| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa, junctional 6, with pyloric atresia | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa, junctional 6, with pyloric atresia | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa, junctional 6, with pyloric atresia | |
| | | Deletion (frameshift variant) | Epidermolysis bullosa, junctional 6, with pyloric atresia | |
| | | Single nucleotide variant (splice acceptor variant) | Epidermolysis bullosa, junctional 6, with pyloric atresia | |
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