| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Junctional epidermolysis bullosa gravis of Herlitz +4 more | |
| | | Single nucleotide variant (splice donor variant) | Junctional epidermolysis bullosa gravis of Herlitz +1 more | |
Click to view in NCBI Gene