Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72646846
rs72646846
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Neuromuscular transmission defects in myopathies: Rare but worth searching for. 30536954

2019
dbSNP: rs45578238
rs45578238
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
dbSNP: rs45578238
rs45578238
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
dbSNP: rs59301204
rs59301204
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.710 CausalMutation CLINVAR Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 29382405

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs794728591
rs794728591
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882

2018
dbSNP: rs59301204
rs59301204
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.710 CausalMutation CLINVAR Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. 28790152

2017
dbSNP: rs59301204
rs59301204
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.710 CausalMutation CLINVAR Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy. 27886618

2017
dbSNP: rs397516881
rs397516881
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.710 CausalMutation CLINVAR Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy. 28737513

2017
dbSNP: rs794728593
rs794728593
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017
dbSNP: rs727503258
rs727503258
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503254
rs727503254
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503253
rs727503253
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR Genetic Testing in Pediatric Left Ventricular Noncompaction. 29212898

2017
dbSNP: rs727503253
rs727503253
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs606231324
rs606231324
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs57508089
rs57508089
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017
dbSNP: rs57508089
rs57508089
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. 28798025

2017
dbSNP: rs397516943
rs397516943
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516943
rs397516943
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications. 28588093

2017
dbSNP: rs397516471
rs397516471
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death. 28669108

2017
dbSNP: rs397516471
rs397516471
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy. 29367539

2017
dbSNP: rs397516355
rs397516355
TNNI3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516165
rs397516165
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516142
rs397516142
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017