| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (frameshift variant) | Thick lower lip vermilion +5 more | |
| | | Single nucleotide variant (nonsense) | Blepharophimosis +5 more | |
| | | Deletion (frameshift variant) | Thick lower lip vermilion +5 more | |
| | | Duplication (frameshift variant) | Thick lower lip vermilion +7 more | |
| | | Deletion | Long eyelashes +5 more | |
Click to view in NCBI Gene