| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 5 | |
| | | Indel (intron variant) | Autosomal recessive congenital ichthyosis 5 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 5 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 5 | |
Click to view in NCBI Gene