Gene: RPE65 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752908
rs61752908
RPE65
T 0.800 GeneticVariation CLINVAR Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. 26427455

2016
dbSNP: rs61751282
rs61751282
RPE65
T 0.800 GeneticVariation CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931

2010
dbSNP: rs61751282
rs61751282
RPE65
T 0.800 GeneticVariation CLINVAR Predicting the pathogenicity of RPE65 mutations. 19431183

2009
dbSNP: rs61751282
rs61751282
RPE65
T 0.800 GeneticVariation CLINVAR Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. 18539930

2008
dbSNP: rs121917744
rs121917744
RPE65
T 0.800 CausalMutation CLINVAR Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65. 16828753

2006
dbSNP: rs61751282
rs61751282
RPE65
T 0.800 GeneticVariation CLINVAR Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. 16150724

2005
dbSNP: rs61752908
rs61752908
RPE65
T 0.800 GeneticVariation CLINVAR Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. 16150724

2005
dbSNP: rs61752908
rs61752908
RPE65
T 0.800 GeneticVariation CLINVAR Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. 16096063

2005
dbSNP: rs61751282
rs61751282
RPE65
T 0.800 GeneticVariation CLINVAR Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 15024725

2004
dbSNP: rs61751282
rs61751282
RPE65
T 0.800 GeneticVariation CLINVAR Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. 11462243

2001
dbSNP: rs61752896
rs61752896
RPE65
C 0.800 CausalMutation CLINVAR

dbSNP: rs62636300
rs62636300
RPE65
C 0.800 CausalMutation CLINVAR

dbSNP: rs62642584
rs62642584
RPE65
A 0.800 CausalMutation CLINVAR

dbSNP: rs121917745
rs121917745
RPE65
A 0.700 GeneticVariation CLINVAR Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. 29681726

2018
dbSNP: rs62642583
rs62642583
RPE65
G 0.700 CausalMutation CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551

2017
dbSNP: rs121917745
rs121917745
RPE65
A 0.700 GeneticVariation CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952

2016
dbSNP: rs121917745
rs121917745
RPE65
A 0.700 GeneticVariation CLINVAR RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. 25495949

2016
dbSNP: rs121917745
rs121917745
RPE65
A 0.700 GeneticVariation CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312

2016
dbSNP: rs281865520
rs281865520
RPE65
AT 0.700 CausalMutation CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952

2016
dbSNP: rs368088025
rs368088025
RPE65
A 0.700 CausalMutation CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312

2016
dbSNP: rs121917745
rs121917745
RPE65
A 0.700 GeneticVariation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820

2015
dbSNP: rs61751279
rs61751279
RPE65
A 0.700 CausalMutation CLINVAR Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. 26024124

2015
dbSNP: rs61752871
rs61752871
RPE65
A 0.700 CausalMutation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820

2015
dbSNP: rs61751279
rs61751279
RPE65
A 0.700 CausalMutation CLINVAR Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. 21911650

2012
dbSNP: rs61752871
rs61752871
RPE65
A 0.700 CausalMutation CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841

2011