| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Netherton syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Netherton syndrome | |
| | | Single nucleotide variant (missense variant) | Netherton syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ichthyosis linearis circumflexa +2 more | |
Click to view in NCBI Gene