| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129998021, TWIST1 (S170fs) | Duplication (frameshift variant +1 more) | Robinow-Sorauf syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Saethre-Chotzen syndrome +1 more | |
Click to view in NCBI Gene