| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia +3 more | |
| | ITGA6, PDK1-AS1 (D861fs +2 more) | Insertion (frameshift variant) | Junctional epidermolysis bullosa with pyloric atresia | |
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