| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Single nucleotide variant (splice donor variant) | Junctional epidermolysis bullosa with pyloric atresia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Deletion (frameshift variant) | Junctional epidermolysis bullosa with pyloric atresia +2 more | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa with pyloric atresia | |
| | | Deletion (frameshift variant) | Junctional epidermolysis bullosa with pyloric atresia +1 more | |
Click to view in NCBI Gene