ANKLE2

ankyrin repeat and LEM domain containing 2

Summary

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

Known Variants223 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7488868012:133,303,603C/T—benign
rs1183475312:133,303,617A/T—benign
rs11620541712:133,303,711C/T—likely benign
rs76505798412:133,303,820C/T—likely benign
rs11439435912:133,303,836C/T—likely benign
rs37380966712:133,303,837G/A—likely benign
rs57655965812:133,303,841A/C—likely benign
rs54226639312:133,303,865C/T—uncertain significance
rs20039870512:133,303,884C/T—conflicting classifications of pathogenicity
rs204371884912:133,303,915T/C—likely benign
rs37591584312:133,303,964C/T—uncertain significance
rs7764674312:133,303,973C/G—benign
rs254229366412:133,303,986G/A—uncertain significance
rs37528908912:133,304,002C/A—uncertain significance
rs75577239112:133,304,033C/T—uncertain significance
rs3523592612:133,304,126G/A—benign
rs1043791212:133,304,146C/T—benign
rs86813519112:133,304,167G/A—benign
rs1043791412:133,304,173C/T—benign
rs1043791512:133,304,174A/G—benign
rs55582658912:133,304,182G/A—benign
rs7717850812:133,304,183T/C—benign
rs7678423412:133,304,187A/G—benign
rs8012109212:133,304,192C/T—benign
rs90684471612:133,304,223C/T—benign
rs1114702412:133,304,604C/T—benign
rs20074316712:133,304,630G/A—uncertain significance
rs20112708112:133,304,654C/G—likely benign
rs78117766212:133,304,666T/C—uncertain significance
rs18573949312:133,304,694C/T—likely benign
rs37588334512:133,304,731G/A—benign
rs75368011112:133,304,738G/C—likely pathogenic
rs14291380112:133,304,877G/A—likely benign
rs1087049912:133,304,891T/C—benign
rs19972676712:133,306,225T/A—likely benign
rs1231637012:133,306,237G/C—benign
rs75397627612:133,306,281G/A—uncertain significance
rs37584102712:133,306,288C/T—likely benign
rs74577591812:133,306,295C/G—uncertain significance
rs53088157812:133,306,354G/A—likely benign
rs77176466612:133,306,386T/C—uncertain significance
rs20178551812:133,306,404G/Astop gainedpathogenic
rs77833168712:133,306,456A/G—likely benign
rs20025393512:133,306,488C/A—uncertain significance
rs37120497412:133,306,512G/A—uncertain significance
rs75941499412:133,306,529T/A—uncertain significance
rs20222543512:133,306,558C/T—likely benign
rs20195783212:133,306,559G/A—likely benign
rs1078163412:133,306,589C/T—benign
rs36820405212:133,306,590G/A—likely benign
rs20145340512:133,306,593G/T—uncertain significance
rs77229913312:133,306,594G/A—likely benign
rs76285212512:133,306,612C/T—likely benign
rs78034112612:133,306,648C/T—likely benign
rs76383665512:133,306,671C/T—likely benign
rs19961719612:133,306,676G/A—likely benign
rs76394828612:133,306,683C/T—uncertain significance
rs54529058712:133,306,684G/A—likely benign
rs7890576412:133,306,710C/T—benign
rs37331589112:133,306,733G/A—uncertain significance
rs37639317312:133,306,737G/A—likely benign
rs77529438412:133,306,749C/T—uncertain significance
rs77439961112:133,306,756G/C—likely benign
rs75439193412:133,306,760G/T—likely benign
rs11413243412:133,306,762G/A—likely benign
rs76549503012:133,306,769T/A—uncertain significance
rs74948411212:133,306,770T/C—uncertain significance
rs1154575112:133,306,780A/G—benign
rs7711680012:133,306,787C/T—likely benign
rs77273122412:133,306,790T/C—uncertain significance
rs14959764512:133,306,808C/T—likely benign
rs100137355512:133,306,832G/A—uncertain significance
rs53240195812:133,306,854T/G—likely benign
rs6067688812:133,306,927A/G—benign
rs6046994212:133,306,928T/C—benign
rs18596729712:133,310,784T/C—likely benign
rs11676496512:133,310,826G/A—likely benign
rs796963312:133,310,887C/T—benign
rs7754203312:133,310,976G/A—likely benign
rs54757205612:133,310,988T/A—likely benign
rs138098225012:133,310,992G/A—pathogenic
rs140437774212:133,311,043C/T—uncertain significance
rs20133017912:133,311,055G/A—likely benign
rs136171998712:133,311,135G/T—uncertain significance
rs86322546512:133,311,145G/Cmissense variantpathogenic
rs11543399112:133,311,373T/A—benign
rs7535691512:133,311,374C/G—benign
rs11460042212:133,311,778A/G—likely benign
rs1078163612:133,311,888C/G—benign
rs1074708112:133,311,944T/C—benign
rs98688631112:133,311,994T/C—likely benign
rs133482408712:133,312,005C/T—uncertain significance
rs145619771712:133,312,014T/C—uncertain significance
rs20089870612:133,312,024C/T—likely benign
rs77453509212:133,312,036G/T—uncertain significance
rs20202954712:133,312,047A/C—uncertain significance
rs14012838312:133,312,067G/A—uncertain significance
rs76162794012:133,312,086G/A—uncertain significance
rs53433101412:133,312,093T/A—uncertain significance
rs1078163712:133,312,191T/C—benign

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.