| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | |
| | | Single nucleotide variant (nonsense) | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | |
| | | Single nucleotide variant (missense variant) | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | |
Click to view in NCBI Gene