Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2239785
rs2239785
G 0.700 GeneticVariation GWASCAT A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. 20668430

2010

dbSNP: rs119473033
rs119473033
T 0.700 CausalMutation CLINVAR

dbSNP: rs267602852
rs267602852
WT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs530391015
rs530391015
A 0.700 GeneticVariation CLINVAR

dbSNP: rs71785313
rs71785313
A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
A 0.700 CausalMutation CLINVAR

dbSNP: rs75462234
rs75462234
CG 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
T 0.700 GeneticVariation CLINVAR

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE In this paper, we present the currently known pathogenic and benign associations, and show that a rare p.R229Q association can be considered pathogenic if the variant in trans meets the following criteria; it affects the 270-351 residues and alters but does not disrupt the oligomerization, its p.R229Q association is found in a family with slowly progressing focal segmental glomerulosclerosis, but is expected to be rare in the general population (<1:10<sup>6</sup> ). 30260545

2018

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE In conclusion, our meta-analysis suggests that for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome and that the p.R229Q allele cannot currently be considered a risk factor for predicting FSGS. 24715228

2014

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE Nevertheless, the rare association of FSGS to a PAX2 mutation may reflect the modifier effect of p.R229Q in the homozygous state. 23800802

2013

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE The podocin mutation R229Q may play a role in the pathogenesis of FSGS and in early recurrence after transplantation, but does not allow accurate prediction of recurrence or the associated potential for prevention. 23982418

2013

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. 20947785

2011

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS). 18726620

2008

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent. 16481888

2006

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE The common variant R229Q of podocin, recently associated with late-onset focal segmental glomerulosclerosis, had an overall allelic frequency of 4.2% versus 2.5% in controls. 12707396

2003

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE Identification of R229Q mutations may be of clinical importance, as NPHS2-associated disease appears to define a subgroup of FSGS patients unresponsive to corticosteroids. 12464671

2002

dbSNP: rs121908415
rs121908415
0.050 GeneticVariation BEFREE A putative kinase target site at Y265 in the actin binding domain was also generated as a phosphomimetic ACTN4 Y265E that demonstrated even greater binding to actin filaments than K255E and the other FSGS mutants. 31664084

2019

dbSNP: rs121908415
rs121908415
0.050 GeneticVariation BEFREE Transgenic mice that express actinin-4 K256E in podocytes develop podocyte injury, proteinuria, and FSGS in association with glomerular ER stress. 29873512

2018

dbSNP: rs121908415
rs121908415
0.050 GeneticVariation BEFREE Despite the absence of a familial pattern of inheritance, these similar biological changes caused by the Y265H and K255E amino acid substitutions suggest that this new variant is potentially the cause of FSGS in this patient. 27977723

2016

dbSNP: rs121908415
rs121908415
0.050 GeneticVariation BEFREE We crossed Col1α1-eGFP-L10a mice with the Actn4(-/-) and Actn4(+/K256E) models of FSGS and analyzed podocyte transcriptional profiles at 2, 6, and 44 weeks of age. 24940801

2014

dbSNP: rs121908415
rs121908415
0.050 GeneticVariation BEFREE Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution. 18164029

2008

dbSNP: rs121908416
rs121908416
0.020 GeneticVariation BEFREE Natural mutations such as lysine 255 to glutamic acid (K to E), threonine 259 to isoleucine (T to I) and serine 262 to proline (S to P) that occur within the actin binding domain of alpha-actinin-4 (ACTN4) cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS) in affected humans. 31664084

2019

dbSNP: rs121908416
rs121908416
0.020 GeneticVariation BEFREE Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution. 18164029

2008

dbSNP: rs114896482
rs114896482
0.010 GeneticVariation BEFREE The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls. 31216994

2019