| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 7 | |
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 2A +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 7 | |
Click to view in NCBI Gene