| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058195, LOC130058196 +556 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | LOC130058340, LOC130058341 +925 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MAPK8IP3, MAPK8IP3-AS1 +88 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa 80 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Deletion (frameshift variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 80 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 80 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 80 +1 more | |
| | | Insertion (frameshift variant) | Saldino-Mainzer syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | Saldino-Mainzer syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | IFT140-related condition | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 80 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Duplication (frameshift variant) | See cases | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | IFT140-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 80 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Duplication (frameshift variant) | Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (synonymous variant) | IFT140-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Saldino-Mainzer syndrome | |
| | | Microsatellite (inframe_insertion) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Saldino-Mainzer syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |