Links from PubMed
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Hypertrophic cardiomyopathy 25 +1 more | |
| | | Deletion (frameshift variant) | Hypertrophic cardiomyopathy 25 +1 more | |
| | | Single nucleotide variant (nonsense) | Primary familial hypertrophic cardiomyopathy +2 more | |
| | | Deletion (splice donor variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (nonsense) | Primary familial hypertrophic cardiomyopathy +2 more | GPathogenic/Likely pathogenic |
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