| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
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