Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746485916
rs746485916
ATP7B
0.810 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: rs746485916
rs746485916
ATP7B
A 0.810 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: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients. 25982861

2015
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients. 25982861

2015
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation BEFREE Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients. 25982861

2015
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients. 25982861

2015
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations. 23333878

2013
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. 22677543

2012
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. 22677543

2012
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Clinical presentation and mutations in Danish patients with Wilson disease. 21610751

2011
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Clinical presentation and mutations in Danish patients with Wilson disease. 21610751

2011
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. 20931554

2010
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. 20931554

2010
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008