| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | LOC129998995, LOC129998996 +2212 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999315, LOC129999316 +342 more | Copy number loss | See cases | |
| | LOC129999254, LOC129999255 +284 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | Retinitis Pigmentosa, Dominant +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (stop lost) | Leber congenital amaurosis 11 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinal dystrophy | |
| | | 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 | |
| | | Indel (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense 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 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (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 (missense variant) | Retinal dystrophy | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 10 +1 more | |
| | | 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |