| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +1 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Hypertrophic cardiomyopathy 4 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
Click to view in NCBI Gene