| | | Single nucleotide variant (nonsense) | ABCA4-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +11 more | |
| | | Single nucleotide variant (intron variant) | Macular degeneration +10 more | |
| | | Deletion (intron variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 3 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Retinitis Pigmentosa, Recessive +10 more | |
| | | Single nucleotide variant (synonymous variant) | Macular degeneration +11 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 19 +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 (nonsense) | Severe early-childhood-onset retinal dystrophy +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Indel (nonsense +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Age related macular degeneration 2 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 19 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | Cone-rod dystrophy +7 more | |
| | ABCA4, LOC126805793 (R1640W +1 more) | Single nucleotide variant (missense variant) | Stargardt disease +6 more | GPathogenic/Likely pathogenic; other |
| | ABCA4, LOC126805793 (V1589M +1 more) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | ABCA4, LOC126805793 (T1572M +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 19 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Severe early-childhood-onset retinal dystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | ABCA4, LOC126805794 (G1203E +1 more) | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +6 more | |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +6 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 19 +4 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-related disorder +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 3 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant) | ABCA4-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Stargardt disease +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 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 (missense variant) | Cone-rod dystrophy 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +3 more | |