Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Twelve of 13 (92.3%) WD patients had the c.3207C>A (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C>T (p.R1041W) or unknown mutations. 18855987

2008
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
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
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 Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
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
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 EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 CausalMutation CLINVAR Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. 18203200

2008
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
0.810 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996
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 Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs746485916
rs746485916
ATP7B
A 0.810 GeneticVariation CLINVAR Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. 15024742

2004
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 Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
dbSNP: rs746485916
rs746485916
ATP7B
0.810 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
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 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 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 CausalMutation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
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
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 Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999