Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | |
| | | Single nucleotide variant (missense variant) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | |
| | | Single nucleotide variant (missense variant) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | |
| | | Single nucleotide variant (missense variant) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | |
| | | Indel | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | |
| | | Single nucleotide variant (nonsense) | Short stature +3 more | |
| | | Single nucleotide variant (missense variant) | Short stature +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Abnormal facial shape +3 more | |
| | | Single nucleotide variant (nonsense) | Short stature +3 more | |
| | | Single nucleotide variant (missense variant) | Short stature +3 more | |
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