| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Microcephaly +2 more | |
| | | Copy number gain | Short stature +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature | |
| | | Copy number gain | Microcephaly +1 more | |
Click to view in NCBI Gene