Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917744
rs121917744
RPE65
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		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: rs121917745
rs121917745
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. 29681726

2018
dbSNP: rs121917745
rs121917745
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952

2016
dbSNP: rs121917745
rs121917745
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. 25495949

2016
dbSNP: rs121917745
rs121917745
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312

2016
dbSNP: rs121917745
rs121917745
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820

2015
dbSNP: rs121917745
rs121917745
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 15557452

2004
dbSNP: rs121917745
rs121917745
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR

dbSNP: rs61751282
rs61751282
RPE65
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		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
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		T 0.800 GeneticVariation CLINVAR Predicting the pathogenicity of RPE65 mutations. 19431183

2009
dbSNP: rs61751282
rs61751282
RPE65
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		T 0.800 GeneticVariation CLINVAR Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. 18539930

2008
dbSNP: rs61751282
rs61751282
RPE65
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		T 0.800 GeneticVariation CLINVAR Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. 16150724

2005
dbSNP: rs61751282
rs61751282
RPE65
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		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
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		T 0.800 GeneticVariation CLINVAR Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. 11462243

2001
dbSNP: rs61752871
rs61752871
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820

2015
dbSNP: rs61752871
rs61752871
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841

2011
dbSNP: rs61752871
rs61752871
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. 19117922

2009
dbSNP: rs61752871
rs61752871
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR Predicting the pathogenicity of RPE65 mutations. 19431183

2009
dbSNP: rs61752871
rs61752871
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR Molecular characterization of Leber congenital amaurosis in Koreans. 18682808

2008
dbSNP: rs61752871
rs61752871
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. 16754667

2006
dbSNP: rs61752871
rs61752871
RPE65
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. 11095629

2000
dbSNP: rs61752896
rs61752896
RPE65
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		C 0.800 CausalMutation CLINVAR

dbSNP: rs61752908
rs61752908
RPE65
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		T 0.800 GeneticVariation CLINVAR Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. 26427455

2016
dbSNP: rs61752908
rs61752908
RPE65
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		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
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		T 0.800 GeneticVariation CLINVAR Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. 16096063

2005