Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552255
rs72552255
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: rs72552255
rs72552255
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: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs72552255
rs72552255
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: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure. 24253677

2014
dbSNP: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. 23551039

2013
dbSNP: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs72552255
rs72552255
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: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation 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: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family. 22774841

2012
dbSNP: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR Clinical presentation and mutations in Danish patients with Wilson disease. 21610751

2011
dbSNP: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients. 21682854

2011
dbSNP: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010
dbSNP: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. 18483695

2008
dbSNP: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs72552255
rs72552255
ATP7B
A 0.800 CausalMutation CLINVAR Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease. 17272994

2007
dbSNP: rs72552255
rs72552255
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: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs72552255
rs72552255
ATP7B
0.800 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002