| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift 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 (nonsense) | 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 (synonymous variant) | not provided +2 more | |
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