Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476317
rs199476317
TPM1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs199476317
rs199476317
TPM1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy. 28600229

2017
dbSNP: rs199476317
rs199476317
TPM1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Clinically Divergent Mutation Effects on the Structure and Function of the Human Cardiac Tropomyosin Overlap. 28603979

2017
dbSNP: rs199476317
rs199476317
TPM1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies. 25548289

2015
dbSNP: rs199476317
rs199476317
TPM1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR An epidemiologic investigation of physical activity and breast cancer risk in Africa. 25242052

2014
dbSNP: rs199476317
rs199476317
TPM1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2013
dbSNP: rs199476317
rs199476317
TPM1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. 20117437

2010