| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Epidermolysis bullosa dystrophica +1 more | |
Click to view in NCBI Gene