| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Deletion (nonsense +1 more) | Microcephaly 5, primary, autosomal recessive | |
Click to view in NCBI Gene