| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Microcephaly | |
| | | Microsatellite (frameshift variant +1 more) | Microcephaly | |
| | | Single nucleotide variant (nonsense +1 more) | Microcephaly 5, primary, autosomal recessive | |
| | | Microsatellite (frameshift variant) | Microcephaly 5, primary, autosomal recessive +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Microcephaly 5, primary, autosomal recessive +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene