| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Arrhythmogenic right ventricular dysplasia 8 +1 more | |
| | | Duplication (frameshift variant) | Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | |
| | | Deletion (frameshift variant) | Arrhythmogenic right ventricular dysplasia 8 | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more | GConflicting classifications of pathogenicity |
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