| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 10 +10 more | |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 14 +5 more | |
Click to view in NCBI Gene