MYLK2 Chromosome 20
Myosin light chain kinase 2
Upload your DNA to see your personal genotypes for variants in MYLK2.
What This Gene Does
This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Myosin light chain kinase family
Locus Type
gene with protein product
Location
20q11.21
Ensembl
ENSG00000101306
Associated Conditions (10)
Long QT syndrome
Cardiomyopathy
Ventricular tachycardia
Hypertrophic cardiomyopathy 1
MYLK2-related disorder
hypertrophic
midventricular
digenic
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Key Variants
RS117502839
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiomyopathy, Ventricular tachycardia
Health Risk
RS121908107
Conflicting classifications of pathogenicity
Cardiomyopathy, hypertrophic, midventricular
Health Risk
RS140695242
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
Health Risk
RS142620954
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
Health Risk
RS144129296
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 1, MYLK2-related disorder, Hypertrophic cardiomyopathy 1
Health Risk
RS146497334
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
Health Risk
RS192056427
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
Health Risk
RS193922712
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy
Health Risk
RS200204126
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
Health Risk
RS202084078
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy
Health Risk
RS371807668
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
Health Risk
RS372190501
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117502839 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiomyopathy, Ventricular tachycardia |
| RS121908107 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, hypertrophic, midventricular |
| RS140695242 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS142620954 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS144129296 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, MYLK2-related disorder, Hypertrophic cardiomyopathy 1 |
| RS146497334 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS192056427 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS193922712 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy |
| RS200204126 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS202084078 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy |
| RS371807668 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS372190501 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy |
| RS374538348 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS376297935 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS397517472 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS41293104 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS560951755 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS56385445 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Left ventricular noncompaction cardiomyopathy, Cardiomyopathy |
| RS574644297 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS727503303 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS727503304 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS727503306 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 1, Cardiomyopathy |
| RS727504591 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS727505328 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746360476 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS747109352 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS750548324 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS774114072 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS777799897 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS779637525 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS794729066 | Health Risk | Conflicting classifications of pathogenicity | — |