LEMD3

LEM domain containing 3

Summary

This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

Known Variants537 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74786418012:65,563,371G/A—uncertain significance
rs249893706212:65,563,378T/C—uncertain significance
rs186843663012:65,563,382G/A—likely benign
rs77290318512:65,563,384C/T—uncertain significance
rs76319226712:65,563,385G/A—likely benign
rs159242358712:65,563,387C/G—uncertain significance
rs76658898712:65,563,389G/A—uncertain significance
rs147628507712:65,563,391A/G—likely benign
rs116253208212:65,563,392G/A—uncertain significance
rs77435343412:65,563,393C/T—uncertain significance
rs76801192112:65,563,396C/T—uncertain significance
rs75641490912:65,563,398G/A—uncertain significance
rs129184147112:65,563,402C/T—uncertain significance
rs135529068812:65,563,405A/T—uncertain significance
rs37328836312:65,563,415G/A—likely benign
rs147804801412:65,563,421G/A—likely benign
rs141732647812:65,563,425C/T—uncertain significance
rs37707701312:65,563,430C/G—uncertain significance
rs78096850012:65,563,432C/T—uncertain significance
rs77462676212:65,563,443C/T—uncertain significance
rs76763568112:65,563,451C/G—likely benign
rs186844422012:65,563,460C/T—likely benign
rs88604977312:65,563,462G/C—uncertain significance
rs119176161912:65,563,468T/A—uncertain significance
rs75417427012:65,563,475G/C—uncertain significance
rs132070563112:65,563,483G/A—uncertain significance
rs76609804312:65,563,486C/G—uncertain significance
rs249893753912:65,563,493C/T—likely benign
rs75215019212:65,563,502G/A—likely benign
rs75601741712:65,563,516G/C—uncertain significance
rs15021230712:65,563,538C/T—likely benign
rs53179241612:65,563,539C/G—uncertain significance
rs13882169812:65,563,541G/C—likely benign
rs249893766712:65,563,545G/T—uncertain significance
rs125483573812:65,563,546G/C—uncertain significance
rs96720685412:65,563,548G/C—uncertain significance
rs146704964512:65,563,549G/A—uncertain significance
rs77221612212:65,563,552G/A—uncertain significance
rs77557449512:65,563,554G/A—uncertain significance
rs115651218312:65,563,555G/T—uncertain significance
rs76068385512:65,563,556C/T—likely benign
rs76564579012:65,563,573G/A—uncertain significance
rs75084718712:65,563,577T/C—likely benign
rs135020544312:65,563,579A/G—uncertain significance
rs75918966212:65,563,581A/G—uncertain significance
rs92842909612:65,563,582A/G—uncertain significance
rs76708529412:65,563,588C/T—uncertain significance
rs75223447212:65,563,589G/A—likely benign
rs123870706812:65,563,596G/A—uncertain significance
rs186845308712:65,563,599A/C—uncertain significance
rs213631234412:65,563,601G/C—likely benign
rs249893785912:65,563,602G/A—uncertain significance
rs123197627012:65,563,605G/A—uncertain significance
rs186845356312:65,563,606C/T—uncertain significance
rs186845389912:65,563,609C/A—uncertain significance
rs186845425812:65,563,613G/A—likely benign
rs102689720312:65,563,614G/A—uncertain significance
rs75721196212:65,563,615G/A—uncertain significance
rs77864048012:65,563,617C/G—uncertain significance
rs74566920212:65,563,618C/T—uncertain significance
rs141178041812:65,563,629G/C—uncertain significance
rs135989396212:65,563,635G/A—uncertain significance
rs78019993612:65,563,639G/A—uncertain significance
rs249893801012:65,563,642T/C—uncertain significance
rs99177453812:65,563,644G/C—uncertain significance
rs74707922612:65,563,646G/T—likely benign
rs186845809612:65,563,653C/T—uncertain significance
rs249893803312:65,563,654C/G—uncertain significance
rs86741251212:65,563,658C/G—conflicting classifications of pathogenicity
rs94603652212:65,563,661G/A—likely benign
rs97920396012:65,563,667C/T—likely benign
rs57174227112:65,563,668C/T—conflicting classifications of pathogenicity
rs76866755412:65,563,675A/T—uncertain significance
rs144176697612:65,563,676C/T—likely benign
rs118969955412:65,563,680C/G—uncertain significance
rs186846056912:65,563,681G/A—uncertain significance
rs145811803612:65,563,682G/A—likely benign
rs116206256912:65,563,687C/T—uncertain significance
rs186846116212:65,563,690G/T—uncertain significance
rs249893814212:65,563,691G/A—likely benign
rs249893814312:65,563,694C/T—likely benign
rs147445564012:65,563,695C/T—likely benign
rs77687095012:65,563,697G/A—likely benign
rs53456050512:65,563,706C/T—likely benign
rs186846201712:65,563,711C/T—uncertain significance
rs6173659412:65,563,712C/T—benign
rs138000679312:65,563,713T/G—uncertain significance
rs186846284512:65,563,718C/G—likely benign
rs53059143212:65,563,721A/G—conflicting classifications of pathogenicity
rs88604977412:65,563,725A/G—uncertain significance
rs131505646612:65,563,728C/G—uncertain significance
rs141396468812:65,563,730C/T—likely benign
rs116546217712:65,563,739G/T—likely benign
rs89283210112:65,563,747G/A—uncertain significance
rs134806427112:65,563,749G/T—uncertain significance
rs6173659312:65,563,754C/T—benign
rs88604977512:65,563,756C/T—uncertain significance
rs120027557312:65,563,758G/T—uncertain significance
rs76719088812:65,563,759C/T—uncertain significance
rs145480029512:65,563,767G/A—uncertain significance

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

Gene information from NCBI Gene. Variant classifications from ClinVar.