| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | BBS9-related condition +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene