| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1C, localized | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Koebner type | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +3 more | |
| | | Deletion (frameshift variant) | Abnormality of the skin +2 more | |
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