| | | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 54 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 12 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not specified +3 more | GConflicting classifications of pathogenicity |
| | GUCA1A, GUCA1ANB-GUCA1A (D144V) | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | GConflicting classifications of pathogenicity |
| | EYS, PHF3 (S2869* +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | EYS-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Retinitis pigmentosa 25 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +11 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +14 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | GConflicting classifications of pathogenicity |
| | GPHN, RDH12
+1 more (R239L) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | GPathogenic/Likely pathogenic |
| | GPHN, RDH12
+1 more (L244P) | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive optic atrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration +4 more | |
| | | Deletion (frameshift variant +1 more) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |