| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Netherton syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Ichthyosis linearis circumflexa +2 more | |
| | | Duplication (frameshift variant) | Ichthyosis linearis circumflexa +2 more | |
| | | Microsatellite (frameshift variant) | Netherton syndrome | |
Click to view in NCBI Gene