| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Macrocephaly +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +14 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormal facial shape +3 more | |
Click to view in NCBI Gene