| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. | 28615295 | 2017 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy. | 28193612 | 2017 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. | 28790153 | 2017 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. | 19574547 | 2009 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. | 18957093 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. | 18957093 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. | 16715312 | 2006 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein. | 9218526 | 1997 |