Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Y386C
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MYH7

NM_000257.4:p.Y386C

Associated Papers

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

A Contemporary Review of the Genomic Associations of Coronary Artery Myocardial Bridging.

Moore P et al.

Genes, 2023

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.

Yang Z et al.

Reviews in Cardiovascular Medicine, 2022

Genetic Insights into Primary Restrictive Cardiomyopathy.

Brodehl A et al.

Journal of Clinical Medicine, 2022

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Lesurf R et al.

Npj Genomic Medicine, 2022

35288587 (PubMed )
Supplement: 41525_2022_288_MOESM2_ESM.xlsx › SpTable_1_CodingSnvIndels_CMP

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1E321G.

Ochala J et al.

Cells, 2021

Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.

Cimiotti D et al.

International Journal of Molecular Sciences, 2021

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Kelly MA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29300372 (PubMed )
Supplement: gim2017218x2.pdf

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Alamo L et al.

Elife, 2017

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B

Sudden death in an infant with angina, restrictive cardiomyopathy, and coronary artery bridging: an unusual phenotype for a β-myosin heavy chain (MYH7) sarcomeric protein mutation.

Greenway SC et al.

Circulation. Heart Failure, 2012

Genetic testing for dilated cardiomyopathy in clinical practice.

Lakdawala NK et al.

Journal of Cardiac Failure, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."