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 |
rs886044304
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs878853350
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs794727631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
|
22581970 |
2012 |
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 |
rs777735735
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs770748359
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs770111708
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs764229134
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs761238771
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
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 |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |
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 |
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
|
25268133 |
2014 |
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 |
rs752953889
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs752736741
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs749909863
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One novel (c.7492G>C:p.Ala2498Pro and c.8422C>T:p.Ala2808Thr) and one reported (c.8012T>A:p.Leu2671X and 6416G>A</span>:p.Cys2139Tyr) pair of compound heterozygous mutations, as well as one reported compound homozygous mutation (c.6416G>A:p.Cys2139Tyr/c.8012T>A:p.Leu2671X), were identified in the <i>EYS</i> gene from three families with autosomal recessive RP.
|
30804660 |
2019 |
rs528919874
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs527236078
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236077
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236076
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236076
|
|
|
0.710 |
GeneticVariation |
BEFREE |
One novel (c.7492G>C:p.Ala2498Pro and c.8422C>T:p.Ala2808Thr) and one reported (c.8012T>A:p.Leu2671X and 6416G>A:p.Cys2139Tyr) pair of compound heterozygous mutations, as well as one reported compound homozygous mutation (c.6416G>A:p.Cys2139Tyr/c.8012T>A:p.Leu2671X), were identified in the <i>EYS</i> gene from three families with autosomal recessive RP.
|
30804660 |
2019 |
rs527236075
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236074
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|