Source: INFERRED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | CausalMutation | CLINVAR | A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. | 25740977 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. | 25342278 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. | 25524337 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. | 24093860 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. | 23299917 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. | 22765922 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. | 22267749 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. | 21839045 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. | 21302287 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. | 21239446 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. | 20378854 | 2010 |
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G | 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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G | 0.700 | CausalMutation | CLINVAR | [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. | 19150014 | 2009 |
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G | 0.700 | CausalMutation | CLINVAR | Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. | 18533079 | 2008 |
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G | 0.700 | CausalMutation | CLINVAR | Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes. | 16831826 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. | 16858239 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. | 16199542 | 2005 |
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G | 0.700 | CausalMutation | CLINVAR | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 15519027 | 2004 |
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G | 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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G | 0.700 | CausalMutation | CLINVAR | Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. | 12117842 | 2002 |
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G | 0.700 | CausalMutation | CLINVAR | COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. | 10610770 | 1999 |
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G | 0.700 | CausalMutation | CLINVAR | Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. | 9631872 | 1998 |
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G | 0.700 | CausalMutation | CLINVAR | Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. | 9048664 | 1997 |
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G | 0.700 | CausalMutation | CLINVAR | Local mechanical oscillations of the cell surface within the range 0.2-30 Hz. | 2073894 | 1990 |