| | | Deletion | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 6 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 6 +3 more | |
| | | Single nucleotide variant (intron variant) | Cone-rod dystrophy 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 13 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Optic atrophy | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy | |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Deletion (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +5 more | |
| | | Deletion (inframe_deletion) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 6 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cone-rod dystrophy 13 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cone-rod dystrophy 13 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Cone-rod dystrophy 13 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cone-rod dystrophy 13 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +2 more | |
| | | Duplication (nonsense) | Cone-rod dystrophy 13 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Leber congenital amaurosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | RPGRIP1 (E1279del +4 more) | Deletion (inframe_deletion) | not specified +3 more | |
| | | Deletion (frameshift variant) | Retinal dystrophy | |
| | | Deletion | Retinal dystrophy | |
| | | Deletion | Retinal dystrophy | |