| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion +1 more) | Saethre-Chotzen syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | TWIST1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
Click to view in NCBI Gene