FANCB

FA complementation group B

Summary

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

Known Variants545 total

rsidPosition (GRCh37)AllelesClassClinVar
rs752613260X:14,814,956A/G—likely benign
rs1417748431X:14,814,994C/T—uncertain significance
rs754257299X:14,815,032G/A—likely benign
rs148258173X:14,839,840C/Tintergenic variant—
rs138331350X:14,860,103G/Adownstream gene variant—
rs2106412X:14,861,404T/C—benign
rs1480015600X:14,861,538T/C—uncertain significance
rs143434225X:14,861,623A/C—benign
rs187611308X:14,861,656A/G—benign
rs2375726X:14,861,675A/G—benign
rs2518945258X:14,861,692T/C—likely benign
rs771278010X:14,861,694A/G—likely benign
rs1401476507X:14,861,704T/C—likely benign
rs773885877X:14,861,706T/C—likely benign
rs2518945420X:14,861,707C/T—likely benign
rs2518945460X:14,861,713A/G—likely benign
rs770685871X:14,861,715C/T—likely benign
rs759020755X:14,861,716A/T—uncertain significance
rs2518945505X:14,861,730A/G—likely benign
rs1247789556X:14,861,739C/T—uncertain significance
rs2518945568X:14,861,743T/A—likely benign
rs767194178X:14,861,748T/C—uncertain significance
rs752337343X:14,861,749C/T—likely benign
rs760440816X:14,861,752A/G—likely benign
rs763963394X:14,861,754T/C—uncertain significance
rs2518945692X:14,861,762C/T—uncertain significance
rs757248077X:14,861,773A/T—likely benign
rs373465821X:14,861,784T/C—uncertain significance
rs201436396X:14,861,792G/T—uncertain significance
rs1601976122X:14,861,799A/C—uncertain significance
rs755077854X:14,861,802T/C—uncertain significance
rs143131218X:14,861,817T/C—likely benign
rs748392793X:14,861,830T/G—uncertain significance
rs995483698X:14,861,831C/A—uncertain significance
rs780116069X:14,861,834T/C—likely benign
rs2147386620X:14,861,836G/C—likely benign
rs2147386628X:14,861,841G/A—uncertain significance
rs1020168794X:14,861,849T/G—uncertain significance
rs2092362735X:14,861,854T/C—likely benign
rs148257882X:14,861,858T/C—likely benign
rs2518946162X:14,861,863T/C—likely benign
rs2518946178X:14,861,865A/G—likely benign
rs746293753X:14,861,872C/T—likely benign
rs2092362867X:14,861,873G/A—likely benign
rs368933083X:14,861,874C/T—likely benign
rs190579053X:14,861,875G/A—likely benign
rs1064797358X:14,861,877C/T—uncertain significance
rs778731279X:14,861,878G/C—likely benign
rs1034395123X:14,861,884A/G—likely benign
rs1374912480X:14,861,890T/C—likely benign
rs2092363086X:14,861,896G/A—conflicting classifications of pathogenicity
rs2147386876X:14,861,898T/C—uncertain significance
rs1220080049X:14,861,899C/T—likely benign
rs1340712652X:14,861,904C/T—uncertain significance
rs1463158333X:14,861,908C/T—likely benign
rs2518946514X:14,861,910T/G—likely benign
rs2518946550X:14,861,916T/C—uncertain significance
rs140363445X:14,861,927T/C—conflicting classifications of pathogenicity
rs1381627165X:14,861,929A/G—likely benign
rs1326031344X:14,861,938T/C—uncertain significance
rs2518946707X:14,861,939A/G—uncertain significance
rs776505971X:14,861,940T/C—uncertain significance
rs2092363411X:14,861,941G/A—likely benign
rs761492600X:14,861,942G/A—conflicting classifications of pathogenicity
rs765307016X:14,861,947A/C—likely benign
rs750381270X:14,861,958T/C—likely benign
rs962222970X:14,861,968T/G—likely benign
rs2518946861X:14,861,970G/A—likely benign
rs767721906X:14,861,976T/C—uncertain significance
rs2518946910X:14,861,978T/G—uncertain significance
rs1025182355X:14,861,989T/A—likely benign
rs752657026X:14,861,993A/G—likely benign
rs1187327084X:14,861,994T/C—uncertain significance
rs2092363730X:14,861,998A/G—likely benign
rs756392097X:14,862,002A/G—uncertain significance
rs777812135X:14,862,004T/C—likely benign
rs1601976539X:14,862,020C/A—uncertain significance
rs757610874X:14,862,025T/C—likely benign
rs2147387279X:14,862,028T/G—likely benign
rs779449906X:14,862,031A/G—likely benign
rs201070097X:14,862,040G/A—likely benign
rs747865842X:14,862,041A/C—conflicting classifications of pathogenicity
rs2092364017X:14,862,045A/G—uncertain significance
rs2518947363X:14,862,046G/C—uncertain significance
rs771958941X:14,862,047T/A—likely benign
rs2518947389X:14,862,048T/G—uncertain significance
rs1238527264X:14,862,050A/G—uncertain significance
rs746453967X:14,862,051T/C—uncertain significance
rs2092364122X:14,862,055G/T—likely benign
rs2518947486X:14,862,063T/C—uncertain significance
rs768405501X:14,862,074T/C—uncertain significance
rs2147387445X:14,862,076A/C—likely benign
rs2518947570X:14,862,079G/A—likely benign
rs765112491X:14,862,096T/C—uncertain significance
rs1300715683X:14,862,101T/C—uncertain significance
rs2147387583X:14,862,112A/G—likely benign
rs761121974X:14,862,117A/G—likely benign
rs6527026X:14,862,279T/C—benign
rs6527027X:14,862,289A/G—benign
rs7881195X:14,862,487T/C—benign

Showing 100 of 545 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.