| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | C17orf107, C17orf114 +498 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Copy number gain | See cases | |
| | LOC130060037, LOC130060038 +291 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Microsatellite (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Duplication (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 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 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Deletion (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | | Deletion (3 prime UTR variant) | Leber congenital amaurosis +3 more | |
| | | Duplication (3 prime UTR variant) | Retinitis Pigmentosa, Recessive +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Leber congenital amaurosis +2 more | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | Leber congenital amaurosis +3 more | |
| | | Insertion (3 prime UTR variant) | Leber congenital amaurosis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 +2 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, Recessive +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Dominant +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Duplication (inframe_insertion +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | AIPL1-related disorder +1 more | |