|
rs200482683
|
NPHS2;AXDND1
|
Steroid resistant nephrotic syndrome of childhood
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that not only the p.R229Q variant, but also the p.V290M mutation should be screened in Central and Eastern European patients with late-onset SRNS.
|
23242530 |
2013 |
|
rs200482683
|
NPHS2;AXDND1
|
Hypoalbuminemia
|
|
0.010 |
GeneticVariation |
BEFREE |
The second, a 31-year-old woman-compound heterozygous for p.V290M and p.R138Q-was first detected with hypoalbuminemia (<30 g/l) and edema at the age of 24.3 and 27.5 years, respectively.
|
23242530 |
2013 |
|
rs200482683
|
NPHS2;AXDND1
|
Steroid-resistant nephrotic syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that not only the p.R229Q variant, but also the p.V290M mutation should be screened in Central and Eastern European patients with late-onset SRNS.
|
23242530 |
2013 |
|
rs748203170
|
NPHS2;AXDND1
|
Focal glomerulosclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight of these (p.R138Q, p.V180M, p.R229Q, p.E237Q, p.A242V, p.A284V, p.L327F and the frameshift 855-856 delAA) are alleles previously reported to cause FSGS in either the homozygous or compound heterozygous states, while the remaining 7 (p.R10T, p.V127W, p.Q215X, p.T232I, p.L270F, p.L312V and the frameshift 397delA) are novel alleles that have not been demonstrated previously.
|
18823551 |
2008 |
|
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 |
|
rs200482683
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
|
22578956 |
2012 |
|
rs74315348
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
A |
0.800 |
GeneticVariation |
CLINVAR |
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
|
15817495 |
2005 |
|
rs74315348
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
|
14978175 |
2004 |
|
rs74315348
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
A |
0.800 |
GeneticVariation |
CLINVAR |
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
|
15327385 |
2004 |
|
rs74315348
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
A |
0.800 |
GeneticVariation |
CLINVAR |
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
|
10742096 |
2000 |
|
rs74315348
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs74315348
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.
|
15496146 |
2004 |
|
rs74315348
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
A |
0.800 |
GeneticVariation |
CLINVAR |
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.
|
12464671 |
2002 |
|
rs74315348
|
NPHS2;AXDND1
|
Idiopathic Nephrotic Syndrome
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
|
24509478 |
2014 |