| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +13 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +8 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +5 more | |
| | | Duplication (frameshift variant) | not provided +6 more | |
| | | Deletion (frameshift variant) | Meckel-Gruber syndrome +3 more | |
Click to view in NCBI Gene