| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PLEC, LOC130001334 (S399L +6 more) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | LOC130001334, PLEC (L396V +6 more) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | LOC130001334, PLEC (D384N +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +5 more | GConflicting classifications of pathogenicity |
| | LOC130001334, PLEC (Q382R +6 more) | Single nucleotide variant (missense variant) | not provided | |
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