| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | KRT5, LOC126861525 (E477K) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | TGM5-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acral peeling skin syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1A, generalized severe +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
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