| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 1A, generalized severe +7 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Naegeli-Franceschetti-Jadassohn syndrome +6 more | |
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