rs1057516900
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
TG
0.700
GeneticVariation
CLINVAR
rs1057516900
NPHS2;AXDND1
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
TG
0.700
GeneticVariation
CLINVAR
rs1553316611
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
TC
0.700
GeneticVariation
CLINVAR
rs1553316611
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
TC
0.700
GeneticVariation
CLINVAR
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
26138234
2015
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
23645318
2013
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.
12464671
2002
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.
25599733
2015
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
20947785
2011
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
20798252
2010
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
NPHS2 variation in focal and segmental glomerulosclerosis.
18823551
2008
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation.
24509478
2014
rs61747728
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
Idiopathic Nephrotic Syndrome
T
0.810
GeneticVariation
CLINVAR
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.
19145239
2009
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
23645318
2013
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
GeneticVariation
CLINVAR
Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.
21171529
2010
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
24856380
2014
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
GeneticVariation
CLINVAR
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
11805166
2002
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
18216321
2008
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
23242530
2013
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
11805166
2002
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
22578956
2012
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.
21171529
2010
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
GeneticVariation
CLINVAR
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
23242530
2013
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
17899208
2007
rs200482683
NPHS2;AXDND1
Idiopathic Nephrotic Syndrome
T
0.800
CausalMutation
CLINVAR
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
24742477
2014