CNNM2

cyclin and CBS domain divalent metal cation transport mediator 2

Summary

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants329 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1088380110:104,677,887A/C—benign
rs55595135210:104,678,128A/T—benign
rs88604666810:104,678,173G/A—uncertain significance
rs76214332610:104,678,249T/A—pathogenic
rs125795826210:104,678,252C/T—likely benign
rs213414859510:104,678,265A/G—uncertain significance
rs37058060210:104,678,284G/A—uncertain significance
rs88604666910:104,678,286C/G—uncertain significance
rs54055865310:104,678,325C/T—uncertain significance
rs20202742710:104,678,327C/T—benign
rs74925592310:104,678,332G/T—likely benign
rs74837783810:104,678,337A/T—uncertain significance
rs148072002310:104,678,349C/T—uncertain significance
rs7605723710:104,678,350G/A—benign
rs76557163610:104,678,352G/A—uncertain significance
rs213414887710:104,678,355A/G—uncertain significance
rs184550794310:104,678,357C/T—likely benign
rs75551517610:104,678,370G/T—uncertain significance
rs76592883110:104,678,371C/A—uncertain significance
rs249337224710:104,678,375G/A—likely benign
rs184551048610:104,678,380T/C—pathogenic
rs249337262010:104,678,401G/A—uncertain significance
rs74800589710:104,678,432G/A—likely benign
rs184551564510:104,678,443A/G—uncertain significance
rs88604667010:104,678,447G/A—uncertain significance
rs77782012610:104,678,474G/A—conflicting classifications of pathogenicity
rs124329423910:104,678,477G/A—likely benign
rs77085682610:104,678,495G/A—likely benign
rs76409007410:104,678,510G/A—likely benign
rs74636958810:104,678,511G/C—pathogenic
rs249337328710:104,678,522G/C—likely benign
rs184551978810:104,678,533C/G—uncertain significance
rs184552115410:104,678,569A/G—uncertain significance
rs120511188510:104,678,573C/T—likely benign
rs37541648210:104,678,579G/T—likely benign
rs14227690610:104,678,597C/T—likely benign
rs78620590910:104,678,601G/Amissense variantpathogenic
rs135788376610:104,678,607G/A—uncertain significance
rs53406117810:104,678,627G/C—likely benign
rs74599291710:104,678,648C/G—benign
rs19984976710:104,678,650C/T—conflicting classifications of pathogenicity
rs78049539910:104,678,651C/T—likely benign
rs137032592010:104,678,652G/T—uncertain significance
rs117786357910:104,678,657G/A—likely benign
rs76021789310:104,678,666G/T—likely benign
rs77066703110:104,678,667G/A—uncertain significance
rs37102839210:104,678,670A/G—conflicting classifications of pathogenicity
rs76484674710:104,678,677C/T—uncertain significance
rs184552756710:104,678,687C/T—likely benign
rs213414951310:104,678,693C/G—uncertain significance
rs37467458510:104,678,695G/A—uncertain significance
rs75739455210:104,678,696C/T—likely benign
rs36860899410:104,678,715T/A—uncertain significance
rs37121562310:104,678,720C/T—likely benign
rs249337418210:104,678,725T/C—uncertain significance
rs249337438010:104,678,788A/G—likely benign
rs77235524310:104,678,791A/G—uncertain significance
rs249337440410:104,678,794G/C—likely benign
rs11769146210:104,678,801C/T—likely benign
rs249337442410:104,678,806A/C—uncertain significance
rs18965242810:104,678,831C/A—likely benign
rs98417080210:104,678,832G/A—conflicting classifications of pathogenicity
rs159024412210:104,678,837G/T—likely benign
rs249337452210:104,678,840C/T—likely benign
rs7580085210:104,678,841G/A—likely benign
rs94009090910:104,678,846C/G—likely benign
rs14321583110:104,678,851C/T—uncertain significance
rs76730225910:104,678,858C/T—likely benign
rs75063346310:104,678,863G/C—uncertain significance
rs249337466610:104,678,867C/T—likely benign
rs127427362210:104,678,892G/T—uncertain significance
rs75400271810:104,678,894G/A—likely benign
rs77833748310:104,678,915C/T—likely benign
rs213414994210:104,678,917C/G—uncertain significance
rs249337503710:104,678,981G/A—uncertain significance
rs159024447510:104,678,990C/T—likely benign
rs89414990010:104,678,994C/T—likely benign
rs142046442810:104,678,997C/G—uncertain significance
rs118534577410:104,678,999C/T—likely benign
rs249337510610:104,679,000T/C—uncertain significance
rs249337513210:104,679,015A/T—likely benign
rs36778975010:104,679,038C/T—conflicting classifications of pathogenicity
rs14838649610:104,679,041G/T—likely benign
rs79472685810:104,679,043C/Gmissense variantpathogenic
rs249337522910:104,679,051T/G—uncertain significance
rs249337523110:104,679,053C/G—uncertain significance
rs249337523710:104,679,055G/T—uncertain significance
rs249337528310:104,679,066C/T—likely benign
rs75502080110:104,679,086C/T—uncertain significance
rs102826483010:104,679,088C/G—uncertain significance
rs75323210110:104,679,102A/G—uncertain significance
rs74742731310:104,679,125G/A—likely benign
rs75771521110:104,679,127A/G—uncertain significance
rs14027976310:104,679,140C/T—likely benign
rs184554492410:104,679,179C/G—pathogenic
rs249337567410:104,679,205A/G—uncertain significance
rs184554537810:104,679,207G/A—pathogenic
rs159024487510:104,679,212G/C—likely benign
rs249337570110:104,679,217A/G—likely pathogenic
rs249337571810:104,679,229C/T—likely pathogenic

Showing 100 of 329 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.