ADAMTS18

ADAM metallopeptidase with thrombospondin type 1 motif 18

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]

Known Variants983 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77573815216:77,317,856G/A—likely benign
rs214454243116:77,317,862C/T—likely benign
rs147259126116:77,317,863C/T—uncertain significance
rs214454246916:77,317,871T/C—likely benign
rs76882861416:77,317,872G/A—uncertain significance
rs37230397216:77,317,883T/C—likely benign
rs119405473616:77,317,885G/A—uncertain significance
rs205519827516:77,317,889T/G—likely benign
rs6174904116:77,317,891C/T—conflicting classifications of pathogenicity
rs20217966516:77,317,892G/A—likely benign
rs205519850416:77,317,894A/C—uncertain significance
rs254355555116:77,317,907G/A—likely benign
rs254355555816:77,317,910G/C—likely benign
rs6175484316:77,317,911A/G—uncertain significance
rs123929779616:77,317,912C/G—uncertain significance
rs205519922816:77,317,922A/C—likely benign
rs205519926616:77,317,923G/A—uncertain significance
rs105736891916:77,317,924G/C—uncertain significance
rs76487231816:77,317,927C/T—uncertain significance
rs75208482716:77,317,931G/T—uncertain significance
rs14705363516:77,317,946G/A—benign
rs78082529316:77,317,949A/G—likely benign
rs6174904216:77,317,954C/T—likely benign
rs77375092016:77,317,955G/A—likely benign
rs76115042916:77,317,957A/T—uncertain significance
rs76682725516:77,317,962G/A—uncertain significance
rs26760464316:77,317,963G/A—uncertain significance
rs36809460116:77,317,966C/A—uncertain significance
rs148228014516:77,317,968T/C—uncertain significance
rs7664329316:77,317,985T/A—benign
rs37561135616:77,317,986A/T—likely benign
rs75590282416:77,323,144G/T—likely benign
rs77980379816:77,323,147T/C—likely benign
rs205531537516:77,323,152C/T—likely benign
rs205531545416:77,323,158T/C—uncertain significance
rs131593808316:77,323,160C/T—uncertain significance
rs75297688316:77,323,161C/G—uncertain significance
rs126521525516:77,323,170C/T—uncertain significance
rs76356590516:77,323,175G/T—uncertain significance
rs7591539116:77,323,186G/A—benign
rs74635089216:77,323,193T/A—uncertain significance
rs136413508516:77,323,199G/T—uncertain significance
rs77598197716:77,323,202C/T—uncertain significance
rs98955358916:77,323,203G/A—uncertain significance
rs374375016:77,323,210C/T—benign
rs14858831416:77,323,211G/A—uncertain significance
rs214455843016:77,323,212G/A—uncertain significance
rs76623086816:77,323,222A/G—likely benign
rs54450074716:77,323,230G/C—uncertain significance
rs374374916:77,323,235C/G—uncertain significance
rs205531819816:77,323,238G/C—pathogenic
rs205531831116:77,323,242A/G—uncertain significance
rs74641719316:77,323,245G/A—uncertain significance
rs75668192616:77,323,246C/T—likely benign
rs13991214416:77,323,247C/T—uncertain significance
rs14368104916:77,323,248G/A—uncertain significance
rs18787950116:77,323,257G/A—pathogenic
rs103776065416:77,323,260C/T—uncertain significance
rs77410683116:77,323,261A/G—likely benign
rs74781404016:77,323,270T/C—likely benign
rs137453020316:77,323,274C/T—uncertain significance
rs54687826316:77,323,275G/T—benign
rs77277617116:77,323,276G/C—likely benign
rs76624923516:77,323,281G/C—uncertain significance
rs254356848016:77,323,282G/C—likely benign
rs93103078316:77,323,284C/A—uncertain significance
rs120901045016:77,323,290C/T—uncertain significance
rs156745387316:77,323,292C/A—uncertain significance
rs75177533216:77,323,293C/T—uncertain significance
rs56617959516:77,323,303T/G—likely benign
rs78065744416:77,323,309C/T—likely pathogenic
rs1164355316:77,323,312C/G—benign
rs205532102416:77,323,316A/C—uncertain significance
rs143185008316:77,323,317G/C—likely benign
rs104704631816:77,323,321G/C—likely benign
rs77260776916:77,323,327G/C—likely benign
rs77743861016:77,325,147A/G—likely benign
rs20043500216:77,325,149C/T—likely benign
rs77048209016:77,325,150G/A—likely benign
rs19960147016:77,325,155G/C—likely benign
rs76276129416:77,325,159C/A—uncertain significance
rs159708136516:77,325,161A/C—likely pathogenic
rs77352385216:77,325,162C/T—likely pathogenic
rs14682999416:77,325,163C/T—uncertain significance
rs75390219316:77,325,172C/T—likely benign
rs37677036416:77,325,173G/A—uncertain significance
rs36935416216:77,325,178T/C—likely benign
rs13951632716:77,325,185C/T—pathogenic
rs89602543716:77,325,188C/T—uncertain significance
rs75690164216:77,325,196C/A—uncertain significance
rs78068755116:77,325,197A/G—uncertain significance
rs205535850316:77,325,200T/C—uncertain significance
rs126987454116:77,325,203T/C—uncertain significance
rs14559795816:77,325,210G/C—uncertain significance
rs52768498416:77,325,212T/A—uncertain significance
rs118984121016:77,325,213G/A—uncertain significance
rs20119335616:77,325,219G/T—conflicting classifications of pathogenicity
rs56923022516:77,325,227C/T—uncertain significance
rs14891090516:77,325,228G/A—uncertain significance
rs14375794316:77,325,230C/T—conflicting classifications of pathogenicity

Showing 100 of 983 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.