Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.K210del1
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TNNT2

NM_001276345.2:p.K210del1

Associated Papers

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

41536960 (PubMed )
Supplement: oeaf161_supplementary_data.zip › Table_S2.xlsx › Sheet1

Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.

Mora-Ayestarán N et al.

European Heart Journal, 2025

40878535 (PubMed )
Supplement: ehaf605_supplementary_data.zip › S13._Variant_classification.xlsx › Variant_classification

Clinical care of family members of patients with dilated cardiomyopathy.

Verdonschot JAJ et al.

European Heart Journal, 2025

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

An FDA-approved drug structurally and phenotypically corrects the K210del mutation in genetic cardiomyopathy models.

Wang P et al.

The Journal of Clinical Investigation, 2025

Hypertrophic Cardiomyopathy: Genes and Mechanisms.

Chen J et al.

Frontiers in Bioscience (landmark Edition), 2025

Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.

Inoue S et al.

Jacc. Basic to Translational Science, 2024

39297129 (PubMed )
Supplement: mmc1.pdf

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics.

Sun Q et al.

Bmj Paediatrics Open, 2024

38823802 (PubMed )
Supplement: bmjpo-2023-002024.draft_revisions.pdf

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Verdonschot JAJ et al.

Circulation. Genomic and Precision Medicine, 2024

38516780 (PubMed )
Supplement: hcg-17-e004416-s001.pdf

Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.

Pérez-Serra A et al.

International Journal of Molecular Sciences, 2024

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Abul-Husn NS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Genetic Basis of Childhood Cardiomyopathy.

Bagnall RD et al.

Circulation. Genomic and Precision Medicine, 2022

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.

Reichart D et al.

Science (new York, N.y.), 2022

35926050 (PubMed )
Supplement: NIHMS1835045-supplement-Supp__table_1.xlsx › disease_samples

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.

Patel AP et al.

Jama Cardiology, 2022

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP).

Reza N et al.

Cardiogenetics, 2022

Differences between genetic dilated cardiomyopathy and myocarditis in children presenting with severe cardiac dysfunction.

Gran F et al.

European Journal of Pediatrics, 2022

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.

Puckelwartz MJ et al.

Journal of the American Heart Association, 2021

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

My I et al.

Journal of Clinical Medicine, 2021

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

31771441 (PubMed )
Supplement: JAH3-8-e012993-s001.pdf

Genetic aetiologies should be considered in paediatric cases of acute heart failure presumed to be myocarditis.

Brown EE et al.

Cardiology in the Young, 2019

[Genetic testing to prevent sudden cardiac death].

Stallmeyer B et al.

Der Internist, 2018

Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.

Hazebroek MR et al.

Circulation. Heart Failure, 2018

29540472 (PubMed )
Supplement: circhf_circhf-2017-004682_supp1.pdf

Genetic Testing in Pediatric Left Ventricular Noncompaction.

Miller EM et al.

Circulation. Cardiovascular Genetics, 2017

Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.

Lin Y et al.

Circulation. Cardiovascular Genetics, 2017

Using high-resolution variant frequencies to empower clinical genome interpretation.

Whiffin N et al.

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

Genotype-specific pathogenic effects in human dilated cardiomyopathy.

Bollen IAE et al.

The Journal of Physiology, 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_S1A

Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

Golbus JR et al.

Circulation. Cardiovascular Genetics, 2014

Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

Miller EM et al.

Journal of Genetic Counseling, 2013

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.

Lakdawala NK et al.

Circulation. Cardiovascular Genetics, 2012

Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

Kindel SJ et al.

Journal of Cardiac Failure, 2012

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Norton N et al.

Circulation. Cardiovascular Genetics, 2012

[Clinical and genetic aspects of hypertrophic and dilated cardiomyopathy].

Meder B et al.

Der Internist, 2012

Genetic testing for dilated cardiomyopathy in clinical practice.

Lakdawala NK et al.

Journal of Cardiac Failure, 2012

Genetics of inherited cardiomyopathy.

Jacoby D et al.

European Heart Journal, 2012

Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Rampersaud E et al.

Progress in Pediatric Cardiology, 2011

Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation.

Morales A et al.

Clinical and Translational Science, 2010

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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."