×
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Retinitis Pigmentosa
0.800
GeneticVariation
CLINVAR
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
10932196 2000
×
Entrez Id: 1406
Gene Symbol: CRX
CRX
Retinitis Pigmentosa
0.800
GeneticVariation
CLINVAR
×
Entrez Id: 1406
Gene Symbol: CRX
CRX
Retinitis Pigmentosa
0.800
CausalMutation
CLINVAR
×
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
Retinitis Pigmentosa
0.710
GeneticVariation
CLINVAR
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 6010
Gene Symbol: RHO
RHO
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
29550188 2018
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Clinical and molecular characteristics of childhood-onset Stargardt disease.
25312043 2015
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
26497376 2015
×
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
26497376 2015
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
26667666 2015
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.
25491159 2015
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
25268133 2014
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.
25133613 2014
×
Entrez Id: 10461
Gene Symbol: MERTK
MERTK
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
24625443 2014
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
23940504 2013
×
Entrez Id: 346007
Gene Symbol: EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
24265693 2013
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
24265693 2013