| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Van der Woude syndrome | |
| | | Single nucleotide variant (nonsense) | Popliteal pterygium syndrome +4 more | |
| | | Deletion (frameshift variant) | Van der Woude syndrome | |
| | | Single nucleotide variant (nonsense) | Van der Woude syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofacial cleft 6, susceptibility to +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene