| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Cardiovascular phenotype +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Hypertrophic cardiomyopathy 2 | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 2 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +7 more | |
Click to view in NCBI Gene