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