| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-Rod Dystrophy, Recessive +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-Rod Dystrophy, Recessive +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-Rod Dystrophy, Recessive +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-Rod Dystrophy, Recessive +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +4 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +11 more | |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | ABCA4-Related Disorders +10 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +6 more | |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +7 more | |
| | | Single nucleotide variant (intron variant) | not provided +10 more | |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +11 more | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Age related macular degeneration 2 +11 more | |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +4 more | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +11 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | ABCA4-Related Disorders +10 more | |
| | | Single nucleotide variant (synonymous variant) | Age related macular degeneration 2 +11 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Age related macular degeneration 2 +11 more | |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +4 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-related condition +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cone-Rod Dystrophy, Recessive +5 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +5 more | |
| | ABCA4, LOC126805793 (P1649S +1 more) | Single nucleotide variant (missense variant) | Stargardt Disease, Recessive +5 more | |
| | LOC126805793, ABCA4 (S1642I +1 more) | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Age related macular degeneration 2 +9 more | |
| | ABCA4, LOC126805793 (G1591R +1 more) | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +4 more | |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +5 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +7 more | |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cone-Rod Dystrophy, Recessive +6 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +7 more | |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +6 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +6 more | |
| | | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +4 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +6 more | |
| | | Deletion (inframe_deletion +1 more) | Cone-Rod Dystrophy, Recessive +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +6 more | GConflicting classifications of pathogenicity |
| | ABCA4, LOC126805794 (C1224G +1 more) | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +6 more | |
| | LOC126805794, ABCA4 (M1209T +1 more) | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +7 more | |
| | | Single nucleotide variant (intron variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stargardt Disease, Recessive +7 more | |
| | | Single nucleotide variant (missense variant) | Stargardt Disease, Recessive +6 more | |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | ABCA4-Related Disorders +5 more | |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +6 more | |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +7 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +5 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Macular degeneration +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +5 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-related condition +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ABCA4-Related Disorders +6 more | |
| | | Duplication (intron variant) | Cone-Rod Dystrophy, Recessive +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Cone-Rod Dystrophy, Recessive +5 more | |
| | | Insertion (intron variant) | Cone-Rod Dystrophy, Recessive +4 more | GConflicting classifications of pathogenicity |
| | | Insertion (intron variant) | Stargardt Disease, Recessive +5 more | |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +5 more | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +7 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +7 more | |
| | | Single nucleotide variant (intron variant) | Cone-Rod Dystrophy, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | ABCA4-Related Disorders +10 more | |
| | | Single nucleotide variant (synonymous variant) | ABCA4-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stargardt Disease, Recessive +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ABCA4-Related Disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cone-Rod Dystrophy, Recessive +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cone-Rod Dystrophy, Recessive +3 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Cone-Rod Dystrophy, Recessive +5 more | |
| | | Duplication (5 prime UTR variant) | Macular degeneration | |