| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | |
| | | Single nucleotide variant (missense variant) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | |
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