Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs560952220
rs560952220
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: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015
dbSNP: rs560952220
rs560952220
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: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure. 24253677

2014
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease. 24003324

2013
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 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: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs560952220
rs560952220
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: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. 20333758

2010
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. 17823867

2007
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation BEFREE In conclusion, the data suggest that R778W and I1102T are most common mutations and provide the basis of genetic (PCR-RFLP) diagnostic tool for Indian WD patients as well as in siblings/parents where biochemical parameters are ambiguous. 17160357

2007
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients. 17160357

2007
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. 12885331

2003
dbSNP: rs560952220
rs560952220
ATP7B
0.810 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs560952220
rs560952220
ATP7B
G 0.810 CausalMutation CLINVAR Molecular diagnosis of Wilson disease. 11243728

2001