TCTN2

tectonic family member 2

Summary

This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Known Variants537 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7567460412:124,155,368T/A—likely benign
rs1161247912:124,155,526A/G—benign
rs798006012:124,155,693G/A—benign
rs19119352212:124,155,708G/A—likely benign
rs7884656712:124,155,733C/A—likely benign
rs57572885612:124,155,773C/T—uncertain significance
rs14176840512:124,155,786G/A—conflicting classifications of pathogenicity
rs138336585812:124,155,793C/A—likely benign
rs77210706212:124,155,794T/C—uncertain significance
rs136264946412:124,155,804C/T—uncertain significance
rs124753912812:124,155,805G/A—likely benign
rs77347100412:124,155,809G/A—uncertain significance
rs254174564612:124,155,811T/G—likely benign
rs254174565012:124,155,812C/T—uncertain significance
rs94273917212:124,155,814T/G—likely benign
rs76573478912:124,155,835G/T—likely benign
rs195574665012:124,155,859G/A—pathogenic
rs14774614612:124,155,863G/T—uncertain significance
rs254174580412:124,155,870G/T—likely pathogenic
rs76715553212:124,155,876A/C—likely benign
rs37765430912:124,155,880C/T—conflicting classifications of pathogenicity
rs104724973712:124,155,884G/T—likely benign
rs213581332212:124,155,886A/C—likely benign
rs131102756912:124,156,034C/T—likely benign
rs195575005612:124,156,036C/T—likely benign
rs122355977312:124,156,038T/G—likely benign
rs213581353812:124,156,042C/T—likely benign
rs77567105112:124,156,045C/G—likely benign
rs75623288412:124,156,048G/A—likely benign
rs7341629912:124,156,050C/T—benign
rs254174625412:124,156,052A/G—likely pathogenic
rs76024576412:124,156,060T/C—uncertain significance
rs100953051312:124,156,063C/G—uncertain significance
rs213581359312:124,156,065C/T—uncertain significance
rs254174631112:124,156,068T/C—uncertain significance
rs254174631812:124,156,071A/C—uncertain significance
rs75349775012:124,156,079G/T—uncertain significance
rs195575114312:124,156,083G/T—uncertain significance
rs76510182512:124,156,084G/A—uncertain significance
rs57820970412:124,156,096G/A—uncertain significance
rs148082219712:124,156,117C/G—uncertain significance
rs78132105812:124,156,118C/T—likely benign
rs95952437612:124,156,119G/A—uncertain significance
rs133534903312:124,156,141C/T—uncertain significance
rs77499414912:124,156,155G/T—pathogenic
rs37610003312:124,156,156A/C—uncertain significance
rs129531594312:124,156,159C/G—uncertain significance
rs125156647312:124,156,175C/T—likely benign
rs36940696712:124,156,178T/C—likely benign
rs1281775712:124,156,487C/T—benign
rs213581423912:124,156,583T/C—likely benign
rs91046361012:124,156,584G/A—likely benign
rs75636972212:124,156,587G/T—likely benign
rs78079222812:124,156,588G/A—likely benign
rs254174764212:124,156,591T/G—likely benign
rs75536202612:124,156,598T/G—likely benign
rs254174768712:124,156,604A/C—likely benign
rs77241784212:124,156,612C/T—uncertain significance
rs13793997812:124,156,614A/G—conflicting classifications of pathogenicity
rs76955654212:124,156,618C/T—uncertain significance
rs77509686512:124,156,619G/A—likely benign
rs119681753612:124,156,622G/T—likely benign
rs195576007912:124,156,629G/C—uncertain significance
rs7341630112:124,156,637C/T—benign
rs101579041512:124,156,645C/G—uncertain significance
rs195576050512:124,156,646G/A—likely benign
rs140020644612:124,156,647G/A—uncertain significance
rs77409589112:124,156,651A/C—uncertain significance
rs55271911312:124,156,658C/T—likely benign
rs124422934312:124,156,667G/C—likely benign
rs75613923612:124,156,670C/A—likely benign
rs13856295512:124,156,671C/T—uncertain significance
rs77525099712:124,156,679G/T—uncertain significance
rs14175291012:124,156,680G/A—likely pathogenic
rs74877278512:124,156,682A/G—uncertain significance
rs19992468712:124,156,683A/C—uncertain significance
rs115963074712:124,156,692G/A—likely benign
rs159382871412:124,156,696A/T—conflicting classifications of pathogenicity
rs713486312:124,156,762G/A—benign
rs7341810312:124,156,838G/A—benign
rs730654912:124,156,897A/G—benign
rs7341810412:124,156,914G/A—benign
rs6057737112:124,158,076G/A—benign
rs797844712:124,158,080A/G—benign
rs213581625212:124,158,147A/G—likely benign
rs254175107412:124,158,160A/G—likely pathogenic
rs87908007312:124,158,163A/G—uncertain significance
rs37166239712:124,158,165G/T—conflicting classifications of pathogenicity
rs37506599512:124,158,167G/A—likely benign
rs14625719812:124,158,176G/C—likely benign
rs122608037512:124,158,183A/G—uncertain significance
rs75772531912:124,158,195G/T—uncertain significance
rs77954797412:124,158,199T/C—uncertain significance
rs14803241512:124,158,210T/G—uncertain significance
rs77174004912:124,158,211C/G—uncertain significance
rs77301001912:124,158,219G/A—uncertain significance
rs53411356812:124,158,227T/C—conflicting classifications of pathogenicity
rs195578409412:124,158,229C/T—uncertain significance
rs36833413612:124,158,241C/A—uncertain significance
rs14878307612:124,158,243C/T—uncertain significance

Showing 100 of 537 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.