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.