| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | 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) | ABCA4-related disorder +8 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Severe early-childhood-onset retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Usher syndrome type 2A +3 more | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 3A +10 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Usher syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Rare genetic deafness +22 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 54 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +3 more | |
| | | Duplication (frameshift variant +2 more) | Retinal dystrophy +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 41 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Patterned macular dystrophy 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 1 +2 more | |
| | | Duplication (frameshift variant +1 more) | Rare genetic deafness +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COL2A1-related disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Juvenile retinoschisis +2 more | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +3 more | |