| | | Deletion (frameshift variant) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 5 +2 more | |
| | | Single nucleotide variant (intron variant) | Vitelliform macular dystrophy 5 +1 more | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 56 | |
| | | Insertion (intron variant) | Vitelliform macular dystrophy 5 +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 56 +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 56 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +4 more | |
| | | Microsatellite (intron variant) | Retinitis pigmentosa 56 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +5 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Retinitis pigmentosa 56 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa +1 more | |