MEGF10 Chromosome 5

Multiple EGF like domains 10
112 variants 112 Health Risk

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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
RS2479702385 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479708318 Health Risk Pathogenic Congenital myopathy 10b, mild variant, Congenital myopathy 10b
RS2479772621 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2479778910 Health Risk Pathogenic Congenital myopathy 10b, mild variant, Congenital myopathy 10b
RS2479813429 Health Risk Pathogenic Congenital myopathy 10b, mild variant, Congenital myopathy 10b
RS387907071 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS387907073 Health Risk Pathogenic Congenital myopathy 10b, mild variant, MEGF10-related myopathy
RS794726677 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS794726678 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS794726679 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS200174116 Health Risk Pathogenic/Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS387907072 Health Risk Pathogenic/Likely pathogenic MEGF10-related myopathy, Congenital myopathy 10b, mild variant
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