| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | GALK1, ITGB4 (T1455I +1 more) | Single nucleotide variant (missense variant +1 more) | Junctional epidermolysis bullosa with pyloric atresia | |
| | ITGB4, GALK1 (L1488F +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
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