Search GLEAM-DB / CoGenEx-PM3
Advanced search and filters
Input query
Recognized gene
EYS
Normalized c.HGVS
c.1059T>A, c.1082T>C, c.1418G>T, c.1459+5C>T, c.1466A>T and 45 more
Normalized p.HGVS
p.(=), p.(Ala1465Thr), p.(Ala1801Thr), p.(Ala1984Thr), p.(Arg1148Lys) and 43 more
Matching records
119
PM3-positive records
20
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| EYS |
NM_001142800.2:c.9263G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5928-2A>G
context: Compound heterozygous candidate
|
39588395
Retinitis Pigmentosa Associated With EYS Gene Mutations in Puerto Rico: A Case Series.
Cureus, 2024
|
Main article | |
| EYS |
NM_001142800.2:c.3293C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.904C>T; p.Leu302Phe
context: Compound heterozygous candidate
|
36513702
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.
Scientific reports, 2022
|
Supplementary material | |
| EYS |
NM_001142800.2:c.4402G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36284670
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
Molecular vision, 2022
|
Main article | |
| EYS |
NM_001142800.2:c.2953_2961del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.5644+5G>A
context: Compound heterozygous candidate
|
35816039
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Translational vision science & technology, 2022
|
Main article | |
| EYS |
NM_001142800.2:c.6410G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2756G > A; p.Gly919Glu
context: Compound heterozygous candidate
|
32100970
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Molecular genetics & genomic medicine, 2020
|
Main article | |
| EYS |
NM_001142800.2:c.4465C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2234A>G; p.Asn745Ser
context: Compound heterozygous candidate
|
32037395
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
|
Supplementary material | |
| EYS |
NM_001142800.2:c.8080A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.9354dup; p.Gln3119SerfsTer7
context: Compound heterozygous candidate
|
32037395
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
|
Supplementary material | |
| EYS |
NM_001142800.2:c.9235C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.9131G>T; p.Trp3044Leu
context: Compound heterozygous candidate
|
32037395
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
|
Supplementary material | |
| EYS |
NM_001142800.2:c.2953_2961del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.8805C>A; p.(Tyr2935*)
context: Compound heterozygous candidate
|
31960602
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Molecular genetics & genomic medicine, 2020
|
Main article | |
| EYS |
NM_001142800.2:c.7793G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with JV1
context: Compound heterozygous candidate
|
31814702
Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.
Molecular vision, 2019
|
Main article | |
| EYS |
NM_001142800.2:c.3250A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3443+1G>T; c.4402G>C; p.(?); +1 more
context: Compound heterozygous candidate
|
29550188
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
American journal of ophthalmology, 2018
|
Main article | |
| EYS |
NM_001142800.2:c.4402G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3250A>C; c.3443+1G>T; p.(?); +1 more
context: Compound heterozygous candidate
|
29550188
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
American journal of ophthalmology, 2018
|
Main article | |
| EYS |
NM_001142800.2:c.9368A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6416G>A; C2139Y
context: Compound heterozygous candidate
|
27375351
Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.
Molecular vision, 2016
|
Main article | |
| EYS |
NM_001142800.2:c.1418G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C2971T; c.[2971C>T]; p.L991F
context: Compound heterozygous candidate
|
26787102
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
Scientific reports, 2016
|
Main article | |
| EYS |
NM_001142800.2:c.3250A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26667666
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports, 2015
|
Main article | |
| EYS |
NM_001142800.2:c.4402G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3443+1G>T; p.?
context: Compound heterozygous candidate
|
26667666
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific reports, 2015
|
Main article | |
| EYS |
NM_001142800.2:c.5401G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
26496393
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
PloS one, 2015
|
Supplementary material | |
| EYS |
NM_001142800.2:c.7793G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.4957_4958insA; p.S1653KfsX2
context: Compound heterozygous candidate
|
22363543
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
PloS one, 2012
|
Main article | |
| EYS |
NM_001142800.2:c.4891C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7796A>G; p.(H2599R)
context: Compound heterozygous candidate
|
22334370
Next-generation genetic testing for retinitis pigmentosa.
Human mutation, 2012
|
Supplementary material | |
| EYS |
NM_001142800.2:c.3695T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1767-?_2023+?del; c.1971delT; p.C590YfsX4; +3 more
context: Compound heterozygous candidate
|
22164218
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
PloS one, 2011
|
Main article | |