Gene: TPM1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. 29517769

2018
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. 29024827

2018
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. 28359939

2017
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation. 27177193

2016
dbSNP: rs199476316
rs199476316
TPM1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516386
rs397516386
TPM1
T 0.700 GeneticVariation CLINVAR