| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated cleft palate | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Van der Woude syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Isolated cleft palate | |
Click to view in NCBI Gene