| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 14 +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene