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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1060775	1:179,519,880	T/C	—	benign
rs948895607	1:179,519,886	A/G	—	uncertain significance
rs886045595	1:179,519,968	G/T	—	uncertain significance
rs2274622	1:179,520,050	T/C	—	benign
rs193266499	1:179,520,099	G/C	—	uncertain significance
rs2274623	1:179,520,108	C/T	—	benign
rs1278242986	1:179,520,109	G/A	—	uncertain significance
rs114905610	1:179,520,135	C/T	—	uncertain significance
rs1410590	1:179,520,151	C/T	—	benign
rs539042910	1:179,520,181	C/G	—	uncertain significance
rs544758616	1:179,520,182	G/A	—	uncertain significance
rs1410591	1:179,520,254	C/G	—	benign
rs199753342	1:179,520,320	A/G	—	likely benign
rs770990923	1:179,520,330	T/C	—	uncertain significance
rs529444645	1:179,520,333	T/C	—	uncertain significance
rs2125763683	1:179,520,340	T/A	—	likely pathogenic
rs751795698	1:179,520,347	C/T	—	likely benign
rs2526141474	1:179,520,350	A/G	—	likely benign
rs755081252	1:179,520,356	T/C	—	likely benign
rs774347501	1:179,520,363	G/A	—	uncertain significance
rs2125763880	1:179,520,374	G/A	—	likely benign
rs761947363	1:179,520,377	G/A	—	likely benign
rs1008544396	1:179,520,380	G/A	—	likely benign
rs1040479346	1:179,520,396	T/C	—	uncertain significance
rs373172860	1:179,520,401	G/A	—	likely benign
rs2526144308	1:179,520,413	G/A	—	likely benign
rs3818587	1:179,520,422	C/T	—	likely benign
rs1673228791	1:179,520,425	G/A	—	likely benign
rs2125764416	1:179,520,437	A/C	—	likely benign
rs1673233177	1:179,520,442	A/G	—	likely benign
rs756095816	1:179,520,452	G/A	—	likely benign
rs749236659	1:179,520,470	C/A	—	likely benign
rs2526147731	1:179,520,473	A/C	—	likely benign
rs1673239865	1:179,520,477	T/C	—	uncertain significance
rs748203170	1:179,520,481	G/A	—	likely pathogenic
rs772177001	1:179,520,485	G/T	—	uncertain significance
rs551511369	1:179,520,487	G/A	—	uncertain significance
rs1292541006	1:179,520,491	G/T	—	likely pathogenic
rs766914759	1:179,520,494	T/A	—	likely benign
rs776859868	1:179,520,495	C/T	—	conflicting classifications of pathogenicity
rs763818901	1:179,520,496	G/C	missense variant	pathogenic
rs2125764979	1:179,520,500	C/T	—	likely benign
rs1410592	1:179,520,506	A/G	—	benign
rs2526150452	1:179,520,512	A/T	—	likely benign
rs775170915	1:179,520,512	—	—	pathogenic
rs2526150665	1:179,520,513	G/C	—	uncertain significance
rs1229820034	1:179,520,518	G/T	—	likely benign
rs1673253386	1:179,520,521	T/C	—	likely benign
rs2125765231	1:179,520,522	G/A	—	uncertain significance
rs2125765244	1:179,520,524	C/A	—	likely benign
rs1553312393	1:179,520,526	G/C	—	uncertain significance
rs1572255744	1:179,520,531	T/A	—	pathogenic
rs1673254835	1:179,520,532	C/A	—	pathogenic
rs2125765300	1:179,520,533	A/T	—	likely benign
rs1673255837	1:179,520,537	G/A	—	likely pathogenic
rs2125765355	1:179,520,542	C/T	—	likely benign
rs749023119	1:179,520,545	C/T	—	likely benign
rs2526152539	1:179,520,560	A/G	—	likely benign
rs772297117	1:179,520,563	C/T	—	likely benign
rs5005771	1:179,520,569	C/T	—	likely benign
rs199506378	1:179,520,570	G/A	missense variant	pathogenic
rs146940071	1:179,520,575	T/C	—	likely benign
rs1673264509	1:179,520,577	C/T	—	conflicting classifications of pathogenicity
rs759792052	1:179,520,581	A/G	—	likely benign
rs770246605	1:179,520,585	A/G	—	uncertain significance
rs776016942	1:179,520,587	C/T	—	pathogenic
rs1031744496	1:179,520,588	T/G	—	conflicting classifications of pathogenicity
rs1333822387	1:179,520,590	G/A	—	likely benign
rs761497202	1:179,520,595	C/T	—	likely benign
rs2125765784	1:179,520,596	A/G	—	likely benign
rs377374469	1:179,520,599	T/C	—	conflicting classifications of pathogenicity
rs183677190	1:179,520,602	C/A	—	likely benign
rs200406676	1:179,520,603	G/A	—	likely benign
rs2274624	1:179,520,660	C/G	—	benign
rs16854337	1:179,520,715	T/C	—	benign
rs74518676	1:179,520,791	G/A	—	benign
rs2274625	1:179,520,844	G/A	—	benign
rs186799757	1:179,520,895	C/G	—	likely benign
rs11808359	1:179,521,684	T/C	—	benign
rs1410196274	1:179,521,718	T/C	—	likely benign
rs372303141	1:179,521,727	G/A	—	conflicting classifications of pathogenicity
rs536934083	1:179,521,728	G/T	—	likely benign
rs2526190769	1:179,521,729	A/C	—	likely benign
rs2526190836	1:179,521,730	G/A	—	likely benign
rs115778946	1:179,521,731	C/T	—	likely benign
rs967339926	1:179,521,736	A/T	—	pathogenic
rs1553312833	1:179,521,737	C/T	—	pathogenic
rs751767084	1:179,521,739	C/T	—	uncertain significance
rs74315348	1:179,521,740	G/A	missense variant	pathogenic
rs2526191812	1:179,521,746	T/C	—	likely pathogenic
rs1490010141	1:179,521,749	C/T	—	conflicting classifications of pathogenicity
rs200042397	1:179,521,751	T/C	—	conflicting classifications of pathogenicity
rs1057517164	1:179,521,752	G/A	stop gained	pathogenic
rs1479036867	1:179,521,755	T/G	—	likely benign
rs1572262649	1:179,521,758	G/A	—	likely pathogenic
rs371664350	1:179,521,759	C/T	—	likely benign
rs780761368	1:179,521,760	G/A	—	pathogenic
rs1673470643	1:179,521,774	A/G	—	likely benign
rs2526193020	1:179,521,777	C/T	—	likely benign
rs375017959	1:179,521,789	A/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.