| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Junctional epidermolysis bullosa with pyloric atresia +5 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 1C, localized +3 more | |
| | ITGB4, GALK1 (L1779P +2 more) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type +4 more | |
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