| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.710 | CausalMutation | CLINVAR | Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. | 20031618 | 2009 |
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0.710 | GeneticVariation | BEFREE | Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). | 12473556 | 2002 |
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|
T | 0.710 | CausalMutation | CLINVAR | Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). | 12473556 | 2002 |
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|
T | 0.710 | CausalMutation | CLINVAR | The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. | 9172070 | 1997 |
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|
T | 0.710 | CausalMutation | CLINVAR | Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. | 7731997 | 1995 |
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|
T | 0.710 | CausalMutation | CLINVAR | Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. | 8281650 | 1994 |
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T | 0.710 | CausalMutation | CLINVAR | Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. | 8483915 | 1993 |