| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Macrocephaly +4 more | |
| | | Single nucleotide variant (nonsense) | Global developmental delay +10 more | |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +1 more | |
| | | Copy number gain | Hypotonia +2 more | |
Click to view in NCBI Gene