Condition: Left ventricular noncompaction


rs727504379 in ACTC1;LOC101928174 gene and Left ventricular noncompaction PMID 25201647 2014 Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

rs114638163 in MIPEP gene and Left ventricular noncompaction PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs397516190 in MIR208B;MYH7 gene and Left ventricular noncompaction PMID 23956225 2013 Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.

PMID 21127202 2011 Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

rs727503166 in MYBPC3 gene and Left ventricular noncompaction PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

rs397516089 in MYH7 gene and Left ventricular noncompaction PMID 24691700 2015 A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 21551322 2011 Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

PMID 22859017 2013 Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy.

PMID 23861362 2013 Interpreting secondary cardiac disease variants in an exome cohort.

PMID 18258667 2008 Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.

PMID 18159245 2007 Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.