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Gene entry

NPHS2

NPHS2 stomatin family member, podocin

Chromosome
1
Cytoband
1q25.2
Variants (rsID)
13

NPHS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q25.2). Its official name is “NPHS2 stomatin family member, podocin”. The reference table lists 13 variants (rsID) for this gene.

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Clinically classified variants

8 reference-table entries with clinical significance.

  • rs1410592Benignsingle nucleotide variantNephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome
  • rs12123397Conflicting interpretationssingle nucleotide variantNephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome
  • rs146906190Conflicting interpretationssingle nucleotide variantNephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome
  • rs61747727Conflicting interpretationssingle nucleotide variantNephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome
  • rs74315342Conflicting interpretationssingle nucleotide variantNephrotic syndrome, type 2|Nephrotic range proteinuria|Chronic kidney disease|Nephrotic syndrome|Steroid-resistant nephrotic syndrome
  • rs74315343Pathogenicsingle nucleotide variantNephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome|Idiopathic nephrotic syndrome
  • rs74315347Pathogenicsingle nucleotide variantNephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome
  • rs74315348Pathogenicsingle nucleotide variantNephrotic syndrome, type 2

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.