| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Woolly hair-skin fragility syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DSP-related condition +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 8 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +7 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
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