| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Papillon-Lefèvre syndrome | |
| | | Single nucleotide variant (missense variant) | Periodontitis, aggressive 1 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Papillon-Lefèvre syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene