MYL2 Chromosome 12

Myosin light chain 2
58 variants 58 Health Risk

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What This Gene Does
This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022]
Gene Info
Gene Group
Myosin light chains, class 2
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000111245
Associated Conditions (21)
Hypertrophic cardiomyopathy 10
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Cardiomyopathy
Myopathy
myofibrillar
12
infantile-onset
with cardiomyopathy
MYL2-related disorder
Dilated cardiomyopathy 1S
Primary dilated cardiomyopathy
Sarcoma
Familial isolated restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion
Premature ventricular contraction
Death in infancy
Congenital heart disease
+1 more conditions
Key Variants
RS104894363
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
Health Risk
RS1060499882
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiomyopathy
Health Risk
RS1064796377
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar
Health Risk
RS111373423
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, MYL2-related disorder, Hypertrophic cardiomyopathy 10
Health Risk
RS112865045
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy
Health Risk
RS1177936172
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS143139258
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
Health Risk
RS1467265277
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1555258369
Conflicting classifications of pathogenicity
Familial isolated restrictive cardiomyopathy, Hypertrophic cardiomyopathy 10, Familial isolated restrictive cardiomyopathy
Health Risk
RS1566147422
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 10, Congenital myopathy with fiber type disproportion
Health Risk
RS192057022
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
Health Risk
RS193922452
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10
Health Risk
All Variants (58)
RSID Category Clinical Significance Conditions
RS104894363 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS1060499882 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS1064796377 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar
RS111373423 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, MYL2-related disorder, Hypertrophic cardiomyopathy 10
RS112865045 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy
RS1177936172 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, Cardiovascular phenotype
RS143139258 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
RS1467265277 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1555258369 Health Risk Conflicting classifications of pathogenicity Familial isolated restrictive cardiomyopathy, Hypertrophic cardiomyopathy 10, Familial isolated restrictive cardiomyopathy
RS1566147422 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10, Congenital myopathy with fiber type disproportion
RS192057022 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
RS193922452 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10
RS199474808 Health Risk Conflicting classifications of pathogenicity Premature ventricular contraction, Primary familial hypertrophic cardiomyopathy, Death in infancy
RS199474813 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar
RS201728041 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, Hypertrophic cardiomyopathy
RS371405579 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, Hypertrophic cardiomyopathy 10
RS374870836 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiovascular phenotype, Cardiomyopathy
RS375703502 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS397516399 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 10
RS397516407 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10
RS397516408 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10
RS542961456 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10
RS547860537 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, Cardiovascular phenotype
RS573898913 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy
RS727503299 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504300 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiovascular phenotype, Hypertrophic cardiomyopathy 10
RS730880938 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS730880940 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
RS730880942 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, Hypertrophic cardiomyopathy
RS730880944 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
RS730880946 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiovascular phenotype, Cardiomyopathy
RS730880948 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS749765328 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, MYL2-related disorder
RS750193844 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, MYL2-related disorder, Cardiomyopathy
RS750937792 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, Hypertrophic cardiomyopathy
RS751392310 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS754744244 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Myopathy, myofibrillar
RS763332557 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS765287559 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, Cardiovascular phenotype
RS774193307 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy, Cardiomyopathy
RS863225117 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy, Cardiovascular phenotype
RS886048959 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10
RS104894369 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 10, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1592798444 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2071647433 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy with fiber type disproportion
RS2136774043 Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS2499805953 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397516398 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS397516406 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 10
RS727503296 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
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