| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Deletion | Bardet-Biedl syndrome | |
Click to view in NCBI Gene