| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (missense variant) | Spondylocostal dysostosis 5 | |
| | | Copy number gain | Intellectual disability, mild +8 more | |
| | | Copy number loss | Narrow mouth +2 more | |
Click to view in NCBI Gene