| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly 26, primary, autosomal dominant +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Microcephaly 26, primary, autosomal dominant +1 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
| | | Deletion (splice acceptor variant +1 more) | Microcephaly 26, primary, autosomal dominant +1 more | |
Click to view in NCBI Gene