| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +20 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 +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) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy 5 +6 more | |
| | | Single nucleotide variant (synonymous variant) | Distal myopathy with posterior leg and anterior hand involvement +9 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tetralogy of Fallot +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Duchenne muscular dystrophy +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Primary dilated cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary dilated cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
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