| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene. | 24602869 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. | 21551322 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. | 22115648 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. | 20505798 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. | 20433692 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. | 19273718 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. | 19574547 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | 12707239 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. | 9562578 | 1998 |