| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Duplication (frameshift variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
Click to view in NCBI Gene