| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TGM1, TINF2 (E281K +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
Click to view in NCBI Gene