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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Basal Ganglia Diseases (D001480)
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Liver Diseases (D008107)
Parent Node: Metal Metabolism, Inborn Errors (D008664)
Parent Node: Movement Disorders (D009069)
..Starting node ..Hepatolenticular Degeneration (D006527)
Child Nodes:
........Copper-Overload Cirrhosis (C566858)
........Westphal disease (C536694)
Sister Nodes:
..Akathisia, Drug-Induced (D017109)
..Angelman Syndrome (D017204) 1
..Beta-Ureidopropionase Deficiency (C563210)
..Dyskinesias (D020820) 199
..Dystonic Disorders (D020821) 31
..Essential Tremor (D020329) 3
..Guanidinoacetate methyltransferase deficiency (C537622)
..Hepatolenticular Degeneration (D006527) 2
..Multiple System Atrophy (D019578) 21
..Non-lissencephalic cortical dysplasia (C536243)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Parkinsonian Disorders (D020734) 39
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Pronation-Supination Of The Forearm, Impairment Of (C566757)
..Supranuclear Palsy, Progressive (D013494) 5
..Telfer Sugar Jaeger syndrome (C536955)
..Tic Disorders (D013981) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5098

Name:

Hepatolenticular Degeneration

Definition:

A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

Alternative IDs:

OMIM:277900

ParentIDs:

TreeNumbers:

C06.552.413 |C10.228.140.079.493 |C10.228.140.163.100.360 |C10.228.662.400 |C10.574.500.487 |C16.320.400.361 |C16.320.565.189.360 |C16.320.565.618.403 |C18.452.132.100.360 |C18.452.648.189.360 |C18.452.648.618.403

Synonyms:

Slim Mappings:

Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D006527
MeSH: D006527
OMIM: 277900;

Genes: ATP7B;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003355	Aminoaciduria
3	HP:0200122	Atypical or prolonged hepatitis
4	HP:0000934	Chondrocalcinosis
5	HP:0001394	Cirrhosis
6	HP:0001259	Coma
7	HP:0000726	Dementia
8	HP:0002307	Drooling
9	HP:0001260	Dysarthria
10	HP:0002015	Dysphagia
11	HP:0001332	Dystonia
12	HP:0002040	Esophageal varix
13	HP:0003076	Glycosuria
14	HP:0001878	Hemolytic anemia
15	HP:0001399	Hepatic failure
16	HP:0001402	Hepatocellular carcinoma	HP:0040283
17	HP:0002240	Hepatomegaly
18	HP:0010838	High nonceruloplasmin-bound serum copper
19	HP:0002150	Hypercalciuria
20	HP:0003109	Hyperphosphaturia
21	HP:0000829	Hypoparathyroidism
22	HP:0001382	Joint hypermobility
23	HP:0200032	Kayser-Fleischer ring	HP:0040281
24	HP:0007327	Mixed demyelinating and axonal polyneuropathy
25	HP:0000787	Nephrolithiasis
26	HP:0002758	Osteoarthritis
27	HP:0002749	Osteomalacia
28	HP:0000939	Osteoporosis
29	HP:0000751	Personality changes
30	HP:0001271	Polyneuropathy	HP:0040283
31	HP:0002275	Poor motor coordination
32	HP:0000093	Proteinuria
33	HP:0000124	Renal tubular dysfunction
34	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000053.3(ATP7B):c.*16G>A	540	ATP7B	Uncertain significance	193922100	RCV000029383;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52508876	52508876	NM_000053.3:c.*16G>A		NC_000013.10:g.52508876C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.*15C>T	540	ATP7B	Uncertain significance	73498144	RCV000029382;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52508877	52508877	NM_000053.3:c.*15C>T		NC_000013.10:g.52508877G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4311G>A (p.Lys1437=)	540	ATP7B	Benign	73202048	RCV000029381; RCV000145285;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52508979	52508979	NM_000053.3:c.4311G>A	NP_000044.2:p.Lys1437=	NC_000013.10:g.52508979C>T	-	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4302G>A (p.Thr1434=)	540	ATP7B	Benign	116091486	RCV000029380;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52508988	52508988	NM_000053.3:c.4302G>A	NP_000044.2:p.Thr1434=	NC_000013.10:g.52508988C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met)	540	ATP7B	Likely pathogenic	60986317	RCV000029379;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52508989	52508989	NM_000053.3:c.4301C>T	NP_000044.2:p.Thr1434Met	NC_000013.10:g.52508989G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4135C>T (p.Pro1379Ser)	540	ATP7B	Likely pathogenic	181250704	RCV000145282;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52509155	52509155	NM_000053.3:c.4135C>T	NP_000044.2:p.Pro1379Ser	NC_000013.10:g.52509155G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4088C>T (p.Ser1363Phe)	540	ATP7B	Likely pathogenic	776848753	RCV000169268;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52509765	52509765	NM_000053.3:c.4088C>T	NP_000044.2:p.Ser1363Phe	NC_000013.10:g.52509765G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4058G>A (p.Trp1353Ter)	540	ATP7B	Likely pathogenic	193922110	RCV000029378;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52509795	52509795	NM_000053.3:c.4058G>A	NP_000044.2:p.Trp1353Ter	NC_000013.10:g.52509795C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4051C>T (p.Gln1351Ter)	540	ATP7B	Likely pathogenic	786204578	RCV000169321;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52509802	52509802	NM_000053.3:c.4051C>T	NP_000044.2:p.Gln1351Ter	NC_000013.10:g.52509802G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4039G>A (p.Gly1347Ser)	540	ATP7B	Likely pathogenic	587783318	RCV000145281;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52509814	52509814	NM_000053.3:c.4039G>A	NP_000044.2:p.Gly1347Ser	NC_000013.10:g.52509814C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.4021G>A (p.Gly1341Ser)	540	ATP7B	Pathogenic	587783317	RCV000145280;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511412	52511412	NM_000053.3:c.4021G>A	NP_000044.2:p.Gly1341Ser	NC_000013.10:g.52511412C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter)	540	ATP7B	Likely pathogenic;Pathogenic	193922109	RCV000029377;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511478	52511478	NM_000053.3:c.3955C>T	NP_000044.2:p.Arg1319Ter	NC_000013.10:g.52511478G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3903+6C>T	540	ATP7B	Benign	2282057	RCV000029376; RCV000078054;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52511606	52511606	NM_000053.3:c.3903+6C>T		NC_000013.10:g.52511606G>A	-	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3895C>T (p.Leu1299Phe)	540	ATP7B	Likely pathogenic	749472361	RCV000169572;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511620	52511620	NM_000053.3:c.3895C>T	NP_000044.2:p.Leu1299Phe	NC_000013.10:g.52511620G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3886G>A (p.Asp1296Asn)	540	ATP7B	Uncertain significance	199821556	RCV000148375;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511629	52511629	NM_000053.3:c.3886G>A	NP_000044.2:p.Asp1296Asn	NC_000013.10:g.52511629C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3818C>T (p.Pro1273Leu)	540	ATP7B	Likely pathogenic	758355520	RCV000169558;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511697	52511697	NM_000053.3:c.3818C>T	NP_000044.2:p.Pro1273Leu	NC_000013.10:g.52511697G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3809A>G (p.Asn1270Ser)	540	ATP7B	Pathogenic	121907990	RCV000004063; RCV000196058;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511706	52511706	NM_000053.3:c.3809A>G	NP_000044.2:p.Asn1270Ser	NC_000013.10:g.52511706T>C	OMIM Allelic Variant:606882.0003,OMIM Allelic Variant:606882.0017	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3809A>G (p.Asn1270Ser)	540	ATP7B	Pathogenic	121907990	RCV000004063; RCV000196058;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511706	52511706	NM_000053.3:c.3809A>G	NP_000044.2:p.Asn1270Ser	NC_000013.10:g.52511706T>C	OMIM Allelic Variant:606882.0003,OMIM Allelic Variant:606882.0017	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3796G>A (p.Gly1266Arg)	540	ATP7B	Pathogenic	121907992	RCV000004053;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511719	52511719	NM_000053.3:c.3796G>A	NP_000044.2:p.Gly1266Arg	NC_000013.10:g.52511719C>T	OMIM Allelic Variant:606882.0007	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3700G>T (p.Val1234Phe)	540	ATP7B	Likely pathogenic	193922108	RCV000029375;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52511815	52511815	NM_000053.3:c.3700G>T	NP_000044.2:p.Val1234Phe	NC_000013.10:g.52511815C>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3659C>T (p.Thr1220Met)	540	ATP7B	Likely pathogenic;Pathogenic	193922107	RCV000029374;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52513227	52513227	NM_000053.3:c.3659C>T	NP_000044.2:p.Thr1220Met	NC_000013.10:g.52513227G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3649_3654delGTTCTG (p.Val1217_Leu1218del)	540	ATP7B	Likely pathogenic	781266802	RCV000169402;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52513232	52513237	NM_000053.3:c.3649_3654delGTTCTG	NP_000044.2:p.Val1217_Leu1218del	NC_000013.10:g.52513232_52513237delCAGAAC	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3646G>A (p.Val1216Met)	540	ATP7B	Likely pathogenic	776280797	RCV000169211;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52513240	52513240	NM_000053.3:c.3646G>A	NP_000044.2:p.Val1216Met	NC_000013.10:g.52513240C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3620A>G (p.His1207Arg)	540	ATP7B	Benign;Pathogenic	7334118	RCV000029373; RCV000078052;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52513266	52513266	NM_000053.3:c.3620A>G	NP_000044.2:p.His1207Arg	NC_000013.10:g.52513266T>C	HGMD:CM994115	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3598C>T (p.Gln1200Ter)	540	ATP7B	Likely pathogenic	786204658	RCV000169453;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52513288	52513288	NM_000053.3:c.3598C>T	NP_000044.2:p.Gln1200Ter	NC_000013.10:g.52513288G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3588C>T (p.Asp1196=)	540	ATP7B	Benign	11840224	RCV000029372;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52513298	52513298	NM_000053.3:c.3588C>T	NP_000044.2:p.Asp1196=	NC_000013.10:g.52513298G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3557-6C>T	540	ATP7B	Benign	140708492	RCV000029371;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52513335	52513335	NM_000053.3:c.3557-6C>T		NC_000013.10:g.52513335G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3556+1G>A	540	ATP7B	Likely pathogenic	184388696	RCV000169452;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515216	52515216	NM_000053.3:c.3556+1G>A		NC_000013.10:g.52515216C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3556G>A (p.Gly1186Ser)	540	ATP7B	Likely pathogenic	786204547	RCV000169260;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515217	52515217	NM_000053.3:c.3556G>A	NP_000044.2:p.Gly1186Ser	NC_000013.10:g.52515217C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3552dupT (p.Asp1185Terfs)	540	ATP7B	Likely pathogenic	748924063	RCV000169520;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515221	52515221	NM_000053.3:c.3552dupT	NP_000044.2:p.Asp1185Terfs	NC_000013.10:g.52515221dupA	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3526G>A (p.Gly1176Arg)	540	ATP7B	Pathogenic	137853279	RCV000004067;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515247	52515247	NM_000053.3:c.3526G>A	NP_000044.2:p.Gly1176Arg	NC_000013.10:g.52515247C>A,NC_000013.10:g.52515247C>T	OMIM Allelic Variant:606882.0021	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3526G>T (p.Gly1176Ter)	540	ATP7B	not provided	137853279	RCV000144371;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515247	52515247	NM_000053.3:c.3526G>T	NP_000044.2:p.Gly1176Ter	NC_000013.10:g.52515247C>A,NC_000013.10:g.52515247C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3517G>A (p.Glu1173Lys)	540	ATP7B	Likely pathogenic	756029120	RCV000169445;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515256	52515256	NM_000053.3:c.3517G>A	NP_000044.2:p.Glu1173Lys	NC_000013.10:g.52515256C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3505A>G (p.Met1169Val)	540	ATP7B	Likely pathogenic	749085322	RCV000193725;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515268	52515268	NM_000053.3:c.3505A>G	NP_000044.2:p.Met1169Val	NC_000013.10:g.52515268T>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3489C>T (p.Ser1163=)	540	ATP7B	Likely benign	193922106	RCV000029370;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515284	52515284	NM_000053.3:c.3489C>T	NP_000044.2:p.Ser1163=	NC_000013.10:g.52515284G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3451C>T (p.Arg1151Cys)	540	ATP7B	Likely pathogenic	755554442	RCV000169188;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515322	52515322	NM_000053.3:c.3451C>T	NP_000044.2:p.Arg1151Cys	NC_000013.10:g.52515322G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3443T>C (p.Ile1148Thr)	540	ATP7B	Likely pathogenic;Pathogenic	60431989	RCV000004067; RCV000023582;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515330	52515330	NM_000053.3:c.3443T>C	NP_000044.2:p.Ile1148Thr	NC_000013.10:g.52515330A>G	OMIM Allelic Variant:606882.0021,OMIM Allelic Variant:606882.0025	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3443T>C (p.Ile1148Thr)	540	ATP7B	Likely pathogenic;Pathogenic	60431989	RCV000004067; RCV000023582;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52515330	52515330	NM_000053.3:c.3443T>C	NP_000044.2:p.Ile1148Thr	NC_000013.10:g.52515330A>G	OMIM Allelic Variant:606882.0021,OMIM Allelic Variant:606882.0025	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3419T>C (p.Val1140Ala)	540	ATP7B	Benign;Likely benign	1801249	RCV000029369; RCV000078051;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52515354	52515354	NM_000053.3:c.3419T>C	NP_000044.2:p.Val1140Ala	NC_000013.10:g.52515354A>G	HGMD:CM044579	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3402delC (p.Ala1135Glnfs)	540	ATP7B	Pathogenic	137853281	RCV000169026;	Y	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52516532	52516532	NM_000053.3:c.3402delC	NP_000044.2:p.Ala1135Glnfs	NC_000013.10:g.52516532delG	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3324C>T (p.Asn1108=)	540	ATP7B	Uncertain significance	372456815	RCV000145272;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52516610	52516610	NM_000053.3:c.3324C>T	NP_000044.2:p.Asn1108=	NC_000013.10:g.52516610G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3301G>A (p.Gly1101Arg)	540	ATP7B	Likely pathogenic	786204483	RCV000169142;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52516633	52516633	NM_000053.3:c.3301G>A	NP_000044.2:p.Gly1101Arg	NC_000013.10:g.52516633C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3263T>A (p.Leu1088Ter)	540	ATP7B	Likely pathogenic	753250853	RCV000169240;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52516671	52516671	NM_000053.3:c.3263T>A	NP_000044.2:p.Leu1088Ter	NC_000013.10:g.52516671A>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3244-2A>G	540	ATP7B	Likely pathogenic	786204584	RCV000169327;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52516692	52516692	NM_000053.3:c.3244-2A>G		NC_000013.10:g.52516692T>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln)	540	ATP7B	Pathogenic	76151636	RCV000004052; RCV000078049;	Y	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN221809	13	52518281	52518281	NM_000053.3:c.3207C>A	NP_000044.2:p.His1069Gln	NC_000013.10:g.52518281G>T	HGMD:CM930059,OMIM Allelic Variant:606882.0002,OMIM Allelic Variant:606882.0006	CN221809 not provided; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3101A>G (p.His1034Arg)	540	ATP7B	Likely pathogenic;Uncertain significance	74085882	RCV000029368;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52518387	52518387	NM_000053.3:c.3101A>G	NP_000044.2:p.His1034Arg	NC_000013.10:g.52518387T>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3060+16G>T	540	ATP7B	Benign;Likely benign	76163470	RCV000029367; RCV000174439;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52520404	52520404	NM_000053.3:c.3060+16G>T		NC_000013.10:g.52520404C>A	-	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3054G>A (p.Ala1018=)	540	ATP7B	Likely benign	193922105	RCV000029366;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520426	52520426	NM_000053.3:c.3054G>A	NP_000044.2:p.Ala1018=	NC_000013.10:g.52520426C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3053C>T (p.Ala1018Val)	540	ATP7B	Likely pathogenic	371840514	RCV000169019;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520427	52520427	NM_000053.3:c.3053C>T	NP_000044.2:p.Ala1018Val	NC_000013.10:g.52520427G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3045G>A (p.Leu1015=)	540	ATP7B	Benign	1801248	RCV000029365; RCV000145268;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52520435	52520435	NM_000053.3:c.3045G>A	NP_000044.2:p.Leu1015=	NC_000013.10:g.52520435C>T	-	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3015C>T (p.Asn1005=)	540	ATP7B	Likely benign	74085888	RCV000029364;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520465	52520465	NM_000053.3:c.3015C>T	NP_000044.2:p.Asn1005=	NC_000013.10:g.52520465G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3011A>C (p.Gln1004Pro)	540	ATP7B	Pathogenic	587783307	RCV000145267;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520469	52520469	NM_000053.3:c.3011A>C	NP_000044.2:p.Gln1004Pro	NC_000013.10:g.52520469T>G	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3009G>A (p.Ala1003=)	540	ATP7B	Benign	1801247	RCV000029363; RCV000078048;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52520471	52520471	NM_000053.3:c.3009G>A	NP_000044.2:p.Ala1003=	NC_000013.10:g.52520471C>T	-	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3008C>T (p.Ala1003Val)	540	ATP7B	Likely pathogenic	775055397	RCV000169109;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520472	52520472	NM_000053.3:c.3008C>T	NP_000044.2:p.Ala1003Val	NC_000013.10:g.52520472G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.3007G>A (p.Ala1003Thr)	540	ATP7B	Likely pathogenic	201497300	RCV000169133;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520473	52520473	NM_000053.3:c.3007G>A	NP_000044.2:p.Ala1003Thr	NC_000013.10:g.52520473C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2975C>T (p.Pro992Leu)	540	ATP7B	Pathogenic	201038679	RCV000169179;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520505	52520505	NM_000053.3:c.2975C>T	NP_000044.2:p.Pro992Leu	NC_000013.10:g.52520505G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2973G>A (p.Thr991=)	540	ATP7B	Benign	1801246	RCV000029362; RCV000078047;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52520507	52520507	NM_000053.3:c.2973G>A	NP_000044.2:p.Thr991=	NC_000013.10:g.52520507C>T	-	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met)	540	ATP7B	Likely pathogenic	41292782	RCV000029361;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520508	52520508	NM_000053.3:c.2972C>T	NP_000044.2:p.Thr991Met	NC_000013.10:g.52520508G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2953T>C (p.Cys985Arg)	540	ATP7B	Likely pathogenic	193922104	RCV000029360;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520527	52520527	NM_000053.3:c.2953T>C	NP_000044.2:p.Cys985Arg	NC_000013.10:g.52520527A>G	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2950C>G (p.Pro984Ala)	540	ATP7B	Pathogenic	863224848	RCV000196058;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520530	52520530	NM_000053.3:c.2950C>G	NP_000044.2:p.Pro984Ala	NC_000013.10:g.52520530G>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2930C>T (p.Thr977Met)	540	ATP7B	Pathogenic	72552255	RCV000029359; RCV000078046;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN221809	13	52520550	52520550	NM_000053.3:c.2930C>T	NP_000044.2:p.Thr977Met	NC_000013.10:g.52520550G>A	HGMD:CM960129	CN221809 not provided; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2906G>A (p.Arg969Gln)	540	ATP7B	Pathogenic	121907996	RCV000004064;	Y	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52520574	52520574	NM_000053.3:c.2906G>A	NP_000044.2:p.Arg969Gln	NC_000013.10:g.52520574C>T	OMIM Allelic Variant:606882.0018	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2866-13G>C	540	ATP7B	Benign	7325983	RCV000029358; RCV000078045;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52520627	52520627	NM_000053.3:c.2866-13G>C		NC_000013.10:g.52520627C>G	-	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2865+1G>A	540	ATP7B	Pathogenic	587783306	RCV000145266;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52523797	52523797	NM_000053.3:c.2865+1G>A		NC_000013.10:g.52523797C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2855G>A (p.Arg952Lys)	540	ATP7B	Benign;Likely benign	732774	RCV000029357; RCV000078044;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52523808	52523808	NM_000053.3:c.2855G>A	NP_000044.2:p.Arg952Lys	NC_000013.10:g.52523808C>T	HGMD:CM127927	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2828G>A (p.Gly943Asp)	540	ATP7B	Likely pathogenic	779323689	RCV000169455;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52523835	52523835	NM_000053.3:c.2828G>A	NP_000044.2:p.Gly943Asp	NC_000013.10:g.52523835C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2827G>A (p.Gly943Ser)	540	ATP7B	Pathogenic	28942076	RCV000004060;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52523836	52523836	NM_000053.3:c.2827G>A	NP_000044.2:p.Gly943Ser	NC_000013.10:g.52523836C>T	OMIM Allelic Variant:606882.0013	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2804C>T (p.Thr935Met)	540	ATP7B	Likely pathogenic	750019452	RCV000169002;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52523859	52523859	NM_000053.3:c.2804C>T	NP_000044.2:p.Thr935Met	NC_000013.10:g.52523859G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2755C>G (p.Arg919Gly)	540	ATP7B	Likely pathogenic;Pathogenic	121907993	RCV000004061;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52523908	52523908	NM_000053.3:c.2755C>G	NP_000044.2:p.Arg919Gly	NC_000013.10:g.52523908G>C	OMIM Allelic Variant:606882.0014	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2731-2A>G	540	ATP7B	Likely pathogenic	367956522	RCV000169025;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52523934	52523934	NM_000053.3:c.2731-2A>G		NC_000013.10:g.52523934T>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2668G>A (p.Val890Met)	540	ATP7B	Likely pathogenic	786204718	RCV000169535;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52524205	52524205	NM_000053.3:c.2668G>A	NP_000044.2:p.Val890Met	NC_000013.10:g.52524205C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2621C>T (p.Ala874Val)	540	ATP7B	Pathogenic	121907994	RCV000004055;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52524252	52524252	NM_000053.3:c.2621C>T	NP_000044.2:p.Ala874Val	NC_000013.10:g.52524252G>A	OMIM Allelic Variant:606882.0016	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg)	540	ATP7B	Pathogenic	191312027	RCV000145263;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52524268	52524268	NM_000053.3:c.2605G>A	NP_000044.2:p.Gly869Arg	NC_000013.10:g.52524268C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2575+1G>C	540	ATP7B	Likely pathogenic	766149114	RCV000169063;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52524407	52524407	NM_000053.3:c.2575+1G>C		NC_000013.10:g.52524407C>G	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2532delA (p.Val845Serfs)	540	ATP7B	Pathogenic	755709270	RCV000169237;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52524451	52524451	NM_000053.3:c.2532delA	NP_000044.2:p.Val845Serfs	NC_000013.10:g.52524451delT	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2519C>T (p.Pro840Leu)	540	ATP7B	Likely pathogenic	768671894	RCV000169233;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52524464	52524464	NM_000053.3:c.2519C>T	NP_000044.2:p.Pro840Leu	NC_000013.10:g.52524464G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2513delA (p.Lys838Serfs)	540	ATP7B	Likely pathogenic	777362050	RCV000169035;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52524470	52524470	NM_000053.3:c.2513delA	NP_000044.2:p.Lys838Serfs	NC_000013.10:g.52524470delT	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2495A>G (p.Lys832Arg)	540	ATP7B	Benign	1061472	RCV000029356; RCV000078043;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52524488	52524488	NM_000053.3:c.2495A>G	NP_000044.2:p.Lys832Arg	NC_000013.10:g.52524488T>C	HGMD:CM116966	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2383C>T (p.Leu795Phe)	540	ATP7B	Likely pathogenic	751710854	RCV000169151;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52531716	52531716	NM_000053.3:c.2383C>T	NP_000044.2:p.Leu795Phe	NC_000013.10:g.52531716G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2337G>A (p.Trp779Ter)	540	ATP7B	not provided	137853282	RCV000144369;	Y	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532465	52532465	NM_000053.3:c.2337G>A	NP_000044.2:p.Trp779Ter	NC_000013.10:g.52532465C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2336G>A (p.Trp779Ter)	540	ATP7B	Pathogenic	137853283	RCV000144368;	Y	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532466	52532466	NM_000053.3:c.2336G>A	NP_000044.2:p.Trp779Ter	NC_000013.10:g.52532466C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2333G>T (p.Arg778Leu)	540	ATP7B	Pathogenic	28942074	RCV000004056;	Y	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532469	52532469	NM_000053.3:c.2333G>T	NP_000044.2:p.Arg778Leu	NC_000013.10:g.52532469C>A	OMIM Allelic Variant:606882.0009	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2332C>G (p.Arg778Gly)	540	ATP7B	Likely pathogenic	137853284	RCV000144367;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532470	52532470	NM_000053.3:c.2332C>G	NP_000044.2:p.Arg778Gly	NC_000013.10:g.52532470G>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2305A>G (p.Met769Val)	540	ATP7B	Benign;Pathogenic	193922103	RCV000029355; RCV000078041; RCV000145261;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374; MedGen:CN221809	13	52532497	52532497	NM_000053.3:c.2305A>G	NP_000044.2:p.Met769Val	NC_000013.10:g.52532497T>C	HGMD:CM992596	CN221809 not provided; CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2299dupC (p.Met769Hisfs)	540	ATP7B	not provided	137853287	RCV000144366;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532503	52532503	NM_000053.3:c.2299dupC	NP_000044.2:p.Met769Hisfs	NC_000013.10:g.52532503dupG	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2297C>G (p.Thr766Arg)	540	ATP7B	Pathogenic	121907997	RCV000004065;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532505	52532505	NM_000053.3:c.2297C>G	NP_000044.2:p.Thr766Arg	NC_000013.10:g.52532505G>C	OMIM Allelic Variant:606882.0019	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2293G>A (p.Asp765Asn)	540	ATP7B	Likely pathogenic;Pathogenic	28942075	RCV000004059;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532509	52532509	NM_000053.3:c.2293G>A	NP_000044.2:p.Asp765Asn	NC_000013.10:g.52532509C>T	OMIM Allelic Variant:606882.0012	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2165dupT (p.Arg723Glufs)	540	ATP7B	Pathogenic	768729972	RCV000194439;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532637	52532637	NM_000053.3:c.2165dupT	NP_000044.2:p.Arg723Glufs	NC_000013.10:g.52532637dupA	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2128G>A (p.Gly710Ser)	540	ATP7B	Pathogenic	137853285	RCV000144365;	Y	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532674	52532674	NM_000053.3:c.2128G>A	NP_000044.2:p.Gly710Ser	NC_000013.10:g.52532674C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2123T>C (p.Leu708Pro)	540	ATP7B	Pathogenic	121908000	RCV000004069;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532679	52532679	NM_000053.3:c.2123T>C	NP_000044.2:p.Leu708Pro	NC_000013.10:g.52532679A>G	OMIM Allelic Variant:606882.0023	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2122-8T>G	540	ATP7B	Likely pathogenic;Pathogenic	193922102	RCV000029354;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52532688	52532688	NM_000053.3:c.2122-8T>G		NC_000013.10:g.52532688A>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2071G>A (p.Gly691Arg)	540	ATP7B	Likely pathogenic;Pathogenic	121908001	RCV000004070;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52534334	52534334	NM_000053.3:c.2071G>A	NP_000044.2:p.Gly691Arg	NC_000013.10:g.52534334C>T	OMIM Allelic Variant:606882.0024	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2035delC (p.His679Thrfs)	540	ATP7B	Likely pathogenic	786204764	RCV000169628;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52534370	52534370	NM_000053.3:c.2035delC	NP_000044.2:p.His679Thrfs	NC_000013.10:g.52534370delG	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2009_2015delATATGCT (p.Tyr670Terfs)	540	ATP7B	Likely pathogenic	779904655	RCV000169214;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52534390	52534396	NM_000053.3:c.2009_2015delATATGCT	NP_000044.2:p.Tyr670Terfs	NC_000013.10:g.52534390_52534396delAGCATAT	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.2002A>G (p.Met668Val)	540	ATP7B	Uncertain significance	587783301	RCV000145257;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52534403	52534403	NM_000053.3:c.2002A>G	NP_000044.2:p.Met668Val	NC_000013.10:g.52534403T>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile)	540	ATP7B	Uncertain significance	72552259	RCV000145256;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52534410	52534410	NM_000053.3:c.1995G>A	NP_000044.2:p.Met665Ile	NC_000013.10:g.52534410C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1969A>C (p.Ser657Arg)	540	ATP7B	Pathogenic	372436901	RCV000145255;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52534436	52534436	NM_000053.3:c.1969A>C	NP_000044.2:p.Ser657Arg	NC_000013.10:g.52534436T>G	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg)	540	ATP7B	Pathogenic	121907998	RCV000004066;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52535985	52535985	NM_000053.3:c.1934T>G	NP_000044.2:p.Met645Arg	NC_000013.10:g.52535985A>C	OMIM Allelic Variant:606882.0020	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1924G>C (p.Asp642His)	540	ATP7B	Likely pathogenic	72552285	RCV000169521;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52535995	52535995	NM_000053.3:c.1924G>C	NP_000044.2:p.Asp642His	NC_000013.10:g.52535995C>G	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1877G>C (p.Gly626Ala)	540	ATP7B	Likely pathogenic;Pathogenic	587783299	RCV000145253;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52536042	52536042	NM_000053.3:c.1877G>C	NP_000044.2:p.Gly626Ala	NC_000013.10:g.52536042C>G	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1782delT (p.Tyr594Terfs)	540	ATP7B	Likely pathogenic	780327716	RCV000169497;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52539095	52539095	NM_000053.3:c.1782delT	NP_000044.2:p.Tyr594Terfs	NC_000013.10:g.52539095delA	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1772G>A (p.Gly591Asp)	540	ATP7B	Likely pathogenic	797045402	RCV000193403;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52539105	52539105	NM_000053.3:c.1772G>A	NP_000044.2:p.Gly591Asp	NC_000013.10:g.52539105C>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1745_1746delTA (p.Ile582Argfs)	540	ATP7B	Likely pathogenic	753962912	RCV000169524;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52539131	52539132	NM_000053.3:c.1745_1746delTA	NP_000044.2:p.Ile582Argfs	NC_000013.10:g.52539131_52539132delTA	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1708-1G>C	540	ATP7B	Likely pathogenic;Pathogenic	137853280	RCV000004054;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52539170	52539170	NM_000053.3:c.1708-1G>C		NC_000013.10:g.52539170C>G	OMIM Allelic Variant:606882.0008	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1707+9T>C	540	ATP7B	Benign	114449708	RCV000029353;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52542571	52542571	NM_000053.3:c.1707+9T>C		NC_000013.10:g.52542571A>G	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala)	540	ATP7B	Likely pathogenic;Uncertain significance	138427376	RCV000029352;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52542680	52542680	NM_000053.3:c.1607T>C	NP_000044.2:p.Val536Ala	NC_000013.10:g.52542680A>G	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1366G>C (p.Val456Leu)	540	ATP7B	Benign	1801244	RCV000029351; RCV000078039;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52544805	52544805	NM_000053.3:c.1366G>C	NP_000044.2:p.Val456Leu	NC_000013.10:g.52544805C>G	-	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1285+2T>A	540	ATP7B	Likely pathogenic	759749626	RCV000169532;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52548069	52548069	NM_000053.3:c.1285+2T>A		NC_000013.10:g.52548069A>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.1216T>G (p.Ser406Ala)	540	ATP7B	Benign	1801243	RCV000029350; RCV000078038;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN169374	13	52548140	52548140	NM_000053.3:c.1216T>G	NP_000044.2:p.Ser406Ala	NC_000013.10:g.52548140A>C	HGMD:CM129458	CN169374 not specified; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.915T>A (p.Cys305Ter)	540	ATP7B	Pathogenic	398123137	RCV000175511; RCV000078056;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN221809	13	52548441	52548441	NM_000053.3:c.915T>A	NP_000044.2:p.Cys305Ter	NC_000013.10:g.52548441A>T	HGMD:CM980165	CN221809 not provided; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.865C>T (p.Gln289Ter)	540	ATP7B	Likely pathogenic;Pathogenic	121907999	RCV000004068;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52548491	52548491	NM_000053.3:c.865C>T	NP_000044.2:p.Gln289Ter	NC_000013.10:g.52548491G>A	OMIM Allelic Variant:606882.0022	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.845delT (p.Leu282Profs)	540	ATP7B	Pathogenic	193922111	RCV000029384;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52548511	52548511	NM_000053.3:c.845delT	NP_000044.2:p.Leu282Profs	NC_000013.10:g.52548511delA	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.813C>A (p.Cys271Ter)	540	ATP7B	Pathogenic	572147914	RCV000169298;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52548543	52548543	NM_000053.3:c.813C>A	NP_000044.2:p.Cys271Ter	NC_000013.10:g.52548543G>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.778dupC (p.Gln260Profs)	540	ATP7B	Likely pathogenic	786204570	RCV000169312;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52548578	52548578	NM_000053.3:c.778dupC	NP_000044.2:p.Gln260Profs	NC_000013.10:g.52548578dupG	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.524_525delAA (p.Lys175Serfs)	540	ATP7B	Likely pathogenic	558037268	RCV000169375;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52548831	52548832	NM_000053.3:c.524_525delAA	NP_000044.2:p.Lys175Serfs	NC_000013.10:g.52548831_52548832delTT	-	C0019202 277900 Wilson's disease
NM_001243182.1(ATP7B):c.383delG (p.Gly128Glufs)	540	ATP7B	Pathogenic	797045083	RCV000190567;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52548973	52548973	NM_001243182.1:c.383delG	NP_001230111.1:p.Gly128Glufs	NC_000013.10:g.52548973delC	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.331C>T (p.Gln111Ter)	540	ATP7B	Likely pathogenic	774221179	RCV000169259;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52549025	52549025	NM_000053.3:c.331C>T	NP_000044.2:p.Gln111Ter	NC_000013.10:g.52549025G>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.314C>A (p.Ser105Ter)	540	ATP7B	Likely pathogenic	753236073	RCV000169629;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52549042	52549042	NM_000053.3:c.314C>A	NP_000044.2:p.Ser105Ter	NC_000013.10:g.52549042G>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.254G>T (p.Gly85Val)	540	ATP7B	Likely pathogenic	786204643	RCV000169428;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52549102	52549102	NM_000053.3:c.254G>T	NP_000044.2:p.Gly85Val	NC_000013.10:g.52549102C>A	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.122A>G (p.Asn41Ser)	540	ATP7B	Pathogenic	201738967	RCV000145251;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52549234	52549234	NM_000053.3:c.122A>G	NP_000044.2:p.Asn41Ser	NC_000013.10:g.52549234T>C	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.98T>C (p.Met33Thr)	540	ATP7B	Likely pathogenic;Uncertain significance	184868522	RCV000029385; RCV000175512;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009; MedGen:CN221809	13	52549258	52549258	NM_000053.3:c.98T>C	NP_000044.2:p.Met33Thr	NC_000013.10:g.52549258A>G	-	CN221809 not provided; C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.-74C>A	540	ATP7B	Uncertain significance	193922101	RCV000029349;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52585547	52585547	NM_000053.3:c.-74C>A		NC_000013.10:g.52585547G>T	-	C0019202 277900 Wilson's disease
NM_000053.3(ATP7B):c.-123_-119dupCGCCG	540	ATP7B	Uncertain significance	148013251	RCV000029348;	N	MedGen:C0019202,OMIM:277900,ORPHA:905,SNOMED CT:88518009	13	52585592	52585596	NM_000053.3:c.-123_-119dupCGCCG		NC_000013.10:g.52585592_52585596dupCGGCG	-	C0019202 277900 Wilson's disease