Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201038679
rs201038679
ATP7B
0.820 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: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation BEFREE However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations. 27706781

2016
dbSNP: rs201038679
rs201038679
ATP7B
A 0.820 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: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs201038679
rs201038679
ATP7B
A 0.820 CausalMutation CLINVAR Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease. 23843956

2013
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation BEFREE The most frequent ATP7B mutation was c.2333 G>T (p.Arg778Leu), followed by c.2975 C>T (p.Pro992Leu), which accounted for 63.6% of the WND mutated alleles. 23275100

2013
dbSNP: rs201038679
rs201038679
ATP7B
A 0.820 CausalMutation CLINVAR Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs201038679
rs201038679
ATP7B
A 0.820 CausalMutation CLINVAR Diverse functional properties of Wilson disease ATP7B variants. 22240481

2012
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs201038679
rs201038679
ATP7B
A 0.820 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: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs201038679
rs201038679
ATP7B
A 0.820 CausalMutation CLINVAR Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. 17717039

2007
dbSNP: rs201038679
rs201038679
ATP7B
A 0.820 CausalMutation CLINVAR Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. 16649058

2006
dbSNP: rs201038679
rs201038679
ATP7B
A 0.820 CausalMutation CLINVAR Mutation analysis of Taiwanese Wilson disease patients. 16696937

2006
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs201038679
rs201038679
ATP7B
0.820 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002