| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Schizencephaly | |
| | | Single nucleotide variant (nonsense) | Schizencephaly | |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene