| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Microcephaly | |
| | | Single nucleotide variant (nonsense) | Microcephaly | |
| | | Deletion (frameshift variant) | Microcephaly | |
| | | Single nucleotide variant (splice donor variant) | Microcephaly | |
| | | Microsatellite (splice acceptor variant) | Microcephaly +1 more | |
Click to view in NCBI Gene