| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Keratosis palmoplantaris striata 2 | |
| | | Single nucleotide variant (missense variant) | Lethal acantholytic epidermolysis bullosa +8 more | |
| | | Single nucleotide variant (missense variant) | Keratosis palmoplantaris striata 2 | |
| | | Single nucleotide variant (missense variant) | Palmoplantar blistering +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cardiomyopathy +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Arrhythmogenic right ventricular dysplasia 8 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Lethal acantholytic epidermolysis bullosa +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Keratosis palmoplantaris striata 2 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more | |
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