| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Deletion (frameshift variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene