| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +1 more) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | |
Click to view in NCBI Gene