Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267602852
rs267602852
WT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs386833945
rs386833945
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121912491
rs121912491
0.010 GeneticVariation BEFREE In contrast, patients with LAMB2 missense mutations, such as R246Q, can have less severe extrarenal defects but still exhibit congenital nephrotic syndrome. 21511833

2011

dbSNP: rs763972372
rs763972372
0.010 GeneticVariation BEFREE The novel splice site mutation of IVS11+1G>A and a missense mutation at c.928G>A in NPHS1 were found to cause CNS in this Chinese child. 25729976

2015

dbSNP: rs1187796947
rs1187796947
0.010 GeneticVariation BEFREE The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. 29663071

2018

dbSNP: rs200419008
rs200419008
0.010 GeneticVariation BEFREE The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. 29663071

2018

dbSNP: rs778552202
rs778552202
0.010 GeneticVariation BEFREE The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. 29663071

2018

dbSNP: rs386833895
rs386833895
0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551

2018

dbSNP: rs962888148
rs962888148
0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551

2018