| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 10 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome +5 more | |
Click to view in NCBI Gene