| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | |
| | | Duplication | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | |
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