| | LOC130057806, LOC130057807 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057831, LOC130057832 +664 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057938, LOC130057939 +611 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121530602, LOC121530603 +517 more | Copy number gain | See cases | |
| | LOC129390732, LOC129390733 +500 more | Copy number gain | See cases | |
| | LOC126862240, LOC126862241 +311 more | Copy number gain | See cases | |
| | | Deletion | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Newfoundland cone-rod dystrophy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Newfoundland cone-rod dystrophy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Newfoundland cone-rod dystrophy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pigmentary retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RLBP1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Newfoundland cone-rod dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | RLBP1-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (inframe_deletion) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |