| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +3 more) | Bardet-Biedl syndrome 9 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 9 | |
Click to view in NCBI Gene