NPHS2 Chromosome 1

NPHS2 stomatin family member, podocin
158 variants 6 Drug Response 152 Health Risk

Upload your DNA to see your personal genotypes for variants in NPHS2.

What This Gene Does
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]
Gene Info
Gene Group
Stomatin family
Locus Type
gene with protein product
Location
1q25.2
Ensembl
ENSG00000116218
Associated Conditions (16)
Prednisolone response
Nephrotic syndrome
type 2
Steroid-resistant nephrotic syndrome
Focal segmental glomerulosclerosis
NPHS2-related disorder
Proteinuria
Inborn genetic diseases
Finnish congenital nephrotic syndrome
Kidney disorder
Familial idiopathic steroid-resistant nephrotic syndrome
Idiopathic nephrotic syndrome
Ovarian serous cystadenocarcinoma
Chronic kidney disease
Nephrotic range proteinuria
See cases
Key Variants
RS878853211
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853212
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853213
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853214
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853215
drug response
Prednisolone response, Prednisolone response
Drug Response
RS878853216
drug response
Prednisolone response, Prednisolone response
Drug Response
RS1031744496
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Nephrotic syndrome
Health Risk
RS1053139144
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Nephrotic syndrome
Health Risk
RS1057516414
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
Health Risk
RS1183621605
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
Health Risk
RS12123397
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
Health Risk
RS139111416
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 2, Nephrotic syndrome
Health Risk
All Variants (158)
RSID Category Clinical Significance Conditions
RS878853211 Drug Response drug response Prednisolone response, Prednisolone response
RS878853212 Drug Response drug response Prednisolone response, Prednisolone response
RS878853213 Drug Response drug response Prednisolone response, Prednisolone response
RS878853214 Drug Response drug response Prednisolone response, Prednisolone response
RS878853215 Drug Response drug response Prednisolone response, Prednisolone response
RS878853216 Drug Response drug response Prednisolone response, Prednisolone response
RS1031744496 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS1053139144 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS1057516414 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
RS1183621605 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
RS12123397 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
RS139111416 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS139290621 Health Risk Conflicting classifications of pathogenicity Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome
RS146906190 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
RS1490010141 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS1673264509 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS1673789444 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS1673966819 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS199837664 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS200042397 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS2125790095 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS369697947 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS372303141 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS377374469 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS528833893 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
RS538981059 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS553068590 Health Risk Conflicting classifications of pathogenicity —
RS61747727 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
RS61747728 Health Risk Conflicting classifications of pathogenicity Proteinuria, Nephrotic syndrome, type 2
RS74315344 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Steroid-resistant nephrotic syndrome
RS750332447 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS754520138 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS757829667 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS762248387 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS762900894 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS776859868 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS869312746 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2, Nephrotic syndrome
RS1057516395 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1057516523 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1057516747 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1057516880 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1057516900 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1158299404 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1168903863 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1173183268 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1291398331 Health Risk Likely pathogenic Familial idiopathic steroid-resistant nephrotic syndrome, Nephrotic syndrome, type 2
RS1292541006 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1342452396 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1421217117 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
RS1427261340 Health Risk Likely pathogenic Nephrotic syndrome, type 2, Nephrotic syndrome
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