| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.800 | 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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0.800 | GeneticVariation | BEFREE | Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay. | 10900175 | 2000 |
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A | 0.800 | CausalMutation | CLINVAR | Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. | 10400910 | 1999 |
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A | 0.800 | CausalMutation | CLINVAR | A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity. | 9440709 | 1998 |
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A | 0.800 | CausalMutation | CLINVAR | In contrast, prognosis reflected genotype; near normal life expectancy is found in hypertrophic cardiomyopathy caused by the alpha-tropomyosin mutation Asp175Asn. | 9060904 | 1997 |
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0.800 | GeneticVariation | BEFREE | Two missense mutations in exon 2 (Ala63Val and Lys70Thr) and one missense mutation in exon 5 (Asp175Asn) were found in three unrelated HCM kindreds. | 8774330 | 1996 |
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A | 0.800 | CausalMutation | CLINVAR | Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. | 8523464 | 1995 |
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A | 0.800 | CausalMutation | CLINVAR | A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy. | 7729014 | 1995 |
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A | 0.800 | CausalMutation | CLINVAR | Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. | 8205619 | 1994 |