| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | Bardet-Biedl syndrome 10 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_indel) | Bardet-Biedl syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene