| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis +3 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive congenital ichthyosis 3 | |
| | | Deletion (frameshift variant) | Autosomal recessive congenital ichthyosis 3 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive congenital ichthyosis 3 | |
Click to view in NCBI Gene