| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Deletion (inframe_deletion) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex | |
| | | Deletion (frameshift variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +3 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex | |
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