Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS. 31010795

2020

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene. 31783295

2019

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE In this study, we generated ATP7B site-directed point mutation rabbits to simulate a major mutation type in Asians (p. Arg778Leu) with Wilson disease (WD) by using the CRISPR/Cas9 system combined with single-strand DNA oligonucleotides (ssODNs). 29358698

2018

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA. 30558096

2018

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 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: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. 27982432

2017

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR [Mutation analysis of 35 Wilson's disease pedigrees]. 26829729

2016

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11. 25988284

2016

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 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: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Mutational analysis of ATP7B in Chinese Wilson disease patients. 27398169

2016

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations. 27706781

2016

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion. 26032686

2015

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Identification and characterization of a novel splice-site mutation in the Wilson disease gene. 25086856

2014

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis. 24878384

2014

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725

2014

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis. 24878384

2014

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 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