| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (frameshift variant) | Spondylometaphyseal dysplasia - Sutcliffe type | |
| | | Duplication (frameshift variant) | Spondylometaphyseal dysplasia - Sutcliffe type | |
| | | Deletion (frameshift variant) | Spondylometaphyseal dysplasia - Sutcliffe type | |
Click to view in NCBI Gene