Gene: EYS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236076
rs527236076
PHF3 ; EYS
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
dbSNP: rs527236067
rs527236067
PHF3 ; EYS
0.710 GeneticVariation BEFREE Screening for c.4957_4958insA and c.8868C>A mutations in the EYS gene may therefore be very effective for the genetic testing and counseling of RP patients in Japan. 22363543

2012
dbSNP: rs527236067
rs527236067
PHF3 ; EYS
T 0.710 CausalMutation CLINVAR

dbSNP: rs527236076
rs527236076
PHF3 ; EYS
T 0.710 GeneticVariation CLINVAR

dbSNP: rs1326370032
rs1326370032
PHF3 ; EYS
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs199740930
rs199740930
EYS
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs373203896
rs373203896
PHF3 ; EYS
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs527236065
rs527236065
EYS
CT 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs528919874
rs528919874
PHF3 ; EYS
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs752953889
rs752953889
EYS
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs761238771
rs761238771
EYS
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs886044304
rs886044304
EYS
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs779983752
rs779983752
PHF3 ; EYS
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
dbSNP: rs752953889
rs752953889
EYS
T 0.700 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015
dbSNP: rs760798455
rs760798455
EYS
A 0.700 CausalMutation CLINVAR Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations. 25491159

2015
dbSNP: rs752953889
rs752953889
EYS
T 0.700 GeneticVariation CLINVAR Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. 25268133

2014
dbSNP: rs930421180
rs930421180
EYS
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
dbSNP: rs794727631
rs794727631
EYS
A 0.700 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970

2012
dbSNP: rs181169439
rs181169439
EYS
C 0.700 CausalMutation CLINVAR Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. 22164218

2011
dbSNP: rs398123575
rs398123575
EYS
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
dbSNP: rs752953889
rs752953889
EYS
T 0.700 GeneticVariation CLINVAR Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. 21069908

2010
dbSNP: rs752953889
rs752953889
EYS
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
dbSNP: rs1060499783
rs1060499783
EYS ; LOC107986608
A 0.700 CausalMutation CLINVAR

dbSNP: rs112822256
rs112822256
EYS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1168101857
rs1168101857
PHF3 ; EYS
C 0.700 CausalMutation CLINVAR