| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KRT5, LOC126861525 (R471C) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Koebner type +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene