| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ichthyosis vulgaris +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Ichthyosis vulgaris +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ichthyosis vulgaris +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene