183 Matching Annotations
  1. Last 7 days
  2. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0014483516300458
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders
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    ncbi.nlm.nih.gov/pmc/articles/PMC5767668/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    PROGRESSION OF ABCA4-RELATED RETINOPATHY: Prognostic value of demographic, functional, genetic, and imaging parameters
    1
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    pubmed.ncbi.nlm.nih.gov/33214501/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study
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    ncbi.nlm.nih.gov/pmc/articles/PMC6076228/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs
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    ncbi.nlm.nih.gov/pmc/articles/PMC5270621/
  7. www.aaojournal.org www.aaojournal.org
    A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease
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    aaojournal.org/article/S0161-6420(24)00096-4/fulltext
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
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    ncbi.nlm.nih.gov/pmc/articles/PMC10202926/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Inner and Outer Retinal Changes in Retinal Degenerations Associated With ABCA4 Mutations
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    ncbi.nlm.nih.gov/pmc/articles/PMC3968929/
  10. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8715792/
  11. iovs.arvojournals.org iovs.arvojournals.org
    Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study
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    iovs.arvojournals.org/article.aspx
  12. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes
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    pmc.ncbi.nlm.nih.gov/articles/PMC7883928/
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Psychophysical Measurement of Rod and Cone Thresholds in Stargardt Disease with Full-Field Stimuli
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4145077/
  14. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5786429/
  15. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene
    1
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    pubmed.ncbi.nlm.nih.gov/19959634/
  16. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC1287897/
  17. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease
    1
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    pubmed.ncbi.nlm.nih.gov/31212395/
  18. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy
    1
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    pubmed.ncbi.nlm.nih.gov/37498587/
  19. jamanetwork.com jamanetwork.com
    Variation of Clinical Expression in Patients With Stargardt Dystrophy and Sequence Variations in the ABCRGene
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    jamanetwork.com/journals/jamaophthalmology/fullarticle/411770
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis
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    ncbi.nlm.nih.gov/pmc/articles/PMC2660377/
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Investigating the associations of macular edema in retinitis pigmentosa
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC10469217/
  22. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Complex Inheritance of ABCA4 Disease: Four Mutations in a Family with Multiple Macular Phenotypes
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4699863/
  23. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3005782/
  24. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Late-onset Stargardt disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8866146/
  25. iovs.arvojournals.org iovs.arvojournals.org
    ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration
    1
    1. Vibhor 26 Jul 2026
      ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration

      PMID: 10634626 Gene: ABCA4 HGNCID: HGNC:34

      Fifty-two unrelated French patients referred to the Eye University Clinic of Creteil for unilateral or bilateral exudative AMD due to any type of choroidal neovascularization (well-defined, occult, or vascularized pigment epithelium detachment) were included in this study.

      SSCP analysis in a control population, obtained from 90 unrelated French individuals without any complaint of visual impairment. Our control group was not age- or sex-matched, and no ophthalmological examination was performed for these individuals.

      MonDO:

      Case: DiseaseAssertion: Age-related macular degeneration FamilyInfo: CasePresentingHPOs: CaseHPOFreeText: CaseNOTHPOs: CaseNOTHPOFreeText: CasePreviousTesting:

      GenotypingMethod: entire coding sequence of the ABCR gene using a combination of single-strand conformation polymorphism (SSCP) and direct sequence analysis of each exon

      Variant: "ABCR" (ABCA4), p.Ser2255ile

      PMID:10634626 General Segregation HGNC:34 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    iovs.arvojournals.org/article.aspx
  26. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5894961/
  27. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic variation in human drug-related genes
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5740940/
  28. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    PERIPAPILLARY ATROPHY IN STARGARDT DISEASE
    4
    2. Vibhor 26 Jul 2026
      Case 1

      Case#: 55 year old female

      DiseaseAssertion: Stargardt

      FamilyInfo: no significant ocular disease shown.

      CasePresentingHPOs: difficulty reading materials 6 inches from her eyes, decreased visual acuity from age seven. BCVA was 20/150 OU. Posterior segment exam and autofluorescence was significant for bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions.

      CaseHPOFreeText: NR

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      Genotyping Method: ABCR400 microarray

      PreviouslyPublished: NR

      Variant: NM_000350.3:c.4139C>T, NM_000350.3(ABCA4):c.6089G>A

      ClinVar: 7904, 99428

      CAID: CA129033

      SupplementalData: NR

      ClinVar: 7904 CA129033 CaseInfo General Gene:ABCA4 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
    3. Vibhor 26 Jul 2026
      Case 5

      Case#: a 46-year-old male

      DiseaseAssertion: Stargardt Disease

      FamilyInfo:visual acuity loss by his brother and father

      CasePresentingHPOs: HP:0007663

      CaseHPOFreeText: visual acuity measured 20/400 bilaterally

      CaseNotHPOs: NR

      CaseNotHPOFreeText:NR

      Genotyping Method: ABCA4 microarray (ABCR5000 chip)

      PreviouslyPublished: NR

      Variant: c.5714+5G>A

      ClinVar: 99403

      CAID: CA227338

      SupplementalData:NR

      ClinVar: 99403 CA227338 General Gene:ABCA4 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC2743754/
  29. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland
    1
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    pubmed.ncbi.nlm.nih.gov/25472526/
  30. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6120373/
  31. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Variants in the ABCA4 gene in a Brazilian population with Stargardt disease
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    pubmed.ncbi.nlm.nih.gov/30093795/
  32. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report
    1
    1. Vibhor 26 Jul 2026
      A 43-year-old white female

      Case#: 43 year old woman II:2

      DiseaseAssertion: Stargardt disease (STGD1)

      FamilyInfo: none of family had co-existing systemic disorders, father carried variant, probands affected suster did not

      CasePresentingHPOs:HP:0000007

      CaseHPOFreeText: loss of ellipsoid zone, mascular dystrophy with features of bull's eye maculopathy,

      CaseNotHPOs: na

      CaseNotHPOFreeText: na

      Genotyping Method: sanger sequencing

      PreviouslyPublished: n/a

      Variant: c.4685 T > C, p.(I1562T)

      ClinVar: not found

      CAID: not found

      SupplementalData: probands affected sister did not carry the ABAA4 variant, indicating ABCA4 was not relevant to mascular dystrophy in family, CRX variant was also found

      PMID:33836713 Gene:ABCA4 General HGNC:34 CRX CaseStudy automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC8034119/
  33. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease
    1
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    pubmed.ncbi.nlm.nih.gov/30285522/
  34. www.ajo.com www.ajo.com
    Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants
    1
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    ajo.com/article/S0002-9394(20)30323-8/fulltext
  35. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Preimplantation Genetic Diagnosis for Stargardt Disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2886672/
  36. www.sciencedirect.com www.sciencedirect.com
    A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease
    1
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    sciencedirect.com/science/article/pii/S0002939499002366
  37. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6562004/
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6362094/
  39. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy
    1
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    pubmed.ncbi.nlm.nih.gov/22661472/
  40. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
    1
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    pubmed.ncbi.nlm.nih.gov/32307445/
  41. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial
    1
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    pubmed.ncbi.nlm.nih.gov/10396622/
  42. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies
    1
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    pubmed.ncbi.nlm.nih.gov/33090715/
  43. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging
    1
    1. Vibhor 26 Jul 2026
      Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

      PMID: 31980526

      Gene: ABCA4

      Disease: adults ≥18 y old without acute illness, activity-limiting unexplained illness or symptoms, or known active cancer

      prospective cohort study: 3-y precision medicine study with a goal to integrate whole-genome sequencing with deep phenotyping.

      ClinGen General ABCA4 automated_hgnc:34 automated_hgnc_source:Gene_Name ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC7022190/
  44. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC12503724/
  45. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.22716
  46. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
    2
    1. Vibhor 26 Jul 2026
      Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

      PMID: 18334942

      Gene: ABCA4

      HGNC ID: 34

      Case#: patient 33, male, Spanish

      DiseaseAssertion: STGD

      FamilyInfo: Figure 1. Both parents and two siblings of the proband were heterozygous for ABCA4 c.5413A>G allele. Sister affected despite heterozygosity.

      CasePresentingHPOs: HP:0007663, HP:0030786, HP:0007722

      CaseHPOFreeText: myopia, astigmatism, opafication of posterior pole of lens, hyperpigmentation, a few central yellowish flecks, shallow peripheral scotomas in both eyes, full-field ERG response showed slightly reduced—but still within the normal range—amplitudes for rod, mixed cone-rod, cone single flash, and cone flicker, respectively.

      CasePreviousTesting: n/a

      GenotypingMethod: microarray

      PreviouslyPublished: 11385708, 12442277

      Variant: ABCA4 p.Asn1805Asp (c.5413A>G)

      ClinVar: 99373 https://www.ncbi.nlm.nih.gov/clinvar/variation/99373/?term=%22ABCA4%22%5BGENE%5D+AND+%22p.Asn1805Asp%22%5BVARNAME%5D+AND+%22(c.5413A%3EG)%22%5BVARNAME%5D

      gnomAD: 0.000009292 https://gnomad.broadinstitute.org/variant/1-94014590-T-C?dataset=gnomad_r4

      General ABCA4 HGNC:34 PMID:18334942 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

      PMID: 18334942

      Gene: ABCA4

      HGNCID: 34

      Case#: patient 26, female, Spanish

      DiseaseAssertion: early onset RP

      FamilyInfo: Figure 1. One brother homozygous for ABCA4 c.5413A.G allele, parents and one brother heterozygous for ABCA4 c.5413A>G allele. All three brothers and father carriers of p.Cys948Tyr allele on the CRB1 gene. Mother heterozygous for p. Trp822ter (c.2465G>A)

      CasePresentingHPOs: HP:0000662, HP:0001133, HP:0007663,

      CaseHPOFreeText: hyperopia, astigmatism, nystagmus, roundish pigments distributed across entire retina including peripheral retina, posterior pole, and macular region, filiform constriction on retinal vessels.

      CasePreviousTesting: N/A

      GenotypingMethod: Microarray

      PreviouslyPublished: 11385708, 12442277

      Variant: ABCA4 p.Asn1805Asp (c.5413A>G)

      ClinVar: 99373 https://www.ncbi.nlm.nih.gov/clinvar/variation/99373/?term=%22ABCA4%22%5BGENE%5D+AND+%22p.Asn1805Asp%22%5BVARNAME%5D+AND+%22(c.5413A%3EG)%22%5BVARNAME%5D

      gnomAD: 0.000009292 https://gnomad.broadinstitute.org/variant/1-94014590-T-C?dataset=gnomad_r4

      General ABCA4 HGNC:34 PMID:18334942 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC2258218/
  47. www.aaojournal.org www.aaojournal.org
    Highly Variable Disease Courses in Siblings with Stargardt Disease
    1
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    aaojournal.org/article/S0161-6420(19)30657-8/fulltext
  48. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2665199/
  49. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
    1
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    pubmed.ncbi.nlm.nih.gov/24938718/
  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7352060/
  51. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip
    1
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    pubmed.ncbi.nlm.nih.gov/20801516/
  52. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12740048/
  53. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5749571/
  54. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Quantitative Autofluorescence as a Clinical Tool for Expedited Differential Diagnosis of Retinal Degeneration
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4370211/
  55. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele?
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5465797/
  56. www.mdpi.com www.mdpi.com
    Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis
    1
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    mdpi.com/2073-4425/14/2/484
  57. iovs.arvojournals.org iovs.arvojournals.org
    Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations
    1
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    iovs.arvojournals.org/article.aspx
  58. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Retinal findings in a patient with mutations in ABCC6 and ABCA4
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6137180/
  59. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population
    1
    1. Vibhor 26 Jul 2026
      Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

      PMID: 29706639

      Gene: ABCA4

      HGNCID: HGNC:34

      MonDO: MONDO:0019353

      Bioinformatic analyses of an SQL-based database containing 12272 variants that appear in 178 IRD genes in 5706 individuals of Ashkenazi Jewish origin based on the gnomAD database (version 2) and variants that were published in the scientific literature that was extracted from HGMD. Authors extracted information regarding IRD variants from various sources (including data of 5706 Ashkenazi Jewish (AJ) samples and a large cohort of Israeli patients with IRDs) to estimate carrier frequency of IRD mutations in different subpopulations in Israel. Two major databases aiming to estimate carrier frequency of IRD mutations in the Israeli population (Fig. 1): “gnomAD-AJ-IRD DB” containing data of 5706 AJ controls extracted from gnomAD and “HW-IRD DB” containing data extracted from our cohort of Israeli patients with IRDs.

      See Fig 2 for breakdown of variants analyzed.

      The final DB (IRDB) (Fig. 1 and Table S7) includes all 399 variants from “gnomAD-AJ-IRD DB” and “HW-IRD DB” that were considered here as pathogenic mutations in 111 known IRD genes.

      To establish the “HW-IRD DB” (Fig. 1), we collected data on Israeli IRD patients with a known cause of disease (a cohort of >2000 IRD families). The HW-IRD DB includes 289 pathogenic mutations (Fig. 1) that were identified in IRD patients who have biallelic variants.

      SupplementalData: S7, carrier frequency data for each mutation in all nine studied subpopulations. Carrier frequency was calculated as 2pq where p = 1 − q and q was calculated as the root square of the number of homozygous patients plus half the number of compound heterozygous patients divided by the population size

      Variant: NM_000350.2:c.4895dup,p.Asn1632fs

      CAID: CA915941330

      Case: Ashkenazi Jewish patient with inherited retinal disease, STGD, CRD

      CasePresentingHPOs: HP:0000548 (Cone/cone-rod dystrophy, CRD)

      CaseHPOFreeText: Stargardt disease (STGD)

      General Gene:ABCA4 Individual PMID:29706639 CAID:CA915941330 MONDO:0019353 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC6057931/
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8033171/
  61. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Unusual clinical phenotype of Stargardt disease
    3
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    pmc.ncbi.nlm.nih.gov/articles/PMC11826603/
  62. jamanetwork-com.libproxy.lib.unc.edu jamanetwork-com.libproxy.lib.unc.edu
    Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis
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    jamanetwork-com.libproxy.lib.unc.edu/journals/jamaophthalmology/fullarticle/2817278
  63. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC10256698/
  64. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
    2
    1. Vibhor 26 Jul 2026
      Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

      PMID: 10874631

      Gene: ABCA4

      HGNC ID: 34

      Case#: patient 34, female

      DiseaseAssertion: RP19

      FamilyInfo: paternal first cousin with STGD, healthy father heterozygous for 1938-1 G>A splice mutation, mother homozygous for normal allele

      CasePresentingHPOs: HP:0000662, HP:0007663, HP:0007737, HP:0001133

      CaseHPOFreeText: choriocapillaris atrophy, severe concentric reduction of the visual field, abrogation of rod function

      Genotyping Method: PRISMTM Ready Reaction Sequencing Kit on an automatic fluorometric DNA sequencer

      PreviouslyPublished: N/A

      Variant: NM_000350.3(ABCA4):c.1938-1G>A

      ClinVar: 99106 https://www.ncbi.nlm.nih.gov/clinvar/variation/99106/?term=%22ABCA4%22%5BGENE%5D+AND+%22(c.1938-1G%3EA)%22%5BVARNAME%5D

      gnomAD: 0.000002488 https://gnomad.broadinstitute.org/variant/1-94060760-C-T?dataset=gnomad_r4

      General ABCA4 HGNC:34 PMID:10874631 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
    2. Vibhor 26 Jul 2026
      Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

      PMID: 10874631

      Gene: ABCA4

      HGNC ID: 34

      Case#: patient 34, female

      DiseaseAssertion: STGD

      FamilyInfo: paternal first cousin with RP19, healthy father heterozygous for 1938-1 G>A splice mutation

      CasePresentingHPOs: HP:0007663, HP:0000608, HP:0000603,

      CaseHPOFreeText: yellowish flecks

      Genotyping Method: PRISMTM Ready Reaction Sequencing Kit on an automatic fluorometric DNA sequencer

      PreviouslyPublished: N/A

      Variant: NM_000350.3(ABCA4):c.1938-1G>A

      ClinVar: 99106 https://www.ncbi.nlm.nih.gov/clinvar/variation/99106/?term=%22ABCA4%22%5BGENE%5D+AND+%22(c.1938-1G%3EA)%22%5BVARNAME%5D

      gnomAD: 0.000002488 https://gnomad.broadinstitute.org/variant/1-94060760-C-T?dataset=gnomad_r4

      General ABCA4 HGNC:34 PMID:10874631 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC1734380/
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3683009/
  66. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10534262/
  67. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies
    1
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    pubmed.ncbi.nlm.nih.gov/32646556/
  68. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel statistical method for interpreting the pathogenicity of rare variants
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7796914/
  69. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8819279/
  70. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and molecular characteristics of childhood-onset Stargardt disease
    1
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    pubmed.ncbi.nlm.nih.gov/25312043/
  71. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Inherited retinal disease in Norway – a characterization of current clinical and genetic knowledge
    1
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    onlinelibrary.wiley.com/doi/10.1111/aos.14218
  72. academic-oup-com.libproxy.lib.unc.edu academic-oup-com.libproxy.lib.unc.edu
    Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence
    1
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    academic-oup-com.libproxy.lib.unc.edu/hmg/article-abstract/13/5/525/575460
  73. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4385427/
  74. oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
    STARGARDT DISEASE: Beyond Flecks and Atrophy
    1
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    oce-ovid-com.libproxy.lib.unc.edu/article/00006982-201712000-00019/HTML
  75. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect
    1
    1. Vibhor 26 Jul 2026
      The proband

      Case#:case 1 II:4

      DiseaseAssertion: Stargardt disease (STGD1)

      FamilyInfo: mother has identical phenotype as proband, dad and sister asymptomatic, brother was symptomatic at 8 years old, other brother symptomatic at 15 years old.

      CasePresentingHPOs: HP:0000007

      CaseHPOFreeText: at age 50, with central visual imparement in right eye, 20/40 right, 20/20 left, linear and branching hyperautofluorescent subretinal deposits and extrafoveal RPE atrophy in both eyes,

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      Genotyping Method:

      PreviouslyPublished: n/a

      Variant: c.6031_6044delins18M/p.(Ile2003LeufsTer41)

      ClinVar: not found

      CAID: not found

      SupplementalData:

      PMID:32627976 HGNC:34 Gene:ABCA4 General Deletion automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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  76. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease
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    ncbi.nlm.nih.gov/pmc/articles/PMC5937799/
  77. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Retinoid Binding Properties of Nucleotide Binding Domain 1 of the Stargardt Disease-associated ATP Binding Cassette (ABC) Transporter, ABCA4
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3531725/
  78. iovs.arvojournals.org iovs.arvojournals.org
    An Analysis of Allelic Variation in the ABCA4 Gene
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  79. iovs.arvojournals.org iovs.arvojournals.org
    Spectrum of the ABCA4 Gene Mutations Implicated in Severe Retinopathies in Spanish Patients
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  80. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6739639/
  81. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Disruption in Bruch membrane in patients with Stargardt disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4407800/
  82. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Asymmetric Inter-Eye Progression in Stargardt Disease
    1
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    pubmed.ncbi.nlm.nih.gov/28002570/
  83. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC10003751/
  84. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
    1
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    pubmed.ncbi.nlm.nih.gov/14517951/
  85. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8162059/
  86. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4398921/
  87. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5223092/
  88. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0014483513000420
  89. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Double hyperautofluorescent ring on fundus autofluorescence in ABCA4
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5950710/
  90. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5749174/
  91. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Fine central macular dots associated with childhood-onset Stargardt Disease
    1
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    onlinelibrary.wiley.com/doi/10.1111/aos.12259
  92. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4-Associated Retinopathies
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4005615/
  93. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5204459/
  94. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy
    1
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    pubmed.ncbi.nlm.nih.gov/18024811/
  95. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7759801/
  96. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3679152/
  97. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Photorefractive keratectomy in a patient with Stargardt disease: Case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12093004/
  98. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p
    1
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    pubmed.ncbi.nlm.nih.gov/8533764/
  99. www.jmdjournal.org www.jmdjournal.org
    Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
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    jmdjournal.org/article/S1525-1578(20)30008-8/fulltext
  100. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6887784/
  101. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12147048/
  102. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    mRNA trans-splicing dual AAV vectors for (epi)genome editing and gene therapy
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC10584818/
  103. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5757858/
  104. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance
    1
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  105. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Superotemporal predisposition to traumatic subretinal fibrosis in Stargardt disease: A case report
    1
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  106. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
    1
    1. Vibhor 26 Jul 2026
      The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

      PMID: 28600779

      Gene: ABCA4

      HGNCID: HGNC:34

      MonDO:

      Case: 16N-0520, Male, Saudi Arabia, 1 yo

      DiseaseAssertion:

      FamilyInfo: Consanguineous parents, positive family history

      CasePresentingHPOs: HP:0000618, HP:0000648 (Blindness, Optic atrophy)

      CaseHPOFreeText: Coloboma of eye

      GenotypingMethod: WES, analysis of Vision Panel, constituent genes are described in PMID 26112015.

      SupplementalData: Supplemental table

      Variant: ABCA4:NM_000350:exon49:c.6764G>T:p.S2255I

      CAID: CA202970

      gnomAD: 0.4845 (gnomAD v4.0.0, Grpmax Filtered AF African/African-American) https://gnomad.broadinstitute.org/variant/1-93996161-C-A?dataset=gnomad_r4

      VariantEvidence: Authors classified as VOUS. But later downgraded to LB in PMID 31130284.

      General Gene:ABCA4 Individual HGNC:34 CAID:CA202970 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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  107. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
    1
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  108. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8427021/
  109. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies
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    pmc.ncbi.nlm.nih.gov/articles/PMC8391535/
  110. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    THE VALUE OF RETINAL IMAGING WITH INFRARED SCANNING LASER OPHTHALMOSCOPY IN PATIENTS WITH STARGARDT DISEASE
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    ncbi.nlm.nih.gov/pmc/articles/PMC4098760/
  111. academic-oup-com.libproxy.lib.unc.edu academic-oup-com.libproxy.lib.unc.edu
    ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies
    1
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    academic-oup-com.libproxy.lib.unc.edu/hmg/article-abstract/14/19/2769/617455
  112. oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
    PROGRESSION OF ABCA4 -RELATED RETINOPATHY: Prognostic value of demographic, functional, genetic, and imaging parameters
    1
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    oce-ovid-com.libproxy.lib.unc.edu/article/00006982-202012000-00012/HTML
  113. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ABCA4 disease progression and a proposed strategy for gene therapy
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    ncbi.nlm.nih.gov/pmc/articles/PMC2640207/
  114. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Original article: Molecular findings from 537 individuals with inherited retinal disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5106339/
  115. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy
    1
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    pubmed.ncbi.nlm.nih.gov/22229821/
  116. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8534466/
  117. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene
    1
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    pubmed.ncbi.nlm.nih.gov/12037008/
  118. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    From the Cover: Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7007541/
  119. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11011354/
  120. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ABCA4-associated retinopathy complicated by didanosine-associated retinal toxicity
    1
    1. Vibhor 26 Jul 2026
      ABCA4-associated retinopathy complicated by didanosine-associated retinal toxicity

      PMID: 41561667

      Gene: ABCA4

      HGNC ID: 34

      Case#: patient 66, male, Italy

      DiseaseAssertion: STGD

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000505, HP:0000551, HP:0000546

      CaseHPOFreeText: best-corrected visual acuity (BCVA) was 20/400 in both eyes, mild myopia, both eyes were pseudophakic, extensive bilateral chorioretinal atrophy involving both the posterior pole and the peripheral retina, widespread mottled hypoautofluorescence in the mid-periphery, along with pronounced macular hypoautofluorescence, significant central retinal thinning, an enlarged foveal depression, outer retinal hyper-reflectivity associated with extensive atrophy of both the RPE and the underlying choroid, dense epiretinal membrane (ERM) was also identified in the right eye, large central hypofluorescent zone involving the macular region and extending beyond the vascular arcades

      CasePreviousTesting: n/a

      GenotypingMethod: Next-Generation Sequencing

      PreviouslyPublished: n/a

      Variant: c.1714C > T p. (Arg572∗)

      ClinVar: 620085 https://www.ncbi.nlm.nih.gov/clinvar/variation/620085/?term=620085%5BVariation+ID%5D

      gnomAD: 0.000001859 https://gnomad.broadinstitute.org/variant/1-94063158-G-A?dataset=gnomad_r4

      Variant: c.2461T > A p. (Trp821Arg)

      ClinVar: 99136 https://www.ncbi.nlm.nih.gov/clinvar/variation/99136/?term=99136%5BVariation+ID%5D

      gnomAD: 0.000008054 https://gnomad.broadinstitute.org/variant/1-94055237-A-T?dataset=gnomad_r4

      Variant: c.4417C>А p. (Leu1473Met)

      ClinVar: 546600 https://www.ncbi.nlm.nih.gov/clinvar/variation/546600/?term=546600%5BVariation+ID%5D

      gnomAD: 0.00005762 https://gnomad.broadinstitute.org/variant/1-94029567-G-T?dataset=gnomad_r4

      General Gene:ABCA4 HGNC:34 PMID:41561667 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC12813201/
  121. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy
    1
    1. Vibhor 26 Jul 2026
      Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy

      PMID: 31618812

      Gene: ABCA4

      HGNCID: HGNC:34

      Patients: a group of 31 Stargardt disease/fundus flavimaculatus patients (14 males, 17 females) with an established ABCA4 genotype, accumulated prospectively over an interval of 12 months at the outpatient service of the Institution, were included in this study.

      MonDO: MONDO:0019353

      CaseInfo: Case 11, Male, 12yo. Compound het c.5882G > A; p.Gly1961glu (Pathogenic in ClinVar); c.6764G > T,p.Ser2255Ile

      DiseaseAssertion: Stargardt disease/fundus flavimaculatus

      FamilyInfo: Not provided

      CasePresentingHPOs: HP:0007769, HP:0000608, HP:0012045 (Peripheral retinal degeneration, Macular degeneration, Retinal flecks)

      CaseHPOFreeText: cone-rod pattern of retinal dysfunction

      GenotypingMethod: Mutation screening was performed by single-strand conformation polymorphism (SSCP) strategy of the whole coding region of ABCA4. Direct sequencing was also performed on siblings of probands and parents, when available, to confirm segregation of alleles.

      MultipleGeneVariants: (1) GeneName: ABCA4

      (1)Variant: c.5882G > A; p.Gly1961glu

      (1) CAID: CA119132

      (1) gnomAD: 0.01250 (gnomadv4.0.0, Grpmax Filtering AF, South Asian) https://gnomad.broadinstitute.org/variant/1-94008251-C-T?dataset=gnomad_r4

      (2) GeneName: ABCA4

      (2) Variant: c.6764G>T (p.Ser2255Ile)

      (2) CAID: CA202970

      (2) gnomAD: 0.4845 (gnomadv4.0.0, Grpmax Filtering AF, African/African-American) https://gnomad.broadinstitute.org/variant/1-93996161-C-A?dataset=gnomad_r4

      PMID:31618812 Gene:ABCA4 HGNC:34 General CAID:CA202970 Individual CAID:CA119132 MONDO:0019353 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC6835540/
  122. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
    1
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    pubmed.ncbi.nlm.nih.gov/38540785/
  123. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
    1
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    pubmed.ncbi.nlm.nih.gov/24444108/
  124. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation
    1
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    pubmed.ncbi.nlm.nih.gov/12192456/
  125. www.nature.com www.nature.com
    Biochemical defects in ABCR protein variants associated with human retinopathies
    1
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    nature.com/articles/ng1000_242
  126. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5859282/
  127. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3917917/
  128. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8255130/
  129. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing
    1
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    pubmed.ncbi.nlm.nih.gov/36284460/
  130. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
    1
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    pubmed.ncbi.nlm.nih.gov/19352439/
  131. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6579578/
  132. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S037811192300673X
  133. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4424957/
  134. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical science: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC2743849/
  135. Local file Local file
    Untitled document
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  136. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2553007/
  137. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2668911/
  138. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
    1
    1. Vibhor 26 Jul 2026
      A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

      PMID: 31456290

      Gene: ABCA4

      HGNCID: HGNC:34

      SupplementalData: as applicable Table S2. Variant found in cohort of 2,420 families including 3,413 individuals with inherited retinal diseases in Israel. Likely, this is the same family reported in PMID 29706639.

      Total number of families: 1; phenotype/s: CRD; NM_000350.2:c.4895dup, p.(Asn1632Lysfs*14)

      General PMID:31456290 Gene:ABCA4 automated_hgnc:34 automated_hgnc_source:Gene_Name ClinGen ABCA4 Annotations
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    pubmed.ncbi.nlm.nih.gov/31456290/
  139. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2660377/
  140. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7796138/
  141. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1
    1
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    onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31838
  142. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ABCA4 Gene Screening by Next-Generation Sequencing in a British Cohort
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3796939/
  143. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7272325/
  144. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3808491/
  145. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3842174/
  146. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    PROM1 gene variations in Brazilian patients with macular dystrophy
    1
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    pubmed.ncbi.nlm.nih.gov/28095140/
  147. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2935854/
  148. www.jbc.org www.jbc.org
    Biochemical Defects in Retina-specific Human ATP Binding Cassette Transporter Nucleotide Binding Domain 1 Mutants Associated with Macular Degeneration *
    1
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    jbc.org/article/S0021-9258(20)70434-5/fulltext
  149. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
    1
    1. Vibhor 26 Jul 2026
      proband at age 5, targeted testing of ABCA4

      Case#: 1

      DiseaseAssertion: stargardt disease originally but didn;t have fishtail flecks

      FamilyInfo: both unaffected parents carrying heterozygous MFSD8 variants

      CasePresentingHPOs:HP:0001272

      CaseHPOFreeText:at 5 years old BCVA was measured at a Snellen equivalent at 0.13 in both eyes, at age 8, BCVA had decreased to 0.07 in both eyes, complete absence of all retinal responses on full‐field flash ERG, No fishtail flecks typical of Stargardt disease were observed

      CaseNotHPOs: n/a

      CaseNotHPOFreeText:n/a

      Genotyping Method: HaloPlex target enrichment kit amplified and sequenced using illumina, then WES

      PreviouslyPublished: n/a

      Variant: c.3113C>T p.(Ala1038Val)

      ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/variation/7894/

      SupplementalData: MFSD8 variants identified

      PMID:31721179 General Gene:ABCA4 HGNC:34 automated_hgnc:34 automated_hgnc_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC7064892/
  150. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing
    1
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    pubmed.ncbi.nlm.nih.gov/29975949/
  151. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC1287885/
  152. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele
    1
    1. Vibhor 26 Jul 2026
      Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele

      PMID: 16917483

      Gene: ABCA4

      Disease: Stargardt

      This paper was referenced by PMID: 23755871 as containing variant c.6410G>A (p.Cys2137Tyr), but this variant foes not appear to be in the text or tables

      ClinGen General ABCA4 NoEvidence ClinVarID: 2202779 CA341277358 automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pubmed.ncbi.nlm.nih.gov/16917483/
  153. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5565704/
  154. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4572941/
  155. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8956586/
  156. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
    1
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    pubmed.ncbi.nlm.nih.gov/9973280/
  157. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Protein interactions and disease phenotypes in the ABC transporter superfamily
    1
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    pubmed.ncbi.nlm.nih.gov/17990484/
  158. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease
    1
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    pubmed.ncbi.nlm.nih.gov/31674661/
  159. iovs.arvojournals.org iovs.arvojournals.org
    Mutations in ABCR (ABCA4) in Patients with Stargardt Macular Degeneration or Cone-Rod Degeneration
    1
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    iovs.arvojournals.org/article.aspx
  160. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    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
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3827063/
  161. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10454646/
  162. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging in ABCA4-Related Retinopathy
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6927733/
  163. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5110240/
  164. www.dovepress.com www.dovepress.com
    Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report
    1
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    dovepress.com/stargardt-disease-due-to-an-intronic-mutation-in-the-abca4-a-case-repo-peer-reviewed-fulltext-article-IMCRJ
  165. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8948157/
  166. jamanetwork.com jamanetwork.com
    ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
    1
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    jamanetwork.com/journals/jamaophthalmology/fullarticle/415436
  167. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional Analysis and Classification of Homozygous and Hypomorphic ABCA4 Variants Associated with Stargardt Macular Degeneration
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7755071/
  168. jamanetwork.com jamanetwork.com
    Molecular testing for hereditary retinal disease as part of clinical care
    1
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    jamanetwork.com/journals/jamaophthalmology/fullarticle/817055
  169. Jul 2026
  170. www.sciencedirect.com www.sciencedirect.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    1
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    sciencedirect.com/science/article/pii/S0002929717300137
  171. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8948157/
  172. jamanetwork.com jamanetwork.com
    ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
    1
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    jamanetwork.com/journals/jamaophthalmology/fullarticle/415436
  173. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional Analysis and Classification of Homozygous and Hypomorphic ABCA4 Variants Associated with Stargardt Macular Degeneration
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7755071/
  174. jamanetwork.com jamanetwork.com
    Molecular testing for hereditary retinal disease as part of clinical care
    1
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    jamanetwork.com/journals/jamaophthalmology/fullarticle/817055
  175. Jan 2020
  176. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4589950/
  177. Sep 2019
  178. reader.elsevier.com reader.elsevier.com
    Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families
    1
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    reader.elsevier.com/reader/sd/pii/S0031302516305153
  179. Feb 2019
  180. www.sciencedirect.com www.sciencedirect.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    1
    1. courtrae 13 Feb 2019
      Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

      PMID: 28132690

      Gene: EXTL3

      Disease: Neuro-immuno-skeletal Dysplasia Syndrome

      MonDO: 0010668

      Inheritance Pattern: autosomal-recessive (maybe, check me on this, found 1st paragraph of results, but was unclear)

      ClinGen General EXTL3
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    sciencedirect.com/science/article/pii/S0002929717300137