| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (nonsense) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant) | Alstrom syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Alstrom syndrome +1 more | |
Click to view in NCBI Gene