| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Mandibulofacial dysostosis-microcephaly syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Mandibulofacial dysostosis-microcephaly syndrome +2 more | |
Click to view in NCBI Gene