| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 1, Maroteaux type | |
| | | Single nucleotide variant (nonsense) | Acromesomelic dysplasia 1, Maroteaux type +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | NPR2, SPAG8 (T907M +1 more) | Single nucleotide variant (missense variant +1 more) | Short stature with nonspecific skeletal abnormalities +3 more | GPathogenic/Likely pathogenic |
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