| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_insertion) | not provided +3 more | |
| | | Duplication (inframe_insertion) | Epidermolytic ichthyosis +4 more | |
| | | Single nucleotide variant (missense variant) | Annular epidermolytic ichthyosis +5 more | |
| | | Single nucleotide variant (missense variant) | Epidermolytic ichthyosis +3 more | |
| | | Microsatellite (inframe_insertion) | not provided +3 more | |
Click to view in NCBI Gene