×
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
Retinal Dystrophies
0.500
GeneticVariation
CLINVAR
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
18599565 2008
×
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
Retinal Dystrophies
0.500
GeneticVariation
CLINVAR
Here we report that the analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation (Pro363Thr), two point mutations affecting splicing (912 + 1G-->T and 65 + 5G-->A) and two small re-arrangements (ins144T and 831del8) on a total of nine alleles of five patients with arCSRD.
9326941 1997
×
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Retinal Dystrophies
0.460
GeneticVariation
CLINVAR
×
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
Retinal Dystrophies
0.460
GeneticVariation
CLINVAR
×
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
Retinal Dystrophies
0.420
GeneticVariation
CLINVAR
×
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
Retinal Dystrophies
0.400
GeneticVariation
CLINVAR
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
9973280 1999
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
22229821 2012
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
ABCA4 gene screening by next-generation sequencing in a British cohort.
23982839 2013
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
25066811 2014
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
11594993 2001
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
9054934 1997
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
23918662 2013
×
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20591486 2010
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
10958763 2000
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
10090887 1999
×
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
10508521 1999
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
9781034 1998
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
15614537 2005
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
9295268 1997
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
An analysis of allelic variation in the ABCA4 gene.
11328725 2001
×
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
Retinal Dystrophies
0.180
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
Retinal Dystrophies
0.170
GeneticVariation
CLINVAR