| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Joubert syndrome 5 +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +11 more | |
| | | Microsatellite (inframe_deletion) | Leber congenital amaurosis 10 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +9 more | |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 6 +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +14 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinitis pigmentosa | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 10 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 10 | |
Click to view in NCBI Gene