| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +3 more | |
| | | Single nucleotide variant (intron variant) | Severe early-childhood-onset retinal dystrophy +3 more | |
| | | Duplication (frameshift variant) | Severe early-childhood-onset retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 19 | |
| | | Single nucleotide variant (splice acceptor variant) | Cone-rod dystrophy 3 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 19 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 19 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 19 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Severe early-childhood-onset retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Severe early-childhood-onset retinal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 19 | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 19 | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 19 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 19 | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Deletion (intron variant) | Severe early-childhood-onset retinal dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | ABCA4, LOC126805793 (A1598G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Indel (nonsense +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Age related macular degeneration 2 +4 more | |
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy 3 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | ABCA4, LOC126805793 (V1589M +1 more) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | maculopathy | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cone-rod dystrophy 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Stargardt disease | |
| | | Single nucleotide variant (missense variant) | ABCA4-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +5 more | GConflicting classifications of pathogenicity |
| | ABCA4, LOC126805793 (T1572M +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | |
| | ABCA4, LOC126805794 (G1203E +1 more) | Single nucleotide variant (missense variant) | ABCA4-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 19 +2 more | |
| | | Single nucleotide variant (intron variant) | Cone-rod dystrophy +3 more | GPathogenic/Likely pathogenic |
| | ABCA4, LOC126805793 (H1625Y +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ABCA4-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 19 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +6 more | |
| | | Deletion (intron variant) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Severe early-childhood-onset retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Deletion (intron variant) | not specified +9 more | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (splice donor variant) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stargardt disease | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 3 +5 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 3 +11 more | |
| | | Single nucleotide variant (synonymous variant) | Macular degeneration +11 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Stargardt disease +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +11 more | |
| | | Single nucleotide variant (intron variant) | Macular degeneration +10 more | |
| | | Deletion (frameshift variant) | Severe early-childhood-onset retinal dystrophy +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +5 more | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 19 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Age related macular degeneration 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Age related macular degeneration 2 +10 more | |
| | | Single nucleotide variant (synonymous variant) | Macular degeneration +11 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +4 more | |
| | | Single nucleotide variant (nonsense) | Severe early-childhood-onset retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Age related macular degeneration 2 +5 more | |
| | | Deletion (nonsense +1 more) | Retinitis pigmentosa 19 +5 more | |
| | | Single nucleotide variant (intron variant) | Cone-rod dystrophy 3 +10 more | |
| | | Single nucleotide variant (synonymous variant) | ABCA4-related disorder +11 more | |
| | | Single nucleotide variant (intron variant) | Age related macular degeneration 2 +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 19 +11 more | |