Gene: MYBPC3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. 25740977

2015
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121909375
rs121909375
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs199865688
rs199865688
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs36211723
rs36211723
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs375675796
rs375675796
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs397514752
rs397514752
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs397516053
rs397516053
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs397516074
rs397516074
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs397516074
rs397516074
MYBPC3
T 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs397516074
rs397516074
MYBPC3
T 0.800 CausalMutation CLINVAR An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy. 25971843

2015
dbSNP: rs573916965
rs573916965
MYBPC3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs573916965
rs573916965
MYBPC3
T 0.800 CausalMutation CLINVAR Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. 26090888

2015
dbSNP: rs573916965
rs573916965
MYBPC3
T 0.800 CausalMutation CLINVAR Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. 25856671

2015
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 25342278

2014
dbSNP: rs397516074
rs397516074
MYBPC3
T 0.800 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs397516074
rs397516074
MYBPC3
T 0.800 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014
dbSNP: rs727503167
rs727503167
MYBPC3
T 0.800 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. 23840593

2013
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013
dbSNP: rs121909374
rs121909374
MYBPC3
G 0.800 CausalMutation CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917

2013
dbSNP: rs121909374
rs121909374
MYBPC3
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013