| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Cleft lip/palate-ectodermal dysplasia syndrome | |
| | | Deletion (frameshift variant) | Cleft lip/palate-ectodermal dysplasia syndrome | |
| | | Single nucleotide variant (nonsense) | Cleft lip/palate-ectodermal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Cleft lip/palate-ectodermal dysplasia syndrome | |
Click to view in NCBI Gene