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Recognized gene
ABCA4
Normalized c.HGVS
c.1317G>C, c.1493A>G, c.1544A>G, c.1586A>G, c.1645G>A and 44 more
Normalized p.HGVS
p.(=), p.(Ala1255Val), p.(Ala1287Val), p.(Ala1326Gly), p.(Ala549Thr) and 43 more
Matching records
211
PM3-positive records
33
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 |
|---|---|---|---|---|---|---|
| ABCA4 |
NM_000350.3:c.2267C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.157G>A; p.(Glu53Lys)
context: Confirmed in trans
|
35806387
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
International journal of molecular sciences, 2022
|
Main article | |
| ABCA4 |
NM_000350.3:c.5692C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4739T>C; c.6515A>G; p.(Leu1580Ser)
context: Compound heterozygous candidate
|
39865314
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Clinical genetics, 2025
|
Main article | |
| ABCA4 |
NM_000350.3:c.2819C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.161-23T>G; c.3364G>A; Cys54=; +2 more
context: Compound heterozygous candidate
|
39087934
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.
Investigative ophthalmology & visual science, 2024
|
Main article | |
| ABCA4 |
NM_000350.3:c.3755A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3863-1094T>A
context: Compound heterozygous candidate
|
38928247
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
International journal of molecular sciences, 2024
|
Main article | |
| ABCA4 |
NM_000350.3:c.2828G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
38790275
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Genes, 2024
|
Main article | |
| ABCA4 |
NM_000350.3:c.302+68C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4539+2028C>T
context: Compound heterozygous candidate
|
40225145
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Human mutation, 2023
|
Main article | |
| ABCA4 |
NM_000350.3:c.302+68C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2160 + 1G > C; c.302 + 68C > T; c.4539 + 2028C > T; +2 more
context: Compound heterozygous candidate
|
37296172
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Scientific reports, 2023
|
Main article | |
| ABCA4 |
NM_000350.3:c.5560G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.365_366insCA; c.5603A>T; c.5882G>A; +3 more
context: Compound heterozygous candidate
|
36672932
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Genes, 2023
|
Main article | |
| ABCA4 |
NM_000350.3:c.2576A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2041C > T; Arg681*
context: Compound heterozygous candidate
|
36259723
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Human mutation, 2022
|
Main article | |
| ABCA4 |
NM_000350.3:c.5692C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1239 + 1G > C; p.(Ala1038Val); p.(Leu541Pro)
context: Compound heterozygous candidate
|
35260635
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Scientific reports, 2022
|
Main article | |
| ABCA4 |
NM_000350.3:c.3610G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5527C>T; p.Arg1843Trp
context: Compound heterozygous candidate
|
35156991
Choroidal Caverns in Stargardt Disease.
Investigative ophthalmology & visual science, 2022
|
Main article | |
| ABCA4 |
NM_000350.3:c.5606C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2692G>T; c.5461-10T>C; p.Glu898Xaa
context: Compound heterozygous candidate
|
33185728
Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2021
|
Main article | |
| ABCA4 |
NM_000350.3:c.1586A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1532G>A; p.R511H
context: Compound heterozygous candidate
|
32884132
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021
|
Supplementary material | |
| ABCA4 |
NM_000350.3:c.1492G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 250insCAAA; 4017ins24bp; G1961E; +2 more
context: Compound heterozygous candidate
|
32821503
Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial.
Translational vision science & technology, 2020
|
Main article | |
| ABCA4 |
NM_000350.3:c.302+68C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6743T>C; p.Phe2248Ser
context: Compound heterozygous candidate
|
31963381
Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Genes, 2020
|
Main article | |
| ABCA4 |
NM_000350.3:c.3830C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4774-2A > G; Splice variant
context: Compound heterozygous candidate
|
31934596
Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.
Eye and vision (London, England), 2020
|
Main article | |
| ABCA4 |
NM_000350.3:c.5606C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
31799409
Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography.
BMJ open ophthalmology, 2019
|
Main article | |
| ABCA4 |
NM_000350.3:c.2819C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1050del; c.3364G>A; p.(Glu1122Lys); +1 more
context: Confirmed in trans
|
30060493
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
International journal of molecular sciences, 2018
|
Main article | |
| ABCA4 |
NM_000350.3:c.4696C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.3056C>T; p.(Thr1019Met)
context: Confirmed in trans
|
30060493
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
International journal of molecular sciences, 2018
|
Main article | |
| ABCA4 |
NM_000350.3:c.302+68C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4539+2028C>T; c.6148–698_ c.6670del - 4770 bp del; 4770 bp del
context: Compound heterozygous candidate
|
30055151
Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.
American journal of ophthalmology, 2018
|
Main article | |