| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | BBS1-related condition +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene