Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907993
rs121907993
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: rs121907993
rs121907993
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: rs121907993
rs121907993
ATP7B
C 0.800 CausalMutation CLINVAR Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China. 25704634

2015
dbSNP: rs121907993
rs121907993
ATP7B
C 0.800 CausalMutation CLINVAR Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion. 26032686

2015
dbSNP: rs121907993
rs121907993
ATP7B
A 0.800 GeneticVariation CLINVAR Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations. 25089800

2014
dbSNP: rs121907993
rs121907993
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs121907993
rs121907993
ATP7B
A 0.800 GeneticVariation CLINVAR In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure. 24253677

2014
dbSNP: rs121907993
rs121907993
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: rs121907993
rs121907993
ATP7B
A 0.800 GeneticVariation CLINVAR A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs121907993
rs121907993
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs121907993
rs121907993
ATP7B
C 0.800 CausalMutation CLINVAR Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs121907993
rs121907993
ATP7B
A 0.800 GeneticVariation CLINVAR Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations. 23333878

2013
dbSNP: rs121907993
rs121907993
ATP7B
C 0.800 CausalMutation CLINVAR Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease. 23275100

2013
dbSNP: rs121907993
rs121907993
ATP7B
A 0.800 GeneticVariation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs121907993
rs121907993
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs121907993
rs121907993
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs121907993
rs121907993
ATP7B
A 0.800 GeneticVariation CLINVAR Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs121907993
rs121907993
ATP7B
A 0.800 GeneticVariation CLINVAR Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families. 23219664

2013
dbSNP: rs121907993
rs121907993
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: rs121907993
rs121907993
ATP7B
C 0.800 CausalMutation CLINVAR Fatty liver and anti-oxidant enzyme activities along with peroxisome proliferator-activated receptors γ and α expressions in the liver of Wilson's disease. 22940187

2012
dbSNP: rs121907993
rs121907993
ATP7B
A 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: rs121907993
rs121907993
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs121907993
rs121907993
ATP7B
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs121907993
rs121907993
ATP7B
C 0.800 CausalMutation CLINVAR Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. 21796144

2011
dbSNP: rs121907993
rs121907993
ATP7B
C 0.800 CausalMutation CLINVAR Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. 20931554

2010