Source: INFERRED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
AC | 0.700 | CausalMutation | CLINVAR | Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. | 25335496 | 2015 |
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AC | 0.700 | CausalMutation | CLINVAR | Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. | 20505798 | 2010 |
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AC | 0.700 | CausalMutation | CLINVAR | Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. | 19356534 | 2009 |
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|
AC | 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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|
AC | 0.700 | CausalMutation | CLINVAR | Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. | 19574547 | 2009 |
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|
AC | 0.700 | CausalMutation | CLINVAR | The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. | 14563344 | 2003 |
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AC | 0.700 | CausalMutation | CLINVAR | Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. | 11499718 | 2001 |
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|
AC | 0.700 | CausalMutation | CLINVAR | Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. | 11499719 | 2001 |
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|
AC | 0.700 | CausalMutation | CLINVAR | A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. | 10736283 | 2000 |
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AC | 0.700 | CausalMutation | CLINVAR | Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. | 9562578 | 1998 |