×
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
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
Retinal Dystrophies
0.460
CausalMutation
CLINVAR
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
15258582 2004
×
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: 23418
Gene Symbol: CRB1
CRB1
Retinal Dystrophies
0.200
CausalMutation
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
CausalMutation
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
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
CausalMutation
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
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
CausalMutation
CLINVAR
Clinical and molecular characteristics of childhood-onset Stargardt disease.
25312043 2015
×
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
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
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
23918662 2013
×
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
CausalMutation
CLINVAR
Analysis of the ABCA4 gene by next-generation sequencing.
21911583 2011
×
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: 23418
Gene Symbol: CRB1
CRB1
Retinal Dystrophies
0.200
CausalMutation
CLINVAR
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
18055820 2007
×
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
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
CausalMutation
CLINVAR
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
11379881 2001
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
An analysis of allelic variation in the ABCA4 gene.
11328725 2001