| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 15 +3 more | |
| | | Deletion (inframe_deletion +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene