| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Decreased body weight +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Maturity onset diabetes mellitus in young +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormality of the skeletal system +28 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene