| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +5 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Leber congenital amaurosis 10 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CEP290-related condition +9 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene