| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 1 | |
| | | Single nucleotide variant (missense variant) | TGM1-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 1 | |
Click to view in NCBI Gene