (p.Thr850=) |
single nucleotide variant |
Wilson disease [RCV003050066] |
Chr13:51950297 [GRCh38]
Chr13:52524433 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1172del (p.Ser391fs) |
deletion |
Wilson disease [RCV003073328] |
Chr13:51974048 [GRCh38]
Chr13:52548184 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2675A>G (p.Asn892Ser) |
single nucleotide variant |
Wilson disease [RCV003066731] |
Chr13:51950062 [GRCh38]
Chr13:52524198 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.512T>C (p.Val171Ala) |
single nucleotide variant |
Wilson disease [RCV003050775] |
Chr13:51974708 [GRCh38]
Chr13:52548844 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2068C>A (p.Pro690Thr) |
single nucleotide variant |
Wilson disease [RCV002586451] |
Chr13:51960201 [GRCh38]
Chr13:52534337 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4022-13C>T |
single nucleotide variant |
Wilson disease [RCV003071237] |
Chr13:51935708 [GRCh38]
Chr13:52509844 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-18G>C |
single nucleotide variant |
Wilson disease [RCV003071238] |
Chr13:51935713 [GRCh38]
Chr13:52509849 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4174A>G (p.Met1392Val) |
single nucleotide variant |
Wilson disease [RCV003071287] |
Chr13:51934980 [GRCh38]
Chr13:52509116 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3099C>T (p.Thr1033=) |
single nucleotide variant |
Wilson disease [RCV002610942] |
Chr13:51944253 [GRCh38]
Chr13:52518389 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-16G>A |
single nucleotide variant |
Wilson disease [RCV002605790] |
Chr13:51939209 [GRCh38]
Chr13:52513345 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3472G>C (p.Gly1158Arg) |
single nucleotide variant |
Wilson disease [RCV003069373] |
Chr13:51941165 [GRCh38]
Chr13:52515301 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3060+16G>A |
single nucleotide variant |
Wilson disease [RCV003071662] |
Chr13:51946268 [GRCh38]
Chr13:52520404 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+8G>A |
single nucleotide variant |
Wilson disease [RCV002609374] |
Chr13:51937268 [GRCh38]
Chr13:52511404 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1170A>G (p.Ile390Met) |
single nucleotide variant |
Wilson disease [RCV002604629] |
Chr13:51974050 [GRCh38]
Chr13:52548186 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.52-15T>A |
single nucleotide variant |
Wilson disease [RCV003068026] |
Chr13:51975183 [GRCh38]
Chr13:52549319 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2374C>G (p.Leu792Val) |
single nucleotide variant |
Wilson disease [RCV002611328] |
Chr13:51957589 [GRCh38]
Chr13:52531725 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1912G>T (p.Ala638Ser) |
single nucleotide variant |
Wilson disease [RCV002653310] |
Chr13:51961871 [GRCh38]
Chr13:52536007 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.913T>C (p.Cys305Arg) |
single nucleotide variant |
Wilson disease [RCV002653315] |
Chr13:51974307 [GRCh38]
Chr13:52548443 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1401T>C (p.Pro467=) |
single nucleotide variant |
Wilson disease [RCV002725371] |
Chr13:51970634 [GRCh38]
Chr13:52544770 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.76A>G (p.Thr26Ala) |
single nucleotide variant |
Wilson disease [RCV003068422] |
Chr13:51975144 [GRCh38]
Chr13:52549280 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1174G>T (p.Val392Leu) |
single nucleotide variant |
Wilson disease [RCV002611801]|not provided [RCV004790378] |
Chr13:51974046 [GRCh38]
Chr13:52548182 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3413-11C>G |
single nucleotide variant |
Wilson disease [RCV003070184] |
Chr13:51941235 [GRCh38]
Chr13:52515371 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2413G>A (p.Val805Ile) |
single nucleotide variant |
Wilson disease [RCV003068589] |
Chr13:51957550 [GRCh38]
Chr13:52531686 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.106A>T (p.Ser36Cys) |
single nucleotide variant |
ATP7B-related disorder [RCV003395614]|Wilson disease [RCV002612228] |
Chr13:51975114 [GRCh38]
Chr13:52549250 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro) |
single nucleotide variant |
Wilson disease [RCV002942124] |
Chr13:51970594 [GRCh38]
Chr13:52544730 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3413-20C>G |
single nucleotide variant |
Wilson disease [RCV003068971] |
Chr13:51941244 [GRCh38]
Chr13:52515380 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1946+5dup |
duplication |
not specified [RCV003155644] |
Chr13:51961831..51961832 [GRCh38]
Chr13:52535967..52535968 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4003G>C (p.Gly1335Arg) |
single nucleotide variant |
Wilson disease [RCV004797302] |
Chr13:51937294 [GRCh38]
Chr13:52511430 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1289G>T (p.Ser430Ile) |
single nucleotide variant |
not provided [RCV003393321] |
Chr13:51970746 [GRCh38]
Chr13:52544882 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2029dup (p.Glu677fs) |
duplication |
not provided [RCV004792256] |
Chr13:51960239..51960240 [GRCh38]
Chr13:52534375..52534376 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1869+1G>T |
single nucleotide variant |
Wilson disease [RCV004805143]|not provided [RCV004792257] |
Chr13:51964871 [GRCh38]
Chr13:52539007 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.530C>A (p.Ser177Ter) |
single nucleotide variant |
not provided [RCV004792258] |
Chr13:51974690 [GRCh38]
Chr13:52548826 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3563T>G (p.Leu1188Arg) |
single nucleotide variant |
Wilson disease [RCV004796580] |
Chr13:51939187 [GRCh38]
Chr13:52513323 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1947-2A>G |
single nucleotide variant |
not provided [RCV003222792] |
Chr13:51960324 [GRCh38]
Chr13:52534460 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4323C>G (p.His1441Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003187824]|Wilson disease [RCV004009659] |
Chr13:51934831 [GRCh38]
Chr13:52508967 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1081A>T (p.Thr361Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003187825] |
Chr13:51974139 [GRCh38]
Chr13:52548275 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3418G>A (p.Val1140Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003193265] |
Chr13:51941219 [GRCh38]
Chr13:52515355 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2543G>A (p.Gly848Asp) |
single nucleotide variant |
Wilson disease [RCV003143664] |
Chr13:51950304 [GRCh38]
Chr13:52524440 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1076G>A (p.Ser359Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003283409] |
Chr13:51974144 [GRCh38]
Chr13:52548280 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3458G>A (p.Trp1153Ter) |
single nucleotide variant |
Wilson disease [RCV003136663] |
Chr13:51941179 [GRCh38]
Chr13:52515315 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3190dup (p.Glu1064fs) |
duplication |
Wilson disease [RCV003136752] |
Chr13:51944161..51944162 [GRCh38]
Chr13:52518297..52518298 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2152delinsTCC (p.Ala718fs) |
indel |
Wilson disease [RCV003136853] |
Chr13:51958514 [GRCh38]
Chr13:52532650 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1603G>A (p.Glu535Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003220391] |
Chr13:51968548 [GRCh38]
Chr13:52542684 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3550dup (p.Ile1184fs) |
duplication |
Wilson disease [RCV003227575] |
Chr13:51941086..51941087 [GRCh38]
Chr13:52515222..52515223 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2356-2A>T |
single nucleotide variant |
Wilson disease [RCV003226770] |
Chr13:51957609 [GRCh38]
Chr13:52531745 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser) |
single nucleotide variant |
Wilson disease [RCV004009738]|not provided [RCV004546791]|not specified [RCV003324366] |
Chr13:51935659 [GRCh38]
Chr13:52509795 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.199A>G (p.Met67Val) |
single nucleotide variant |
Wilson disease [RCV005012871]|not specified [RCV003324375] |
Chr13:51975021 [GRCh38]
Chr13:52549157 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3056A>G (p.His1019Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003286889] |
Chr13:51946288 [GRCh38]
Chr13:52520424 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=) |
single nucleotide variant |
Inborn genetic diseases [RCV004676190]|Wilson disease [RCV003322655] |
Chr13:51937283 [GRCh38]
Chr13:52511419 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.712T>C (p.Ser238Pro) |
single nucleotide variant |
not specified [RCV004800167] |
Chr13:51974508 [GRCh38]
Chr13:52548644 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4144G>A (p.Glu1382Lys) |
single nucleotide variant |
Wilson disease [RCV004807528] |
Chr13:51935010 [GRCh38]
Chr13:52509146 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4120A>C (p.Lys1374Gln) |
single nucleotide variant |
Wilson disease [RCV004807532] |
Chr13:51935597 [GRCh38]
Chr13:52509733 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2212A>C (p.Ser738Arg) |
single nucleotide variant |
Wilson disease [RCV003337803] |
Chr13:51958454 [GRCh38]
Chr13:52532590 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2866-1521G>A |
single nucleotide variant |
not provided [RCV003326881] |
Chr13:51947999 [GRCh38]
Chr13:52522135 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.51+3G>C |
single nucleotide variant |
not provided [RCV003326882] |
Chr13:52011284 [GRCh38]
Chr13:52585420 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3209C>G (p.Pro1070Arg) |
single nucleotide variant |
not provided [RCV003328934]|not specified [RCV004526983] |
Chr13:51944143 [GRCh38]
Chr13:52518279 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.2040G>C (p.Gln680His) |
single nucleotide variant |
not provided [RCV003329645] |
Chr13:51960229 [GRCh38]
Chr13:52534365 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.431T>C (p.Val144Ala) |
single nucleotide variant |
Wilson disease [RCV003340905] |
Chr13:51974789 [GRCh38]
Chr13:52548925 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2290T>C (p.Phe764Leu) |
single nucleotide variant |
not specified [RCV003332023] |
Chr13:51958376 [GRCh38]
Chr13:52532512 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2666A>T (p.His889Leu) |
single nucleotide variant |
not specified [RCV003331799] |
Chr13:51950071 [GRCh38]
Chr13:52524207 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3266G>T (p.Gly1089Val) |
single nucleotide variant |
not specified [RCV003331800] |
Chr13:51942532 [GRCh38]
Chr13:52516668 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1631A>G (p.Gln544Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003352407] |
Chr13:51968520 [GRCh38]
Chr13:52542656 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter) |
single nucleotide variant |
Wilson disease [RCV003464930] |
Chr13:51960315 [GRCh38]
Chr13:52534451 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1436del (p.Pro479fs) |
deletion |
Wilson disease [RCV003464933] |
Chr13:51970599 [GRCh38]
Chr13:52544735 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1543+1G>A |
single nucleotide variant |
Wilson disease [RCV003464939] |
Chr13:51970491 [GRCh38]
Chr13:52544627 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3044T>C (p.Leu1015Pro) |
single nucleotide variant |
Wilson disease [RCV003464942] |
Chr13:51946300 [GRCh38]
Chr13:52520436 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1883_1884del (p.His628fs) |
deletion |
Wilson disease [RCV003464945] |
Chr13:51961899..51961900 [GRCh38]
Chr13:52536035..52536036 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2307G>T (p.Met769Ile) |
single nucleotide variant |
Wilson disease [RCV003464954]|not specified [RCV005062968] |
Chr13:51958359 [GRCh38]
Chr13:52532495 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.3772_3775dup (p.Gly1259fs) |
duplication |
Wilson disease [RCV003464955] |
Chr13:51937603..51937604 [GRCh38]
Chr13:52511739..52511740 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala) |
single nucleotide variant |
Wilson disease [RCV003464958] |
Chr13:51935633 [GRCh38]
Chr13:52509769 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1675dup (p.Tyr559fs) |
duplication |
Wilson disease [RCV003464959] |
Chr13:51968475..51968476 [GRCh38]
Chr13:52542611..52542612 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.841del (p.Gln281fs) |
deletion |
Wilson disease [RCV003464962] |
Chr13:51974379 [GRCh38]
Chr13:52548515 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.839del (p.Gly280fs) |
deletion |
Wilson disease [RCV003464964] |
Chr13:51974381 [GRCh38]
Chr13:52548517 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.71del (p.Leu24fs) |
deletion |
Wilson disease [RCV003464967] |
Chr13:51975149 [GRCh38]
Chr13:52549285 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1947-8C>A |
single nucleotide variant |
Wilson disease [RCV003503161] |
Chr13:51960330 [GRCh38]
Chr13:52534466 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.198C>G (p.Gly66=) |
single nucleotide variant |
Wilson disease [RCV003503217] |
Chr13:51975022 [GRCh38]
Chr13:52549158 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2976C>G (p.Pro992=) |
single nucleotide variant |
Wilson disease [RCV003503284] |
Chr13:51946368 [GRCh38]
Chr13:52520504 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1965G>C (p.Leu655=) |
single nucleotide variant |
Wilson disease [RCV003503255] |
Chr13:51960304 [GRCh38]
Chr13:52534440 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2896del (p.Glu965_Val966insTer) |
deletion |
Wilson disease [RCV003503200] |
Chr13:51946448 [GRCh38]
Chr13:52520584 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3283C>T (p.Gln1095Ter) |
single nucleotide variant |
Wilson disease [RCV003503301] |
Chr13:51942515 [GRCh38]
Chr13:52516651 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4145_4148dup (p.Tyr1384fs) |
microsatellite |
Wilson disease [RCV003503296] |
Chr13:51935005..51935006 [GRCh38]
Chr13:52509141..52509142 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.51+16C>T |
single nucleotide variant |
Wilson disease [RCV003503359] |
Chr13:52011271 [GRCh38]
Chr13:52585407 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1660_1666dup (p.Met556fs) |
duplication |
Wilson disease [RCV003503401] |
Chr13:51968484..51968485 [GRCh38]
Chr13:52542620..52542621 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1386C>T (p.His462=) |
single nucleotide variant |
Wilson disease [RCV003503417] |
Chr13:51970649 [GRCh38]
Chr13:52544785 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1352del (p.Gly451fs) |
deletion |
Wilson disease [RCV003503512] |
Chr13:51970683 [GRCh38]
Chr13:52544819 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4022-18G>A |
single nucleotide variant |
Wilson disease [RCV003503925] |
Chr13:51935713 [GRCh38]
Chr13:52509849 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2871C>T (p.Pro957=) |
single nucleotide variant |
Wilson disease [RCV003503202] |
Chr13:51946473 [GRCh38]
Chr13:52520609 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.132del (p.Gly43_Tyr44insTer) |
deletion |
Wilson disease [RCV003474238] |
Chr13:51975088 [GRCh38]
Chr13:52549224 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1517_1518del (p.Ile506fs) |
deletion |
Wilson disease [RCV003474241] |
Chr13:51970517..51970518 [GRCh38]
Chr13:52544653..52544654 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2356-20A>G |
single nucleotide variant |
Wilson disease [RCV003503403] |
Chr13:51957627 [GRCh38]
Chr13:52531763 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3904-11C>T |
single nucleotide variant |
Wilson disease [RCV003503424]|not provided [RCV004703323] |
Chr13:51937404 [GRCh38]
Chr13:52511540 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2866-10C>T |
single nucleotide variant |
Wilson disease [RCV003503387] |
Chr13:51946488 [GRCh38]
Chr13:52520624 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3060+8T>G |
single nucleotide variant |
Wilson disease [RCV003503492] |
Chr13:51946276 [GRCh38]
Chr13:52520412 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1946+3A>G |
single nucleotide variant |
not provided [RCV003482101] |
Chr13:51961834 [GRCh38]
Chr13:52535970 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.312A>G (p.Pro104=) |
single nucleotide variant |
Wilson disease [RCV003503557] |
Chr13:51974908 [GRCh38]
Chr13:52549044 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3556+16G>T |
single nucleotide variant |
Wilson disease [RCV003503593] |
Chr13:51941065 [GRCh38]
Chr13:52515201 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1708-9G>A |
single nucleotide variant |
Wilson disease [RCV003503529] |
Chr13:51965042 [GRCh38]
Chr13:52539178 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2034C>A (p.Pro678=) |
single nucleotide variant |
Wilson disease [RCV003503569] |
Chr13:51960235 [GRCh38]
Chr13:52534371 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.408G>A (p.Arg136=) |
single nucleotide variant |
Wilson disease [RCV003503574] |
Chr13:51974812 [GRCh38]
Chr13:52548948 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.129C>T (p.Gly43=) |
single nucleotide variant |
Wilson disease [RCV003503575] |
Chr13:51975091 [GRCh38]
Chr13:52549227 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1713A>G (p.Thr571=) |
single nucleotide variant |
Wilson disease [RCV003503612] |
Chr13:51965028 [GRCh38]
Chr13:52539164 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-19dup |
duplication |
Wilson disease [RCV003504431] |
Chr13:51939211..51939212 [GRCh38]
Chr13:52513347..52513348 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3244-17T>G |
single nucleotide variant |
Wilson disease [RCV003504478] |
Chr13:51942571 [GRCh38]
Chr13:52516707 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2310dup (p.Phe771fs) |
duplication |
Wilson disease [RCV003503765] |
Chr13:51958355..51958356 [GRCh38]
Chr13:52532491..52532492 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.570T>A (p.Tyr190Ter) |
single nucleotide variant |
Wilson disease [RCV003503669] |
Chr13:51974650 [GRCh38]
Chr13:52548786 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.834T>C (p.Asn278=) |
single nucleotide variant |
Wilson disease [RCV003503643] |
Chr13:51974386 [GRCh38]
Chr13:52548522 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3955C>A (p.Arg1319=) |
single nucleotide variant |
Wilson disease [RCV003503700] |
Chr13:51937342 [GRCh38]
Chr13:52511478 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2228_2229insACA (p.Tyr743Ter) |
insertion |
Wilson disease [RCV003503641] |
Chr13:51958437..51958438 [GRCh38]
Chr13:52532573..52532574 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2355+16G>A |
single nucleotide variant |
Wilson disease [RCV003503774] |
Chr13:51958295 [GRCh38]
Chr13:52532431 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3246A>G (p.Glu1082=) |
single nucleotide variant |
Wilson disease [RCV003504102] |
Chr13:51942552 [GRCh38]
Chr13:52516688 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3900C>T (p.Ile1300=) |
single nucleotide variant |
Wilson disease [RCV003503953] |
Chr13:51937479 [GRCh38]
Chr13:52511615 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1870-17C>G |
single nucleotide variant |
Wilson disease [RCV003504078] |
Chr13:51961930 [GRCh38]
Chr13:52536066 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2255_2262dup (p.Lys755fs) |
duplication |
Wilson disease [RCV003875359] |
Chr13:51958403..51958404 [GRCh38]
Chr13:52532539..52532540 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1869+12A>T |
single nucleotide variant |
Wilson disease [RCV003875377] |
Chr13:51964860 [GRCh38]
Chr13:52538996 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.768_771dup (p.Thr258fs) |
duplication |
Wilson disease [RCV003503894] |
Chr13:51974448..51974449 [GRCh38]
Chr13:52548584..52548585 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.678del (p.Leu227fs) |
deletion |
Wilson disease [RCV003464931] |
Chr13:51974542 [GRCh38]
Chr13:52548678 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3524_3528del (p.Lys1175fs) |
deletion |
Wilson disease [RCV003464940] |
Chr13:51941109..51941113 [GRCh38]
Chr13:52515245..52515249 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2121+1G>T |
single nucleotide variant |
Wilson disease [RCV003464941] |
Chr13:51960147 [GRCh38]
Chr13:52534283 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1383C>G (p.Pro461=) |
single nucleotide variant |
Wilson disease [RCV003503905] |
Chr13:51970652 [GRCh38]
Chr13:52544788 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2601A>G (p.Lys867=) |
single nucleotide variant |
Wilson disease [RCV003504417] |
Chr13:51950136 [GRCh38]
Chr13:52524272 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1870-20C>T |
single nucleotide variant |
Wilson disease [RCV003504276] |
Chr13:51961933 [GRCh38]
Chr13:52536069 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2415_2416insA (p.Val806fs) |
insertion |
Wilson disease [RCV003504411] |
Chr13:51957547..51957548 [GRCh38]
Chr13:52531683..52531684 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1869+14T>A |
single nucleotide variant |
Wilson disease [RCV003875373] |
Chr13:51964858 [GRCh38]
Chr13:52538994 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3610C>T (p.Leu1204=) |
single nucleotide variant |
Wilson disease [RCV003503951] |
Chr13:51939140 [GRCh38]
Chr13:52513276 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2135G>A (p.Trp712Ter) |
single nucleotide variant |
Wilson disease [RCV003503968] |
Chr13:51958531 [GRCh38]
Chr13:52532667 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3543_3551delinsTCTGC (p.Val1182fs) |
indel |
Wilson disease [RCV003464960] |
Chr13:51941086..51941094 [GRCh38]
Chr13:52515222..52515230 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1544-20C>A |
single nucleotide variant |
Wilson disease [RCV003503956] |
Chr13:51968627 [GRCh38]
Chr13:52542763 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1000dup (p.Ser334fs) |
duplication |
Wilson disease [RCV003504017] |
Chr13:51974219..51974220 [GRCh38]
Chr13:52548355..52548356 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4104C>T (p.Leu1368=) |
single nucleotide variant |
Wilson disease [RCV003504460] |
Chr13:51935613 [GRCh38]
Chr13:52509749 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2682C>T (p.Thr894=) |
single nucleotide variant |
Wilson disease [RCV003504544] |
Chr13:51950055 [GRCh38]
Chr13:52524191 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4116G>C (p.Gln1372His) |
single nucleotide variant |
Wilson disease [RCV003504083] |
Chr13:51935601 [GRCh38]
Chr13:52509737 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1450G>A (p.Ala484Thr) |
single nucleotide variant |
Wilson disease [RCV003504085] |
Chr13:51970585 [GRCh38]
Chr13:52544721 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3813C>T (p.Asp1271=) |
single nucleotide variant |
Wilson disease [RCV003504089] |
Chr13:51937566 [GRCh38]
Chr13:52511702 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1017del (p.Arg339fs) |
deletion |
Wilson disease [RCV003504063] |
Chr13:51974203 [GRCh38]
Chr13:52548339 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2473G>A (p.Val825Met) |
single nucleotide variant |
Wilson disease [RCV003504084] |
Chr13:51950374 [GRCh38]
Chr13:52524510 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1494del (p.Cys499fs) |
deletion |
Wilson disease [RCV003504576] |
Chr13:51970541 [GRCh38]
Chr13:52544677 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3938T>C (p.Leu1313Pro) |
single nucleotide variant |
Wilson disease [RCV003504571] |
Chr13:51937359 [GRCh38]
Chr13:52511495 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2231C>G (p.Ser744Cys) |
single nucleotide variant |
Wilson disease [RCV003503993] |
Chr13:51958435 [GRCh38]
Chr13:52532571 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3437_3438del (p.Val1146fs) |
microsatellite |
Wilson disease [RCV003464934] |
Chr13:51941199..51941200 [GRCh38]
Chr13:52515335..52515336 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3258_3259del (p.Glu1086fs) |
microsatellite |
Wilson disease [RCV003464936] |
Chr13:51942539..51942540 [GRCh38]
Chr13:52516675..52516676 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3283del (p.Gln1095fs) |
deletion |
Wilson disease [RCV003464949] |
Chr13:51942515 [GRCh38]
Chr13:52516651 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4124+1G>T |
single nucleotide variant |
Wilson disease [RCV003464956] |
Chr13:51935592 [GRCh38]
Chr13:52509728 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2152del (p.Ala718fs) |
deletion |
Wilson disease [RCV003464957] |
Chr13:51958514 [GRCh38]
Chr13:52532650 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3704G>A (p.Gly1235Asp) |
single nucleotide variant |
Wilson disease [RCV003464961] |
Chr13:51937675 [GRCh38]
Chr13:52511811 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1296T>A (p.Ser432=) |
single nucleotide variant |
Wilson disease [RCV003504348] |
Chr13:51970739 [GRCh38]
Chr13:52544875 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2122-4T>C |
single nucleotide variant |
Wilson disease [RCV003504236] |
Chr13:51958548 [GRCh38]
Chr13:52532684 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2526T>C (p.Asp842=) |
single nucleotide variant |
Wilson disease [RCV003504350] |
Chr13:51950321 [GRCh38]
Chr13:52524457 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4164G>T (p.Ala1388=) |
single nucleotide variant |
Wilson disease [RCV003504296] |
Chr13:51934990 [GRCh38]
Chr13:52509126 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3243+13G>C |
single nucleotide variant |
Wilson disease [RCV003874036] |
Chr13:51944096 [GRCh38]
Chr13:52518232 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3061-3C>A |
single nucleotide variant |
Wilson disease [RCV003504574] |
Chr13:51944294 [GRCh38]
Chr13:52518430 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3122G>C (p.Arg1041Pro) |
single nucleotide variant |
Wilson disease [RCV003504573] |
Chr13:51944230 [GRCh38]
Chr13:52518366 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1477C>T (p.Gln493Ter) |
single nucleotide variant |
Wilson disease [RCV003502863] |
Chr13:51970558 [GRCh38]
Chr13:52544694 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2575+10C>T |
single nucleotide variant |
Wilson disease [RCV003502893] |
Chr13:51950262 [GRCh38]
Chr13:52524398 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3567_3568del (p.Cys1189fs) |
microsatellite |
Wilson disease [RCV003504572] |
Chr13:51939182..51939183 [GRCh38]
Chr13:52513318..52513319 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1869+12A>G |
single nucleotide variant |
Wilson disease [RCV003874756] |
Chr13:51964860 [GRCh38]
Chr13:52538996 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1979T>A (p.Phe660Tyr) |
single nucleotide variant |
not provided [RCV003482099] |
Chr13:51960290 [GRCh38]
Chr13:52534426 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1401T>A (p.Pro467=) |
single nucleotide variant |
Wilson disease [RCV003502997] |
Chr13:51970634 [GRCh38]
Chr13:52544770 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1431G>A (p.Lys477=) |
single nucleotide variant |
Wilson disease [RCV003503077] |
Chr13:51970604 [GRCh38]
Chr13:52544740 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2232T>C (p.Ser744=) |
single nucleotide variant |
Wilson disease [RCV003874627] |
Chr13:51958434 [GRCh38]
Chr13:52532570 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1467G>A (p.Lys489=) |
single nucleotide variant |
Wilson disease [RCV003503368] |
Chr13:51970568 [GRCh38]
Chr13:52544704 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4238_4245del (p.Ser1413fs) |
deletion |
Wilson disease [RCV003502924] |
Chr13:51934909..51934916 [GRCh38]
Chr13:52509045..52509052 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3058A>T (p.Lys1020Ter) |
single nucleotide variant |
Wilson disease [RCV003502841] |
Chr13:51946286 [GRCh38]
Chr13:52520422 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3788C>G (p.Ala1263Gly) |
single nucleotide variant |
Wilson disease [RCV003503004] |
Chr13:51937591 [GRCh38]
Chr13:52511727 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2581G>A (p.Ala861Thr) |
single nucleotide variant |
not specified [RCV003479705] |
Chr13:51950156 [GRCh38]
Chr13:52524292 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1737C>T (p.Val579=) |
single nucleotide variant |
Wilson disease [RCV003872792] |
Chr13:51965004 [GRCh38]
Chr13:52539140 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1947-11T>G |
single nucleotide variant |
Wilson disease [RCV003503760] |
Chr13:51960333 [GRCh38]
Chr13:52534469 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2125C>T (p.Leu709Phe) |
single nucleotide variant |
Wilson disease [RCV003503862] |
Chr13:51958541 [GRCh38]
Chr13:52532677 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1543+19T>C |
single nucleotide variant |
Wilson disease [RCV003503928] |
Chr13:51970473 [GRCh38]
Chr13:52544609 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3700-8dup |
duplication |
Wilson disease [RCV003503027] |
Chr13:51937686..51937687 [GRCh38]
Chr13:52511822..52511823 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.3138G>A (p.Gly1046=) |
single nucleotide variant |
Wilson disease [RCV003503073] |
Chr13:51944214 [GRCh38]
Chr13:52518350 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+9C>T |
single nucleotide variant |
Wilson disease [RCV003503085] |
Chr13:51935584 [GRCh38]
Chr13:52509720 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1781_1797del (p.Tyr594fs) |
deletion |
Wilson disease [RCV003474236] |
Chr13:51964944..51964960 [GRCh38]
Chr13:52539080..52539096 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3316_3317dup (p.Asn1108fs) |
duplication |
Wilson disease [RCV003503462] |
Chr13:51942480..51942481 [GRCh38]
Chr13:52516616..52516617 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1116C>G (p.Ser372=) |
single nucleotide variant |
Wilson disease [RCV003503602] |
Chr13:51974104 [GRCh38]
Chr13:52548240 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2286dup (p.Phe763fs) |
duplication |
Wilson disease [RCV003474243] |
Chr13:51958379..51958380 [GRCh38]
Chr13:52532515..52532516 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2659del (p.Ala887fs) |
deletion |
Wilson disease [RCV003474242] |
Chr13:51950078 [GRCh38]
Chr13:52524214 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2139C>G (p.Tyr713Ter) |
single nucleotide variant |
ATP7B-related disorder [RCV003420891] |
Chr13:51958527 [GRCh38]
Chr13:52532663 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3030G>C (p.Lys1010Asn) |
single nucleotide variant |
not provided [RCV003480446] |
Chr13:51946314 [GRCh38]
Chr13:52520450 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.914G>A (p.Cys305Tyr) |
single nucleotide variant |
not provided [RCV003482103] |
Chr13:51974306 [GRCh38]
Chr13:52548442 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1 |
copy number loss |
not provided [RCV003483182] |
Chr13:51768837..54900165 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3904-1G>A |
single nucleotide variant |
Wilson disease [RCV003445295] |
Chr13:51937394 [GRCh38]
Chr13:52511530 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.365_366delinsGGGCTTCGAA (p.Glu122fs) |
indel |
Wilson disease [RCV003464925] |
Chr13:51974854..51974855 [GRCh38]
Chr13:52548990..52548991 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2407G>A (p.Ala803Thr) |
single nucleotide variant |
Wilson disease [RCV003464927]|not specified [RCV004701071] |
Chr13:51957556 [GRCh38]
Chr13:52531692 [GRCh37]
Chr13:13q14.3 |
pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.881del (p.Asn294fs) |
deletion |
Wilson disease [RCV003464937] |
Chr13:51974339 [GRCh38]
Chr13:52548475 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2976del (p.Thr993fs) |
deletion |
Wilson disease [RCV003464943] |
Chr13:51946368 [GRCh38]
Chr13:52520504 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3200G>A (p.Ser1067Asn) |
single nucleotide variant |
Wilson disease [RCV003464946] |
Chr13:51944152 [GRCh38]
Chr13:52518288 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2447+5G>T |
single nucleotide variant |
Wilson disease [RCV003464948] |
Chr13:51957511 [GRCh38]
Chr13:52531647 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.306T>A (p.Tyr102Ter) |
single nucleotide variant |
Wilson disease [RCV003464951] |
Chr13:51974914 [GRCh38]
Chr13:52549050 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs) |
insertion |
Wilson disease [RCV003464953] |
Chr13:51958424..51958425 [GRCh38]
Chr13:52532560..52532561 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2110del (p.Thr704fs) |
deletion |
not provided [RCV003480447] |
Chr13:51960159 [GRCh38]
Chr13:52534295 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2501T>A (p.Val834Asp) |
single nucleotide variant |
Wilson disease [RCV004011338]|not provided [RCV003482098] |
Chr13:51950346 [GRCh38]
Chr13:52524482 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3743del (p.Lys1248fs) |
deletion |
not provided [RCV003480445] |
Chr13:51937636 [GRCh38]
Chr13:52511772 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe) |
single nucleotide variant |
Wilson disease [RCV003464935] |
Chr13:51939188 [GRCh38]
Chr13:52513324 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1803del (p.Ser602fs) |
deletion |
Wilson disease [RCV003464950] |
Chr13:51964938 [GRCh38]
Chr13:52539074 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr) |
single nucleotide variant |
Wilson disease [RCV003464963] |
Chr13:51937290 [GRCh38]
Chr13:52511426 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3545dup (p.Ala1183fs) |
duplication |
Wilson disease [RCV003464966] |
Chr13:51941091..51941092 [GRCh38]
Chr13:52515227..52515228 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2497dup (p.Val833fs) |
duplication |
Wilson disease [RCV003474237] |
Chr13:51950349..51950350 [GRCh38]
Chr13:52524485..52524486 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1360dup (p.Thr454fs) |
duplication |
Wilson disease [RCV003474240] |
Chr13:51970674..51970675 [GRCh38]
Chr13:52544810..52544811 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.-210A>T |
single nucleotide variant |
not provided [RCV003482479] |
Chr13:52011547 [GRCh38]
Chr13:52585683 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.1219_1220del (p.Val407fs) |
deletion |
Wilson disease [RCV004796471] |
Chr13:51974000..51974001 [GRCh38]
Chr13:52548136..52548137 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1449_1456del (p.Arg483fs) |
deletion |
Wilson disease [RCV004796472] |
Chr13:51970579..51970586 [GRCh38]
Chr13:52544715..52544722 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2230T>A (p.Ser744Thr) |
single nucleotide variant |
Wilson disease [RCV004795565] |
Chr13:51958436 [GRCh38]
Chr13:52532572 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1100G>C (p.Gly367Ala) |
single nucleotide variant |
not specified [RCV003388414] |
Chr13:51974120 [GRCh38]
Chr13:52548256 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1292_1294delinsA (p.Cys431fs) |
indel |
Wilson disease [RCV004574052]|not provided [RCV003480448] |
Chr13:51970741..51970743 [GRCh38]
Chr13:52544877..52544879 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3715G>T (p.Val1239Phe) |
single nucleotide variant |
Wilson disease [RCV004796584] |
Chr13:51937664 [GRCh38]
Chr13:52511800 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3901A>G (p.Arg1301Gly) |
single nucleotide variant |
Wilson disease [RCV004805515]|not provided [RCV003482097] |
Chr13:51937478 [GRCh38]
Chr13:52511614 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1953G>C (p.Lys651Asn) |
single nucleotide variant |
not provided [RCV003482100] |
Chr13:51960316 [GRCh38]
Chr13:52534452 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1654G>C (p.Glu552Gln) |
single nucleotide variant |
Wilson disease [RCV005012989]|not provided [RCV003482102] |
Chr13:51968497 [GRCh38]
Chr13:52542633 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4198del (p.Val1400fs) |
deletion |
Wilson disease [RCV003474239] |
Chr13:51934956 [GRCh38]
Chr13:52509092 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe) |
single nucleotide variant |
Wilson disease [RCV003388390] |
Chr13:51942487 [GRCh38]
Chr13:52516623 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2306T>C (p.Met769Thr) |
single nucleotide variant |
not specified [RCV003388391] |
Chr13:51958360 [GRCh38]
Chr13:52532496 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.447_452delinsC (p.Glu150fs) |
indel |
Wilson disease [RCV003404923] |
Chr13:51974768..51974773 [GRCh38]
Chr13:52548904..52548909 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.216T>C (p.Cys72=) |
single nucleotide variant |
not provided [RCV003393322] |
Chr13:51975004 [GRCh38]
Chr13:52549140 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.38G>A (p.Gly13Glu) |
single nucleotide variant |
not provided [RCV003393323] |
Chr13:52011300 [GRCh38]
Chr13:52585436 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1460C>A (p.Pro487Gln) |
single nucleotide variant |
Wilson disease [RCV003388738] |
Chr13:51970575 [GRCh38]
Chr13:52544711 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1155_1156del (p.Val387fs) |
deletion |
Wilson disease [RCV003464926] |
Chr13:51974064..51974065 [GRCh38]
Chr13:52548200..52548201 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.51+2T>G |
single nucleotide variant |
Wilson disease [RCV003464928] |
Chr13:52011285 [GRCh38]
Chr13:52585421 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1544-2A>G |
single nucleotide variant |
Wilson disease [RCV003464932] |
Chr13:51968609 [GRCh38]
Chr13:52542745 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1908dup (p.Asn637fs) |
duplication |
Wilson disease [RCV003464938] |
Chr13:51961874..51961875 [GRCh38]
Chr13:52536010..52536011 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.291dup (p.Ala98fs) |
duplication |
Wilson disease [RCV003464952] |
Chr13:51974928..51974929 [GRCh38]
Chr13:52549064..52549065 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2355+1G>A |
single nucleotide variant |
Wilson disease [RCV003464965] |
Chr13:51958310 [GRCh38]
Chr13:52532446 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.52-2A>G |
single nucleotide variant |
Wilson disease [RCV003464968] |
Chr13:51975170 [GRCh38]
Chr13:52549306 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2759T>G (p.Phe920Cys) |
single nucleotide variant |
Wilson disease [RCV003388666] |
Chr13:51949768 [GRCh38]
Chr13:52523904 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1707A>G (p.Thr569=) |
single nucleotide variant |
not provided [RCV003393320] |
Chr13:51968444 [GRCh38]
Chr13:52542580 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3819G>C (p.Pro1273=) |
single nucleotide variant |
Wilson disease [RCV003609781] |
Chr13:51937560 [GRCh38]
Chr13:52511696 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3556+10G>T |
single nucleotide variant |
Wilson disease [RCV003609782] |
Chr13:51941071 [GRCh38]
Chr13:52515207 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2122-16T>C |
single nucleotide variant |
Wilson disease [RCV003609934] |
Chr13:51958560 [GRCh38]
Chr13:52532696 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.313T>A (p.Ser105Thr) |
single nucleotide variant |
Wilson disease [RCV003610005] |
Chr13:51974907 [GRCh38]
Chr13:52549043 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4356G>A (p.Trp1452Ter) |
single nucleotide variant |
Wilson disease [RCV003609524] |
Chr13:51934798 [GRCh38]
Chr13:52508934 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.4182C>T (p.Pro1394=) |
single nucleotide variant |
Wilson disease [RCV003608716] |
Chr13:51934972 [GRCh38]
Chr13:52509108 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3952G>C (p.Val1318Leu) |
single nucleotide variant |
Wilson disease [RCV003610004] |
Chr13:51937345 [GRCh38]
Chr13:52511481 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.132T>C (p.Tyr44=) |
single nucleotide variant |
Wilson disease [RCV003610086] |
Chr13:51975088 [GRCh38]
Chr13:52549224 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2222A>C (p.Tyr741Ser) |
single nucleotide variant |
Wilson disease [RCV003610206] |
Chr13:51958444 [GRCh38]
Chr13:52532580 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2445C>T (p.Ile815=) |
single nucleotide variant |
Wilson disease [RCV003608794] |
Chr13:51957518 [GRCh38]
Chr13:52531654 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-5A>G |
single nucleotide variant |
Wilson disease [RCV003608796] |
Chr13:51941229 [GRCh38]
Chr13:52515365 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3379C>T (p.Leu1127=) |
single nucleotide variant |
Wilson disease [RCV003609788] |
Chr13:51942419 [GRCh38]
Chr13:52516555 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1543+14G>C |
single nucleotide variant |
Wilson disease [RCV003609954] |
Chr13:51970478 [GRCh38]
Chr13:52544614 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-13C>A |
single nucleotide variant |
Wilson disease [RCV003609960] |
Chr13:51935708 [GRCh38]
Chr13:52509844 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3556+16G>A |
single nucleotide variant |
Wilson disease [RCV003610095] |
Chr13:51941065 [GRCh38]
Chr13:52515201 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1869+19_1869+20del |
deletion |
Wilson disease [RCV003610099] |
Chr13:51964852..51964853 [GRCh38]
Chr13:52538988..52538989 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.567T>G (p.Pro189=) |
single nucleotide variant |
Wilson disease [RCV003610214] |
Chr13:51974653 [GRCh38]
Chr13:52548789 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1463dup (p.Lys489fs) |
duplication |
Wilson disease [RCV003610275] |
Chr13:51970571..51970572 [GRCh38]
Chr13:52544707..52544708 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3825G>A (p.Leu1275=) |
single nucleotide variant |
Wilson disease [RCV003610274] |
Chr13:51937554 [GRCh38]
Chr13:52511690 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2730+18A>G |
single nucleotide variant |
Wilson disease [RCV003609798] |
Chr13:51949989 [GRCh38]
Chr13:52524125 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2940C>T (p.Cys980=) |
single nucleotide variant |
Wilson disease [RCV003609827] |
Chr13:51946404 [GRCh38]
Chr13:52520540 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.78C>T (p.Thr26=) |
single nucleotide variant |
Wilson disease [RCV003609968] |
Chr13:51975142 [GRCh38]
Chr13:52549278 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.13G>C (p.Glu5Gln) |
single nucleotide variant |
Wilson disease [RCV003610003] |
Chr13:52011325 [GRCh38]
Chr13:52585461 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4084T>A (p.Ser1362Thr) |
single nucleotide variant |
Wilson disease [RCV003610002] |
Chr13:51935633 [GRCh38]
Chr13:52509769 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1329T>C (p.Asn443=) |
single nucleotide variant |
Wilson disease [RCV003610218] |
Chr13:51970706 [GRCh38]
Chr13:52544842 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1629T>C (p.Ala543=) |
single nucleotide variant |
Wilson disease [RCV003610223] |
Chr13:51968522 [GRCh38]
Chr13:52542658 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2327T>C (p.Leu776Pro) |
single nucleotide variant |
Wilson disease [RCV003486020] |
Chr13:51958339 [GRCh38]
Chr13:52532475 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3692C>T (p.Ala1231Val) |
single nucleotide variant |
Wilson disease [RCV003486022] |
Chr13:51939058 [GRCh38]
Chr13:52513194 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.52-1G>A |
single nucleotide variant |
Wilson disease [RCV003608669] |
Chr13:51975169 [GRCh38]
Chr13:52549305 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4124+15G>A |
single nucleotide variant |
Wilson disease [RCV003609842] |
Chr13:51935578 [GRCh38]
Chr13:52509714 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3904-14C>T |
single nucleotide variant |
Wilson disease [RCV003609855] |
Chr13:51937407 [GRCh38]
Chr13:52511543 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3186T>C (p.Thr1062=) |
single nucleotide variant |
Wilson disease [RCV003610228] |
Chr13:51944166 [GRCh38]
Chr13:52518302 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2403A>G (p.Thr801=) |
single nucleotide variant |
Wilson disease [RCV003610062] |
Chr13:51957560 [GRCh38]
Chr13:52531696 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-10T>C |
single nucleotide variant |
Wilson disease [RCV003608997] |
Chr13:51970759 [GRCh38]
Chr13:52544895 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1543+17_1543+18del |
deletion |
Wilson disease [RCV003609814] |
Chr13:51970474..51970475 [GRCh38]
Chr13:52544610..52544611 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3061-14G>A |
single nucleotide variant |
Wilson disease [RCV003609822] |
Chr13:51944305 [GRCh38]
Chr13:52518441 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2536del (p.Leu846fs) |
deletion |
Wilson disease [RCV003610106] |
Chr13:51950311 [GRCh38]
Chr13:52524447 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3162G>A (p.Arg1054=) |
single nucleotide variant |
Wilson disease [RCV003610146] |
Chr13:51944190 [GRCh38]
Chr13:52518326 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1947-17C>T |
single nucleotide variant |
Wilson disease [RCV003878065] |
Chr13:51960339 [GRCh38]
Chr13:52534475 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1434C>T (p.Ser478=) |
single nucleotide variant |
Wilson disease [RCV003609638] |
Chr13:51970601 [GRCh38]
Chr13:52544737 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1543+18A>G |
single nucleotide variant |
Wilson disease [RCV003609973] |
Chr13:51970474 [GRCh38]
Chr13:52544610 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.903T>C (p.Tyr301=) |
single nucleotide variant |
Wilson disease [RCV003609989] |
Chr13:51974317 [GRCh38]
Chr13:52548453 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.4124+13A>G |
single nucleotide variant |
Wilson disease [RCV003608789] |
Chr13:51935580 [GRCh38]
Chr13:52509716 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3795G>C (p.Val1265=) |
single nucleotide variant |
Wilson disease [RCV003608873] |
Chr13:51937584 [GRCh38]
Chr13:52511720 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3225C>T (p.Val1075=) |
single nucleotide variant |
Wilson disease [RCV003609085] |
Chr13:51944127 [GRCh38]
Chr13:52518263 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.51+17del |
deletion |
Wilson disease [RCV003609771] |
Chr13:52011270 [GRCh38]
Chr13:52585406 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.57A>G (p.Leu19=) |
single nucleotide variant |
Wilson disease [RCV003610127] |
Chr13:51975163 [GRCh38]
Chr13:52549299 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2447+17A>G |
single nucleotide variant |
Wilson disease [RCV003608994] |
Chr13:51957499 [GRCh38]
Chr13:52531635 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2880C>T (p.His960=) |
single nucleotide variant |
Wilson disease [RCV003609011] |
Chr13:51946464 [GRCh38]
Chr13:52520600 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3628_3648del (p.Gln1210_Val1216del) |
deletion |
Wilson disease [RCV003609865] |
Chr13:51939102..51939122 [GRCh38]
Chr13:52513238..52513258 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3413-18A>G |
single nucleotide variant |
Wilson disease [RCV003609869] |
Chr13:51941242 [GRCh38]
Chr13:52515378 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4248C>A (p.Ala1416=) |
single nucleotide variant |
Wilson disease [RCV003610144] |
Chr13:51934906 [GRCh38]
Chr13:52509042 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2476_2510del (p.Gln826fs) |
deletion |
Wilson disease [RCV003610287] |
Chr13:51950337..51950371 [GRCh38]
Chr13:52524473..52524507 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2865+18G>C |
single nucleotide variant |
Wilson disease [RCV003609624] |
Chr13:51949644 [GRCh38]
Chr13:52523780 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4290G>A (p.Leu1430=) |
single nucleotide variant |
Wilson disease [RCV003609886] |
Chr13:51934864 [GRCh38]
Chr13:52509000 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.202del (p.Thr68fs) |
deletion |
Wilson disease [RCV003610165] |
Chr13:51975018 [GRCh38]
Chr13:52549154 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4224C>T (p.Asp1408=) |
single nucleotide variant |
Wilson disease [RCV003609688] |
Chr13:51934930 [GRCh38]
Chr13:52509066 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1707+17C>G |
single nucleotide variant |
Wilson disease [RCV003609899] |
Chr13:51968427 [GRCh38]
Chr13:52542563 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-18C>T |
single nucleotide variant |
Wilson disease [RCV003609915] |
Chr13:51939211 [GRCh38]
Chr13:52513347 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.52-13C>A |
single nucleotide variant |
Wilson disease [RCV003609995] |
Chr13:51975181 [GRCh38]
Chr13:52549317 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3726G>A (p.Glu1242=) |
single nucleotide variant |
Wilson disease [RCV003831776] |
Chr13:51937653 [GRCh38]
Chr13:52511789 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3381G>C (p.Leu1127=) |
single nucleotide variant |
Wilson disease [RCV003610317] |
Chr13:51942417 [GRCh38]
Chr13:52516553 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1161G>A (p.Val387=) |
single nucleotide variant |
Wilson disease [RCV003609768] |
Chr13:51974059 [GRCh38]
Chr13:52548195 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2778A>G (p.Pro926=) |
single nucleotide variant |
Wilson disease [RCV003609927] |
Chr13:51949749 [GRCh38]
Chr13:52523885 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-12T>C |
single nucleotide variant |
Wilson disease [RCV003610071] |
Chr13:51941236 [GRCh38]
Chr13:52515372 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2976C>T (p.Pro992=) |
single nucleotide variant |
Wilson disease [RCV003609764] |
Chr13:51946368 [GRCh38]
Chr13:52520504 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.633G>A (p.Lys211=) |
single nucleotide variant |
Wilson disease [RCV003610186] |
Chr13:51974587 [GRCh38]
Chr13:52548723 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4392C>T (p.Tyr1464=) |
single nucleotide variant |
Wilson disease [RCV003609787] |
Chr13:51934762 [GRCh38]
Chr13:52508898 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3720T>C (p.Phe1240=) |
single nucleotide variant |
Wilson disease [RCV003609846] |
Chr13:51937659 [GRCh38]
Chr13:52511795 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1068C>T (p.Gly356=) |
single nucleotide variant |
Wilson disease [RCV003609876] |
Chr13:51974152 [GRCh38]
Chr13:52548288 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1605_1608dup (p.Ile537fs) |
duplication |
Wilson disease [RCV003608652] |
Chr13:51968542..51968543 [GRCh38]
Chr13:52542678..52542679 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2035dup (p.His679fs) |
duplication |
Wilson disease [RCV003608663] |
Chr13:51960233..51960234 [GRCh38]
Chr13:52534369..52534370 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3124dup (p.Val1042fs) |
duplication |
Wilson disease [RCV003609092] |
Chr13:51944227..51944228 [GRCh38]
Chr13:52518363..52518364 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2718T>G (p.Ala906=) |
single nucleotide variant |
Wilson disease [RCV003608675] |
Chr13:51950019 [GRCh38]
Chr13:52524155 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.852G>T (p.Gly284=) |
single nucleotide variant |
Wilson disease [RCV003609138] |
Chr13:51974368 [GRCh38]
Chr13:52548504 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3291G>T (p.Val1097=) |
single nucleotide variant |
Inborn genetic diseases [RCV004371771]|Wilson disease [RCV003608753] |
Chr13:51942507 [GRCh38]
Chr13:52516643 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-11C>T |
single nucleotide variant |
Wilson disease [RCV003608799] |
Chr13:51950172 [GRCh38]
Chr13:52524308 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3828C>G (p.Ala1276=) |
single nucleotide variant |
Wilson disease [RCV003877019] |
Chr13:51937551 [GRCh38]
Chr13:52511687 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4290G>C (p.Leu1430=) |
single nucleotide variant |
Wilson disease [RCV003608825] |
Chr13:51934864 [GRCh38]
Chr13:52509000 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-14A>C |
single nucleotide variant |
Wilson disease [RCV003877037] |
Chr13:51970763 [GRCh38]
Chr13:52544899 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1113A>G (p.Ala371=) |
single nucleotide variant |
Wilson disease [RCV003608907] |
Chr13:51974107 [GRCh38]
Chr13:52548243 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1416G>T (p.Pro472=) |
single nucleotide variant |
Wilson disease [RCV003608926] |
Chr13:51970619 [GRCh38]
Chr13:52544755 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.321G>T (p.Val107=) |
single nucleotide variant |
Wilson disease [RCV003608935] |
Chr13:51974899 [GRCh38]
Chr13:52549035 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2385C>G (p.Leu795=) |
single nucleotide variant |
Wilson disease [RCV003609122] |
Chr13:51957578 [GRCh38]
Chr13:52531714 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-11C>G |
single nucleotide variant |
Wilson disease [RCV003878650] |
Chr13:51950172 [GRCh38]
Chr13:52524308 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1543+9_1543+12dup |
duplication |
Wilson disease [RCV003608882] |
Chr13:51970479..51970480 [GRCh38]
Chr13:52544615..52544616 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.993C>G (p.Ala331=) |
single nucleotide variant |
Wilson disease [RCV003609033] |
Chr13:51974227 [GRCh38]
Chr13:52548363 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.702dup (p.Pro235fs) |
duplication |
Wilson disease [RCV003608742] |
Chr13:51974517..51974518 [GRCh38]
Chr13:52548653..52548654 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3244-18C>G |
single nucleotide variant |
Wilson disease [RCV003609500] |
Chr13:51942572 [GRCh38]
Chr13:52516708 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1173G>C (p.Ser391=) |
single nucleotide variant |
Wilson disease [RCV003609080] |
Chr13:51974047 [GRCh38]
Chr13:52548183 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2575+8G>C |
single nucleotide variant |
Wilson disease [RCV003608811] |
Chr13:51950264 [GRCh38]
Chr13:52524400 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-14A>G |
single nucleotide variant |
Wilson disease [RCV003608821] |
Chr13:51970763 [GRCh38]
Chr13:52544899 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4068A>G (p.Ser1356=) |
single nucleotide variant |
Wilson disease [RCV003608822] |
Chr13:51935649 [GRCh38]
Chr13:52509785 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2122-9G>A |
single nucleotide variant |
Wilson disease [RCV003608824] |
Chr13:51958553 [GRCh38]
Chr13:52532689 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.552C>T (p.Val184=) |
single nucleotide variant |
Wilson disease [RCV003608828] |
Chr13:51974668 [GRCh38]
Chr13:52548804 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1107C>A (p.Thr369=) |
single nucleotide variant |
Wilson disease [RCV003608830] |
Chr13:51974113 [GRCh38]
Chr13:52548249 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2838T>C (p.Asp946=) |
single nucleotide variant |
Wilson disease [RCV003609067] |
Chr13:51949689 [GRCh38]
Chr13:52523825 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3177G>C (p.Val1059=) |
single nucleotide variant |
Wilson disease [RCV003825598] |
Chr13:51944175 [GRCh38]
Chr13:52518311 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3729G>A (p.Val1243=) |
single nucleotide variant |
Wilson disease [RCV003608791] |
Chr13:51937650 [GRCh38]
Chr13:52511786 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2865+14C>T |
single nucleotide variant |
Wilson disease [RCV003608844] |
Chr13:51949648 [GRCh38]
Chr13:52523784 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3648G>A (p.Val1216=) |
single nucleotide variant |
Wilson disease [RCV003609492] |
Chr13:51939102 [GRCh38]
Chr13:52513238 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter) |
single nucleotide variant |
Wilson disease [RCV003608865] |
Chr13:51934799 [GRCh38]
Chr13:52508935 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.1017G>A (p.Arg339=) |
single nucleotide variant |
Wilson disease [RCV003608775] |
Chr13:51974203 [GRCh38]
Chr13:52548339 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3295_3296dup (p.Cys1100fs) |
duplication |
Wilson disease [RCV003608891] |
Chr13:51942501..51942502 [GRCh38]
Chr13:52516637..52516638 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3532A>C (p.Thr1178Pro) |
single nucleotide variant |
Wilson disease [RCV003609543] |
Chr13:51941105 [GRCh38]
Chr13:52515241 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.42C>T (p.Ala14=) |
single nucleotide variant |
Wilson disease [RCV003609546] |
Chr13:52011296 [GRCh38]
Chr13:52585432 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3105C>A (p.Gly1035=) |
single nucleotide variant |
Wilson disease [RCV003880642] |
Chr13:51944247 [GRCh38]
Chr13:52518383 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3556+15T>A |
single nucleotide variant |
Wilson disease [RCV003609581] |
Chr13:51941066 [GRCh38]
Chr13:52515202 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.246_284del (p.Asn82_Gln95delinsLys) |
deletion |
Wilson disease [RCV003609597] |
Chr13:51974936..51974974 [GRCh38]
Chr13:52549072..52549110 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3999G>C (p.Leu1333=) |
single nucleotide variant |
Wilson disease [RCV003608958] |
Chr13:51937298 [GRCh38]
Chr13:52511434 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.207C>T (p.Cys69=) |
single nucleotide variant |
Wilson disease [RCV003609001] |
Chr13:51975013 [GRCh38]
Chr13:52549149 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3492T>C (p.Asp1164=) |
single nucleotide variant |
Wilson disease [RCV003609003] |
Chr13:51941145 [GRCh38]
Chr13:52515281 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3815C>A (p.Ser1272Tyr) |
single nucleotide variant |
Wilson disease [RCV003609362] |
Chr13:51937564 [GRCh38]
Chr13:52511700 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2575+13G>A |
single nucleotide variant |
Wilson disease [RCV003609364] |
Chr13:51950259 [GRCh38]
Chr13:52524395 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2356-12G>A |
single nucleotide variant |
Wilson disease [RCV003609607] |
Chr13:51957619 [GRCh38]
Chr13:52531755 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1644C>T (p.Asp548=) |
single nucleotide variant |
Wilson disease [RCV003609612] |
Chr13:51968507 [GRCh38]
Chr13:52542643 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2447+12T>G |
single nucleotide variant |
Wilson disease [RCV003608993] |
Chr13:51957504 [GRCh38]
Chr13:52531640 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4161G>A (p.Gln1387=) |
single nucleotide variant |
Wilson disease [RCV003609024] |
Chr13:51934993 [GRCh38]
Chr13:52509129 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-19G>A |
single nucleotide variant |
Wilson disease [RCV003609619] |
Chr13:51950180 [GRCh38]
Chr13:52524316 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2731-18G>T |
single nucleotide variant |
Wilson disease [RCV003609631] |
Chr13:51949814 [GRCh38]
Chr13:52523950 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg) |
single nucleotide variant |
Wilson disease [RCV003504575] |
Chr13:51960149 [GRCh38]
Chr13:52534285 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1285+7A>G |
single nucleotide variant |
Wilson disease [RCV003609047] |
Chr13:51973928 [GRCh38]
Chr13:52548064 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3243+16C>A |
single nucleotide variant |
Wilson disease [RCV003609383] |
Chr13:51944093 [GRCh38]
Chr13:52518229 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1851T>C (p.Asp617=) |
single nucleotide variant |
Wilson disease [RCV003609386] |
Chr13:51964890 [GRCh38]
Chr13:52539026 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.42C>G (p.Ala14=) |
single nucleotide variant |
Wilson disease [RCV003608654] |
Chr13:52011296 [GRCh38]
Chr13:52585432 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+15C>G |
single nucleotide variant |
Wilson disease [RCV003609404] |
Chr13:51937261 [GRCh38]
Chr13:52511397 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2447+18A>G |
single nucleotide variant |
Wilson disease [RCV003875992] |
Chr13:51957498 [GRCh38]
Chr13:52531634 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4022-8T>C |
single nucleotide variant |
Wilson disease [RCV003608660] |
Chr13:51935703 [GRCh38]
Chr13:52509839 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3979C>T (p.Leu1327=) |
single nucleotide variant |
Wilson disease [RCV003609091] |
Chr13:51937318 [GRCh38]
Chr13:52511454 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1647G>T (p.Leu549=) |
single nucleotide variant |
Wilson disease [RCV003609416] |
Chr13:51968504 [GRCh38]
Chr13:52542640 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1285+9T>A |
single nucleotide variant |
Wilson disease [RCV003609665] |
Chr13:51973926 [GRCh38]
Chr13:52548062 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4011C>A (p.Pro1337=) |
single nucleotide variant |
Wilson disease [RCV003609124] |
Chr13:51937286 [GRCh38]
Chr13:52511422 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.130del (p.Tyr44fs) |
deletion |
Wilson disease [RCV003609132] |
Chr13:51975090 [GRCh38]
Chr13:52549226 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3660G>C (p.Thr1220=) |
single nucleotide variant |
Wilson disease [RCV003825490] |
Chr13:51939090 [GRCh38]
Chr13:52513226 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.156C>T (p.Gly52=) |
single nucleotide variant |
Wilson disease [RCV003880942] |
Chr13:51975064 [GRCh38]
Chr13:52549200 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1869+20A>C |
single nucleotide variant |
Wilson disease [RCV003881987] |
Chr13:51964852 [GRCh38]
Chr13:52538988 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3795G>A (p.Val1265=) |
single nucleotide variant |
Wilson disease [RCV003880515] |
Chr13:51937584 [GRCh38]
Chr13:52511720 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3915G>C (p.Leu1305=) |
single nucleotide variant |
Wilson disease [RCV003877323] |
Chr13:51937382 [GRCh38]
Chr13:52511518 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3262T>C (p.Leu1088=) |
single nucleotide variant |
Wilson disease [RCV003878123] |
Chr13:51942536 [GRCh38]
Chr13:52516672 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2865+19G>A |
single nucleotide variant |
Wilson disease [RCV003881988] |
Chr13:51949643 [GRCh38]
Chr13:52523779 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4060del (p.Met1354fs) |
deletion |
Wilson disease [RCV003610328] |
Chr13:51935657 [GRCh38]
Chr13:52509793 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3700-7G>T |
single nucleotide variant |
Wilson disease [RCV003610395] |
Chr13:51937686 [GRCh38]
Chr13:52511822 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-13_2576-12insGGTG |
insertion |
Wilson disease [RCV003610404] |
Chr13:51950173..51950174 [GRCh38]
Chr13:52524309..52524310 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1221A>T (p.Val407=) |
single nucleotide variant |
Wilson disease [RCV003610501] |
Chr13:51973999 [GRCh38]
Chr13:52548135 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2730+16T>C |
single nucleotide variant |
Wilson disease [RCV003610521] |
Chr13:51949991 [GRCh38]
Chr13:52524127 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1285+8G>T |
single nucleotide variant |
Wilson disease [RCV003610530] |
Chr13:51973927 [GRCh38]
Chr13:52548063 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1764G>A (p.Arg588=) |
single nucleotide variant |
Wilson disease [RCV003610531] |
Chr13:51964977 [GRCh38]
Chr13:52539113 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3693_3694insTGGT (p.Thr1232fs) |
insertion |
Wilson disease [RCV004807656] |
Chr13:51939056..51939057 [GRCh38]
Chr13:52513192..52513193 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3666C>G (p.Asp1222Glu) |
single nucleotide variant |
Wilson disease [RCV004807667] |
Chr13:51939084 [GRCh38]
Chr13:52513220 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3430T>G (p.Phe1144Val) |
single nucleotide variant |
Wilson disease [RCV004807733] |
Chr13:51941207 [GRCh38]
Chr13:52515343 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2808G>T (p.Leu936Phe) |
single nucleotide variant |
Wilson disease [RCV004807855] |
Chr13:51949719 [GRCh38]
Chr13:52523855 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2576-5T>G |
single nucleotide variant |
Wilson disease [RCV003610467] |
Chr13:51950166 [GRCh38]
Chr13:52524302 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2726C>T (p.Ser909Leu) |
single nucleotide variant |
Wilson disease [RCV004807864] |
Chr13:51950011 [GRCh38]
Chr13:52524147 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2465T>C (p.Met822Thr) |
single nucleotide variant |
Wilson disease [RCV004807933] |
Chr13:51950382 [GRCh38]
Chr13:52524518 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2847T>C (p.Val949=) |
single nucleotide variant |
Wilson disease [RCV003610638] |
Chr13:51949680 [GRCh38]
Chr13:52523816 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1708-17G>A |
single nucleotide variant |
Wilson disease [RCV003610795] |
Chr13:51965050 [GRCh38]
Chr13:52539186 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1869+19A>G |
single nucleotide variant |
Wilson disease [RCV003610729] |
Chr13:51964853 [GRCh38]
Chr13:52538989 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.672T>C (p.Ile224=) |
single nucleotide variant |
Wilson disease [RCV003610752] |
Chr13:51974548 [GRCh38]
Chr13:52548684 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3243+20G>A |
single nucleotide variant |
Wilson disease [RCV003610760] |
Chr13:51944089 [GRCh38]
Chr13:52518225 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2763T>G (p.Ser921Arg) |
single nucleotide variant |
Wilson disease [RCV003610662] |
Chr13:51949764 [GRCh38]
Chr13:52523900 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2730+12A>G |
single nucleotide variant |
Wilson disease [RCV003610763] |
Chr13:51949995 [GRCh38]
Chr13:52524131 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1722C>T (p.Thr574=) |
single nucleotide variant |
Wilson disease [RCV003610808] |
Chr13:51965019 [GRCh38]
Chr13:52539155 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.611T>C (p.Met204Thr) |
single nucleotide variant |
Wilson disease [RCV003610655] |
Chr13:51974609 [GRCh38]
Chr13:52548745 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.52-3dup |
duplication |
Wilson disease [RCV003610907] |
Chr13:51975170..51975171 [GRCh38]
Chr13:52549306..52549307 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1440A>G (p.Gln480=) |
single nucleotide variant |
Wilson disease [RCV003610893] |
Chr13:51970595 [GRCh38]
Chr13:52544731 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-21A>C |
single nucleotide variant |
not provided [RCV004812139] |
Chr13:51941245 [GRCh38]
Chr13:52515381 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4022-15T>C |
single nucleotide variant |
Wilson disease [RCV003839289] |
Chr13:51935710 [GRCh38]
Chr13:52509846 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2447+10G>A |
single nucleotide variant |
Wilson disease [RCV003610913] |
Chr13:51957506 [GRCh38]
Chr13:52531642 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.51+13C>G |
single nucleotide variant |
Wilson disease [RCV003610908] |
Chr13:52011274 [GRCh38]
Chr13:52585410 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3060+17G>T |
single nucleotide variant |
Wilson disease [RCV003851867] |
Chr13:51946267 [GRCh38]
Chr13:52520403 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3288A>C (p.Ala1096=) |
single nucleotide variant |
Wilson disease [RCV003610372] |
Chr13:51942510 [GRCh38]
Chr13:52516646 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-10C>A |
single nucleotide variant |
Wilson disease [RCV003610403] |
Chr13:51950171 [GRCh38]
Chr13:52524307 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.52-5T>G |
single nucleotide variant |
Wilson disease [RCV003610892] |
Chr13:51975173 [GRCh38]
Chr13:52549309 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1302C>T (p.Asn434=) |
single nucleotide variant |
Wilson disease [RCV003502065] |
Chr13:51970733 [GRCh38]
Chr13:52544869 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2356-12G>C |
single nucleotide variant |
Wilson disease [RCV003502098] |
Chr13:51957619 [GRCh38]
Chr13:52531755 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2355+10G>A |
single nucleotide variant |
Wilson disease [RCV003502306] |
Chr13:51958301 [GRCh38]
Chr13:52532437 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3361_3364del (p.Ser1121fs) |
deletion |
Wilson disease [RCV003610524] |
Chr13:51942434..51942437 [GRCh38]
Chr13:52516570..52516573 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.258C>A (p.Ile86=) |
single nucleotide variant |
Wilson disease [RCV003610529] |
Chr13:51974962 [GRCh38]
Chr13:52549098 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3126G>A (p.Val1042=) |
single nucleotide variant |
Wilson disease [RCV003610593] |
Chr13:51944226 [GRCh38]
Chr13:52518362 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2575+20G>A |
single nucleotide variant |
Wilson disease [RCV003610674] |
Chr13:51950252 [GRCh38]
Chr13:52524388 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1653T>C (p.Phe551=) |
single nucleotide variant |
Wilson disease [RCV003610718] |
Chr13:51968498 [GRCh38]
Chr13:52542634 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1612C>T (p.Gln538Ter) |
single nucleotide variant |
Wilson disease [RCV003610723] |
Chr13:51968539 [GRCh38]
Chr13:52542675 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.150C>T (p.Gly50=) |
single nucleotide variant |
Wilson disease [RCV003856098] |
Chr13:51975070 [GRCh38]
Chr13:52549206 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1047A>C (p.Pro349=) |
single nucleotide variant |
Wilson disease [RCV003835924] |
Chr13:51974173 [GRCh38]
Chr13:52548309 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-9T>C |
single nucleotide variant |
Wilson disease [RCV003610777] |
Chr13:51941233 [GRCh38]
Chr13:52515369 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2730+19A>G |
single nucleotide variant |
Wilson disease [RCV003610814] |
Chr13:51949988 [GRCh38]
Chr13:52524124 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3699+14A>C |
single nucleotide variant |
Wilson disease [RCV003610659] |
Chr13:51939037 [GRCh38]
Chr13:52513173 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2448-12C>T |
single nucleotide variant |
Wilson disease [RCV003502167] |
Chr13:51950411 [GRCh38]
Chr13:52524547 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3061-4G>T |
single nucleotide variant |
Wilson disease [RCV003610526] |
Chr13:51944295 [GRCh38]
Chr13:52518431 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.51+20G>A |
single nucleotide variant |
Wilson disease [RCV003502243] |
Chr13:52011267 [GRCh38]
Chr13:52585403 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2748G>A (p.Leu916=) |
single nucleotide variant |
Wilson disease [RCV003610725] |
Chr13:51949779 [GRCh38]
Chr13:52523915 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.783G>A (p.Leu261=) |
single nucleotide variant |
Wilson disease [RCV003610749] |
Chr13:51974437 [GRCh38]
Chr13:52548573 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2865+10A>G |
single nucleotide variant |
Wilson disease [RCV003610750] |
Chr13:51949652 [GRCh38]
Chr13:52523788 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3904-10T>C |
single nucleotide variant |
Wilson disease [RCV003839299] |
Chr13:51937403 [GRCh38]
Chr13:52511539 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2280_2301del (p.Val761fs) |
deletion |
Wilson disease [RCV003610846] |
Chr13:51958365..51958386 [GRCh38]
Chr13:52532501..52532522 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.2364C>T (p.Thr788=) |
single nucleotide variant |
Wilson disease [RCV003502328] |
Chr13:51957599 [GRCh38]
Chr13:52531735 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3222A>C (p.Ala1074=) |
single nucleotide variant |
Wilson disease [RCV003610890] |
Chr13:51944130 [GRCh38]
Chr13:52518266 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.52-13del |
deletion |
Wilson disease [RCV003839447] |
Chr13:51975181 [GRCh38]
Chr13:52549317 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3453T>G (p.Arg1151=) |
single nucleotide variant |
Wilson disease [RCV003502495] |
Chr13:51941184 [GRCh38]
Chr13:52515320 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2058C>T (p.His686=) |
single nucleotide variant |
Wilson disease [RCV003839817] |
Chr13:51960211 [GRCh38]
Chr13:52534347 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+10C>G |
single nucleotide variant |
Wilson disease [RCV003610366] |
Chr13:51935583 [GRCh38]
Chr13:52509719 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+20G>T |
single nucleotide variant |
Wilson disease [RCV003610786] |
Chr13:51935573 [GRCh38]
Chr13:52509709 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3207C>T (p.His1069=) |
single nucleotide variant |
Wilson disease [RCV003502350] |
Chr13:51944145 [GRCh38]
Chr13:52518281 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-16T>C |
single nucleotide variant |
Wilson disease [RCV003610928] |
Chr13:51970765 [GRCh38]
Chr13:52544901 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2595dup (p.Lys866Ter) |
duplication |
Wilson disease [RCV003610384] |
Chr13:51950141..51950142 [GRCh38]
Chr13:52524277..52524278 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2295C>T (p.Asp765=) |
single nucleotide variant |
Wilson disease [RCV003811359] |
Chr13:51958371 [GRCh38]
Chr13:52532507 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1551C>T (p.Leu517=) |
single nucleotide variant |
Wilson disease [RCV003610630] |
Chr13:51968600 [GRCh38]
Chr13:52542736 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1708-15C>T |
single nucleotide variant |
Wilson disease [RCV003610748] |
Chr13:51965048 [GRCh38]
Chr13:52539184 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1195_1205del (p.Ala399fs) |
deletion |
Wilson disease [RCV003610833] |
Chr13:51974015..51974025 [GRCh38]
Chr13:52548151..52548161 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2292_2312del (p.Asp765_Phe771del) |
deletion |
Wilson disease [RCV003610847] |
Chr13:51958354..51958374 [GRCh38]
Chr13:52532490..52532510 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3504T>C (p.Ala1168=) |
single nucleotide variant |
Wilson disease [RCV003502116] |
Chr13:51941133 [GRCh38]
Chr13:52515269 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-16A>G |
single nucleotide variant |
Wilson disease [RCV003502122] |
Chr13:51941240 [GRCh38]
Chr13:52515376 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1662A>G (p.Ala554=) |
single nucleotide variant |
Wilson disease [RCV003610342] |
Chr13:51968489 [GRCh38]
Chr13:52542625 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.960T>C (p.Pro320=) |
single nucleotide variant |
Wilson disease [RCV003610346] |
Chr13:51974260 [GRCh38]
Chr13:52548396 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3903+17C>G |
single nucleotide variant |
Wilson disease [RCV003502143] |
Chr13:51937459 [GRCh38]
Chr13:52511595 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2122-19C>A |
single nucleotide variant |
Wilson disease [RCV003502151] |
Chr13:51958563 [GRCh38]
Chr13:52532699 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1179T>A (p.Ser393=) |
single nucleotide variant |
Wilson disease [RCV003502470] |
Chr13:51974041 [GRCh38]
Chr13:52548177 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2447+20T>C |
single nucleotide variant |
Wilson disease [RCV003502474] |
Chr13:51957496 [GRCh38]
Chr13:52531632 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1617C>A (p.Pro539=) |
single nucleotide variant |
Wilson disease [RCV003610984] |
Chr13:51968534 [GRCh38]
Chr13:52542670 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-13T>A |
single nucleotide variant |
Wilson disease [RCV003610405] |
Chr13:51950174 [GRCh38]
Chr13:52524310 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.462C>A (p.Cys154Ter) |
single nucleotide variant |
Wilson disease [RCV003502178] |
Chr13:51974758 [GRCh38]
Chr13:52548894 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.987_988dup (p.Gly330fs) |
duplication |
Wilson disease [RCV003502483] |
Chr13:51974231..51974232 [GRCh38]
Chr13:52548367..52548368 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3243+8G>C |
single nucleotide variant |
Wilson disease [RCV003610962] |
Chr13:51944101 [GRCh38]
Chr13:52518237 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-19T>G |
single nucleotide variant |
Wilson disease [RCV003610459] |
Chr13:51970768 [GRCh38]
Chr13:52544904 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4152T>G (p.Tyr1384Ter) |
single nucleotide variant |
Wilson disease [RCV003502202] |
Chr13:51935002 [GRCh38]
Chr13:52509138 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2832T>C (p.Phe944=) |
single nucleotide variant |
Wilson disease [RCV003837969] |
Chr13:51949695 [GRCh38]
Chr13:52523831 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1608C>A (p.Val536=) |
single nucleotide variant |
Wilson disease [RCV003502254] |
Chr13:51968543 [GRCh38]
Chr13:52542679 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4373del (p.Gly1458fs) |
deletion |
Wilson disease [RCV003502261] |
Chr13:51934781 [GRCh38]
Chr13:52508917 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1065G>C (p.Gln355His) |
single nucleotide variant |
Wilson disease [RCV003610716] |
Chr13:51974155 [GRCh38]
Chr13:52548291 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1725C>T (p.Cys575=) |
single nucleotide variant |
Wilson disease [RCV003610756] |
Chr13:51965016 [GRCh38]
Chr13:52539152 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1947-15G>A |
single nucleotide variant |
Wilson disease [RCV003859611] |
Chr13:51960337 [GRCh38]
Chr13:52534473 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.789A>T (p.Ile263=) |
single nucleotide variant |
Wilson disease [RCV003866485] |
Chr13:51974431 [GRCh38]
Chr13:52548567 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2959C>T (p.Leu987=) |
single nucleotide variant |
Wilson disease [RCV003859631] |
Chr13:51946385 [GRCh38]
Chr13:52520521 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4125-16C>T |
single nucleotide variant |
Wilson disease [RCV003844016] |
Chr13:51935045 [GRCh38]
Chr13:52509181 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3412+20C>T |
single nucleotide variant |
Wilson disease [RCV003847152] |
Chr13:51942366 [GRCh38]
Chr13:52516502 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1110T>C (p.Cys370=) |
single nucleotide variant |
Wilson disease [RCV003845630] |
Chr13:51974110 [GRCh38]
Chr13:52548246 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3557-18C>G |
single nucleotide variant |
Wilson disease [RCV003848723] |
Chr13:51939211 [GRCh38]
Chr13:52513347 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3244-20CT[2] |
microsatellite |
Wilson disease [RCV003869262] |
Chr13:51942569..51942570 [GRCh38]
Chr13:52516705..52516706 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1870-19C>T |
single nucleotide variant |
Wilson disease [RCV003872534] |
Chr13:51961932 [GRCh38]
Chr13:52536068 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2970C>A (p.Ala990=) |
single nucleotide variant |
Wilson disease [RCV003870609] |
Chr13:51946374 [GRCh38]
Chr13:52520510 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.96A>G (p.Ala32=) |
single nucleotide variant |
Wilson disease [RCV003863654] |
Chr13:51975124 [GRCh38]
Chr13:52549260 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2121+7A>G |
single nucleotide variant |
Wilson disease [RCV003872053] |
Chr13:51960141 [GRCh38]
Chr13:52534277 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2447+16C>T |
single nucleotide variant |
Wilson disease [RCV003841496] |
Chr13:51957500 [GRCh38]
Chr13:52531636 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.2499G>C (p.Val833=) |
single nucleotide variant |
Wilson disease [RCV003862853] |
Chr13:51950348 [GRCh38]
Chr13:52524484 [GRCh37]
Chr13:13q14.3 |
likely benign |
| GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 |
copy number loss |
not specified [RCV003987008] |
Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2 |
pathogenic |
| NM_000053.4(ATP7B):c.4380T>C (p.Asp1460=) |
single nucleotide variant |
Wilson disease [RCV003845152] |
Chr13:51934774 [GRCh38]
Chr13:52508910 [GRCh37]
Chr13:13q14.3 |
likely benign |
| GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 |
copy number loss |
not specified [RCV003987012] |
Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2 |
pathogenic |
| GRCh37/hg19 13q14.3(chr13:52580525-52708844)x1 |
copy number loss |
not specified [RCV003987021] |
Chr13:52580525..52708844 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.60T>G (p.Ser20=) |
single nucleotide variant |
Wilson disease [RCV003818686] |
Chr13:51975160 [GRCh38]
Chr13:52549296 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-11C>A |
single nucleotide variant |
Wilson disease [RCV003870527] |
Chr13:51941235 [GRCh38]
Chr13:52515371 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3413-13del |
deletion |
Wilson disease [RCV003870528] |
Chr13:51941237 [GRCh38]
Chr13:52515373 [GRCh37]
Chr13:13q14.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.3413-14C>T |
single nucleotide variant |
Wilson disease [RCV003870529] |
Chr13:51941238 [GRCh38]
Chr13:52515374 [GRCh37]
Chr13:13q14.3 |
likely benign |
| GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 |
copy number gain |
not specified [RCV003987040] |
Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1 |
pathogenic |
| NM_000053.4(ATP7B):c.1869+1G>A |
single nucleotide variant |
Wilson disease [RCV003842962] |
Chr13:51964871 [GRCh38]
Chr13:52539007 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3699+14A>G |
single nucleotide variant |
Wilson disease [RCV003865499] |
Chr13:51939037 [GRCh38]
Chr13:52513173 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1544-11G>A |
single nucleotide variant |
Wilson disease [RCV003853390] |
Chr13:51968618 [GRCh38]
Chr13:52542754 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+7A>C |
single nucleotide variant |
Wilson disease [RCV003843258] |
Chr13:51937269 [GRCh38]
Chr13:52511405 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4254A>G (p.Pro1418=) |
single nucleotide variant |
Wilson disease [RCV003857276] |
Chr13:51934900 [GRCh38]
Chr13:52509036 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.564G>A (p.Gln188=) |
single nucleotide variant |
Wilson disease [RCV003824264] |
Chr13:51974656 [GRCh38]
Chr13:52548792 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.477C>T (p.Ser159=) |
single nucleotide variant |
Wilson disease [RCV003843603] |
Chr13:51974743 [GRCh38]
Chr13:52548879 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4167T>C (p.His1389=) |
single nucleotide variant |
Wilson disease [RCV003863380] |
Chr13:51934987 [GRCh38]
Chr13:52509123 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1707+3A>G |
single nucleotide variant |
Wilson disease [RCV004008137] |
Chr13:51968441 [GRCh38]
Chr13:52542577 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1852A>G (p.Ile618Val) |
single nucleotide variant |
Wilson disease [RCV004008139] |
Chr13:51964889 [GRCh38]
Chr13:52539025 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1304C>G (p.Pro435Arg) |
single nucleotide variant |
Wilson disease [RCV004009944] |
Chr13:51970731 [GRCh38]
Chr13:52544867 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4319G>T (p.Arg1440Leu) |
single nucleotide variant |
Wilson disease [RCV003991797] |
Chr13:51934835 [GRCh38]
Chr13:52508971 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1121T>G (p.Val374Gly) |
single nucleotide variant |
Wilson disease [RCV004009957] |
Chr13:51974099 [GRCh38]
Chr13:52548235 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1254A>C (p.Glu418Asp) |
single nucleotide variant |
Wilson disease [RCV004009962] |
Chr13:51973966 [GRCh38]
Chr13:52548102 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3035G>T (p.Gly1012Val) |
single nucleotide variant |
Wilson disease [RCV004010144] |
Chr13:51946309 [GRCh38]
Chr13:52520445 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1769A>T (p.Asn590Ile) |
single nucleotide variant |
Wilson disease [RCV004009950] |
Chr13:51964972 [GRCh38]
Chr13:52539108 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.265A>T (p.Met89Leu) |
single nucleotide variant |
Wilson disease [RCV004009959] |
Chr13:51974955 [GRCh38]
Chr13:52549091 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3278A>C (p.Asp1093Ala) |
single nucleotide variant |
Wilson disease [RCV004010165] |
Chr13:51942520 [GRCh38]
Chr13:52516656 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.99G>A (p.Met33Ile) |
single nucleotide variant |
Wilson disease [RCV004010173] |
Chr13:51975121 [GRCh38]
Chr13:52549257 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2930C>A (p.Thr977Lys) |
single nucleotide variant |
Wilson disease [RCV003990033] |
Chr13:51946414 [GRCh38]
Chr13:52520550 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2122-14T>C |
single nucleotide variant |
Wilson disease [RCV004010079] |
Chr13:51958558 [GRCh38]
Chr13:52532694 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.226A>T (p.Ile76Phe) |
single nucleotide variant |
Wilson disease [RCV004010156] |
Chr13:51974994 [GRCh38]
Chr13:52549130 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1400C>T (p.Pro467Leu) |
single nucleotide variant |
Wilson disease [RCV004010155] |
Chr13:51970635 [GRCh38]
Chr13:52544771 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1451C>T (p.Ala484Val) |
single nucleotide variant |
Wilson disease [RCV004010119] |
Chr13:51970584 [GRCh38]
Chr13:52544720 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.52011556C>T |
single nucleotide variant |
ATP7B-related disorder [RCV003931857] |
Chr13:52011556 [GRCh38]
Chr13:52585692 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2171A>G (p.His724Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004371950]|Wilson disease [RCV004014477] |
Chr13:51958495 [GRCh38]
Chr13:52532631 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.58T>G (p.Ser20Ala) |
single nucleotide variant |
Wilson disease [RCV004008028] |
Chr13:51975162 [GRCh38]
Chr13:52549298 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.254G>A (p.Gly85Asp) |
single nucleotide variant |
Wilson disease [RCV003990607] |
Chr13:51974966 [GRCh38]
Chr13:52549102 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity |
| NM_000053.4(ATP7B):c.1301A>T (p.Asn434Ile) |
single nucleotide variant |
Wilson disease [RCV004008096] |
Chr13:51970734 [GRCh38]
Chr13:52544870 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1409A>G (p.His470Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004516480] |
Chr13:51970626 [GRCh38]
Chr13:52544762 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2159A>G (p.Lys720Arg) |
single nucleotide variant |
Wilson disease [RCV004007930] |
Chr13:51958507 [GRCh38]
Chr13:52532643 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.333G>A (p.Gln111=) |
single nucleotide variant |
Wilson disease [RCV004008086] |
Chr13:51974887 [GRCh38]
Chr13:52549023 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2448-13G>T |
single nucleotide variant |
Wilson disease [RCV004008126] |
Chr13:51950412 [GRCh38]
Chr13:52524548 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1799C>A (p.Ala600Asp) |
single nucleotide variant |
Wilson disease [RCV004008212] |
Chr13:51964942 [GRCh38]
Chr13:52539078 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.164C>T (p.Ser55Phe) |
single nucleotide variant |
Wilson disease [RCV004008244] |
Chr13:51975056 [GRCh38]
Chr13:52549192 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3700-3T>C |
single nucleotide variant |
Wilson disease [RCV004008037] |
Chr13:51937682 [GRCh38]
Chr13:52511818 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004371982]|Wilson disease [RCV004016731] |
Chr13:51974055 [GRCh38]
Chr13:52548191 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3308G>A (p.Gly1103Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004371999]|Wilson disease [RCV004017114] |
Chr13:51942490 [GRCh38]
Chr13:52516626 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2753A>G (p.Asp918Gly) |
single nucleotide variant |
not specified [RCV004527148] |
Chr13:51949774 [GRCh38]
Chr13:52523910 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2765_2773del (p.Gly922_Phe924del) |
deletion |
Wilson disease [RCV004010232] |
Chr13:51949754..51949762 [GRCh38]
Chr13:52523890..52523898 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.550G>T (p.Val184Phe) |
single nucleotide variant |
Wilson disease [RCV004010140] |
Chr13:51974670 [GRCh38]
Chr13:52548806 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1969A>G (p.Ser657Gly) |
single nucleotide variant |
Wilson disease [RCV004010162] |
Chr13:51960300 [GRCh38]
Chr13:52534436 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1583C>G (p.Ala528Gly) |
single nucleotide variant |
Wilson disease [RCV004009954] |
Chr13:51968568 [GRCh38]
Chr13:52542704 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4103T>C (p.Leu1368Pro) |
single nucleotide variant |
Wilson disease [RCV003991656] |
Chr13:51935614 [GRCh38]
Chr13:52509750 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.52A>G (p.Ile18Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004418804] |
Chr13:51975168 [GRCh38]
Chr13:52549304 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3846G>C (p.Val1282=) |
single nucleotide variant |
ATP7B-related disorder [RCV003967252] |
Chr13:51937533 [GRCh38]
Chr13:52511669 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3824T>C (p.Leu1275Ser) |
single nucleotide variant |
ATP7B-related disorder [RCV003979194] |
Chr13:51937555 [GRCh38]
Chr13:52511691 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4003G>A (p.Gly1335Arg) |
single nucleotide variant |
ATP7B-related disorder [RCV003907341] |
Chr13:51937294 [GRCh38]
Chr13:52511430 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.-81A>G |
single nucleotide variant |
ATP7B-related disorder [RCV003894625] |
Chr13:52011418 [GRCh38]
Chr13:52585554 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3215G>T (p.Gly1072Val) |
single nucleotide variant |
not specified [RCV004526433] |
Chr13:51944137 [GRCh38]
Chr13:52518273 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2846T>G (p.Val949Gly) |
single nucleotide variant |
Wilson disease [RCV004006180]|not provided [RCV003886907] |
Chr13:51949681 [GRCh38]
Chr13:52523817 [GRCh37]
Chr13:13q14.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 |
copy number loss |
not provided [RCV003885457] |
Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2 |
pathogenic |
| NM_000053.4(ATP7B):c.875T>C (p.Leu292Ser) |
single nucleotide variant |
Wilson disease [RCV004012739] |
Chr13:51974345 [GRCh38]
Chr13:52548481 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2191G>T (p.Val731Leu) |
single nucleotide variant |
Wilson disease [RCV004008100] |
Chr13:51958475 [GRCh38]
Chr13:52532611 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1193C>G (p.Thr398Ser) |
single nucleotide variant |
Wilson disease [RCV004012755] |
Chr13:51974027 [GRCh38]
Chr13:52548163 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1249A>G (p.Ile417Val) |
single nucleotide variant |
Wilson disease [RCV004012758] |
Chr13:51973971 [GRCh38]
Chr13:52548107 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.710C>A (p.Ser237Tyr) |
single nucleotide variant |
Wilson disease [RCV004012425] |
Chr13:51974510 [GRCh38]
Chr13:52548646 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3332G>T (p.Gly1111Val) |
single nucleotide variant |
Wilson disease [RCV004012843] |
Chr13:51942466 [GRCh38]
Chr13:52516602 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1099G>A (p.Gly367Ser) |
single nucleotide variant |
Wilson disease [RCV004008247] |
Chr13:51974121 [GRCh38]
Chr13:52548257 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4337A>G (p.Asp1446Gly) |
single nucleotide variant |
Wilson disease [RCV004012441] |
Chr13:51934817 [GRCh38]
Chr13:52508953 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter) |
single nucleotide variant |
Wilson disease [RCV004011346] |
Chr13:51934845 [GRCh38]
Chr13:52508981 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3226A>G (p.Thr1076Ala) |
single nucleotide variant |
Wilson disease [RCV004011962] |
Chr13:51944126 [GRCh38]
Chr13:52518262 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4193C>T (p.Ser1398Phe) |
single nucleotide variant |
Wilson disease [RCV004012473] |
Chr13:51934961 [GRCh38]
Chr13:52509097 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.487G>A (p.Gly163Ser) |
single nucleotide variant |
Wilson disease [RCV004012483] |
Chr13:51974733 [GRCh38]
Chr13:52548869 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1564G>A (p.Ala522Thr) |
single nucleotide variant |
Wilson disease [RCV004012764] |
Chr13:51968587 [GRCh38]
Chr13:52542723 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.598C>A (p.His200Asn) |
single nucleotide variant |
Wilson disease [RCV004009952] |
Chr13:51974622 [GRCh38]
Chr13:52548758 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.391G>A (p.Ala131Thr) |
single nucleotide variant |
Wilson disease [RCV004011870] |
Chr13:51974829 [GRCh38]
Chr13:52548965 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.-7C>G |
single nucleotide variant |
Wilson disease [RCV004012592] |
Chr13:52011344 [GRCh38]
Chr13:52585480 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2621C>G (p.Ala874Gly) |
single nucleotide variant |
Wilson disease [RCV003990492] |
Chr13:51950116 [GRCh38]
Chr13:52524252 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1828C>G (p.Pro610Ala) |
single nucleotide variant |
Wilson disease [RCV004011803] |
Chr13:51964913 [GRCh38]
Chr13:52539049 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1335G>A (p.Met445Ile) |
single nucleotide variant |
Wilson disease [RCV004011853] |
Chr13:51970700 [GRCh38]
Chr13:52544836 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2827G>C (p.Gly943Arg) |
single nucleotide variant |
Wilson disease [RCV004012204] |
Chr13:51949700 [GRCh38]
Chr13:52523836 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1472T>C (p.Phe491Ser) |
single nucleotide variant |
Wilson disease [RCV004012630] |
Chr13:51970563 [GRCh38]
Chr13:52544699 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3728T>C (p.Val1243Ala) |
single nucleotide variant |
Wilson disease [RCV004012271] |
Chr13:51937651 [GRCh38]
Chr13:52511787 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4240C>T (p.Pro1414Ser) |
single nucleotide variant |
Wilson disease [RCV004012274] |
Chr13:51934914 [GRCh38]
Chr13:52509050 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.547G>A (p.Ala183Thr) |
single nucleotide variant |
Wilson disease [RCV004012283] |
Chr13:51974673 [GRCh38]
Chr13:52548809 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.62del (p.Lys21fs) |
deletion |
Wilson disease [RCV004012648] |
Chr13:51975158 [GRCh38]
Chr13:52549294 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2707G>A (p.Val903Met) |
single nucleotide variant |
Wilson disease [RCV004011989] |
Chr13:51950030 [GRCh38]
Chr13:52524166 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2866-11C>T |
single nucleotide variant |
Wilson disease [RCV004012006] |
Chr13:51946489 [GRCh38]
Chr13:52520625 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.874T>G (p.Leu292Val) |
single nucleotide variant |
Wilson disease [RCV004012616] |
Chr13:51974346 [GRCh38]
Chr13:52548482 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3377_3378del (p.His1126fs) |
deletion |
Wilson disease [RCV004012692] |
Chr13:51942420..51942421 [GRCh38]
Chr13:52516556..52516557 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1 |
copy number loss |
not provided [RCV004442840] |
Chr13:50181731..54350061 [GRCh37]
Chr13:13q14.2-14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4243A>G (p.Arg1415Gly) |
single nucleotide variant |
Wilson disease [RCV004012377] |
Chr13:51934911 [GRCh38]
Chr13:52509047 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.11:g.52011554T>C |
single nucleotide variant |
ATP7B-related disorder [RCV003969586] |
Chr13:52011554 [GRCh38]
Chr13:52585690 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4217T>C (p.Met1406Thr) |
single nucleotide variant |
Wilson disease [RCV004007928] |
Chr13:51934937 [GRCh38]
Chr13:52509073 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3413-12T>A |
single nucleotide variant |
Wilson disease [RCV004007944] |
Chr13:51941236 [GRCh38]
Chr13:52515372 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2031G>T (p.Glu677Asp) |
single nucleotide variant |
Wilson disease [RCV004007949] |
Chr13:51960238 [GRCh38]
Chr13:52534374 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4222G>A (p.Asp1408Asn) |
single nucleotide variant |
Wilson disease [RCV004013901] |
Chr13:51934932 [GRCh38]
Chr13:52509068 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.644C>A (p.Ala215Asp) |
single nucleotide variant |
Wilson disease [RCV004016367] |
Chr13:51974576 [GRCh38]
Chr13:52548712 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1982G>A (p.Gly661Asp) |
single nucleotide variant |
Wilson disease [RCV004014422] |
Chr13:51960287 [GRCh38]
Chr13:52534423 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.421C>T (p.Gln141Ter) |
single nucleotide variant |
Wilson disease [RCV004018128] |
Chr13:51974799 [GRCh38]
Chr13:52548935 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4025T>A (p.Val1342Asp) |
single nucleotide variant |
Wilson disease [RCV004016216] |
Chr13:51935692 [GRCh38]
Chr13:52509828 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1162C>G (p.Gln388Glu) |
single nucleotide variant |
Wilson disease [RCV004016242] |
Chr13:51974058 [GRCh38]
Chr13:52548194 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3699+2T>C |
single nucleotide variant |
Wilson disease [RCV004013946] |
Chr13:51939049 [GRCh38]
Chr13:52513185 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3815C>G (p.Ser1272Cys) |
single nucleotide variant |
Wilson disease [RCV004013978] |
Chr13:51937564 [GRCh38]
Chr13:52511700 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3054G>T (p.Ala1018=) |
single nucleotide variant |
Wilson disease [RCV004014734] |
Chr13:51946290 [GRCh38]
Chr13:52520426 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3833C>G (p.Ala1278Gly) |
single nucleotide variant |
ATP7B-related disorder [RCV004731586]|Wilson disease [RCV004014951] |
Chr13:51937546 [GRCh38]
Chr13:52511682 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.635G>A (p.Ser212Asn) |
single nucleotide variant |
Wilson disease [RCV004016322] |
Chr13:51974585 [GRCh38]
Chr13:52548721 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.546G>A (p.Glu182=) |
single nucleotide variant |
Wilson disease [RCV004013245] |
Chr13:51974674 [GRCh38]
Chr13:52548810 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.307G>A (p.Val103Met) |
single nucleotide variant |
Wilson disease [RCV004013989] |
Chr13:51974913 [GRCh38]
Chr13:52549049 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4055C>T (p.Pro1352Leu) |
single nucleotide variant |
Wilson disease [RCV004014011] |
Chr13:51935662 [GRCh38]
Chr13:52509798 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3941C>T (p.Ser1314Phe) |
single nucleotide variant |
Wilson disease [RCV004014018] |
Chr13:51937356 [GRCh38]
Chr13:52511492 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1947-6T>C |
single nucleotide variant |
Wilson disease [RCV004016502] |
Chr13:51960328 [GRCh38]
Chr13:52534464 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3258G>A (p.Glu1086=) |
single nucleotide variant |
Wilson disease [RCV004016512] |
Chr13:51942540 [GRCh38]
Chr13:52516676 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1270G>C (p.Ala424Pro) |
single nucleotide variant |
Wilson disease [RCV004014756] |
Chr13:51973950 [GRCh38]
Chr13:52548086 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1139T>C (p.Met380Thr) |
single nucleotide variant |
Wilson disease [RCV004013465] |
Chr13:51974081 [GRCh38]
Chr13:52548217 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2464dup (p.Met822fs) |
duplication |
Wilson disease [RCV004018100] |
Chr13:51950382..51950383 [GRCh38]
Chr13:52524518..52524519 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3649del (p.Val1217fs) |
deletion |
Wilson disease [RCV004018124] |
Chr13:51939101 [GRCh38]
Chr13:52513237 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.903T>A (p.Tyr301Ter) |
single nucleotide variant |
Wilson disease [RCV004018127] |
Chr13:51974317 [GRCh38]
Chr13:52548453 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3533C>T (p.Thr1178Ile) |
single nucleotide variant |
Wilson disease [RCV004016530] |
Chr13:51941104 [GRCh38]
Chr13:52515240 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3977T>G (p.Val1326Gly) |
single nucleotide variant |
Wilson disease [RCV004015009] |
Chr13:51937320 [GRCh38]
Chr13:52511456 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1415C>A (p.Pro472Gln) |
single nucleotide variant |
Wilson disease [RCV004016419] |
Chr13:51970620 [GRCh38]
Chr13:52544756 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1812C>T (p.Ala604=) |
single nucleotide variant |
Wilson disease [RCV004013558] |
Chr13:51964929 [GRCh38]
Chr13:52539065 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.69T>G (p.Ser23=) |
single nucleotide variant |
Wilson disease [RCV004013560] |
Chr13:51975151 [GRCh38]
Chr13:52549287 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3521T>A (p.Met1174Lys) |
single nucleotide variant |
Wilson disease [RCV004014116] |
Chr13:51941116 [GRCh38]
Chr13:52515252 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.19C>T (p.Gln7Ter) |
single nucleotide variant |
Wilson disease [RCV004015019] |
Chr13:52011319 [GRCh38]
Chr13:52585455 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.800A>G (p.His267Arg) |
single nucleotide variant |
Wilson disease [RCV004013433] |
Chr13:51974420 [GRCh38]
Chr13:52548556 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2160del (p.Lys720fs) |
deletion |
Wilson disease [RCV004016558] |
Chr13:51958506 [GRCh38]
Chr13:52532642 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3613G>A (p.Ala1205Thr) |
single nucleotide variant |
Wilson disease [RCV004013685] |
Chr13:51939137 [GRCh38]
Chr13:52513273 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1678G>A (p.Ala560Thr) |
single nucleotide variant |
Wilson disease [RCV004015213]|not provided [RCV004723569] |
Chr13:51968473 [GRCh38]
Chr13:52542609 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4099G>T (p.Val1367Leu) |
single nucleotide variant |
Wilson disease [RCV004016688] |
Chr13:51935618 [GRCh38]
Chr13:52509754 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4016C>T (p.Ala1339Val) |
single nucleotide variant |
Wilson disease [RCV004016724]|not provided [RCV004810667] |
Chr13:51937281 [GRCh38]
Chr13:52511417 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1911C>A (p.Asn637Lys) |
single nucleotide variant |
Wilson disease [RCV004015703] |
Chr13:51961872 [GRCh38]
Chr13:52536008 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1870-3A>C |
single nucleotide variant |
Wilson disease [RCV004015762] |
Chr13:51961916 [GRCh38]
Chr13:52536052 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1441T>G (p.Ser481Ala) |
single nucleotide variant |
Wilson disease [RCV004015766] |
Chr13:51970594 [GRCh38]
Chr13:52544730 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.897A>G (p.Val299=) |
single nucleotide variant |
Wilson disease [RCV004016659] |
Chr13:51974323 [GRCh38]
Chr13:52548459 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3959G>A (p.Arg1320Lys) |
single nucleotide variant |
Wilson disease [RCV004016665] |
Chr13:51937338 [GRCh38]
Chr13:52511474 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3122G>T (p.Arg1041Leu) |
single nucleotide variant |
Wilson disease [RCV004016602] |
Chr13:51944230 [GRCh38]
Chr13:52518366 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3961A>T (p.Ile1321Leu) |
single nucleotide variant |
Wilson disease [RCV004013801] |
Chr13:51937336 [GRCh38]
Chr13:52511472 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3258G>C (p.Glu1086Asp) |
single nucleotide variant |
Wilson disease [RCV004016806] |
Chr13:51942540 [GRCh38]
Chr13:52516676 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2532A>G (p.Lys844=) |
single nucleotide variant |
Wilson disease [RCV004014221] |
Chr13:51950315 [GRCh38]
Chr13:52524451 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.-2C>T |
single nucleotide variant |
Wilson disease [RCV004015124] |
Chr13:52011339 [GRCh38]
Chr13:52585475 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1001G>A (p.Ser334Asn) |
single nucleotide variant |
Wilson disease [RCV004015717] |
Chr13:51974219 [GRCh38]
Chr13:52548355 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3110C>T (p.Pro1037Leu) |
single nucleotide variant |
Wilson disease [RCV004015234] |
Chr13:51944242 [GRCh38]
Chr13:52518378 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1888T>A (p.Ser630Thr) |
single nucleotide variant |
Wilson disease [RCV004016632] |
Chr13:51961895 [GRCh38]
Chr13:52536031 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2553G>C (p.Met851Ile) |
single nucleotide variant |
Wilson disease [RCV004013478] |
Chr13:51950294 [GRCh38]
Chr13:52524430 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2273G>C (p.Arg758Thr) |
single nucleotide variant |
Wilson disease [RCV004015822] |
Chr13:51958393 [GRCh38]
Chr13:52532529 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1617C>G (p.Pro539=) |
single nucleotide variant |
Wilson disease [RCV004013680] |
Chr13:51968534 [GRCh38]
Chr13:52542670 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.832A>G (p.Asn278Asp) |
single nucleotide variant |
Wilson disease [RCV004016823] |
Chr13:51974388 [GRCh38]
Chr13:52548524 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1870-14T>C |
single nucleotide variant |
Wilson disease [RCV004016996] |
Chr13:51961927 [GRCh38]
Chr13:52536063 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.454A>G (p.Met152Val) |
single nucleotide variant |
Wilson disease [RCV004014036] |
Chr13:51974766 [GRCh38]
Chr13:52548902 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2869C>T (p.Pro957Ser) |
single nucleotide variant |
Wilson disease [RCV004017123] |
Chr13:51946475 [GRCh38]
Chr13:52520611 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2637A>C (p.Ala879=) |
single nucleotide variant |
Wilson disease [RCV004017125] |
Chr13:51950100 [GRCh38]
Chr13:52524236 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2213G>A (p.Ser738Asn) |
single nucleotide variant |
Wilson disease [RCV004017134] |
Chr13:51958453 [GRCh38]
Chr13:52532589 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3670C>G (p.Arg1224Gly) |
single nucleotide variant |
Wilson disease [RCV004017105] |
Chr13:51939080 [GRCh38]
Chr13:52513216 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4181C>G (p.Pro1394Arg) |
single nucleotide variant |
Wilson disease [RCV004017094] |
Chr13:51934973 [GRCh38]
Chr13:52509109 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2696T>C (p.Ile899Thr) |
single nucleotide variant |
Wilson disease [RCV004014371] |
Chr13:51950041 [GRCh38]
Chr13:52524177 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3842_3847dup (p.Val1282_Ala1283insGlyVal) |
duplication |
Wilson disease [RCV004013974] |
Chr13:51937531..51937532 [GRCh38]
Chr13:52511667..52511668 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4378G>T (p.Asp1460Tyr) |
single nucleotide variant |
Wilson disease [RCV004017084] |
Chr13:51934776 [GRCh38]
Chr13:52508912 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3050T>C (p.Met1017Thr) |
single nucleotide variant |
Wilson disease [RCV004017117] |
Chr13:51946294 [GRCh38]
Chr13:52520430 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2907G>C (p.Arg969=) |
single nucleotide variant |
Wilson disease [RCV004017122] |
Chr13:51946437 [GRCh38]
Chr13:52520573 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2617A>G (p.Ile873Val) |
single nucleotide variant |
Wilson disease [RCV004017127] |
Chr13:51950120 [GRCh38]
Chr13:52524256 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2302C>G (p.Pro768Ala) |
single nucleotide variant |
Wilson disease [RCV004017132] |
Chr13:51958364 [GRCh38]
Chr13:52532500 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2200G>A (p.Val734Ile) |
single nucleotide variant |
Wilson disease [RCV004017135] |
Chr13:51958466 [GRCh38]
Chr13:52532602 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3313A>G (p.Lys1105Glu) |
single nucleotide variant |
Wilson disease [RCV004017113] |
Chr13:51942485 [GRCh38]
Chr13:52516621 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2588C>G (p.Pro863Arg) |
single nucleotide variant |
Wilson disease [RCV004014157]|not provided [RCV004775547] |
Chr13:51950149 [GRCh38]
Chr13:52524285 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3427A>T (p.Thr1143Ser) |
single nucleotide variant |
Wilson disease [RCV004015293] |
Chr13:51941210 [GRCh38]
Chr13:52515346 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.775C>T (p.Leu259Phe) |
single nucleotide variant |
Wilson disease [RCV004016009] |
Chr13:51974445 [GRCh38]
Chr13:52548581 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.893A>C (p.Gln298Pro) |
single nucleotide variant |
Wilson disease [RCV004016040] |
Chr13:51974327 [GRCh38]
Chr13:52548463 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1486G>A (p.Gly496Ser) |
single nucleotide variant |
Wilson disease [RCV004016920] |
Chr13:51970549 [GRCh38]
Chr13:52544685 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3391G>A (p.Gly1131Ser) |
single nucleotide variant |
Wilson disease [RCV004014015] |
Chr13:51942407 [GRCh38]
Chr13:52516543 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.553A>G (p.Ile185Val) |
single nucleotide variant |
Wilson disease [RCV004014068] |
Chr13:51974667 [GRCh38]
Chr13:52548803 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3569G>C (p.Gly1190Ala) |
single nucleotide variant |
Wilson disease [RCV004017107] |
Chr13:51939181 [GRCh38]
Chr13:52513317 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3670C>T (p.Arg1224Trp) |
single nucleotide variant |
Wilson disease [RCV004017104] |
Chr13:51939080 [GRCh38]
Chr13:52513216 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3696C>A (p.Thr1232=) |
single nucleotide variant |
Wilson disease [RCV004017103] |
Chr13:51939054 [GRCh38]
Chr13:52513190 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3838A>G (p.Met1280Val) |
single nucleotide variant |
Wilson disease [RCV004017102] |
Chr13:51937541 [GRCh38]
Chr13:52511677 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2964G>A (p.Gly988=) |
single nucleotide variant |
Wilson disease [RCV004014247] |
Chr13:51946380 [GRCh38]
Chr13:52520516 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.410C>T (p.Ser137Phe) |
single nucleotide variant |
Wilson disease [RCV004016067] |
Chr13:51974810 [GRCh38]
Chr13:52548946 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2912C>T (p.Ala971Val) |
single nucleotide variant |
Wilson disease [RCV004016083] |
Chr13:51946432 [GRCh38]
Chr13:52520568 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2719C>A (p.Gln907Lys) |
single nucleotide variant |
Wilson disease [RCV004014150] |
Chr13:51950018 [GRCh38]
Chr13:52524154 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.884A>G (p.Lys295Arg) |
single nucleotide variant |
Wilson disease [RCV004014396] |
Chr13:51974336 [GRCh38]
Chr13:52548472 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2162C>A (p.Ser721Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004968583]|Wilson disease [RCV004013686] |
Chr13:51958504 [GRCh38]
Chr13:52532640 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.278T>G (p.Leu93Arg) |
single nucleotide variant |
Wilson disease [RCV004014557] |
Chr13:51974942 [GRCh38]
Chr13:52549078 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3817C>T (p.Pro1273Ser) |
single nucleotide variant |
Wilson disease [RCV004015365] |
Chr13:51937562 [GRCh38]
Chr13:52511698 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.658G>A (p.Gly220Arg) |
single nucleotide variant |
Wilson disease [RCV004015686] |
Chr13:51974562 [GRCh38]
Chr13:52548698 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1286-15G>A |
single nucleotide variant |
Wilson disease [RCV004015784] |
Chr13:51970764 [GRCh38]
Chr13:52544900 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1919A>G (p.His640Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004968584]|Wilson disease [RCV004015832]|not specified [RCV004701904] |
Chr13:51961864 [GRCh38]
Chr13:52536000 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1411G>A (p.Ala471Thr) |
single nucleotide variant |
Wilson disease [RCV004014590] |
Chr13:51970624 [GRCh38]
Chr13:52544760 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1574C>T (p.Ala525Val) |
single nucleotide variant |
Wilson disease [RCV004014597] |
Chr13:51968577 [GRCh38]
Chr13:52542713 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4339G>A (p.Asp1447Asn) |
single nucleotide variant |
Wilson disease [RCV004017086] |
Chr13:51934815 [GRCh38]
Chr13:52508951 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4300A>C (p.Thr1434Pro) |
single nucleotide variant |
Wilson disease [RCV004017088] |
Chr13:51934854 [GRCh38]
Chr13:52508990 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4241C>A (p.Pro1414His) |
single nucleotide variant |
Wilson disease [RCV004017089] |
Chr13:51934913 [GRCh38]
Chr13:52509049 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4219G>C (p.Asp1407His) |
single nucleotide variant |
Wilson disease [RCV004017090] |
Chr13:51934935 [GRCh38]
Chr13:52509071 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4208A>G (p.His1403Arg) |
single nucleotide variant |
Wilson disease [RCV004017091] |
Chr13:51934946 [GRCh38]
Chr13:52509082 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3070G>C (p.Val1024Leu) |
single nucleotide variant |
Wilson disease [RCV004017116]|not provided [RCV004721801] |
Chr13:51944282 [GRCh38]
Chr13:52518418 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3038A>G (p.Lys1013Arg) |
single nucleotide variant |
Wilson disease [RCV004017118] |
Chr13:51946306 [GRCh38]
Chr13:52520442 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2968G>T (p.Ala990Ser) |
single nucleotide variant |
Wilson disease [RCV004017121] |
Chr13:51946376 [GRCh38]
Chr13:52520512 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2543G>T (p.Gly848Val) |
single nucleotide variant |
Wilson disease [RCV004017128] |
Chr13:51950304 [GRCh38]
Chr13:52524440 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2398G>A (p.Ala800Thr) |
single nucleotide variant |
Wilson disease [RCV004017129] |
Chr13:51957565 [GRCh38]
Chr13:52531701 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2353A>C (p.Lys785Gln) |
single nucleotide variant |
Wilson disease [RCV004017131] |
Chr13:51958313 [GRCh38]
Chr13:52532449 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.788T>C (p.Ile263Thr) |
single nucleotide variant |
Wilson disease [RCV004012946] |
Chr13:51974432 [GRCh38]
Chr13:52548568 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3122G>A (p.Arg1041Gln) |
single nucleotide variant |
Wilson disease [RCV004015824] |
Chr13:51944230 [GRCh38]
Chr13:52518366 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3008C>G (p.Ala1003Gly) |
single nucleotide variant |
Wilson disease [RCV004015826] |
Chr13:51946336 [GRCh38]
Chr13:52520472 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1420A>C (p.Ile474Leu) |
single nucleotide variant |
Wilson disease [RCV004014566] |
Chr13:51970615 [GRCh38]
Chr13:52544751 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2136G>T (p.Trp712Cys) |
single nucleotide variant |
Wilson disease [RCV004013020] |
Chr13:51958530 [GRCh38]
Chr13:52532666 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4209C>A (p.His1403Gln) |
single nucleotide variant |
Wilson disease [RCV004014659] |
Chr13:51934945 [GRCh38]
Chr13:52509081 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3335T>A (p.Ile1112Asn) |
single nucleotide variant |
Wilson disease [RCV004017112] |
Chr13:51942463 [GRCh38]
Chr13:52516599 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3457T>G (p.Trp1153Gly) |
single nucleotide variant |
Wilson disease [RCV004017109] |
Chr13:51941180 [GRCh38]
Chr13:52515316 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4036A>T (p.Ile1346Phe) |
single nucleotide variant |
Wilson disease [RCV004017097] |
Chr13:51935681 [GRCh38]
Chr13:52509817 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1507G>A (p.Val503Met) |
single nucleotide variant |
Wilson disease [RCV004014483] |
Chr13:51970528 [GRCh38]
Chr13:52544664 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1387A>G (p.Thr463Ala) |
single nucleotide variant |
Wilson disease [RCV004015936] |
Chr13:51970648 [GRCh38]
Chr13:52544784 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.771C>G (p.Val257=) |
single nucleotide variant |
Wilson disease [RCV004013073] |
Chr13:51974449 [GRCh38]
Chr13:52548585 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3140dup (p.Asp1047fs) |
duplication |
Wilson disease [RCV004013137] |
Chr13:51944211..51944212 [GRCh38]
Chr13:52518347..52518348 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2698G>C (p.Val900Leu) |
single nucleotide variant |
Wilson disease [RCV004014633] |
Chr13:51950039 [GRCh38]
Chr13:52524175 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.819G>A (p.Leu273=) |
single nucleotide variant |
Wilson disease [RCV004013069] |
Chr13:51974401 [GRCh38]
Chr13:52548537 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2718T>C (p.Ala906=) |
single nucleotide variant |
Wilson disease [RCV004014712] |
Chr13:51950019 [GRCh38]
Chr13:52524155 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2059A>G (p.Asn687Asp) |
single nucleotide variant |
Wilson disease [RCV004014706] |
Chr13:51960210 [GRCh38]
Chr13:52534346 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2567T>G (p.Leu856Arg) |
single nucleotide variant |
Wilson disease [RCV004016273] |
Chr13:51950280 [GRCh38]
Chr13:52524416 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3661G>C (p.Gly1221Arg) |
single nucleotide variant |
Wilson disease [RCV004013209] |
Chr13:51939089 [GRCh38]
Chr13:52513225 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2279_2280del (p.Pro760fs) |
deletion |
Wilson disease [RCV004014778] |
Chr13:51958386..51958387 [GRCh38]
Chr13:52532522..52532523 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1983C>T (p.Gly661=) |
single nucleotide variant |
Wilson disease [RCV004016382] |
Chr13:51960286 [GRCh38]
Chr13:52534422 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1356A>G (p.Thr452=) |
single nucleotide variant |
Wilson disease [RCV004016386] |
Chr13:51970679 [GRCh38]
Chr13:52544815 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2223T>G (p.Tyr741Ter) |
single nucleotide variant |
Wilson disease [RCV004016536] |
Chr13:51958443 [GRCh38]
Chr13:52532579 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3725A>G (p.Glu1242Gly) |
single nucleotide variant |
not provided [RCV004546993] |
Chr13:51937654 [GRCh38]
Chr13:52511790 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3074T>C (p.Met1025Thr) |
single nucleotide variant |
Wilson disease [RCV004014910]|not specified [RCV004690503] |
Chr13:51944278 [GRCh38]
Chr13:52518414 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3007_3009delinsACA (p.Ala1003Thr) |
indel |
Wilson disease [RCV004586366] |
Chr13:51946335..51946337 [GRCh38]
Chr13:52520471..52520473 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2766A>T (p.Gly922=) |
single nucleotide variant |
Wilson disease [RCV004017124] |
Chr13:51949761 [GRCh38]
Chr13:52523897 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3490G>A (p.Asp1164Asn) |
single nucleotide variant |
Wilson disease [RCV004017108] |
Chr13:51941147 [GRCh38]
Chr13:52515283 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3879G>C (p.Glu1293Asp) |
single nucleotide variant |
Wilson disease [RCV004017099] |
Chr13:51937500 [GRCh38]
Chr13:52511636 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4098G>A (p.Val1366=) |
single nucleotide variant |
Wilson disease [RCV004017096] |
Chr13:51935619 [GRCh38]
Chr13:52509755 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4120A>G (p.Lys1374Glu) |
single nucleotide variant |
Wilson disease [RCV004017095] |
Chr13:51935597 [GRCh38]
Chr13:52509733 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3605C>T (p.Ala1202Val) |
single nucleotide variant |
Wilson disease [RCV004013945] |
Chr13:51939145 [GRCh38]
Chr13:52513281 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.784A>G (p.Arg262Gly) |
single nucleotide variant |
Wilson disease [RCV004015411] |
Chr13:51974436 [GRCh38]
Chr13:52548572 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2190C>G (p.Asp730Glu) |
single nucleotide variant |
Wilson disease [RCV004014108] |
Chr13:51958476 [GRCh38]
Chr13:52532612 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.727_728insA (p.Phe243fs) |
insertion |
Wilson disease [RCV004555804] |
Chr13:51974492..51974493 [GRCh38]
Chr13:52548628..52548629 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.851G>A (p.Gly284Glu) |
single nucleotide variant |
Wilson disease [RCV004014203] |
Chr13:51974369 [GRCh38]
Chr13:52548505 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.732del (p.Asn244fs) |
deletion |
Wilson disease [RCV004547243] |
Chr13:51974488 [GRCh38]
Chr13:52548624 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4231C>T (p.Arg1411Trp) |
single nucleotide variant |
Wilson disease [RCV004014319] |
Chr13:51934923 [GRCh38]
Chr13:52509059 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.280G>A (p.Glu94Lys) |
single nucleotide variant |
Wilson disease [RCV004012918] |
Chr13:51974940 [GRCh38]
Chr13:52549076 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1813C>T (p.Leu605Phe) |
single nucleotide variant |
Wilson disease [RCV004016031] |
Chr13:51964928 [GRCh38]
Chr13:52539064 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4022-11T>C |
single nucleotide variant |
Wilson disease [RCV004014877] |
Chr13:51935706 [GRCh38]
Chr13:52509842 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2691T>C (p.Ala897=) |
single nucleotide variant |
Wilson disease [RCV004016408] |
Chr13:51950046 [GRCh38]
Chr13:52524182 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2366C>G (p.Ser789Ter) |
single nucleotide variant |
Wilson disease [RCV004016546] |
Chr13:51957597 [GRCh38]
Chr13:52531733 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1564del (p.Ala522fs) |
deletion |
Wilson disease [RCV004018126] |
Chr13:51968587 [GRCh38]
Chr13:52542723 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3925G>C (p.Ala1309Pro) |
single nucleotide variant |
Wilson disease [RCV004016601] |
Chr13:51937372 [GRCh38]
Chr13:52511508 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3909T>C (p.Asp1303=) |
single nucleotide variant |
Wilson disease [RCV004016608] |
Chr13:51937388 [GRCh38]
Chr13:52511524 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2731-2A>T |
single nucleotide variant |
Wilson disease [RCV004560369] |
Chr13:51949798 [GRCh38]
Chr13:52523934 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.899A>G (p.Lys300Arg) |
single nucleotide variant |
Wilson disease [RCV004013422] |
Chr13:51974321 [GRCh38]
Chr13:52548457 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3737C>T (p.Ser1246Leu) |
single nucleotide variant |
Wilson disease [RCV004015116] |
Chr13:51937642 [GRCh38]
Chr13:52511778 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.23T>A (p.Ile8Asn) |
single nucleotide variant |
Wilson disease [RCV004016743] |
Chr13:52011315 [GRCh38]
Chr13:52585451 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3445G>A (p.Gly1149Arg) |
single nucleotide variant |
Wilson disease [RCV004577239] |
Chr13:51941192 [GRCh38]
Chr13:52515328 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.176C>G (p.Thr59Ser) |
single nucleotide variant |
Wilson disease [RCV004013642] |
Chr13:51975044 [GRCh38]
Chr13:52549180 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4338C>A (p.Asp1446Glu) |
single nucleotide variant |
Wilson disease [RCV004017087] |
Chr13:51934816 [GRCh38]
Chr13:52508952 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1253A>G (p.Glu418Gly) |
single nucleotide variant |
Wilson disease [RCV004013818] |
Chr13:51973967 [GRCh38]
Chr13:52548103 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3011A>G (p.Gln1004Arg) |
single nucleotide variant |
Wilson disease [RCV004013829]|not specified [RCV004587591] |
Chr13:51946333 [GRCh38]
Chr13:52520469 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3356C>G (p.Pro1119Arg) |
single nucleotide variant |
Wilson disease [RCV004017110] |
Chr13:51942442 [GRCh38]
Chr13:52516578 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3844G>A (p.Val1282Met) |
single nucleotide variant |
Wilson disease [RCV004017101] |
Chr13:51937535 [GRCh38]
Chr13:52511671 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3857C>T (p.Thr1286Ile) |
single nucleotide variant |
Wilson disease [RCV004017100] |
Chr13:51937522 [GRCh38]
Chr13:52511658 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4004G>T (p.Gly1335Val) |
single nucleotide variant |
Wilson disease [RCV004017098] |
Chr13:51937293 [GRCh38]
Chr13:52511429 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2993G>T (p.Gly998Val) |
single nucleotide variant |
Wilson disease [RCV004017120] |
Chr13:51946351 [GRCh38]
Chr13:52520487 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.758G>C (p.Gly253Ala) |
single nucleotide variant |
Wilson disease [RCV004015592] |
Chr13:51974462 [GRCh38]
Chr13:52548598 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.316G>A (p.Val106Ile) |
single nucleotide variant |
Wilson disease [RCV004015821] |
Chr13:51974904 [GRCh38]
Chr13:52549040 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2907G>A (p.Arg969=) |
single nucleotide variant |
Wilson disease [RCV004016137] |
Chr13:51946437 [GRCh38]
Chr13:52520573 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3707T>C (p.Ile1236Thr) |
single nucleotide variant |
Wilson disease [RCV004585173]|not specified [RCV004701916] |
Chr13:51937672 [GRCh38]
Chr13:52511808 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.722A>T (p.Gln241Leu) |
single nucleotide variant |
Wilson disease [RCV004014573] |
Chr13:51974498 [GRCh38]
Chr13:52548634 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1678G>T (p.Ala560Ser) |
single nucleotide variant |
Wilson disease [RCV004014601] |
Chr13:51968473 [GRCh38]
Chr13:52542609 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1919A>C (p.His640Pro) |
single nucleotide variant |
Wilson disease [RCV004013153] |
Chr13:51961864 [GRCh38]
Chr13:52536000 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1446C>G (p.Thr482=) |
single nucleotide variant |
Wilson disease [RCV004016295] |
Chr13:51970589 [GRCh38]
Chr13:52544725 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.660A>G (p.Gly220=) |
single nucleotide variant |
Wilson disease [RCV004013158] |
Chr13:51974560 [GRCh38]
Chr13:52548696 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1541C>A (p.Ala514Asp) |
single nucleotide variant |
Wilson disease [RCV004016346] |
Chr13:51970494 [GRCh38]
Chr13:52544630 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.662C>T (p.Pro221Leu) |
single nucleotide variant |
Wilson disease [RCV004014796] |
Chr13:51974558 [GRCh38]
Chr13:52548694 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1913C>T (p.Ala638Val) |
single nucleotide variant |
Wilson disease [RCV004014816] |
Chr13:51961870 [GRCh38]
Chr13:52536006 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.183A>G (p.Thr61=) |
single nucleotide variant |
Wilson disease [RCV004016378] |
Chr13:51975037 [GRCh38]
Chr13:52549173 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2002del (p.Leu667_Met668insTer) |
deletion |
Wilson disease [RCV004018125] |
Chr13:51960267 [GRCh38]
Chr13:52534403 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2552T>C (p.Met851Thr) |
single nucleotide variant |
Wilson disease [RCV004014908] |
Chr13:51950295 [GRCh38]
Chr13:52524431 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3412+4T>C |
single nucleotide variant |
Wilson disease [RCV004016541] |
Chr13:51942382 [GRCh38]
Chr13:52516518 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4011dup (p.Ile1338fs) |
duplication |
Wilson disease [RCV004018129] |
Chr13:51937285..51937286 [GRCh38]
Chr13:52511421..52511422 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3544G>C (p.Val1182Leu) |
single nucleotide variant |
Wilson disease [RCV004015086] |
Chr13:51941093 [GRCh38]
Chr13:52515229 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3920T>C (p.Val1307Ala) |
single nucleotide variant |
Wilson disease [RCV004013411] |
Chr13:51937377 [GRCh38]
Chr13:52511513 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1990_1991del (p.Val664fs) |
deletion |
Wilson disease [RCV004013430] |
Chr13:51960278..51960279 [GRCh38]
Chr13:52534414..52534415 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1275A>G (p.Ser425=) |
single nucleotide variant |
Wilson disease [RCV004016649] |
Chr13:51973945 [GRCh38]
Chr13:52548081 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3776G>A (p.Gly1259Glu) |
single nucleotide variant |
Wilson disease [RCV004013490] |
Chr13:51937603 [GRCh38]
Chr13:52511739 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.24C>T (p.Ile8=) |
single nucleotide variant |
Wilson disease [RCV004016744] |
Chr13:52011314 [GRCh38]
Chr13:52585450 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2492T>C (p.Val831Ala) |
single nucleotide variant |
Wilson disease [RCV004016864] |
Chr13:51950355 [GRCh38]
Chr13:52524491 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1161del (p.Gln388fs) |
deletion |
Wilson disease [RCV004016916] |
Chr13:51974059 [GRCh38]
Chr13:52548195 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1285+6T>A |
single nucleotide variant |
Wilson disease [RCV004016949] |
Chr13:51973929 [GRCh38]
Chr13:52548065 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4062G>T (p.Met1354Ile) |
single nucleotide variant |
Wilson disease [RCV004013659] |
Chr13:51935655 [GRCh38]
Chr13:52509791 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2770T>C (p.Phe924Leu) |
single nucleotide variant |
Wilson disease [RCV004015389] |
Chr13:51949757 [GRCh38]
Chr13:52523893 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2681C>G (p.Thr894Ser) |
single nucleotide variant |
Wilson disease [RCV004016982] |
Chr13:51950056 [GRCh38]
Chr13:52524192 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.661C>T (p.Pro221Ser) |
single nucleotide variant |
Wilson disease [RCV004015335] |
Chr13:51974559 [GRCh38]
Chr13:52548695 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3481A>G (p.Ile1161Val) |
single nucleotide variant |
Wilson disease [RCV004015402] |
Chr13:51941156 [GRCh38]
Chr13:52515292 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2627C>G (p.Ser876Cys) |
single nucleotide variant |
Wilson disease [RCV004017126] |
Chr13:51950110 [GRCh38]
Chr13:52524246 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2359A>G (p.Lys787Glu) |
single nucleotide variant |
Wilson disease [RCV004017130] |
Chr13:51957604 [GRCh38]
Chr13:52531740 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2245G>T (p.Val749Leu) |
single nucleotide variant |
Wilson disease [RCV004017133] |
Chr13:51958421 [GRCh38]
Chr13:52532557 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3335T>G (p.Ile1112Ser) |
single nucleotide variant |
Wilson disease [RCV004017111] |
Chr13:51942463 [GRCh38]
Chr13:52516599 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4198G>C (p.Val1400Leu) |
single nucleotide variant |
Wilson disease [RCV004017093] |
Chr13:51934956 [GRCh38]
Chr13:52509092 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4360C>G (p.Leu1454Val) |
single nucleotide variant |
Wilson disease [RCV004017085] |
Chr13:51934794 [GRCh38]
Chr13:52508930 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3016G>A (p.Gly1006Ser) |
single nucleotide variant |
Wilson disease [RCV004017119] |
Chr13:51946328 [GRCh38]
Chr13:52520464 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3612G>A (p.Leu1204=) |
single nucleotide variant |
Wilson disease [RCV004017106] |
Chr13:51939138 [GRCh38]
Chr13:52513274 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4207C>T (p.His1403Tyr) |
single nucleotide variant |
Wilson disease [RCV004017092] |
Chr13:51934947 [GRCh38]
Chr13:52509083 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1939A>G (p.Ile647Val) |
single nucleotide variant |
Wilson disease [RCV004013815] |
Chr13:51961844 [GRCh38]
Chr13:52535980 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.77C>T (p.Thr26Ile) |
single nucleotide variant |
Wilson disease [RCV004014146] |
Chr13:51975143 [GRCh38]
Chr13:52549279 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1188A>T (p.Glu396Asp) |
single nucleotide variant |
Wilson disease [RCV004015753] |
Chr13:51974032 [GRCh38]
Chr13:52548168 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3412G>C (p.Asp1138His) |
single nucleotide variant |
Wilson disease [RCV003991515] |
Chr13:51942386 [GRCh38]
Chr13:52516522 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1493C>A (p.Thr498Asn) |
single nucleotide variant |
Wilson disease [RCV004014329] |
Chr13:51970542 [GRCh38]
Chr13:52544678 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3479C>G (p.Thr1160Ser) |
single nucleotide variant |
Wilson disease [RCV004015814] |
Chr13:51941158 [GRCh38]
Chr13:52515294 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2995A>T (p.Thr999Ser) |
single nucleotide variant |
Wilson disease [RCV004014276] |
Chr13:51946349 [GRCh38]
Chr13:52520485 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2264A>C (p.Lys755Thr) |
single nucleotide variant |
Wilson disease [RCV004014348] |
Chr13:51958402 [GRCh38]
Chr13:52532538 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1900A>G (p.Arg634Gly) |
single nucleotide variant |
Wilson disease [RCV004015974]|not specified [RCV004801430] |
Chr13:51961883 [GRCh38]
Chr13:52536019 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3639T>G (p.Gly1213=) |
single nucleotide variant |
Wilson disease [RCV004015920] |
Chr13:51939111 [GRCh38]
Chr13:52513247 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1872A>T (p.Glu624Asp) |
single nucleotide variant |
Wilson disease [RCV004014407] |
Chr13:51961911 [GRCh38]
Chr13:52536047 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4205T>G (p.Val1402Gly) |
single nucleotide variant |
Wilson disease [RCV004016003] |
Chr13:51934949 [GRCh38]
Chr13:52509085 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4139A>G (p.Asp1380Gly) |
single nucleotide variant |
Wilson disease [RCV004012888] |
Chr13:51935015 [GRCh38]
Chr13:52509151 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1657G>A (p.Ala553Thr) |
single nucleotide variant |
Wilson disease [RCV004012932] |
Chr13:51968494 [GRCh38]
Chr13:52542630 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4125-14T>A |
single nucleotide variant |
Wilson disease [RCV004012974] |
Chr13:51935043 [GRCh38]
Chr13:52509179 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3451del (p.Arg1151fs) |
deletion |
Wilson disease [RCV004573946] |
Chr13:51941186 [GRCh38]
Chr13:52515322 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1211dup (p.Asn404fs) |
duplication |
Wilson disease [RCV004573953] |
Chr13:51974008..51974009 [GRCh38]
Chr13:52548144..52548145 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.561T>A (p.Tyr187Ter) |
single nucleotide variant |
Wilson disease [RCV004576173] |
Chr13:51974659 [GRCh38]
Chr13:52548795 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1707+5G>A |
single nucleotide variant |
Wilson disease [RCV004573950] |
Chr13:51968439 [GRCh38]
Chr13:52542575 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3842G>C (p.Gly1281Ala) |
single nucleotide variant |
not specified [RCV004699728] |
Chr13:51937537 [GRCh38]
Chr13:52511673 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NC_000013.10:g.(?_52515197)_(52518447_?)del |
deletion |
Wilson disease [RCV004578233] |
Chr13:52515197..52518447 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4049T>C (p.Leu1350Pro) |
single nucleotide variant |
Wilson disease [RCV004573939] |
Chr13:51935668 [GRCh38]
Chr13:52509804 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.571_575del (p.Leu191fs) |
deletion |
Wilson disease [RCV004573942] |
Chr13:51974645..51974649 [GRCh38]
Chr13:52548781..52548785 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2047del (p.Val683fs) |
deletion |
Wilson disease [RCV004573949] |
Chr13:51960222 [GRCh38]
Chr13:52534358 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3278_3279delinsGCTGTA (p.Asp1093fs) |
indel |
Wilson disease [RCV004573945] |
Chr13:51942519..51942520 [GRCh38]
Chr13:52516655..52516656 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NC_000013.10:g.(?_52511949)_(52515321_?)del |
deletion |
Wilson disease [RCV004578236] |
Chr13:52511949..52515321 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2448-1G>A |
single nucleotide variant |
Wilson disease [RCV004573952] |
Chr13:51950400 [GRCh38]
Chr13:52524536 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1725dup (p.Ala576fs) |
duplication |
Wilson disease [RCV004573944] |
Chr13:51965015..51965016 [GRCh38]
Chr13:52539151..52539152 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NC_000013.10:g.(?_52513167)_(52520634_?)del |
deletion |
Wilson disease [RCV004578232] |
Chr13:52513167..52520634 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52542560)_(52544905_?)del |
deletion |
Wilson disease [RCV004578234] |
Chr13:52542560..52544905 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4010C>T (p.Pro1337Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004687798] |
Chr13:51937287 [GRCh38]
Chr13:52511423 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3754del (p.Val1252fs) |
deletion |
Wilson disease [RCV004595709] |
Chr13:51937625 [GRCh38]
Chr13:52511761 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2296A>C (p.Thr766Pro) |
single nucleotide variant |
Wilson disease [RCV004595710] |
Chr13:51958370 [GRCh38]
Chr13:52532506 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3058A>G (p.Lys1020Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004687797] |
Chr13:51946286 [GRCh38]
Chr13:52520422 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3619_3620inv (p.His1207Cys) |
inversion |
not specified [RCV004690747] |
Chr13:51939130..51939131 [GRCh38]
Chr13:52513266..52513267 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1750T>G (p.Ser584Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004680486] |
Chr13:51964991 [GRCh38]
Chr13:52539127 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.748G>C (p.Gly250Arg) |
single nucleotide variant |
not specified [RCV004689507] |
Chr13:51974472 [GRCh38]
Chr13:52548608 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2415del (p.Val805_Val806insTer) |
deletion |
Wilson disease [RCV004573948] |
Chr13:51957548 [GRCh38]
Chr13:52531684 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2891_2894del (p.Thr964fs) |
microsatellite |
Wilson disease [RCV004573947] |
Chr13:51946450..51946453 [GRCh38]
Chr13:52520586..52520589 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NC_000013.10:g.(?_52548051)_(52585933_?)del |
deletion |
Wilson disease [RCV004578231] |
Chr13:52548051..52585933 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52585403)_(52585933_?)del |
deletion |
Wilson disease [RCV004578230] |
Chr13:52585403..52585933 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52508892)_(52542763_?)del |
deletion |
Wilson disease [RCV004578235] |
Chr13:52508892..52542763 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2960T>C (p.Leu987Pro) |
single nucleotide variant |
not provided [RCV004575353] |
Chr13:51946384 [GRCh38]
Chr13:52520520 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NC_000013.10:g.(?_52518407)_(52518976_?)del |
deletion |
Wilson disease [RCV004578229] |
Chr13:52518407..52518976 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NC_000013.10:g.(?_52540123)_(52548920_?)del |
deletion |
Wilson disease [RCV004578237] |
Chr13:52540123..52548920 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3751A>T (p.Lys1251Ter) |
single nucleotide variant |
Wilson disease [RCV004576174] |
Chr13:51937628 [GRCh38]
Chr13:52511764 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.364G>T (p.Glu122Ter) |
single nucleotide variant |
Wilson disease [RCV004576175] |
Chr13:51974856 [GRCh38]
Chr13:52548992 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3035G>A (p.Gly1012Asp) |
single nucleotide variant |
not specified [RCV004702857] |
Chr13:51946309 [GRCh38]
Chr13:52520445 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1354A>C (p.Thr452Pro) |
single nucleotide variant |
not provided [RCV004762717] |
|
uncertain significance |
| NM_000053.4(ATP7B):c.1870-49A>G |
single nucleotide variant |
not specified [RCV004766864] |
Chr13:51961962 [GRCh38]
Chr13:52536098 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4059G>C (p.Trp1353Cys) |
single nucleotide variant |
Wilson disease [RCV005006562]|not provided [RCV004793950] |
Chr13:51935658 [GRCh38]
Chr13:52509794 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2865+6T>C |
single nucleotide variant |
Wilson disease [RCV005105098]|not provided [RCV004793951] |
Chr13:51949656 [GRCh38]
Chr13:52523792 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2336G>T (p.Trp779Leu) |
single nucleotide variant |
not specified [RCV004766499] |
Chr13:51958330 [GRCh38]
Chr13:52532466 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4261C>G (p.Gln1421Glu) |
single nucleotide variant |
Wilson disease [RCV004806997] |
Chr13:51934893 [GRCh38]
Chr13:52509029 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1488C>T (p.Gly496=) |
single nucleotide variant |
Wilson disease [RCV004771403] |
Chr13:51970547 [GRCh38]
Chr13:52544683 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4158A>G (p.Ala1386=) |
single nucleotide variant |
Wilson disease [RCV004807523] |
Chr13:51934996 [GRCh38]
Chr13:52509132 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3936C>G (p.His1312Gln) |
single nucleotide variant |
Wilson disease [RCV004807587] |
Chr13:51937361 [GRCh38]
Chr13:52511497 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3835G>T (p.Asp1279Tyr) |
single nucleotide variant |
Wilson disease [RCV004807619] |
Chr13:51937544 [GRCh38]
Chr13:52511680 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3712A>G (p.Lys1238Glu) |
single nucleotide variant |
Wilson disease [RCV004807642] |
Chr13:51937667 [GRCh38]
Chr13:52511803 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3426G>T (p.Gln1142His) |
single nucleotide variant |
Wilson disease [RCV004807734] |
Chr13:51941211 [GRCh38]
Chr13:52515347 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2251G>A (p.Ala751Thr) |
single nucleotide variant |
not specified [RCV004700004] |
Chr13:51958415 [GRCh38]
Chr13:52532551 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.448_452del (p.Glu150fs) |
deletion |
Wilson disease [RCV004720618] |
Chr13:51974768..51974772 [GRCh38]
Chr13:52548904..52548908 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.2(ATP7B):c.-362C>T |
single nucleotide variant |
Wilson disease [RCV004764675] |
Chr13:52011699 [GRCh38]
Chr13:52585835 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3983C>T (p.Ala1328Val) |
single nucleotide variant |
not specified [RCV004766734] |
Chr13:51937314 [GRCh38]
Chr13:52511450 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.509G>T (p.Gly170Val) |
single nucleotide variant |
not specified [RCV004703086] |
Chr13:51974711 [GRCh38]
Chr13:52548847 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2806_2808del (p.Leu936del) |
deletion |
not specified [RCV004699937] |
Chr13:51949719..51949721 [GRCh38]
Chr13:52523855..52523857 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2075T>C (p.Leu692Pro) |
single nucleotide variant |
Wilson disease [RCV004766858] |
Chr13:51960194 [GRCh38]
Chr13:52534330 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2968G>C (p.Ala990Pro) |
single nucleotide variant |
Wilson disease [RCV004720567] |
Chr13:51946376 [GRCh38]
Chr13:52520512 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.92C>T (p.Pro31Leu) |
single nucleotide variant |
ATP7B-related disorder [RCV004730743] |
Chr13:51975128 [GRCh38]
Chr13:52549264 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2858dup (p.Tyr953Ter) |
duplication |
ATP7B-related disorder [RCV004732454] |
Chr13:51949668..51949669 [GRCh38]
Chr13:52523804..52523805 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2395C>T (p.Gln799Ter) |
single nucleotide variant |
ATP7B-related disorder [RCV004732198]|Wilson disease [RCV005103647] |
Chr13:51957568 [GRCh38]
Chr13:52531704 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3905A>G (p.Asn1302Ser) |
single nucleotide variant |
Wilson disease [RCV004807592] |
Chr13:51937392 [GRCh38]
Chr13:52511528 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3882A>C (p.Ala1294=) |
single nucleotide variant |
Wilson disease [RCV004807601] |
Chr13:51937497 [GRCh38]
Chr13:52511633 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3775G>A (p.Gly1259Arg) |
single nucleotide variant |
Wilson disease [RCV004807629] |
Chr13:51937604 [GRCh38]
Chr13:52511740 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3413A>T (p.Asp1138Val) |
single nucleotide variant |
Wilson disease [RCV004807748] |
Chr13:51941224 [GRCh38]
Chr13:52515360 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2899A>G (p.Ile967Val) |
single nucleotide variant |
Wilson disease [RCV004807838] |
Chr13:51946445 [GRCh38]
Chr13:52520581 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2865+6_2865+12del |
deletion |
Wilson disease [RCV004807845] |
Chr13:51949650..51949656 [GRCh38]
Chr13:52523786..52523792 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2820dup (p.Val941fs) |
duplication |
Wilson disease [RCV004807849] |
Chr13:51949706..51949707 [GRCh38]
Chr13:52523842..52523843 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3234del (p.Cys1079fs) |
deletion |
Wilson disease [RCV004807772] |
Chr13:51944118 [GRCh38]
Chr13:52518254 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.3334A>G (p.Ile1112Val) |
single nucleotide variant |
not provided [RCV004775031] |
Chr13:51942464 [GRCh38]
Chr13:52516600 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2253T>C (p.Ala751=) |
single nucleotide variant |
Wilson disease [RCV004808504] |
Chr13:51958413 [GRCh38]
Chr13:52532549 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3871del (p.Ala1291fs) |
deletion |
Wilson disease [RCV004764271] |
|
likely pathogenic|uncertain significance |
| NM_000053.4(ATP7B):c.2954G>A (p.Cys985Tyr) |
single nucleotide variant |
not specified [RCV004699915] |
Chr13:51946390 [GRCh38]
Chr13:52520526 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1242A>C (p.Arg414Ser) |
single nucleotide variant |
not provided [RCV004722665] |
Chr13:51973978 [GRCh38]
Chr13:52548114 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3181G>C (p.Gly1061Arg) |
single nucleotide variant |
not specified [RCV004702855] |
Chr13:51944171 [GRCh38]
Chr13:52518307 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1106C>T (p.Thr369Ile) |
single nucleotide variant |
not provided [RCV004761511] |
|
uncertain significance |
| GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3 |
copy number gain |
not provided [RCV004819310] |
Chr13:19436287..92292639 [GRCh37]
Chr13:13q11-31.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4227G>T (p.Arg1409Ser) |
single nucleotide variant |
Wilson disease [RCV005006915] |
Chr13:51934927 [GRCh38]
Chr13:52509063 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3632G>C (p.Ser1211Thr) |
single nucleotide variant |
Wilson disease [RCV005006925] |
Chr13:51939118 [GRCh38]
Chr13:52513254 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3418_3419delinsTC (p.Val1140Ser) |
indel |
Wilson disease [RCV005006929] |
Chr13:51941218..51941219 [GRCh38]
Chr13:52515354..52515355 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3036del (p.Lys1013fs) |
deletion |
Wilson disease [RCV005006935] |
Chr13:51946308 [GRCh38]
Chr13:52520444 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2705T>C (p.Leu902Pro) |
single nucleotide variant |
Wilson disease [RCV005006939] |
Chr13:51950032 [GRCh38]
Chr13:52524168 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2584A>G (p.Met862Val) |
single nucleotide variant |
Wilson disease [RCV005006942] |
Chr13:51950153 [GRCh38]
Chr13:52524289 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2506G>C (p.Gly836Arg) |
single nucleotide variant |
Wilson disease [RCV005006944] |
Chr13:51950341 [GRCh38]
Chr13:52524477 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2008T>G (p.Tyr670Asp) |
single nucleotide variant |
Wilson disease [RCV005006953] |
Chr13:51960261 [GRCh38]
Chr13:52534397 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1543+40G>A |
single nucleotide variant |
Wilson disease [RCV005006956] |
Chr13:51970452 [GRCh38]
Chr13:52544588 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1288A>T (p.Ser430Cys) |
single nucleotide variant |
Wilson disease [RCV005006958] |
Chr13:51970747 [GRCh38]
Chr13:52544883 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1223T>G (p.Ile408Ser) |
single nucleotide variant |
Wilson disease [RCV005006959] |
Chr13:51973997 [GRCh38]
Chr13:52548133 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1157G>A (p.Gly386Glu) |
single nucleotide variant |
Wilson disease [RCV005006961] |
Chr13:51974063 [GRCh38]
Chr13:52548199 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.889G>T (p.Ala297Ser) |
single nucleotide variant |
Wilson disease [RCV005006964] |
Chr13:51974331 [GRCh38]
Chr13:52548467 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.542_543del (p.Gln181fs) |
deletion |
Wilson disease [RCV005006967] |
Chr13:51974677..51974678 [GRCh38]
Chr13:52548813..52548814 [GRCh37]
Chr13:13q14.3 |
pathogenic|likely pathogenic |
| NM_000053.4(ATP7B):c.527T>C (p.Val176Ala) |
single nucleotide variant |
Wilson disease [RCV005006968] |
Chr13:51974693 [GRCh38]
Chr13:52548829 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.430G>A (p.Val144Met) |
single nucleotide variant |
Wilson disease [RCV005006971] |
Chr13:51974790 [GRCh38]
Chr13:52548926 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.411del (p.Leu138fs) |
deletion |
Wilson disease [RCV005006972] |
Chr13:51974809 [GRCh38]
Chr13:52548945 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.372C>G (p.Ser124Arg) |
single nucleotide variant |
Wilson disease [RCV005006973] |
Chr13:51974848 [GRCh38]
Chr13:52548984 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.79C>T (p.Arg27Cys) |
single nucleotide variant |
Wilson disease [RCV005006976] |
Chr13:51975141 [GRCh38]
Chr13:52549277 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.6del (p.Glu3fs) |
deletion |
Wilson disease [RCV005006978] |
Chr13:52011332 [GRCh38]
Chr13:52585468 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.-36C>T |
single nucleotide variant |
Wilson disease [RCV005006979] |
Chr13:52011373 [GRCh38]
Chr13:52585509 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.3(chr13:52503393-52764340)x1 |
copy number loss |
not provided [RCV004819855] |
Chr13:52503393..52764340 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3392G>A (p.Gly1131Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004967055] |
Chr13:51942406 [GRCh38]
Chr13:52516542 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q12.3-14.3(chr13:32076445-54495559)x1 |
copy number loss |
not provided [RCV004819377] |
Chr13:32076445..54495559 [GRCh37]
Chr13:13q12.3-14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.4151A>G (p.Tyr1384Cys) |
single nucleotide variant |
Wilson disease [RCV005006917] |
Chr13:51935003 [GRCh38]
Chr13:52509139 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3750del (p.Lys1251fs) |
deletion |
Wilson disease [RCV005006923] |
Chr13:51937629 [GRCh38]
Chr13:52511765 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2870C>G (p.Pro957Arg) |
single nucleotide variant |
Wilson disease [RCV005006938] |
Chr13:51946474 [GRCh38]
Chr13:52520610 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2199C>G (p.Ile733Met) |
single nucleotide variant |
Wilson disease [RCV005006950] |
Chr13:51958467 [GRCh38]
Chr13:52532603 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1707+9T>G |
single nucleotide variant |
Wilson disease [RCV005006955] |
Chr13:51968435 [GRCh38]
Chr13:52542571 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1007C>T (p.Thr336Ile) |
single nucleotide variant |
Wilson disease [RCV005006963] |
Chr13:51974213 [GRCh38]
Chr13:52548349 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.494T>G (p.Val165Gly) |
single nucleotide variant |
Wilson disease [RCV005006969] |
Chr13:51974726 [GRCh38]
Chr13:52548862 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.355A>C (p.Met119Leu) |
single nucleotide variant |
Wilson disease [RCV005006974] |
Chr13:51974865 [GRCh38]
Chr13:52549001 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4180C>A (p.Pro1394Thr) |
single nucleotide variant |
Wilson disease [RCV005006916] |
Chr13:51934974 [GRCh38]
Chr13:52509110 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4125C>G (p.Cys1375Trp) |
single nucleotide variant |
Wilson disease [RCV005006918] |
Chr13:51935029 [GRCh38]
Chr13:52509165 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3904-12C>T |
single nucleotide variant |
Wilson disease [RCV005006920] |
Chr13:51937405 [GRCh38]
Chr13:52511541 [GRCh37]
Chr13:13q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000053.4(ATP7B):c.3699+1G>T |
single nucleotide variant |
Wilson disease [RCV005006924] |
Chr13:51939050 [GRCh38]
Chr13:52513186 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3424dup (p.Gln1142fs) |
duplication |
Wilson disease [RCV005006928] |
Chr13:51941212..51941213 [GRCh38]
Chr13:52515348..52515349 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3274A>C (p.Thr1092Pro) |
single nucleotide variant |
Wilson disease [RCV005006933] |
Chr13:51942524 [GRCh38]
Chr13:52516660 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2695A>T (p.Ile899Phe) |
single nucleotide variant |
Wilson disease [RCV005006940] |
Chr13:51950042 [GRCh38]
Chr13:52524178 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2509G>A (p.Gly837Arg) |
single nucleotide variant |
Wilson disease [RCV005006943] |
Chr13:51950338 [GRCh38]
Chr13:52524474 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2392C>G (p.Leu798Val) |
single nucleotide variant |
Wilson disease [RCV005006946] |
Chr13:51957571 [GRCh38]
Chr13:52531707 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1500A>G (p.Ala500=) |
single nucleotide variant |
Wilson disease [RCV005006957] |
Chr13:51970535 [GRCh38]
Chr13:52544671 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.4306_4316del (p.Asp1436fs) |
deletion |
Wilson disease [RCV005006914] |
Chr13:51934838..51934848 [GRCh38]
Chr13:52508974..52508984 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4021+5_4021+8del |
deletion |
Wilson disease [RCV005006919] |
Chr13:51937268..51937271 [GRCh38]
Chr13:52511404..52511407 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3796G>T (p.Gly1266Trp) |
single nucleotide variant |
Wilson disease [RCV005006921] |
Chr13:51937583 [GRCh38]
Chr13:52511719 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3774del (p.Lys1260fs) |
deletion |
Wilson disease [RCV005006922] |
Chr13:51937605 [GRCh38]
Chr13:52511741 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3563T>C (p.Leu1188Pro) |
single nucleotide variant |
Wilson disease [RCV005006926] |
Chr13:51939187 [GRCh38]
Chr13:52513323 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3535G>A (p.Ala1179Thr) |
single nucleotide variant |
Wilson disease [RCV005006927] |
Chr13:51941102 [GRCh38]
Chr13:52515238 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3361A>G (p.Ser1121Gly) |
single nucleotide variant |
Wilson disease [RCV005006931] |
Chr13:51942437 [GRCh38]
Chr13:52516573 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3256_3259dup (p.Thr1087fs) |
microsatellite |
Wilson disease [RCV005006934] |
Chr13:51942538..51942539 [GRCh38]
Chr13:52516674..52516675 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3022C>T (p.Leu1008Phe) |
single nucleotide variant |
Wilson disease [RCV005006936] |
Chr13:51946322 [GRCh38]
Chr13:52520458 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2682del (p.Thr895fs) |
deletion |
Wilson disease [RCV005006941] |
Chr13:51950055 [GRCh38]
Chr13:52524191 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2467dup (p.Glu823fs) |
duplication |
Wilson disease [RCV005006945] |
Chr13:51950379..51950380 [GRCh38]
Chr13:52524515..52524516 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2368_2373delinsTGTCTCTGGCTAAA (p.Glu790fs) |
indel |
Wilson disease [RCV005006947] |
Chr13:51957590..51957595 [GRCh38]
Chr13:52531726..52531731 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2252C>A (p.Ala751Asp) |
single nucleotide variant |
Wilson disease [RCV005006949] |
Chr13:51958414 [GRCh38]
Chr13:52532550 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2122-6T>C |
single nucleotide variant |
Wilson disease [RCV005006951] |
Chr13:51958550 [GRCh38]
Chr13:52532686 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2072G>A (p.Gly691Glu) |
single nucleotide variant |
Wilson disease [RCV005006952] |
Chr13:51960197 [GRCh38]
Chr13:52534333 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1802C>T (p.Thr601Ile) |
single nucleotide variant |
Wilson disease [RCV005006954] |
Chr13:51964939 [GRCh38]
Chr13:52539075 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1163A>G (p.Gln388Arg) |
single nucleotide variant |
Wilson disease [RCV005006960] |
Chr13:51974057 [GRCh38]
Chr13:52548193 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.583G>A (p.Glu195Lys) |
single nucleotide variant |
Wilson disease [RCV005006966] |
Chr13:51974637 [GRCh38]
Chr13:52548773 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.494T>C (p.Val165Ala) |
single nucleotide variant |
Wilson disease [RCV005006970] |
Chr13:51974726 [GRCh38]
Chr13:52548862 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.164_166del (p.Ser55_Gln56delinsTer) |
deletion |
Wilson disease [RCV005006975] |
Chr13:51975054..51975056 [GRCh38]
Chr13:52549190..52549192 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3373A>C (p.Ser1125Arg) |
single nucleotide variant |
Wilson disease [RCV005006930] |
Chr13:51942425 [GRCh38]
Chr13:52516561 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2931G>A (p.Thr977=) |
single nucleotide variant |
Wilson disease [RCV005006937] |
Chr13:51946413 [GRCh38]
Chr13:52520549 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1025G>T (p.Ser342Ile) |
single nucleotide variant |
Wilson disease [RCV005006962] |
Chr13:51974195 [GRCh38]
Chr13:52548331 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.652A>C (p.Ser218Arg) |
single nucleotide variant |
Wilson disease [RCV005006965] |
Chr13:51974568 [GRCh38]
Chr13:52548704 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.51+5G>A |
single nucleotide variant |
Wilson disease [RCV005006977] |
Chr13:52011282 [GRCh38]
Chr13:52585418 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.2856A>C (p.Arg952Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004967056] |
Chr13:51949671 [GRCh38]
Chr13:52523807 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.79C>G (p.Arg27Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004967057] |
Chr13:51975141 [GRCh38]
Chr13:52549277 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| GRCh37/hg19 13q14.2-21.31(chr13:50232243-65699459)x1 |
copy number loss |
not provided [RCV004819854] |
Chr13:50232243..65699459 [GRCh37]
Chr13:13q14.2-21.31 |
uncertain significance |
| NM_000053.4(ATP7B):c.2111C>A (p.Thr704Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004967058] |
Chr13:51960158 [GRCh38]
Chr13:52534294 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2386dup (p.Met796fs) |
duplication |
Wilson disease [RCV005105601] |
Chr13:51957576..51957577 [GRCh38]
Chr13:52531712..52531713 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.756A>G (p.Gln252=) |
single nucleotide variant |
Wilson disease [RCV005062756] |
Chr13:51974464 [GRCh38]
Chr13:52548600 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1870-18T>G |
single nucleotide variant |
Wilson disease [RCV005147764] |
Chr13:51961931 [GRCh38]
Chr13:52536067 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2356-17T>G |
single nucleotide variant |
Wilson disease [RCV005195955] |
Chr13:51957624 [GRCh38]
Chr13:52531760 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1543+7G>C |
single nucleotide variant |
Wilson disease [RCV005176109] |
Chr13:51970485 [GRCh38]
Chr13:52544621 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3699+19G>T |
single nucleotide variant |
Wilson disease [RCV005196735] |
Chr13:51939032 [GRCh38]
Chr13:52513168 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2012dup (p.Met671fs) |
duplication |
Wilson disease [RCV005170546] |
Chr13:51960256..51960257 [GRCh38]
Chr13:52534392..52534393 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1544-3C>G |
single nucleotide variant |
Wilson disease [RCV005208273] |
Chr13:51968610 [GRCh38]
Chr13:52542746 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2842G>A (p.Gly948Ser) |
single nucleotide variant |
Wilson disease [RCV005208450] |
Chr13:51949685 [GRCh38]
Chr13:52523821 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.849A>G (p.Leu283=) |
single nucleotide variant |
Wilson disease [RCV005173632] |
Chr13:51974371 [GRCh38]
Chr13:52548507 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2576-4C>A |
single nucleotide variant |
Wilson disease [RCV005195631] |
Chr13:51950165 [GRCh38]
Chr13:52524301 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-20T>G |
single nucleotide variant |
Wilson disease [RCV005195298] |
Chr13:51970769 [GRCh38]
Chr13:52544905 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2936T>A (p.Leu979Gln) |
single nucleotide variant |
not specified [RCV005088352] |
Chr13:51946408 [GRCh38]
Chr13:52520544 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3798G>T (p.Gly1266=) |
single nucleotide variant |
Wilson disease [RCV005229673] |
Chr13:51937581 [GRCh38]
Chr13:52511717 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.295A>C (p.Thr99Pro) |
single nucleotide variant |
Wilson disease [RCV005066719] |
Chr13:51974925 [GRCh38]
Chr13:52549061 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3832G>A (p.Ala1278Thr) |
single nucleotide variant |
Wilson disease [RCV005208272] |
Chr13:51937547 [GRCh38]
Chr13:52511683 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1870-20C>G |
single nucleotide variant |
Wilson disease [RCV005060814] |
Chr13:51961933 [GRCh38]
Chr13:52536069 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1495T>A (p.Cys499Ser) |
single nucleotide variant |
Wilson disease [RCV005185562] |
Chr13:51970540 [GRCh38]
Chr13:52544676 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2478G>A (p.Gln826=) |
single nucleotide variant |
Wilson disease [RCV005130572] |
Chr13:51950369 [GRCh38]
Chr13:52524505 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4124+12C>G |
single nucleotide variant |
Wilson disease [RCV005132513] |
Chr13:51935581 [GRCh38]
Chr13:52509717 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.299_300del (p.Val100fs) |
microsatellite |
Wilson disease [RCV005125989] |
Chr13:51974920..51974921 [GRCh38]
Chr13:52549056..52549057 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.574A>G (p.Ile192Val) |
single nucleotide variant |
Wilson disease [RCV005179175] |
Chr13:51974646 [GRCh38]
Chr13:52548782 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1830G>C (p.Pro610=) |
single nucleotide variant |
Wilson disease [RCV005182081] |
Chr13:51964911 [GRCh38]
Chr13:52539047 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2356-15C>G |
single nucleotide variant |
Wilson disease [RCV005078615] |
Chr13:51957622 [GRCh38]
Chr13:52531758 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2488A>G (p.Ile830Val) |
single nucleotide variant |
Wilson disease [RCV005190849] |
Chr13:51950359 [GRCh38]
Chr13:52524495 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1641G>A (p.Gln547=) |
single nucleotide variant |
Wilson disease [RCV005120064] |
Chr13:51968510 [GRCh38]
Chr13:52542646 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3413-11C>T |
single nucleotide variant |
Wilson disease [RCV005163626] |
Chr13:51941235 [GRCh38]
Chr13:52515371 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2901_2902dup (p.Ile968fs) |
duplication |
Wilson disease [RCV005143455] |
Chr13:51946441..51946442 [GRCh38]
Chr13:52520577..52520578 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3060+13_3060+16del |
deletion |
Wilson disease [RCV005127433] |
Chr13:51946268..51946271 [GRCh38]
Chr13:52520404..52520407 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3060+11A>T |
single nucleotide variant |
Wilson disease [RCV005127434] |
Chr13:51946273 [GRCh38]
Chr13:52520409 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3060+15C>T |
single nucleotide variant |
Wilson disease [RCV005206621] |
Chr13:51946269 [GRCh38]
Chr13:52520405 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3859G>T (p.Gly1287Cys) |
single nucleotide variant |
Wilson disease [RCV005179587] |
Chr13:51937520 [GRCh38]
Chr13:52511656 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.1870-11T>G |
single nucleotide variant |
Wilson disease [RCV005184255] |
Chr13:51961924 [GRCh38]
Chr13:52536060 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.51+18G>T |
single nucleotide variant |
Wilson disease [RCV005161362] |
Chr13:52011269 [GRCh38]
Chr13:52585405 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1444A>G (p.Thr482Ala) |
single nucleotide variant |
Wilson disease [RCV005144081] |
Chr13:51970591 [GRCh38]
Chr13:52544727 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.1522A>C (p.Arg508=) |
single nucleotide variant |
Wilson disease [RCV005168812] |
Chr13:51970513 [GRCh38]
Chr13:52544649 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3424C>T (p.Gln1142Ter) |
single nucleotide variant |
Wilson disease [RCV005203182] |
Chr13:51941213 [GRCh38]
Chr13:52515349 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2154C>T (p.Ala718=) |
single nucleotide variant |
Wilson disease [RCV005199041] |
Chr13:51958512 [GRCh38]
Chr13:52532648 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3392del (p.Gly1131fs) |
deletion |
Wilson disease [RCV005130762] |
Chr13:51942406 [GRCh38]
Chr13:52516542 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3989T>A (p.Ile1330Asn) |
single nucleotide variant |
Wilson disease [RCV005130947] |
Chr13:51937308 [GRCh38]
Chr13:52511444 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2037C>T (p.His679=) |
single nucleotide variant |
Wilson disease [RCV005160200] |
Chr13:51960232 [GRCh38]
Chr13:52534368 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2481G>T (p.Arg827=) |
single nucleotide variant |
Wilson disease [RCV005120146] |
Chr13:51950366 [GRCh38]
Chr13:52524502 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1871_1893del (p.Glu624fs) |
deletion |
Wilson disease [RCV005137759] |
Chr13:51961890..51961912 [GRCh38]
Chr13:52536026..52536048 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.2931G>C (p.Thr977=) |
single nucleotide variant |
Wilson disease [RCV005143042] |
Chr13:51946413 [GRCh38]
Chr13:52520549 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.51+17dup |
duplication |
Wilson disease [RCV005117719] |
Chr13:52011269..52011270 [GRCh38]
Chr13:52585405..52585406 [GRCh37]
Chr13:13q14.3 |
benign |
| NM_000053.4(ATP7B):c.1011T>C (p.Asp337=) |
single nucleotide variant |
Wilson disease [RCV005078945] |
Chr13:51974209 [GRCh38]
Chr13:52548345 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.480C>A (p.Ser160=) |
single nucleotide variant |
Wilson disease [RCV005169923] |
Chr13:51974740 [GRCh38]
Chr13:52548876 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4021+16C>T |
single nucleotide variant |
Wilson disease [RCV005081580] |
Chr13:51937260 [GRCh38]
Chr13:52511396 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3663G>A (p.Gly1221=) |
single nucleotide variant |
Wilson disease [RCV005127370] |
Chr13:51939087 [GRCh38]
Chr13:52513223 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1286-191_1365delinsGAA |
indel |
Wilson disease [RCV005127371] |
Chr13:51970670..51970940 [GRCh38]
Chr13:52544806..52545076 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.4281G>A (p.Gln1427=) |
single nucleotide variant |
Wilson disease [RCV005206998] |
Chr13:51934873 [GRCh38]
Chr13:52509009 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3093C>G (p.Thr1031=) |
single nucleotide variant |
Wilson disease [RCV005137764] |
Chr13:51944259 [GRCh38]
Chr13:52518395 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1544-11G>C |
single nucleotide variant |
Wilson disease [RCV005123262] |
Chr13:51968618 [GRCh38]
Chr13:52542754 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.780A>G (p.Gln260=) |
single nucleotide variant |
Wilson disease [RCV005184178] |
Chr13:51974440 [GRCh38]
Chr13:52548576 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1793C>T (p.Ala598Val) |
single nucleotide variant |
Wilson disease [RCV005076741] |
Chr13:51964948 [GRCh38]
Chr13:52539084 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.3234C>G (p.Tyr1078Ter) |
single nucleotide variant |
Wilson disease [RCV005128233] |
Chr13:51944118 [GRCh38]
Chr13:52518254 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.3276G>C (p.Thr1092=) |
single nucleotide variant |
Wilson disease [RCV005138067] |
Chr13:51942522 [GRCh38]
Chr13:52516658 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3099C>G (p.Thr1033=) |
single nucleotide variant |
Wilson disease [RCV005124031] |
Chr13:51944253 [GRCh38]
Chr13:52518389 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1285G>A (p.Glu429Lys) |
single nucleotide variant |
Wilson disease [RCV005190383] |
Chr13:51973935 [GRCh38]
Chr13:52548071 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2709G>A (p.Val903=) |
single nucleotide variant |
Wilson disease [RCV005121191] |
Chr13:51950028 [GRCh38]
Chr13:52524164 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.4010C>G (p.Pro1337Arg) |
single nucleotide variant |
Wilson disease [RCV005077283] |
Chr13:51937287 [GRCh38]
Chr13:52511423 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1543G>A (p.Gly515Ser) |
single nucleotide variant |
Wilson disease [RCV005075336] |
Chr13:51970492 [GRCh38]
Chr13:52544628 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
| NM_000053.4(ATP7B):c.3061-11G>A |
single nucleotide variant |
Wilson disease [RCV005165231] |
Chr13:51944302 [GRCh38]
Chr13:52518438 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.1870-15C>T |
single nucleotide variant |
Wilson disease [RCV005073923] |
Chr13:51961928 [GRCh38]
Chr13:52536064 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2966T>G (p.Leu989Arg) |
single nucleotide variant |
Wilson disease [RCV005203184] |
Chr13:51946378 [GRCh38]
Chr13:52520514 [GRCh37]
Chr13:13q14.3 |
uncertain significance |
| NM_000053.4(ATP7B):c.2301C>G (p.Pro767=) |
single nucleotide variant |
Wilson disease [RCV005108491] |
Chr13:51958365 [GRCh38]
Chr13:52532501 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2112C>T (p.Thr704=) |
single nucleotide variant |
Wilson disease [RCV005202241] |
Chr13:51960157 [GRCh38]
Chr13:52534293 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3911_3944dup (p.Lys1315delinsAsnAlaGlyCysGlyGlyTer) |
duplication |
Wilson disease [RCV005127369] |
Chr13:51937352..51937353 [GRCh38]
Chr13:52511488..52511489 [GRCh37]
Chr13:13q14.3 |
pathogenic |
| NM_000053.4(ATP7B):c.1707+11T>C |
single nucleotide variant |
Wilson disease [RCV005127504] |
Chr13:51968433 [GRCh38]
Chr13:52542569 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2731-4A>G |
single nucleotide variant |
Wilson disease [RCV005108327] |
Chr13:51949800 [GRCh38]
Chr13:52523936 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2319C>T (p.Phe773=) |
single nucleotide variant |
Wilson disease [RCV005202681] |
Chr13:51958347 [GRCh38]
Chr13:52532483 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.2223T>C (p.Tyr741=) |
single nucleotide variant |
Wilson disease [RCV005125531] |
Chr13:51958443 [GRCh38]
Chr13:52532579 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3243+10C>G |
single nucleotide variant |
Wilson disease [RCV005182098] |
Chr13:51944099 [GRCh38]
Chr13:52518235 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.837T>C (p.Ile279=) |
single nucleotide variant |
Wilson disease [RCV005128071] |
Chr13:51974383 [GRCh38]
Chr13:52548519 [GRCh37]
Chr13:13q14.3 |
likely benign |
| NM_000053.4(ATP7B):c.3061-9_3061-1del |
deletion |
Wilson disease [RCV005129270] |
Chr13:51944292..51944300 [GRCh38]
Chr13:52518428..52518436 [GRCh37]
Chr13:13q14.3 |
likely pathogenic |
