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 |
|---|---|---|---|
| RS751955381 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, Congenital myopathy 10b, mild variant |
| RS754070045 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS75783175 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy |
| RS762560221 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS764333715 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy |
| RS767842462 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS769248944 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS770936974 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS77203884 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS781762135 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS78847357 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS986353158 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS989552169 | Health Risk | Conflicting classifications of pathogenicity | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1013163272 | Health Risk | Likely pathogenic | MEGF10-related myopathy, Congenital myopathy 10b, mild variant |
| RS1057518682 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1057519152 | Health Risk | Likely pathogenic | — |
| RS1057523896 | Health Risk | Likely pathogenic | — |
| RS1064795948 | Health Risk | Likely pathogenic | — |
| RS1231912617 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1247305358 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1291487750 | Health Risk | Likely pathogenic | — |
| RS1298663120 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy, MEGF10-related myopathy |
| RS1454219963 | Health Risk | Likely pathogenic | — |
| RS1561599823 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1765058132 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS199750143 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy, MEGF10-related myopathy |
| RS2126967422 | Health Risk | Likely pathogenic | — |
| RS2126999837 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2127032752 | Health Risk | Likely pathogenic | — |
| RS2479650289 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2479766812 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS931073338 | Health Risk | Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy, MEGF10-related myopathy |
| RS1064793831 | Health Risk | Pathogenic | — |
| RS1215256187 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1234596293 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1279221790 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1580733016 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1763927242 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1765814665 | Health Risk | Pathogenic | — |
| RS1765909318 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1765917272 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS1766329158 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2126934788 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2126973413 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2127045645 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2479427723 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2479531357 | Health Risk | Pathogenic | Congenital myopathy 10b, mild variant, Congenital myopathy 10b |
| RS2479628644 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2479636595 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2479636665 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |