rs527236067
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs527236076
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs1326370032
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs199740930
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs373203896
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs527236065
|
|
CT |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs528919874
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs752953889
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs761238771
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs886044304
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs779983752
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
|
29550188 |
2018 |
rs752953889
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |
rs760798455
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.
|
25491159 |
2015 |
rs752953889
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
|
25268133 |
2014 |
rs930421180
|
|
A |
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 |
rs794727631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
|
22581970 |
2012 |
rs181169439
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
|
22164218 |
2011 |
rs398123575
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
|
20537394 |
2010 |
rs752953889
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
|
21069908 |
2010 |
rs752953889
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
|
18976725 |
2008 |
rs1060499783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs112822256
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1168101857
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1291867456
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1346842287
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|