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Recognized gene
USH2A
Normalized c.HGVS
c.10058C>T, c.10633C>T, c.10634G>A, c.10855G>A, c.10878G>T and 45 more
Normalized p.HGVS
p.(Ala1617Val), p.(Ala4153Val), p.(Ala5183Thr), p.(Arg1295Gln), p.(Arg1295Leu) and 45 more
Matching records
597
PM3-positive records
56
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 |
|---|---|---|---|---|---|---|
| USH2A |
NM_206933.4:c.7951A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2276G>T; p.(Cys759Phe)
context: Confirmed in trans
|
40926010
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Eye (London, England), 2025
|
Main article | |
| USH2A |
NM_206933.4:c.3045C>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.6992G > A; p.(Gly2331Glu)
context: Confirmed in trans
|
31877679
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
International journal of molecular sciences, 2019
|
Main article | |
| USH2A |
NM_206933.4:c.907C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.10182G>A; Lys3394=
context: Compound heterozygous candidate
|
41615371
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Investigative ophthalmology & visual science, 2026
|
Main article | |
| USH2A |
NM_206933.4:c.12145G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.274T>G; p.(S92A)
context: Compound heterozygous candidate
|
39858579
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Genes, 2024
|
Main article | |
| USH2A |
NM_206933.4:c.274T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.12145G>A; p.(A4049T)
context: Compound heterozygous candidate
|
39858579
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Genes, 2024
|
Main article | |
| USH2A |
NM_206933.4:c.13217T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.12100G>T; p.(Glu4034Ter)
context: Compound heterozygous candidate
|
39498320
Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
Frontiers in genetics, 2024
|
Main article | |
| USH2A |
NM_206933.4:c.9244A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.14926G>A; p.Gly4976Ser
context: Compound heterozygous candidate
|
39451534
Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients.
Current issues in molecular biology, 2024
|
Main article | |
| USH2A |
NM_206933.4:c.9433C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39044131
A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.
BMC ophthalmology, 2024
|
Main article | |
| USH2A |
NM_206933.4:c.907C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1879C>T; c.2209C>T; Arg737*; +1 more
context: Compound heterozygous candidate
|
38189974
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2024
|
Supplementary material | |
| USH2A |
NM_206933.4:c.8609C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5629G>C; p.(Ala1877Pro)
context: Compound heterozygous candidate
|
37811145
Next-generation sequencing improves precision medicine in hearing loss.
Frontiers in genetics, 2023
|
Main article | |
| USH2A |
NM_206933.4:c.9433C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11105G>A; p.(Trp3702∗)
context: Compound heterozygous candidate
|
36785559
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG advances, 2023
|
Main article | |
| USH2A |
NM_206933.4:c.9949C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11864G>A; p.(Trp3955∗)
context: Compound heterozygous candidate
|
36785559
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG advances, 2023
|
Main article | |
| USH2A |
NM_206933.4:c.3584G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
36646238
Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
American journal of ophthalmology, 2023
|
Main article | |
| USH2A |
NM_206933.4:c.9949C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.9878del; c.990_991del; deletion exon 14; +5 more
context: Compound heterozygous candidate
|
36460718
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific reports, 2022
|
Supplementary material | |
| USH2A |
NM_206933.4:c.12415G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2802T > G; p. (Cys934Trp)
context: Compound heterozygous candidate
|
36034145
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
Frontiers in aging neuroscience, 2022
|
Main article | |
| USH2A |
NM_206933.4:c.13894C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2276G > T; p.(Cys759Phe)
context: Compound heterozygous candidate
|
34327195
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
Frontiers in cell and developmental biology, 2021
|
Main article | |
| USH2A |
NM_206933.4:c.4955C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6957 + 1G > C; p.?
context: Compound heterozygous candidate
|
34327195
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
Frontiers in cell and developmental biology, 2021
|
Main article | |
| USH2A |
NM_206933.4:c.1891G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5858C>G; p.(Ala1953Gly)
context: Compound heterozygous candidate
|
33576794
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Investigative ophthalmology & visual science, 2021
|
Supplementary material | |
| USH2A |
NM_206933.4:c.5330G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.12006C>A; c.187C>T; c.2276G>T; +3 more
context: Compound heterozygous candidate
|
33576794
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Investigative ophthalmology & visual science, 2021
|
Supplementary material | |
| USH2A |
NM_206933.4:c.4714C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.2299del; p.(Glu767Serfs*21)
context: Compound heterozygous candidate
|
33535592
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.
Diagnostics (Basel, Switzerland), 2021
|
Main article | |