|
rs202128397
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121907900
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs386833945
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs748106387
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs879255251
|
|
TGGCGCGGCCCCGGCCC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
|
rs530318579
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel mutation of NPHS2(467_468insT and 503G>A) in a Chinese family with autosomal recessive SRNS using polymerase chain re-action, denaturing high-performance liquid chromatography, and DNA sequencing techniques.
|
15322893 |
2004 |
|
rs748812981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this report, the cases of 3 siblings with steroid-resistant nephrotic syndrome who carry NPHS2 mutations (R238S and P118L) are presented.
|
15264208 |
2004 |
|
rs869025495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this report, the cases of 3 siblings with steroid-resistant nephrotic syndrome who carry NPHS2 mutations (R238S and P118L) are presented.
|
15264208 |
2004 |
|
rs74315343
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Twenty-two children with SRNS from six unrelated Arab families were found to be homozygous for the R138X mutation in NPHS2.
|
16291839 |
2006 |
|
rs74315342
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All but one patient affected by truncating or homozygous R138Q mutations developed SRNS before 6 yr of age.
|
18216321 |
2008 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In steroid-resistant nephrotic syndrome (SRNS) Machuca et al. report that mutations of the recessive podocin gene cause adult-onset SRNS if the R229Q genetic variant occurs in a compound heterozygous state with another podocin mutation.
|
19282856 |
2009 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our study shows that compound heterozygosity for p.R229Q is associated with adult-onset steroid-resistant NS, mostly among patients of European and South American origin.
|
19145239 |
2009 |
|
rs1462028977
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The compound heterozygous mutation in NPHS2 may explain the development of SRNS in this family. p.Arg71X is a novel disease-causing mutation leading to a deficient expression of podocin.
|
20001346 |
2009 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Six additional cases with late childhood- and adult-onset SRNS were compound heterozygotes for p.R229Q and one pathogenic mutation, mostly p.A284V. p.R229Q was more frequent among SRNS cases relative to controls (odds ratio=2.65; P=0.02).
|
20947785 |
2011 |
|
rs146776939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The former mutation, p.N125S, was found in two siblings with early-onset steroid-resistant nephrotic syndrome (SRNS) at the ages of 4 and 14 years.
|
21734084 |
2011 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome.
|
22578956 |
2012 |
|
rs1001703993
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome.
|
22578956 |
2012 |
|
rs74315344
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome.
|
22578956 |
2012 |
|
rs761613959
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome.
|
22578956 |
2012 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful.
|
23800802 |
2013 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In this preliminary study, we showed that NPHS2 gene p.R229Q polymorphism does not present in Iranian-Azeri population with SRNS.
|
24072153 |
2013 |
|
rs200482683
|
|
|
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 |
|
rs753350907
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful.
|
23800802 |
2013 |