MEGF8 Chromosome 19
Multiple EGF like domains 8
Upload your DNA to see your personal genotypes for variants in MEGF8.
What This Gene Does
The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105429
Associated Conditions (10)
MEGF8-related disorder
Inborn genetic diseases
MEGF8-related Carpenter syndrome
Gastric cancer
Thyroid cancer
nonmedullary
1
Carpenter syndrome
Craniosynostosis syndrome
Polydactyly
Key Variants
RS114954140
Conflicting classifications of pathogenicity
MEGF8-related disorder, Inborn genetic diseases, MEGF8-related Carpenter syndrome
Health Risk
RS139859934
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome
Health Risk
RS139959427
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome
Health Risk
RS141224456
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
Health Risk
RS147068787
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome
Health Risk
RS147084460
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147216997
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related disorder
Health Risk
RS148207079
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome
Health Risk
RS148860986
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
Health Risk
RS149787596
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome
Health Risk
RS150311870
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
Health Risk
RS150607375
Conflicting classifications of pathogenicity
MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114954140 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related disorder, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS139859934 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS139959427 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS141224456 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS147068787 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS147084460 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147216997 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related disorder |
| RS148207079 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS148860986 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS149787596 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS150311870 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS150607375 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS185811990 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS201140958 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Gastric cancer, Thyroid cancer |
| RS202039332 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS367649187 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS372350131 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related disorder |
| RS373417416 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS377485395 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS536661123 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS556689644 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS746031284 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS758007485 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS975858414 | Health Risk | Conflicting classifications of pathogenicity | MEGF8-related Carpenter syndrome, Inborn genetic diseases, MEGF8-related Carpenter syndrome |
| RS1224632697 | Health Risk | Likely pathogenic | Carpenter syndrome, Carpenter syndrome |
| RS1298106714 | Health Risk | Likely pathogenic | Carpenter syndrome, Carpenter syndrome |
| RS2039109372 | Health Risk | Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2039397653 | Health Risk | Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2514272812 | Health Risk | Likely pathogenic | Carpenter syndrome, Carpenter syndrome |
| RS2514272936 | Health Risk | Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2514301445 | Health Risk | Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2514360670 | Health Risk | Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2514360725 | Health Risk | Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS761406257 | Health Risk | Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS775004286 | Health Risk | Likely pathogenic | Craniosynostosis syndrome, Polydactyly, MEGF8-related Carpenter syndrome |
| RS1164577355 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS1206116606 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS1568566883 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2147448693 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2147506322 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2514309368 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS2514360779 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS397514621 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS397515428 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS758179285 | Health Risk | Pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS1222471099 | Health Risk | Pathogenic/Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS397515427 | Health Risk | Pathogenic/Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS779375840 | Health Risk | Pathogenic/Likely pathogenic | MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |