| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Deletion (intron variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Single nucleotide variant (missense variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
Click to view in NCBI Gene