MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909374
rs121909374
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs121909374
rs121909374
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		G 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs121909374
rs121909374
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs121909375
rs121909375
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs121909375
rs121909375
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199865688
rs199865688
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs199865688
rs199865688
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs36211723
rs36211723
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs36211723
rs36211723
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs375675796
rs375675796
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs375882485
rs375882485
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs397514752
rs397514752
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs397514752
rs397514752
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs397515907
rs397515907
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs397516053
rs397516053
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs397516053
rs397516053
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs397516074
rs397516074
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs397516074
rs397516074
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs397516074
rs397516074
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs573916965
rs573916965
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
dbSNP: rs573916965
rs573916965
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs727503167
rs727503167
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs121909374
rs121909374
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		G 0.800 CausalMutation CLINVAR A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 27483260 2016
dbSNP: rs121909374
rs121909374
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		G 0.800 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
dbSNP: rs121909374
rs121909374
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		G 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015