Links from PubMed
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | |
| | | Single nucleotide variant (missense variant +1 more) | Primary familial hypertrophic cardiomyopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | ACTN2-related disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy 4 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1W +3 more | |
| | | Single nucleotide variant (intron variant +1 more) | Cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
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