| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | KRT5-related condition +2 more | |
| | KRT5, LOC126861525 (E477K) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1C, localized +3 more | |
| | ITGB4, GALK1 (L1779P +2 more) | Single nucleotide variant (missense variant) | not specified +5 more | |
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