| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +9 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene