| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 14 +9 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +4 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Retinal dystrophy +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene