Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies. 25548289

2015
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population. 22462493

2013
dbSNP: rs104894503
rs104894503
TPM1
0.740 GeneticVariation BEFREE Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin. 22794249

2012
dbSNP: rs104894503
rs104894503
TPM1
0.740 GeneticVariation BEFREE The results allow us to propose a hypothesis of the pathogenetic changes caused by alpha-tropomyosin mutation Asp(175)Asn in familial hypertrophic cardiomyopathy on the basis of changes in Ca(2+) handling as a sensitive mechanism to compensate for alterations in sarcomeric structure. 15031138

2004
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene. 14734051

2004
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. 10400910

1999
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. 9822100

1998
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR The functional properties of wild type alpha-tropomyosin expressed in E. coli with an alanine-serine N-terminal leader (AS-alpha-Tm) were compared with those of AS-alpha-Tm with either of two missense mutations (Asp175Asn and Glu180Gly) shown to cause familial hypertrophic cardiomyopathy (FHC). 9245729

1997
dbSNP: rs104894503
rs104894503
TPM1
0.740 GeneticVariation BEFREE We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin gene in affected subjects from three unrelated families. 9060904

1997
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin gene in affected subjects from three unrelated families. 9060904

1997
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy. 7729014

1995
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. 8523464

1995
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995
dbSNP: rs104894503
rs104894503
TPM1
A 0.740 CausalMutation CLINVAR We demonstrate that missense mutations (Asp175Asn; Glu180Gly) in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC) linked to chromosome 15q2. 8205619

1994
dbSNP: rs104894503
rs104894503
TPM1
0.740 GeneticVariation BEFREE We demonstrate that missense mutations (Asp175Asn; Glu180Gly) in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC) linked to chromosome 15q2. 8205619

1994
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres. 27557662

2016
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2014
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. 21533915

2011
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050

2009
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice. 19651143

2009
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants. 18423659

2008