| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 |
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|
0.710 | GeneticVariation | BEFREE | Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p.R403W and pA797T in β-myosin heavy chain gene (MYH7) and p.R92W in the cardiac troponin T gene (TNNT2)) segregate. | 26969327 | 2016 |
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|
A | 0.710 | CausalMutation | CLINVAR | Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression. | 17612745 | 2008 |
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|
A | 0.710 | CausalMutation | CLINVAR | Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. | 15856146 | 2005 |
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|
A | 0.710 | CausalMutation | CLINVAR | The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. | 10521296 | 1999 |
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|
A | 0.710 | CausalMutation | CLINVAR | Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations. | 7662452 | 1995 |
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|
A | 0.710 | CausalMutation | CLINVAR | Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. | 8268932 | 1993 |
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|
A | 0.710 | CausalMutation | CLINVAR | Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. | 8254035 | 1993 |
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|
C | 0.710 | GeneticVariation | CLINVAR |