| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive congenital ichthyosis 4B | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive congenital ichthyosis 4B | |
Click to view in NCBI Gene