MEGF10 Chromosome 5
Multiple EGF like domains 10
Upload your DNA to see your personal genotypes for variants in MEGF10.
What This Gene Does
This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Scavenger receptors
Locus Type
gene with protein product
Location
5q23.2
Ensembl
ENSG00000145794
Associated Conditions (6)
MEGF10-related myopathy
MEGF10-related disorder
Inborn genetic diseases
Congenital myopathy 10b
mild variant
Uveal melanoma
Key Variants
RS113794264
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS114704569
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS115184652
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy
Health Risk
RS116500162
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related disorder, Inborn genetic diseases
Health Risk
RS1188804374
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS138034219
Conflicting classifications of pathogenicity
MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy
Health Risk
RS138523651
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS139884665
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS139929890
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy
Health Risk
RS140563851
Conflicting classifications of pathogenicity
MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy
Health Risk
RS142947482
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS144450528
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113794264 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS114704569 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS115184652 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS116500162 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, Inborn genetic diseases |
| RS1188804374 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS138034219 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy |
| RS138523651 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS139884665 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS139929890 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS140563851 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy |
| RS142947482 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS144450528 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS145733370 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS145815113 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS145870973 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS146017981 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS146075981 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS146902993 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS147731088 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, Inborn genetic diseases |
| RS148349018 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS148663427 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS148814585 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS151316424 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS1580833127 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS182243856 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS182533165 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS185480820 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS186303123 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS199930517 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS200163743 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, Congenital myopathy 10b, mild variant |
| RS200703478 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy |
| RS201076330 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS201148765 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, Uveal melanoma, MEGF10-related myopathy |
| RS34649270 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS35159176 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS36061366 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS370563737 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS370850456 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS371253627 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS372378202 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS372767788 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, Inborn genetic diseases |
| RS374544972 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS375276332 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS386692223 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS528654275 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS558369303 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS73783802 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS746095070 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS748919606 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy |
| RS751813170 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |