Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity. 24897373

2014

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. 24909901

2014

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Diverse functional properties of Wilson disease ATP7B variants. 22240481

2012

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Among asymptomatic first degree relatives of patients with WD (12 siblings, 25 parents) there were 40.5% cases heterozygous for H1069Q. 22720308

2012

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR In women, APOE ε4-positive genotype is associated with earlier onset of WD symptoms, particularly among ATP7B p.H1069Q homozygous patients. 22221592

2012

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report. 22286624

2011

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. 19937698

2009

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Late onset Wilson's disease: therapeutic implications. 18311837

2008

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR The H1069Q point mutation is frequent in Hungarian patients with WD and appears to have originated from a single founder in Eastern Europe. 11857545

2002

dbSNP: rs76151636
rs76151636
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Thirty-two (39%) Wilson disease patients were homozygous and 39 (48%) heterozygous for the H1069Q mutation (allele frequency 63%). 11690702

2001