| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (nonsense) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
Click to view in NCBI Gene