| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | PLEC-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene