| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bardet-Biedl syndrome 1 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene