| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Myocarditis | |
| | | Single nucleotide variant (missense variant) | Woolly hair-skin fragility syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +8 more | GConflicting classifications of pathogenicity |
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