Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853285
rs137853285
ATP7B
0.800 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: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Mutational analysis of ATP7B in Chinese Wilson disease patients. 27398169

2016
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations. 23333878

2013
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Diverse functional properties of Wilson disease ATP7B variants. 22240481

2012
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Hepatocyte GP73 expression in Wilson disease. 19596473

2009
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Late-onset Wilson's disease. 17433323

2007
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. 16133174

2005
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Wilson's Disease. 16233999

2005
dbSNP: rs137853285
rs137853285
ATP7B
T 0.800 CausalMutation CLINVAR Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. 12557139

2003
dbSNP: rs137853285
rs137853285
ATP7B
0.800 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002