| | LOC130059960, LOC130059961 +224 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | 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 | |
| | LOC130060025, LOC130060026 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Deletion (stop lost +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 13 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 13 +1 more | GConflicting classifications of pathogenicity |
| | | 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 (nonsense) | Retinitis pigmentosa 13 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 13 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 13 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift 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 (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | | 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) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 13 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | 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 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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) | Retinitis pigmentosa 13 | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |