| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more | GPathogenic/Likely pathogenic |
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