Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767078782
rs767078782
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 28981474

2017
dbSNP: rs767078782
rs767078782
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. 29196752

2017
dbSNP: rs767078782
rs767078782
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017
dbSNP: rs767078782
rs767078782
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. 26766544

2016
dbSNP: rs767078782
rs767078782
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs767078782
rs767078782
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 25558175

2014
dbSNP: rs767078782
rs767078782
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. 25333064

2014
dbSNP: rs767078782
rs767078782
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012