| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Van der Woude syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Van der Woude syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Orofacial cleft 6, susceptibility to +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Van der Woude syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | IRF6-related condition +5 more | |
| | | Single nucleotide variant (intron variant) | Van der Woude syndrome 1 | |
Click to view in NCBI Gene