| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 16 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 7 +3 more | |
Click to view in NCBI Gene