EXOC6B
exocyst complex component 6B
Summary
This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]
Known Variants220 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs188707447 | 2:72,406,471 | T/C | — | likely benign |
| rs779524884 | 2:72,406,472 | G/A | — | uncertain significance |
| rs373699906 | 2:72,406,535 | G/A | — | uncertain significance |
| rs1244736463 | 2:72,406,547 | G/A | — | uncertain significance |
| rs776655248 | 2:72,406,557 | A/G | — | likely benign |
| rs1677947977 | 2:72,406,560 | C/T | — | uncertain significance |
| rs1180692924 | 2:72,406,564 | T/C | — | uncertain significance |
| rs2466370942 | 2:72,410,035 | C/A | — | likely pathogenic |
| rs1004863019 | 2:72,410,042 | G/A | — | likely benign |
| rs141623406 | 2:72,411,187 | T/C | — | benign |
| rs377522391 | 2:72,411,189 | G/A | — | likely benign |
| rs189615828 | 2:72,411,196 | G/C | — | likely benign |
| rs895049059 | 2:72,411,202 | A/T | — | uncertain significance |
| rs143694876 | 2:72,411,224 | A/G | — | likely benign |
| rs764900952 | 2:72,411,239 | C/T | — | likely benign |
| rs751480355 | 2:72,411,241 | G/A | — | uncertain significance |
| rs2466380633 | 2:72,411,288 | C/A | — | uncertain significance |
| rs1237777829 | 2:72,411,333 | C/A | — | likely benign |
| rs13423761 | 2:72,440,777 | C/A | intron variant | — |
| rs578193130 | 2:72,478,814 | A/G | — | — |
| rs6709233 | 2:72,482,572 | G/C | intron variant | — |
| rs10193543 | 2:72,483,329 | T/G | intron variant | — |
| rs56045434 | 2:72,500,685 | G/C | intron variant | — |
| rs577958359 | 2:72,562,056 | A/C | — | likely benign |
| rs768719624 | 2:72,562,067 | A/G | — | likely benign |
| rs1458516389 | 2:72,562,073 | T/C | — | uncertain significance |
| rs1688604578 | 2:72,562,076 | T/C | — | uncertain significance |
| rs746903471 | 2:72,562,085 | G/A | — | likely benign |
| rs375284555 | 2:72,562,106 | C/T | — | benign |
| rs2467023815 | 2:72,562,113 | T/C | — | uncertain significance |
| rs770505617 | 2:72,562,130 | C/T | — | likely benign |
| rs775955093 | 2:72,562,131 | G/A | — | uncertain significance |
| rs763683533 | 2:72,562,136 | G/A | — | likely benign |
| rs138296890 | 2:72,572,735 | T/C | intron variant | — |
| rs763505490 | 2:72,603,197 | G/A | — | — |
| rs778934823 | 2:72,606,839 | G/A | — | likely benign |
| rs375784776 | 2:72,606,841 | G/A | — | likely benign |
| rs775483318 | 2:72,606,867 | C/G | — | uncertain significance |
| rs761330778 | 2:72,606,895 | T/C | — | likely benign |
| rs761229954 | 2:72,606,914 | C/T | — | uncertain significance |
| rs1448539943 | 2:72,606,979 | C/T | — | likely benign |
| rs779061450 | 2:72,606,980 | G/A | — | uncertain significance |
| rs375251270 | 2:72,607,007 | A/G | — | benign |
| rs768586480 | 2:72,607,010 | A/G | — | likely benign |
| rs773989566 | 2:72,607,011 | G/T | — | likely benign |
| rs1479125307 | 2:72,607,012 | A/G | — | likely benign |
| rs1020463995 | 2:72,692,259 | T/C | — | likely benign |
| rs1370574077 | 2:72,692,280 | G/A | — | likely benign |
| rs1347908774 | 2:72,692,304 | T/A | — | likely benign |
| rs2467581134 | 2:72,692,319 | A/G | — | likely benign |
| rs368898383 | 2:72,692,321 | G/C | — | uncertain significance |
| rs980649983 | 2:72,692,332 | A/G | — | uncertain significance |
| rs373128726 | 2:72,692,355 | A/G | — | likely benign |
| rs375651427 | 2:72,692,362 | T/G | — | uncertain significance |
| rs1558694827 | 2:72,692,366 | C/A | — | uncertain significance |
| rs200863408 | 2:72,692,371 | T/C | — | uncertain significance |
| rs766196583 | 2:72,692,376 | G/A | — | likely benign |
| rs1199641904 | 2:72,692,421 | C/T | — | likely benign |
| rs1553417206 | 2:72,692,470 | T/C | — | conflicting classifications of pathogenicity |
| rs2467657644 | 2:72,707,767 | A/G | — | uncertain significance |
| rs767684988 | 2:72,707,774 | T/C | — | uncertain significance |
| rs114450435 | 2:72,707,784 | T/A | — | benign |
| rs202137050 | 2:72,707,795 | G/A | — | uncertain significance |
| rs200227562 | 2:72,707,872 | T/C | — | conflicting classifications of pathogenicity |
| rs653220 | 2:72,707,874 | A/G | — | benign |
| rs369948710 | 2:72,707,883 | G/A | — | benign |
| rs768432735 | 2:72,707,895 | C/T | — | benign |
| rs376661903 | 2:72,707,897 | C/T | — | likely benign |
| rs2467659125 | 2:72,707,899 | T/C | — | likely benign |
| rs181182127 | 2:72,719,441 | G/C | — | benign |
| rs199830469 | 2:72,719,460 | A/G | — | uncertain significance |
| rs779595686 | 2:72,719,463 | T/C | — | uncertain significance |
| rs368087383 | 2:72,719,479 | C/G | — | uncertain significance |
| rs761028292 | 2:72,719,496 | C/T | — | uncertain significance |
| rs762765789 | 2:72,719,503 | T/A | — | uncertain significance |
| rs763977053 | 2:72,719,504 | C/G | — | uncertain significance |
| rs767304107 | 2:72,719,524 | T/C | — | uncertain significance |
| rs75459335 | 2:72,719,531 | C/A | — | benign |
| rs755839202 | 2:72,719,532 | C/T | — | uncertain significance |
| rs529215564 | 2:72,719,568 | A/G | — | likely benign |
| rs1699984621 | 2:72,722,556 | T/G | — | uncertain significance |
| rs202201931 | 2:72,722,565 | T/C | — | uncertain significance |
| rs372560536 | 2:72,722,589 | C/G | — | uncertain significance |
| rs2105562301 | 2:72,722,591 | A/G | — | likely benign |
| rs148711200 | 2:72,722,593 | C/T | — | uncertain significance |
| rs374318382 | 2:72,722,594 | G/A | — | likely benign |
| rs1409482292 | 2:72,722,622 | A/G | — | uncertain significance |
| rs773048433 | 2:72,722,626 | T/C | — | uncertain significance |
| rs770640090 | 2:72,722,629 | G/A | — | uncertain significance |
| rs567034443 | 2:72,722,648 | A/C | — | uncertain significance |
| rs764814187 | 2:72,722,660 | A/G | — | likely benign |
| rs2467736822 | 2:72,723,593 | T/C | — | uncertain significance |
| rs373678197 | 2:72,723,596 | A/G | — | likely benign |
| rs139290455 | 2:72,723,597 | T/G | — | uncertain significance |
| rs374459655 | 2:72,723,610 | G/A | — | likely benign |
| rs2467737048 | 2:72,723,615 | G/A | — | pathogenic |
| rs1400711134 | 2:72,723,617 | C/T | — | uncertain significance |
| rs754067186 | 2:72,723,652 | T/G | — | likely benign |
| rs746947544 | 2:72,723,663 | T/C | — | uncertain significance |
| rs2467737665 | 2:72,723,675 | A/G | — | uncertain significance |
Showing 100 of 220 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.