| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
Click to view in NCBI Gene