| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (missense variant) | Zimmermann-Laband syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Temple-Baraitser syndrome | |
| | | Single nucleotide variant (missense variant) | Zimmermann-Laband syndrome 1 | |
Click to view in NCBI Gene