| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ichthyosis vulgaris +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Ichthyosis vulgaris +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene