Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756029120
rs756029120
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: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs756029120
rs756029120
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: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Wilson disease in the South chinese han population. 24718822

2014
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs756029120
rs756029120
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: rs756029120
rs756029120
ATP7B
T 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: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease. 23275100

2013
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease. 23843956

2013
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease. 23843956

2013
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs756029120
rs756029120
ATP7B
T 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: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs756029120
rs756029120
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: rs756029120
rs756029120
ATP7B
T 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: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. 20333758

2010
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 18034201

2008
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. 18034201

2008
dbSNP: rs756029120
rs756029120
ATP7B
0.800 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 GeneticVariation CLINVAR Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene. 17317524

2007
dbSNP: rs756029120
rs756029120
ATP7B
T 0.800 CausalMutation CLINVAR Sequence variation database for the Wilson disease copper transporter, ATP7B. 17680703

2007