ADAM8
ADAM metallopeptidase domain 8
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2995300 | 10:135,076,523 | C/A | regulatory region variant | — |
| rs2230576 | 10:135,076,596 | T/C | regulatory region variant | — |
| rs200356896 | 10:135,076,676 | G/A | — | uncertain significance |
| rs561363568 | 10:135,076,677 | C/T | — | uncertain significance |
| rs2493491038 | 10:135,076,683 | C/G | — | uncertain significance |
| rs1326311340 | 10:135,076,737 | C/T | — | likely benign |
| rs750746913 | 10:135,077,239 | G/C | — | uncertain significance |
| rs61733287 | 10:135,077,251 | C/T | — | conflicting classifications of pathogenicity |
| rs202119872 | 10:135,077,256 | G/A | — | uncertain significance |
| rs376925289 | 10:135,080,872 | C/T | — | likely benign |
| rs777479740 | 10:135,080,901 | G/T | — | likely benign |
| rs1393810404 | 10:135,080,913 | G/A | — | likely benign |
| rs762579127 | 10:135,081,443 | G/A | — | uncertain significance |
| rs374536208 | 10:135,081,460 | C/T | — | likely benign |
| rs369930002 | 10:135,081,466 | G/A | — | likely benign |
| rs1846380159 | 10:135,081,483 | G/A | — | uncertain significance |
| rs377442967 | 10:135,081,539 | G/A | — | uncertain significance |
| rs753602887 | 10:135,081,561 | G/A | — | uncertain significance |
| rs774060730 | 10:135,081,593 | C/T | — | uncertain significance |
| rs866868319 | 10:135,081,611 | G/T | — | uncertain significance |
| rs375833463 | 10:135,082,279 | C/T | — | uncertain significance |
| rs758762047 | 10:135,082,349 | C/T | — | uncertain significance |
| rs201827043 | 10:135,082,366 | G/A | — | uncertain significance |
| rs1436903805 | 10:135,082,975 | G/A | — | uncertain significance |
| rs375767499 | 10:135,082,987 | G/A | — | uncertain significance |
| rs564335600 | 10:135,083,000 | C/T | — | uncertain significance |
| rs768959467 | 10:135,083,018 | G/C | — | uncertain significance |
| rs141975335 | 10:135,083,024 | G/A | — | conflicting classifications of pathogenicity |
| rs748191723 | 10:135,083,445 | C/T | — | uncertain significance |
| rs777265811 | 10:135,083,462 | C/T | — | uncertain significance |
| rs151131324 | 10:135,083,463 | G/A | — | uncertain significance |
| rs141066065 | 10:135,083,470 | C/G | — | uncertain significance |
| rs145024389 | 10:135,083,880 | C/T | — | uncertain significance |
| rs757333903 | 10:135,083,896 | C/T | — | uncertain significance |
| rs1385202338 | 10:135,083,904 | T/C | — | uncertain significance |
| rs375720962 | 10:135,083,907 | G/A | — | uncertain significance |
| rs150014036 | 10:135,083,913 | C/A | — | uncertain significance |
| rs536602734 | 10:135,083,950 | T/C | — | uncertain significance |
| rs992992980 | 10:135,083,956 | T/C | — | uncertain significance |
| rs1324783661 | 10:135,083,998 | C/T | — | uncertain significance |
| rs776626216 | 10:135,084,247 | G/A | — | likely benign |
| rs149084614 | 10:135,084,295 | C/T | — | uncertain significance |
| rs749482164 | 10:135,084,430 | C/T | — | likely benign |
| rs140754915 | 10:135,084,461 | C/T | — | likely benign |
| rs144989788 | 10:135,084,481 | C/T | — | benign |
| rs774118181 | 10:135,084,708 | C/T | — | uncertain significance |
| rs767160793 | 10:135,084,727 | C/T | — | uncertain significance |
| rs147448426 | 10:135,084,732 | G/A | — | uncertain significance |
| rs775096908 | 10:135,084,780 | C/T | — | likely benign |
| rs12257830 | 10:135,084,781 | G/A | — | benign |
| rs370221596 | 10:135,084,787 | G/A | — | uncertain significance |
| rs1362167605 | 10:135,085,040 | G/A | — | uncertain significance |
| rs949446956 | 10:135,085,084 | C/T | — | uncertain significance |
| rs1461776636 | 10:135,085,094 | C/T | — | uncertain significance |
| rs1053935083 | 10:135,085,121 | C/T | — | uncertain significance |
| rs1335632174 | 10:135,085,144 | G/A | — | uncertain significance |
| rs371368002 | 10:135,085,147 | C/T | — | likely benign |
| rs2493539183 | 10:135,085,183 | T/A | — | uncertain significance |
| rs759358604 | 10:135,085,196 | T/C | — | uncertain significance |
| rs139811915 | 10:135,085,325 | A/G | — | uncertain significance |
| rs780594353 | 10:135,085,334 | C/T | — | uncertain significance |
| rs113600124 | 10:135,085,338 | C/T | — | uncertain significance |
| rs749071796 | 10:135,085,339 | G/A | — | likely benign |
| rs377448438 | 10:135,085,349 | C/T | — | uncertain significance |
| rs371250610 | 10:135,085,422 | T/C | — | uncertain significance |
| rs1424600238 | 10:135,085,428 | A/G | — | uncertain significance |
| rs140374625 | 10:135,085,444 | G/A | — | likely benign |
| rs368130036 | 10:135,085,731 | G/A | — | uncertain significance |
| rs765162641 | 10:135,085,933 | C/T | — | uncertain significance |
| rs143050342 | 10:135,085,953 | C/T | — | likely benign |
| rs765482164 | 10:135,085,986 | T/C | — | uncertain significance |
| rs373307454 | 10:135,086,004 | G/C | — | uncertain significance |
| rs143275708 | 10:135,086,073 | T/C | missense variant | — |
| rs764099953 | 10:135,086,074 | T/G | — | uncertain significance |
| rs774520736 | 10:135,086,309 | A/C | — | uncertain significance |
| rs748395348 | 10:135,086,310 | C/T | — | uncertain significance |
| rs769098488 | 10:135,086,463 | C/T | — | uncertain significance |
| rs772705213 | 10:135,086,475 | C/T | — | uncertain significance |
| rs756309460 | 10:135,086,498 | C/T | — | uncertain significance |
| rs746594474 | 10:135,086,786 | G/A | — | uncertain significance |
| rs371853036 | 10:135,086,817 | C/T | — | uncertain significance |
| rs997159157 | 10:135,086,826 | C/T | — | uncertain significance |
| rs776867006 | 10:135,086,871 | C/T | — | uncertain significance |
| rs763073915 | 10:135,086,880 | G/A | — | uncertain significance |
| rs115473256 | 10:135,087,295 | G/A | — | benign |
| rs777540214 | 10:135,087,458 | C/A | — | likely benign |
| rs375135486 | 10:135,087,474 | G/A | — | uncertain significance |
| rs200043685 | 10:135,087,482 | G/A | — | likely benign |
| rs756639059 | 10:135,087,712 | C/T | — | uncertain significance |
| rs2493558636 | 10:135,087,718 | T/C | — | uncertain significance |
| rs775418219 | 10:135,089,019 | G/A | — | uncertain significance |
| rs185172422 | 10:135,089,031 | C/T | — | benign |
| rs2275725 | 10:135,089,035 | A/T | missense variant | — |
| rs780570140 | 10:135,089,057 | C/T | — | likely benign |
| rs765338398 | 10:135,089,085 | G/A | — | likely benign |
| rs776562973 | 10:135,090,294 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.