MEGF8
multiple EGF like domains 8
Summary
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]
Known Variants784 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs111536758 | 19:42,830,237 | A/T | — | benign |
| rs371769004 | 19:42,830,402 | C/T | — | likely benign |
| rs1029623509 | 19:42,830,422 | G/C | — | uncertain significance |
| rs1050352479 | 19:42,830,442 | C/G | — | uncertain significance |
| rs774347513 | 19:42,830,463 | C/T | — | uncertain significance |
| rs377001753 | 19:42,830,472 | G/T | — | uncertain significance |
| rs1339893627 | 19:42,830,507 | C/T | — | uncertain significance |
| rs964840099 | 19:42,830,518 | A/G | — | likely benign |
| rs973854876 | 19:42,830,519 | G/C | — | uncertain significance |
| rs2038983733 | 19:42,830,520 | G/T | — | uncertain significance |
| rs1435608858 | 19:42,830,530 | G/A | — | likely benign |
| rs778995883 | 19:42,830,567 | G/A | — | uncertain significance |
| rs2514234135 | 19:42,830,573 | C/G | — | uncertain significance |
| rs145185103 | 19:42,833,350 | G/A | downstream gene variant | — |
| rs78249686 | 19:42,837,646 | A/G | — | likely benign |
| rs10421409 | 19:42,837,656 | A/G | — | likely benign |
| rs758472569 | 19:42,837,759 | C/G | — | uncertain significance |
| rs369259465 | 19:42,837,815 | G/T | — | likely benign |
| rs370064427 | 19:42,837,830 | C/T | — | likely benign |
| rs372955721 | 19:42,837,831 | G/A | — | uncertain significance |
| rs376175890 | 19:42,837,839 | C/T | — | likely benign |
| rs200910137 | 19:42,837,847 | C/G | — | uncertain significance |
| rs570125469 | 19:42,837,850 | C/T | — | likely benign |
| rs1259070118 | 19:42,837,851 | G/C | — | likely benign |
| rs758585947 | 19:42,837,853 | G/A | — | uncertain significance |
| rs780016069 | 19:42,837,856 | G/A | — | uncertain significance |
| rs748664087 | 19:42,837,859 | C/T | — | uncertain significance |
| rs374407078 | 19:42,837,860 | G/T | — | likely benign |
| rs771715982 | 19:42,837,875 | A/G | — | likely benign |
| rs760280227 | 19:42,837,889 | G/A | — | uncertain significance |
| rs768036287 | 19:42,837,895 | C/T | — | uncertain significance |
| rs183986572 | 19:42,837,897 | C/A | — | uncertain significance |
| rs763111888 | 19:42,837,903 | G/A | — | uncertain significance |
| rs188320625 | 19:42,837,906 | G/A | missense variant | — |
| rs753271808 | 19:42,837,924 | A/G | — | uncertain significance |
| rs374212597 | 19:42,837,930 | G/A | — | likely benign |
| rs367769622 | 19:42,837,938 | C/T | — | likely benign |
| rs759286908 | 19:42,837,940 | T/C | — | likely benign |
| rs768245209 | 19:42,838,143 | C/T | — | likely benign |
| rs180788941 | 19:42,838,154 | C/T | — | likely benign |
| rs143955737 | 19:42,838,155 | G/A | — | benign |
| rs115536529 | 19:42,838,164 | G/A | — | likely benign |
| rs377093238 | 19:42,838,197 | G/A | — | likely benign |
| rs117439608 | 19:42,838,209 | C/T | — | benign |
| rs760894078 | 19:42,838,219 | C/T | — | uncertain significance |
| rs551896120 | 19:42,838,220 | G/A | — | uncertain significance |
| rs765654107 | 19:42,838,235 | C/T | — | uncertain significance |
| rs762892185 | 19:42,838,288 | G/A | — | uncertain significance |
| rs770734416 | 19:42,838,292 | C/T | — | uncertain significance |
| rs146885610 | 19:42,838,302 | G/C | — | likely benign |
| rs79719576 | 19:42,838,304 | G/A | — | uncertain significance |
| rs2514249064 | 19:42,838,313 | G/A | — | uncertain significance |
| rs760912094 | 19:42,838,326 | G/A | — | likely benign |
| rs764246520 | 19:42,838,334 | C/G | — | uncertain significance |
| rs776522130 | 19:42,838,350 | C/T | — | likely benign |
| rs73554520 | 19:42,838,417 | G/C | — | benign |
| rs751884846 | 19:42,839,182 | C/T | — | likely benign |
| rs1305476517 | 19:42,839,212 | C/T | — | uncertain significance |
| rs2147448693 | 19:42,839,223 | G/C | — | pathogenic |
| rs201881006 | 19:42,839,227 | G/A | — | uncertain significance |
| rs1351465017 | 19:42,839,238 | C/T | — | likely benign |
| rs2514251886 | 19:42,839,276 | C/T | — | likely benign |
| rs565934429 | 19:42,839,310 | C/T | — | uncertain significance |
| rs1194814670 | 19:42,839,314 | T/C | — | uncertain significance |
| rs751496800 | 19:42,839,327 | C/T | — | likely benign |
| rs201282412 | 19:42,839,328 | G/A | — | uncertain significance |
| rs370196231 | 19:42,839,358 | G/C | — | uncertain significance |
| rs374994765 | 19:42,839,363 | C/T | — | likely benign |
| rs367866745 | 19:42,839,364 | G/A | — | uncertain significance |
| rs2039109372 | 19:42,839,367 | G/T | — | likely pathogenic |
| rs772336647 | 19:42,839,370 | G/A | — | uncertain significance |
| rs761402581 | 19:42,839,378 | G/C | — | likely benign |
| rs201427842 | 19:42,839,406 | G/A | — | likely benign |
| rs372546741 | 19:42,839,443 | C/T | — | likely benign |
| rs773064133 | 19:42,839,457 | C/T | — | uncertain significance |
| rs762625035 | 19:42,839,461 | A/G | — | uncertain significance |
| rs769584545 | 19:42,839,463 | A/G | — | uncertain significance |
| rs2039111303 | 19:42,839,464 | A/G | — | uncertain significance |
| rs574819813 | 19:42,839,480 | C/T | — | likely benign |
| rs375853163 | 19:42,839,481 | G/A | — | uncertain significance |
| rs371198327 | 19:42,839,499 | G/A | — | uncertain significance |
| rs369147039 | 19:42,839,560 | G/A | — | uncertain significance |
| rs75204409 | 19:42,839,907 | C/T | — | likely benign |
| rs376248434 | 19:42,840,107 | G/A | — | uncertain significance |
| rs753588973 | 19:42,840,119 | G/A | — | uncertain significance |
| rs1298003744 | 19:42,840,143 | G/A | — | uncertain significance |
| rs535520607 | 19:42,840,153 | A/G | — | uncertain significance |
| rs369528104 | 19:42,840,155 | G/A | — | uncertain significance |
| rs373759775 | 19:42,840,172 | C/T | — | likely benign |
| rs201180083 | 19:42,840,173 | G/A | — | uncertain significance |
| rs2514254611 | 19:42,840,191 | C/T | — | likely benign |
| rs971549656 | 19:42,840,202 | C/A | — | likely benign |
| rs2514254714 | 19:42,840,218 | G/T | — | uncertain significance |
| rs750660042 | 19:42,840,240 | C/G | — | uncertain significance |
| rs2039124115 | 19:42,840,259 | A/G | — | likely benign |
| rs2514254848 | 19:42,840,264 | A/C | — | uncertain significance |
| rs539356202 | 19:42,840,268 | G/A | — | likely benign |
| rs929955230 | 19:42,840,271 | T/A | — | likely benign |
| rs372990477 | 19:42,840,278 | G/A | — | uncertain significance |
| rs757946834 | 19:42,840,282 | A/G | — | uncertain significance |
Showing 100 of 784 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.