Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
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 | Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. | 26914223 | 2016 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. | 25351510 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. | 24793961 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. | 23549607 | 2013 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities? | 22122802 | 2011 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 15519027 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency. | 15114369 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. | 9562578 | 1998 |