SPEF2

sperm flagellar and cilia associated 2

Summary

Involved in sperm axoneme assembly. Located in cytosol; nuclear body; and sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants216 total

rsidPosition (GRCh37)AllelesClassClinVar
rs766487535:35,617,856C/T—benign
rs9947132605:35,628,586T/C—uncertain significance
rs7739443775:35,628,594G/A—uncertain significance
rs4308285:35,628,820A/G—benign
rs7725093985:35,641,565G/T—uncertain significance
rs68975135:35,641,582C/A—benign
rs343072725:35,641,591G/A—benign
rs1459537595:35,641,593T/C—likely benign
rs1398550005:35,641,619A/G—benign
rs1490438425:35,641,648G/A—likely benign
rs787629105:35,641,668A/G—benign
rs7601148545:35,641,675A/G—uncertain significance
rs7583467645:35,641,735C/T—uncertain significance
rs1481745405:35,641,769G/A—likely benign
rs21319885:35,641,819T/C—benign
rs20359945:35,644,336T/G—benign
rs7593941885:35,644,479G/A—uncertain significance
rs3738387715:35,644,494A/G—uncertain significance
rs7453177085:35,644,516G/T—uncertain significance
rs17470726525:35,644,616G/A—likely benign
rs77064445:35,644,621T/C—benign
rs800103295:35,646,784A/G—benign
rs7782028535:35,646,788G/A—uncertain significance
rs24785484315:35,646,839A/C—uncertain significance
rs24785493825:35,646,865G/A—uncertain significance
rs3712895615:35,646,882A/T—uncertain significance
rs24785504865:35,646,887T/C—uncertain significance
rs730802185:35,649,346A/G—benign
rs169023755:35,649,388C/G—benign
rs10208922865:35,649,508G/C—uncertain significance
rs7519242655:35,649,522A/C—uncertain significance
rs800472155:35,649,665T/G—benign
rs7677974915:35,654,646T/C—uncertain significance
rs1404530985:35,654,656C/T—uncertain significance
rs9373988915:35,654,679A/G—uncertain significance
rs7717456255:35,654,684C/T—likely benign
rs22705585:35,654,711T/C—benign
rs7805361445:35,654,728T/C—uncertain significance
rs1433637075:35,654,785G/A—uncertain significance
rs3753255365:35,654,802C/G—uncertain significance
rs1422777965:35,659,130C/A—likely benign
rs7776012605:35,659,151C/T—uncertain significance
rs1397959585:35,659,152G/A—uncertain significance
rs7589933735:35,659,160C/T—uncertain significance
rs2003449555:35,659,179G/A—uncertain significance
rs24787487285:35,659,181A/G—uncertain significance
rs3706260215:35,659,187G/A—uncertain significance
rs3757881295:35,659,233A/G—uncertain significance
rs169023815:35,659,239G/A—benign
rs3714316245:35,659,272G/T—uncertain significance
rs1846068565:35,659,301C/G—uncertain significance
rs3676616245:35,659,308C/G—uncertain significance
rs92925985:35,659,355T/C—benign
rs125198645:35,667,089A/G—benign
rs7565361935:35,667,175C/G—uncertain significance
rs1122966675:35,667,226A/G—uncertain significance
rs1476217295:35,667,239T/C—likely benign
rs1395808775:35,667,268G/A—conflicting classifications of pathogenicity
rs7611832775:35,667,283A/G—uncertain significance
rs1444779505:35,667,306G/A—uncertain significance
rs3683917595:35,667,339G/A—uncertain significance
rs1149630545:35,667,511G/A—benign
rs3727674625:35,670,156G/A—uncertain significance
rs9287507225:35,670,181T/C—uncertain significance
rs1836241175:35,670,184A/G—uncertain significance
rs347085215:35,670,303A/G—benign
rs730822825:35,691,028C/G—benign
rs1150161075:35,691,183T/C—benign
rs3680468905:35,691,224A/C—uncertain significance
rs1143114145:35,691,233C/T—benign
rs1850000705:35,691,247C/T—likely benign
rs3696691035:35,691,254G/A—likely benign
rs13759755275:35,692,670A/G—pathogenic
rs17546893215:35,692,722C/T—likely pathogenic
rs77102845:35,692,775T/A—benign
rs3707989075:35,692,776G/A—uncertain significance
rs100444555:35,693,017G/A—benign
rs123323695:35,694,454A/G—benign
rs785767975:35,695,844T/C—benign
rs623518765:35,695,915A/C—benign
rs1881144745:35,697,850G/A—uncertain significance
rs776601415:35,697,881A/G—benign
rs68910965:35,697,963A/G—benign
rs730823025:35,698,025C/T—benign
rs747681725:35,698,082C/G—benign
rs68629615:35,700,372A/T—benign
rs601147395:35,700,427A/G—benign
rs64512065:35,700,598T/C—benign
rs9231047345:35,700,608G/A—uncertain significance
rs24785354205:35,700,617G/C—likely benign
rs7470581265:35,700,668G/A—uncertain significance
rs13039442725:35,700,722G/A—uncertain significance
rs7647610335:35,700,747A/G—uncertain significance
rs7543961585:35,700,753C/G—uncertain significance
rs7793539265:35,700,761A/G—uncertain significance
rs7671453725:35,700,830A/G—likely benign
rs2007829405:35,700,837G/A—uncertain significance
rs3714137045:35,700,842A/T—uncertain significance
rs2017304855:35,700,846A/G—uncertain significance
rs64512075:35,700,940G/A—benign

Showing 100 of 216 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.