AUTS2

activator of transcription and developmental regulator AUTS2

Summary

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

Known Variants841 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5351540407:69,063,659T/C—likely benign
rs734372017:69,063,900T/G—benign
rs9685433497:69,064,209A/G—likely benign
rs37352607:69,064,637G/A—benign
rs21290672947:69,064,640A/T—pathogenic
rs17922586007:69,064,641T/C—pathogenic
rs2001890777:69,064,650C/T—likely benign
rs13684946417:69,064,655C/T—conflicting classifications of pathogenicity
rs17922601957:69,064,665G/A—uncertain significance
rs17922603507:69,064,667C/G—uncertain significance
rs24840225577:69,064,679C/T—uncertain significance
rs12631382857:69,064,703C/T—uncertain significance
rs17922627777:69,064,707A/G—uncertain significance
rs9100111657:69,064,717C/T—likely benign
rs24840233017:69,064,718C/T—likely benign
rs5308670617:69,064,726G/T—likely benign
rs13590343077:69,064,728T/G—uncertain significance
rs24840236907:69,064,730G/A—uncertain significance
rs21290673687:69,064,731G/T—uncertain significance
rs17922653377:69,064,733G/A—uncertain significance
rs9342144117:69,064,745G/C—uncertain significance
rs10513545617:69,064,747C/G—likely benign
rs7524234107:69,064,751G/T—uncertain significance
rs17922697887:69,064,754G/A—uncertain significance
rs9115137627:69,064,757G/A—uncertain significance
rs13205200237:69,064,764G/A—uncertain significance
rs12543704587:69,064,765G/T—likely benign
rs9457336787:69,064,767C/T—uncertain significance
rs7775410487:69,064,768C/T—likely benign
rs7567791907:69,064,770G/A—uncertain significance
rs10414690787:69,064,773C/A—likely pathogenic
rs14755446877:69,064,781C/T—uncertain significance
rs17922742777:69,064,785C/T—uncertain significance
rs13146911987:69,064,786C/T—likely benign
rs7752257277:69,064,788C/Astop gainedpathogenic
rs7467744057:69,064,792G/C—likely benign
rs14324647627:69,064,795G/C—likely benign
rs7768161967:69,064,806A/G—likely benign
rs7501055057:69,064,824C/T—uncertain significance
rs1999458207:69,064,827C/T—conflicting classifications of pathogenicity
rs7638983247:69,064,839C/T—likely benign
rs15839137157:69,064,842C/G—conflicting classifications of pathogenicity
rs10242572957:69,064,844C/T—uncertain significance
rs7535262787:69,064,849C/T—likely benign
rs14581844937:69,064,858G/C—likely benign
rs17922820667:69,064,860G/A—uncertain significance
rs21290675627:69,064,863G/C—uncertain significance
rs10041955927:69,064,880A/G—likely benign
rs21290675717:69,064,884C/G—uncertain significance
rs15839138207:69,064,885G/T—likely benign
rs12013466367:69,064,921C/T—likely benign
rs13489398167:69,064,932C/G—uncertain significance
rs2016461737:69,064,936T/C—likely benign
rs17922857787:69,064,956G/A—uncertain significance
rs7697890607:69,064,967C/T—likely benign
rs10556206747:69,064,968C/T—likely benign
rs2003657777:69,064,969C/A—likely benign
rs1871969497:69,065,237G/A—likely benign
rs28515097:69,080,438A/Gintron variant—
rs102569437:69,084,409C/Gintron variant—
rs25334437:69,099,111A/Tintron variant—
rs28515037:69,112,980A/Gintron variant—
rs102295787:69,198,598T/Gintron variant—
rs47175207:69,205,760G/Aintron variant—
rs17877114337:69,215,882G/C—uncertain significance
rs117658867:69,238,158T/Cintron variant—
rs2106007:69,238,281G/Aintron variant—
rs1151310747:69,238,493T/Aintron variant—
rs2105937:69,244,312A/T——
rs2105917:69,247,003C/Tintron variant—
rs595854867:69,257,234G/T——
rs14514615727:69,263,637A/G—uncertain significance
rs347017877:69,264,273C/Tregulatory region variant—
rs352137897:69,268,012C/Tintron variant—
rs28658057:69,318,195A/G——
rs171409807:69,325,931A/Gintron variant—
rs126988127:69,362,580A/T——
rs8667345057:69,364,258C/T—likely benign
rs2019591907:69,364,280A/G—likely benign
rs7483528847:69,364,281G/A—benign
rs21295404577:69,364,282C/A—uncertain significance
rs7778405267:69,364,300G/A—uncertain significance
rs7494377057:69,364,307G/T—conflicting classifications of pathogenicity
rs1429571067:69,364,311C/T—likely benign
rs12886304807:69,364,313C/T—likely benign
rs7600641857:69,364,317A/T—likely benign
rs7723529257:69,364,318C/T—benign
rs1474844997:69,364,319G/A—likely benign
rs15629578097:69,364,338C/T—pathogenic
rs13507271487:69,364,339G/A—uncertain significance
rs12072744757:69,364,344G/A—uncertain significance
rs1454805477:69,364,347C/G—likely benign
rs7515183297:69,364,363C/T—uncertain significance
rs3683180297:69,364,364C/T—likely benign
rs7558519807:69,364,383A/G—conflicting classifications of pathogenicity
rs13517732477:69,364,413G/T—uncertain significance
rs9551746897:69,364,414A/G—likely benign
rs7790894427:69,364,416C/T—pathogenic
rs10647968987:69,364,424T/G—uncertain significance
rs7726822617:69,364,428C/A—uncertain significance

Showing 100 of 841 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.