NPHS2

NPHS2 stomatin family member, podocin

Summary

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants382 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10607751:179,519,880T/C—benign
rs9488956071:179,519,886A/G—uncertain significance
rs8860455951:179,519,968G/T—uncertain significance
rs22746221:179,520,050T/C—benign
rs1932664991:179,520,099G/C—uncertain significance
rs22746231:179,520,108C/T—benign
rs12782429861:179,520,109G/A—uncertain significance
rs1149056101:179,520,135C/T—uncertain significance
rs14105901:179,520,151C/T—benign
rs5390429101:179,520,181C/G—uncertain significance
rs5447586161:179,520,182G/A—uncertain significance
rs14105911:179,520,254C/G—benign
rs1997533421:179,520,320A/G—likely benign
rs7709909231:179,520,330T/C—uncertain significance
rs5294446451:179,520,333T/C—uncertain significance
rs21257636831:179,520,340T/A—likely pathogenic
rs7517956981:179,520,347C/T—likely benign
rs25261414741:179,520,350A/G—likely benign
rs7550812521:179,520,356T/C—likely benign
rs7743475011:179,520,363G/A—uncertain significance
rs21257638801:179,520,374G/A—likely benign
rs7619473631:179,520,377G/A—likely benign
rs10085443961:179,520,380G/A—likely benign
rs10404793461:179,520,396T/C—uncertain significance
rs3731728601:179,520,401G/A—likely benign
rs25261443081:179,520,413G/A—likely benign
rs38185871:179,520,422C/T—likely benign
rs16732287911:179,520,425G/A—likely benign
rs21257644161:179,520,437A/C—likely benign
rs16732331771:179,520,442A/G—likely benign
rs7560958161:179,520,452G/A—likely benign
rs7492366591:179,520,470C/A—likely benign
rs25261477311:179,520,473A/C—likely benign
rs16732398651:179,520,477T/C—uncertain significance
rs7482031701:179,520,481G/A—likely pathogenic
rs7721770011:179,520,485G/T—uncertain significance
rs5515113691:179,520,487G/A—uncertain significance
rs12925410061:179,520,491G/T—likely pathogenic
rs7669147591:179,520,494T/A—likely benign
rs7768598681:179,520,495C/T—conflicting classifications of pathogenicity
rs7638189011:179,520,496G/Cmissense variantpathogenic
rs21257649791:179,520,500C/T—likely benign
rs14105921:179,520,506A/G—benign
rs25261504521:179,520,512A/T—likely benign
rs7751709151:179,520,512——pathogenic
rs25261506651:179,520,513G/C—uncertain significance
rs12298200341:179,520,518G/T—likely benign
rs16732533861:179,520,521T/C—likely benign
rs21257652311:179,520,522G/A—uncertain significance
rs21257652441:179,520,524C/A—likely benign
rs15533123931:179,520,526G/C—uncertain significance
rs15722557441:179,520,531T/A—pathogenic
rs16732548351:179,520,532C/A—pathogenic
rs21257653001:179,520,533A/T—likely benign
rs16732558371:179,520,537G/A—likely pathogenic
rs21257653551:179,520,542C/T—likely benign
rs7490231191:179,520,545C/T—likely benign
rs25261525391:179,520,560A/G—likely benign
rs7722971171:179,520,563C/T—likely benign
rs50057711:179,520,569C/T—likely benign
rs1995063781:179,520,570G/Amissense variantpathogenic
rs1469400711:179,520,575T/C—likely benign
rs16732645091:179,520,577C/T—conflicting classifications of pathogenicity
rs7597920521:179,520,581A/G—likely benign
rs7702466051:179,520,585A/G—uncertain significance
rs7760169421:179,520,587C/T—pathogenic
rs10317444961:179,520,588T/G—conflicting classifications of pathogenicity
rs13338223871:179,520,590G/A—likely benign
rs7614972021:179,520,595C/T—likely benign
rs21257657841:179,520,596A/G—likely benign
rs3773744691:179,520,599T/C—conflicting classifications of pathogenicity
rs1836771901:179,520,602C/A—likely benign
rs2004066761:179,520,603G/A—likely benign
rs22746241:179,520,660C/G—benign
rs168543371:179,520,715T/C—benign
rs745186761:179,520,791G/A—benign
rs22746251:179,520,844G/A—benign
rs1867997571:179,520,895C/G—likely benign
rs118083591:179,521,684T/C—benign
rs14101962741:179,521,718T/C—likely benign
rs3723031411:179,521,727G/A—conflicting classifications of pathogenicity
rs5369340831:179,521,728G/T—likely benign
rs25261907691:179,521,729A/C—likely benign
rs25261908361:179,521,730G/A—likely benign
rs1157789461:179,521,731C/T—likely benign
rs9673399261:179,521,736A/T—pathogenic
rs15533128331:179,521,737C/T—pathogenic
rs7517670841:179,521,739C/T—uncertain significance
rs743153481:179,521,740G/Amissense variantpathogenic
rs25261918121:179,521,746T/C—likely pathogenic
rs14900101411:179,521,749C/T—conflicting classifications of pathogenicity
rs2000423971:179,521,751T/C—conflicting classifications of pathogenicity
rs10575171641:179,521,752G/Astop gainedpathogenic
rs14790368671:179,521,755T/G—likely benign
rs15722626491:179,521,758G/A—likely pathogenic
rs3716643501:179,521,759C/T—likely benign
rs7807613681:179,521,760G/A—pathogenic
rs16734706431:179,521,774A/G—likely benign
rs25261930201:179,521,777C/T—likely benign
rs3750179591:179,521,789A/T—likely benign

Showing 100 of 382 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

NPHS2 — NPHS2 stomatin family member, podocin