| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Increased circulating IgE level +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Ichthyosis linearis circumflexa +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene