Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374094065
rs374094065
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: rs374094065
rs374094065
ATP7B
G 0.800 CausalMutation CLINVAR Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease. 26483271

2016
dbSNP: rs374094065
rs374094065
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: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs374094065
rs374094065
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: rs374094065
rs374094065
ATP7B
G 0.800 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 GeneticVariation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 GeneticVariation CLINVAR A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. 22692182

2012
dbSNP: rs374094065
rs374094065
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: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 CausalMutation CLINVAR Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B. 21398519

2011
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 GeneticVariation CLINVAR Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B. 21398519

2011
dbSNP: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs374094065
rs374094065
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: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 CausalMutation CLINVAR Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 17717039

2007
dbSNP: rs374094065
rs374094065
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 CausalMutation CLINVAR Wilson disease in septuagenarian siblings: Raising the bar for diagnosis. 15723329

2005
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 GeneticVariation CLINVAR Wilson Disease--keeping the bar for diagnosis raised. 16175588

2005
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 CausalMutation CLINVAR Wilson Disease--keeping the bar for diagnosis raised. 16175588

2005
dbSNP: rs374094065
rs374094065
ATP7B
G 0.800 GeneticVariation CLINVAR Wilson disease in septuagenarian siblings: Raising the bar for diagnosis. 15723329

2005