MYL3 Chromosome 3
Myosin light chain 3
Upload your DNA to see your personal genotypes for variants in MYL3.
What This Gene Does
MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Myosin light chains, class 1
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000160808
Associated Conditions (10)
Cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1U
Hypertrophic cardiomyopathy 8
Increased left ventricular wall thickness
MYL3-related disorder
Primary familial hypertrophic cardiomyopathy
Amyloidosis
hereditary systemic 1
Key Variants
RS1041055773
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1064793448
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1282347222
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1U, Cardiovascular phenotype
Health Risk
RS138567316
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS145520567
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS147584015
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS148310342
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 8
Health Risk
RS184025552
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8
Health Risk
RS199474705
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS199474706
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy
Health Risk
RS199474707
Conflicting classifications of pathogenicity
Increased left ventricular wall thickness, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS199639940
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Amyloidosis
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1041055773 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS1064793448 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS1282347222 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1U, Cardiovascular phenotype |
| RS138567316 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS145520567 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype |
| RS147584015 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy |
| RS148310342 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 8 |
| RS184025552 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8 |
| RS199474705 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS199474706 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy |
| RS199474707 | Health Risk | Conflicting classifications of pathogenicity | Increased left ventricular wall thickness, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS199639940 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Amyloidosis |
| RS202141423 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS202234617 | Health Risk | Conflicting classifications of pathogenicity | MYL3-related disorder, MYL3-related disorder |
| RS2106910461 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy |
| RS369256548 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS377597439 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS536445081 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS567723663 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS727505197 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 8, Cardiomyopathy, Hypertrophic cardiomyopathy 8 |
| RS730880956 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 8, Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS730880960 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS730880962 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS779557153 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS780500137 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS869025485 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS869025486 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS886058582 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8, Cardiovascular phenotype |
| RS1427839320 | Health Risk | Likely pathogenic | — |
| RS730880162 | Health Risk | Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS104893748 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS199474703 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 8, Cardiomyopathy, Hypertrophic cardiomyopathy |