| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense +1 more) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
Click to view in NCBI Gene