| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant palmoplantar keratoderma and congenital alopecia +8 more | |
| | | Deletion (frameshift variant) | Hypoplastic left heart syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant palmoplantar keratoderma and congenital alopecia +9 more | |
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