| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | |
| | | Single nucleotide variant (nonsense) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | |
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