| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +3 more | |
| | | Microsatellite (inframe_deletion +1 more) | Bardet-Biedl syndrome 14 +8 more | |
Click to view in NCBI Gene