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