| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KRT5, LOC126861525 (R471C) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +3 more | |
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