List of variants reported as likely pathogenic for Wilson disease by Baylor Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00025
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00014
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)	rs200728096	0.00011
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	rs762866453	0.00009
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)	rs539585071	0.00006
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	rs541208827	0.00005
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)	rs760713333	0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)	rs756237962	0.00004
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	rs371840514	0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	rs568009639	0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)	rs749626601	0.00002
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)	rs374172791	0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)	rs769927137	0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	rs121907997	0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)	rs777629392	0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	rs786204643	0.00001
NM_000053.4(ATP7B):c.3060+5G>T	rs1353373400	0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	rs1412025509	0.00001
NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu)	rs1957397703	0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	rs767464491	0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	rs1555282316	0.00001
NM_000053.4(ATP7B):c.51+4A>T	rs369488210	0.00001
NM_000053.4(ATP7B):c.52-1G>T	rs1057517351	0.00001
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs)	rs1316032472
NM_000053.4(ATP7B):c.1155_1156del (p.Val387fs)
NM_000053.4(ATP7B):c.132del (p.Gly43_Tyr44insTer)
NM_000053.4(ATP7B):c.1360dup (p.Thr454fs)
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)	rs1060499593
NM_000053.4(ATP7B):c.1543+1G>A
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)	rs572122562
NM_000053.4(ATP7B):c.1675dup (p.Tyr559fs)
NM_000053.4(ATP7B):c.1781_1797del (p.Tyr594fs)
NM_000053.4(ATP7B):c.1908dup (p.Asn637fs)
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)	rs72552285
NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter)
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)	rs1555291870
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)	rs1212479289
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
NM_000053.4(ATP7B):c.2121+1G>A	rs751235573
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)	rs1555291285
NM_000053.4(ATP7B):c.2152del (p.Ala718fs)
NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs)
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)	rs766907687
NM_000053.4(ATP7B):c.2286dup (p.Phe763fs)
NM_000053.4(ATP7B):c.2307G>T (p.Met769Ile)
NM_000053.4(ATP7B):c.2355+1G>A
NM_000053.4(ATP7B):c.2447+5G>T
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)	rs2139201690
NM_000053.4(ATP7B):c.2730+2T>A	rs2139201007
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	rs121907993
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)	rs1555288385
NM_000053.4(ATP7B):c.2866-2del	rs1593681941
NM_000053.4(ATP7B):c.291dup (p.Ala98fs)
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	rs199623434
NM_000053.4(ATP7B):c.2976del (p.Thr993fs)
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)	rs747584649
NM_000053.4(ATP7B):c.3044T>C (p.Leu1015Pro)
NM_000053.4(ATP7B):c.306T>A (p.Tyr102Ter)
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)	rs778543794
NM_000053.4(ATP7B):c.3200G>A (p.Ser1067Asn)
NM_000053.4(ATP7B):c.3258_3259del (p.Glu1086fs)
NM_000053.4(ATP7B):c.3437_3438del (p.Val1146fs)
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)	rs377297166
NM_000053.4(ATP7B):c.3524_3528del (p.Lys1175fs)
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	rs1057516479
NM_000053.4(ATP7B):c.3543_3551delinsTCTGC (p.Val1182fs)
NM_000053.4(ATP7B):c.3545dup (p.Ala1183fs)
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)
NM_000053.4(ATP7B):c.365_366delinsGGGCTTCGAA (p.Glu122fs)
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	rs886042519
NM_000053.4(ATP7B):c.3665del (p.Asp1222fs)
NM_000053.4(ATP7B):c.3704G>A (p.Gly1235Asp)
NM_000053.4(ATP7B):c.3707del (p.Ile1236fs)
NM_000053.4(ATP7B):c.3772_3775dup (p.Gly1259fs)
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)	rs1375884723
NM_000053.4(ATP7B):c.3904-2del	rs1957032734
NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)
NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)	rs587783317
NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)	rs1444841250
NM_000053.4(ATP7B):c.4124+1G>A
NM_000053.4(ATP7B):c.4124+1G>T
NM_000053.4(ATP7B):c.4125-2A>G	rs1555282347
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)	rs2138407151
NM_000053.4(ATP7B):c.4198del (p.Val1400fs)
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	rs1555282191
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)	rs1345677703
NM_000053.4(ATP7B):c.52-2A>G
NM_000053.4(ATP7B):c.528del (p.Ser177fs)	rs2140098691
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter)	rs1555296414
NM_000053.4(ATP7B):c.763dup (p.His255fs)
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)	rs1952004098
NM_000053.4(ATP7B):c.839del (p.Gly280fs)
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
NM_000053.4(ATP7B):c.881del (p.Asn294fs)
NM_000053.4(ATP7B):c.956del (p.Pro319fs)	rs753674382

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