NPHS2 — 589 ClinVar variants

All ClinVar germline NPHS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →

42 Pathogenic · 37 Pathogenic/Likely pathogenic · 74 Likely pathogenic · 31 Conflicting · 32 Benign · 6 Benign/Likely benign · 205 Likely benign · 162 Uncertain significance

Full NPHS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 153

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 12

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

NPHS2 p.Ala284Val Pathogenic/Likely pathogenic Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Arg291Trp Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
NPHS2 p.Leu327Phe Likely pathogenic Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Lys289Glu Likely pathogenic Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Val180Met Pathogenic Multiple submitters
NPHS2-related disorder
NPHS2 p.Val290Met Pathogenic/Likely pathogenic Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ala213Thr Likely pathogenic Single submitter
idiopathic nephrotic syndrome
NPHS2 p.Glu310Gly Likely pathogenic Single submitter
NPHS2 p.Val127Ile Likely pathogenic Single submitter
nephrotic syndrome, type 2
NPHS2 p.Ala248Thr Likely pathogenic No assertion criteria
nephrotic syndrome
NPHS2 p.Asn374Tyr Likely pathogenic No assertion criteria
nephrotic syndrome
NPHS2 p.Gly92Cys Pathogenic No assertion criteria
nephrotic syndrome, type 2

Predictors agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

NPHS2 p.Arg229Gln Conflicting Single submitter
Inborn genetic diseases
NPHS2 p.Arg322Pro Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Cys124Tyr Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Glu237Gln Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly140Glu Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Pro20Leu Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS2 p.Trp122Ser Conflicting Single submitter
steroid-resistant nephrotic syndrome

Predictors lean, ClinVar uncertain 85

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

NPHS2 p.Ala208Thr Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ala242Thr Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ala29Thr Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ala41Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS2 p.Ala61Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS2 p.Arg133Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS2 p.Arg224His Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Arg50Trp Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS2 p.Arg6Gln Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Asn355Ser Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Asp183Gly Uncertain significance Multiple submitters
steroid-resistant nephrotic syndrome
NPHS2 p.Gln328Arg Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Gly74Ser Uncertain significance Multiple submitters
NPHS2-related disorder
NPHS2 p.Gly97Arg Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Gly97Ser Uncertain significance Multiple submitters
NPHS2 p.Ile189Arg Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Leu139Arg Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Lys376Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS2 p.Lys377Arg Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Trp122Arg Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ala308Thr Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Ala41Gly Uncertain significance Single submitter
NPHS2 p.Ala62Thr Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Arg196Gly Uncertain significance Single submitter
NPHS2 p.Arg238Met Uncertain significance Single submitter
NPHS2 p.Arg38Leu Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Asn199Ile Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Asn374Thr Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Asp183Tyr Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Asp267Tyr Uncertain significance Single submitter
NPHS2 p.Cys124Trp Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gln129Arg Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Gln215Glu Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Glu178Asp Uncertain significance Single submitter
NPHS2 p.Glu188Gln Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Glu303Asp Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Glu303Gln Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Glu56Gly Uncertain significance Single submitter
NPHS2 p.Glu75Lys Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Glu85Lys Uncertain significance Single submitter
NPHS2 p.Gly14Arg Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly14Val Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Gly35Ser Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly35Val Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly37Arg Uncertain significance Single submitter
NPHS2 p.Gly42Ala Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly55Arg Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly72Cys Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.His325Gln Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Ile113Met Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Leu104Phe Uncertain significance Single submitter
NPHS2 p.Leu231Arg Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Leu305Pro Uncertain significance Single submitter
steroid-resistant nephrotic syndrome
NPHS2 p.Leu83Pro Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Met115Ile Uncertain significance Single submitter
NPHS2 p.Met292Ile Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Met292Thr Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Phe112Ile Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Pro118Ser Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Pro89Leu Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Ser230Pro Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Ser32Arg Uncertain significance Single submitter
NPHS2 p.Ser351Phe Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Ser73Cys Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Ser95Phe Uncertain significance Single submitter
steroid-resistant nephrotic syndrome
NPHS2 p.Thr19Pro Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Thr53Pro Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Val125Leu Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Val280Ala Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Val70Ile Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Ala62Val Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Arg322Leu Uncertain significance No assertion criteria
NPHS2-related disorder
NPHS2 p.Asp190Asn Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Glu30Lys Uncertain significance No assertion criteria
nephrotic syndrome, type 2
NPHS2 p.Glu91Asp Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Gly257Glu Uncertain significance No assertion criteria
nephrotic syndrome, type 2
NPHS2 p.Gly35Arg Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Ile113Val Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Ile186Thr Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Lys148Arg Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Phe363Ser Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Pro366Leu Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Pro43Leu Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Ser211Thr Uncertain significance No assertion criteria
nephrotic syndrome, type 2
NPHS2 p.Val210Ala Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome

Predictors split 49

The independent predictors disagree with each other — read with care.

NPHS2 p.Arg10Thr Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Arg138Gln Pathogenic/Likely pathogenic Multiple submitters
NPHS2-related disorder
NPHS2 p.Arg291Gln Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Glu198Ala Likely pathogenic Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ile241Val Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ile265Met Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Leu169Pro Pathogenic Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Pro175Thr Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ser313Leu Uncertain significance Multiple submitters
nephrotic syndrome, type 2
NPHS2 p.Ala147Asp Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Ala242Val Conflicting Single submitter
focal segmental glomerulosclerosis
NPHS2 p.Ala288Thr Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Ala295Thr Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Ala309Thr Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Arg224Cys Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Arg322Gln Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gln287Arg Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gln320Glu Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Glu102Lys Uncertain significance Single submitter
NPHS2 p.Glu130Asp Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.Glu264Gln Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Glu310Lys Conflicting Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly92Asp Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly92Ser Uncertain significance Single submitter
steroid-resistant nephrotic syndrome
NPHS2 p.Gly92Val Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Gly99Glu Uncertain significance Single submitter
Inborn genetic diseases
NPHS2 p.His141Tyr Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.His325Tyr Uncertain significance Single submitter
NPHS2 p.Ile192Thr Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Leu139Met Uncertain significance Single submitter
NPHS2 p.Lys164Arg Uncertain significance Single submitter
NPHS2 p.Lys239Thr Uncertain significance Single submitter
NPHS2 p.Lys246Asn Uncertain significance Single submitter
NPHS2 p.Pro175His Uncertain significance Single submitter
NPHS2 p.Pro175Leu Uncertain significance Single submitter
NPHS2 p.Pro271Ser Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Pro316Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis
NPHS2 p.Ser230Phe Uncertain significance Single submitter
NPHS2 p.Ser48Tyr Uncertain significance Single submitter
NPHS2 p.Thr253Ala Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Trp122Leu Uncertain significance Single submitter
nephrotic syndrome, type 2
NPHS2 p.Val268Met Uncertain significance Single submitter
NPHS2 p.Cys101Tyr Uncertain significance No assertion criteria
NPHS2 p.Glu310Val Pathogenic No assertion criteria
nephrotic syndrome, type 2
NPHS2 p.Leu235Phe Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Leu312Val Uncertain significance No assertion criteria
nephrotic syndrome, type 2
NPHS2 p.Lys182Arg Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome
NPHS2 p.Pro175Ser Uncertain significance No assertion criteria
nephrotic syndrome, type 2
NPHS2 p.Val128Ala Uncertain significance No assertion criteria
steroid-resistant nephrotic syndrome

All NPHS2 variants

Pathogenic 42

c.738+1G>C Multiple submitters steroid-resistant nephrotic syndrome
c.873+1G>A Multiple submitters nephrotic syndrome, type 2
p.Ala317fs Multiple submitters nephrotic syndrome, type 2
p.Arg133fs Multiple submitters nephrotic syndrome, type 2
p.Arg138Ter Multiple submitters idiopathic nephrotic syndrome
p.Arg146fs Multiple submitters nephrotic syndrome, type 2
p.Arg36fs Multiple submitters nephrotic syndrome, type 2
p.Arg71Ter Multiple submitters nephrotic syndrome, type 2
p.Gln129Ter Multiple submitters NPHS2-related disorder
p.Glu44Ter Multiple submitters nephrotic syndrome, type 2
p.Glu87Ter Multiple submitters steroid-resistant nephrotic syndrome
p.Gly140fs Multiple submitters nephrotic syndrome, type 2
p.Leu169Pro Multiple submitters nephrotic syndrome, type 2 ⚠
p.Met1Leu Multiple submitters nephrotic syndrome, type 2
p.Tyr162Ter Multiple submitters nephrotic syndrome, type 2
p.Val180Met Multiple submitters NPHS2-related disorder ⚠
p.Val260Glu Multiple submitters steroid-resistant nephrotic syndrome
c.378+1G>T Single submitter steroid-resistant nephrotic syndrome
p.Arg196fs Single submitter
p.Asn199fs Single submitter nephrotic syndrome, type 2
p.Cys124Arg Single submitter
p.Gln328fs Single submitter nephrotic syndrome, type 2
p.Glu130Ter Single submitter
p.Glu188Ter Single submitter
p.Glu310Ter Single submitter
p.Glu69Ter Single submitter
p.Gly17fs Single submitter
p.Gly35fs Single submitter focal segmental glomerulosclerosis
p.Ile121fs Single submitter
p.Ile192fs Single submitter nephrotic syndrome, type 2
p.Leu225_Leu226insTer Single submitter
p.Leu235_Leu236insTer Single submitter NPHS2-related disorder
p.Lys126fs Single submitter steroid-resistant nephrotic syndrome
p.Lys246Ter Single submitter
p.Met1Ile Single submitter
p.Phe185fs Single submitter
p.Pro175fs Single submitter
p.Pro43fs Single submitter nephrotic syndrome, type 2
c.452-1G>A No assertion criteria nephrotic syndrome, type 2
p.Glu310Val No assertion criteria nephrotic syndrome, type 2 ⚠
p.Gly92Cys No assertion criteria nephrotic syndrome, type 2 ⚠
p.His276fs No assertion criteria NPHS2-related disorder

Pathogenic/Likely pathogenic 37

c.275-2A>G Multiple submitters nephrotic syndrome, type 2
c.378+1_378+2delinsTG Multiple submitters nephrotic syndrome, type 2
c.378+1G>A Multiple submitters nephrotic syndrome, type 2
c.451+3A>T Multiple submitters nephrotic syndrome, type 2
c.452del Multiple submitters steroid-resistant nephrotic syndrome
c.535-1G>T Multiple submitters idiopathic nephrotic syndrome
c.738+1del Multiple submitters steroid-resistant nephrotic syndrome
c.738+1G>A Multiple submitters NPHS2-related disorder
c.738+2T>C Multiple submitters nephrotic syndrome, type 2
c.873+1G>T Multiple submitters nephrotic syndrome, type 2
c.873+2T>A Multiple submitters nephrotic syndrome, type 2
c.874-1G>A Multiple submitters nephrotic syndrome, type 2
p.Ala284Val Multiple submitters nephrotic syndrome, type 2 ⚠
p.Ala297Val Multiple submitters idiopathic nephrotic syndrome
p.Arg138Gln Multiple submitters NPHS2-related disorder ⚠
p.Arg168Cys Multiple submitters nephrotic syndrome, type 2
p.Arg168His Multiple submitters NPHS2-related disorder
p.Arg196Ter Multiple submitters nephrotic syndrome, type 2
p.Arg229Ter Multiple submitters steroid-resistant nephrotic syndrome
p.Arg238Ser Multiple submitters nephrotic syndrome, type 2
p.Arg286fs Multiple submitters NPHS2-related disorder
p.Arg291Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg322Ter Multiple submitters steroid-resistant nephrotic syndrome
p.Gln215Ter Multiple submitters steroid-resistant nephrotic syndrome
p.Gln287Ter Multiple submitters nephrotic syndrome, type 2
p.Glu56Ter Multiple submitters nephrotic syndrome, type 2
p.His21fs Multiple submitters nephrotic syndrome, type 2
p.Leu236_Arg238del Multiple submitters nephrotic syndrome, type 2
p.Leu330fs Multiple submitters nephrotic syndrome, type 2
p.Leu98fs Multiple submitters nephrotic syndrome, type 2
p.Met1Thr Multiple submitters nephrotic syndrome, type 2
p.Phe344fs Multiple submitters nephrotic syndrome, type 2
p.Pro118Leu Multiple submitters nephrotic syndrome, type 2
p.Thr53fs Multiple submitters steroid-resistant nephrotic syndrome
p.Trp256Ter Multiple submitters nephrotic syndrome, type 2
p.Tyr162fs Multiple submitters steroid-resistant nephrotic syndrome
p.Val290Met Multiple submitters nephrotic syndrome, type 2 ⚠

Likely pathogenic 74

c.451+2T>A Multiple submitters nephrotic syndrome, type 2
c.795-1G>A Multiple submitters steroid-resistant nephrotic syndrome
p.Arg322Gly Multiple submitters steroid-resistant nephrotic syndrome
p.Cys193Ter Multiple submitters nephrotic syndrome, type 2
p.Glu198Ala Multiple submitters nephrotic syndrome, type 2 ⚠
p.Gly33fs Multiple submitters nephrotic syndrome, type 2
p.Leu327Phe Multiple submitters nephrotic syndrome, type 2 ⚠
p.Lys289Glu Multiple submitters nephrotic syndrome, type 2 ⚠
p.Lys299fs Multiple submitters nephrotic syndrome, type 2
p.Ser46fs Multiple submitters nephrotic syndrome, type 2
p.Ser48fs Multiple submitters nephrotic syndrome, type 2
c.274+1G>T Single submitter nephrotic syndrome, type 2
c.379-2A>T Single submitter nephrotic syndrome, type 2
c.379del Single submitter nephrotic syndrome, type 2
c.451+1G>C Single submitter nephrotic syndrome, type 2
c.534+2_534+9delinsCTTTTGCCTC Single submitter nephrotic syndrome, type 2
c.535-1G>C Single submitter nephrotic syndrome, type 2
c.738+1G>T Single submitter
c.739-1G>C Single submitter
c.795-2A>C Single submitter nephrotic syndrome, type 2
c.874-1G>C Single submitter nephrotic syndrome, type 2
p.Ala100fs Single submitter nephrotic syndrome, type 2
p.Ala213Thr Single submitter idiopathic nephrotic syndrome ⚠
p.Ala227fs Single submitter steroid-resistant nephrotic syndrome
p.Ala308Val Single submitter nephrotic syndrome, type 2
p.Ala318del Single submitter nephrotic syndrome, type 2
p.Ala318fs Single submitter
p.Ala61fs Single submitter nephrotic syndrome, type 2
p.Ala82fs Single submitter nephrotic syndrome, type 2
p.Arg10fs Single submitter
p.Arg138Pro Single submitter nephrotic syndrome, type 2
p.Arg262Ter Single submitter nephrotic syndrome, type 2
p.Asp160Gly Single submitter nephrotic syndrome, type 2
p.Cys158Ter Single submitter nephrotic syndrome, type 2
p.Gln275fs Single submitter nephrotic syndrome, type 2
p.Gln285Ter Single submitter nephrotic syndrome, type 2
p.Glu11fs Single submitter nephrotic syndrome, type 2
p.Glu281Lys Single submitter steroid-resistant nephrotic syndrome
p.Glu310Gly Single submitter ⚠
p.Glu90fs Single submitter
p.Leu139Pro Single submitter steroid-resistant nephrotic syndrome
p.Leu156fs Single submitter nephrotic syndrome, type 2
p.Leu305fs Single submitter NPHS2-related disorder
p.Leu350fs Single submitter nephrotic syndrome, type 2
p.Leu84Ter Single submitter nephrotic syndrome, type 2
p.Lys126Asn Single submitter
p.Lys212fs Single submitter nephrotic syndrome, type 2
p.Lys22fs Single submitter nephrotic syndrome, type 2
p.Lys25fs Single submitter steroid-resistant nephrotic syndrome
p.Phe137fs Single submitter nephrotic syndrome, type 2
p.Phe155fs Single submitter nephrotic syndrome, type 2
p.Phe176fs Single submitter nephrotic syndrome, type 2
p.Pro157fs Single submitter nephrotic syndrome, type 2
p.Pro271Leu Single submitter nephrotic syndrome, type 2
p.Ser120Pro Single submitter nephrotic syndrome, type 2
p.Ser277fs Single submitter steroid-resistant nephrotic syndrome
p.Ser336fs Single submitter nephrotic syndrome, type 2
p.Ser86fs Single submitter nephrotic syndrome, type 2
p.Ter384Gln Single submitter steroid-resistant nephrotic syndrome
p.Trp103Ter Single submitter steroid-resistant nephrotic syndrome
p.Tyr131Ter Single submitter nephrotic syndrome, type 2
p.Tyr323Ter Single submitter nephrotic syndrome, type 2
p.Val127Ile Single submitter nephrotic syndrome, type 2 ⚠
p.Val64fs Single submitter nephrotic syndrome, type 2
p.Ala248Thr No assertion criteria nephrotic syndrome ⚠
p.Asn355fs No assertion criteria nephrotic syndrome, type 2
p.Asn374Tyr No assertion criteria nephrotic syndrome ⚠
p.Asp160Val No assertion criteria nephrotic syndrome, type 2
p.Cys124fs No assertion criteria nephrotic syndrome, type 2
p.Glu56fs No assertion criteria nephrotic syndrome, type 2
p.Leu84fs No assertion criteria nephrotic syndrome, type 2
p.Met184fs No assertion criteria nephrotic syndrome
p.Ser304_Arg306del No assertion criteria nephrotic syndrome
p.Ser354fs No assertion criteria nephrotic syndrome

Conflicting classifications of pathogenicity 31

c.274+14A>G Single submitter nephrotic syndrome, type 2
c.451+15T>C Single submitter nephrotic syndrome, type 2
c.873+11C>T Single submitter nephrotic syndrome, type 2
c.874-13A>G Single submitter nephrotic syndrome, type 2
c.874-2A>C Single submitter nephrotic syndrome, type 2
p.Ala242Val Single submitter focal segmental glomerulosclerosis ⚠
p.Ala288Thr Single submitter nephrotic syndrome, type 2 ⚠
p.Ala295Thr Single submitter nephrotic syndrome, type 2 ⚠
p.Arg229= Single submitter steroid-resistant nephrotic syndrome
p.Arg229Gln Single submitter Inborn genetic diseases ⚠
p.Arg322Gln Single submitter nephrotic syndrome, type 2 ⚠
p.Arg322Pro Single submitter nephrotic syndrome, type 2 ⚠
p.Cys124= Single submitter focal segmental glomerulosclerosis
p.Cys124Tyr Single submitter nephrotic syndrome, type 2 ⚠
p.Gln287Arg Single submitter nephrotic syndrome, type 2 ⚠
p.Gln39Ter Single submitter nephrotic syndrome, type 2
p.Glu237Gln Single submitter nephrotic syndrome, type 2 ⚠
p.Glu264Gln Single submitter nephrotic syndrome, type 2 ⚠
p.Glu310Lys Single submitter nephrotic syndrome, type 2 ⚠
p.Glu40= Single submitter nephrotic syndrome, type 2
p.Gly140Glu Single submitter nephrotic syndrome, type 2 ⚠
p.Gly149= Single submitter nephrotic syndrome, type 2
p.Gly99= Single submitter nephrotic syndrome, type 2
p.Ile255= Single submitter nephrotic syndrome, type 2
p.Leu204= Single submitter nephrotic syndrome, type 2
p.Lys378fs Single submitter nephrotic syndrome, type 2
p.Met187Ile Single submitter steroid-resistant nephrotic syndrome
p.Pro20Leu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ser46= Single submitter nephrotic syndrome, type 2
p.Thr171= Single submitter kidney disorder
p.Trp122Ser Single submitter steroid-resistant nephrotic syndrome ⚠

Benign 32

c.452-144C>T Multiple submitters
c.452-181T>C Multiple submitters
c.452-21C>T Multiple submitters nephrotic syndrome, type 2
c.452-31T>C Multiple submitters
c.452-46C>T Multiple submitters nephrotic syndrome, type 2
c.738+110T>A Multiple submitters
c.795-116C>A Multiple submitters
c.795-266G>T Multiple submitters
c.795-283C>T Multiple submitters
c.873+54A>G Multiple submitters
c.874-129A>G Multiple submitters
c.874-205C>T Multiple submitters
c.874-258C>T Multiple submitters
c.874-74G>C Multiple submitters
c.-116C>T Multiple submitters nephrotic syndrome, type 2
c.-185T>C Multiple submitters steroid-resistant nephrotic syndrome
c.-51G>T Multiple submitters nephrotic syndrome, type 2
c.-52C>G Multiple submitters nephrotic syndrome, type 2
c.*157G>A Multiple submitters nephrotic syndrome, type 2
c.*200G>A Multiple submitters nephrotic syndrome, type 2
c.*258A>G Multiple submitters nephrotic syndrome, type 2
c.*428A>G Multiple submitters nephrotic syndrome, type 2
c.*54G>C Multiple submitters nephrotic syndrome, type 2
p.Ala318= Multiple submitters nephrotic syndrome, type 2
p.Gly34= Multiple submitters nephrotic syndrome, type 2
c.451+283T>G Single submitter
c.452-254A>G Single submitter
c.535-9del Single submitter
c.535-9dup Single submitter
c.873+10C>T Single submitter steroid-resistant nephrotic syndrome
c.874-16G>A Single submitter
c.874-5del Single submitter

Benign/Likely benign 6

c.451+9dup Multiple submitters kidney disorder
c.873+7A>G Multiple submitters focal segmental glomerulosclerosis
p.Ala61Val Multiple submitters nephrotic syndrome, type 2
p.Gly42Arg Multiple submitters nephrotic syndrome, type 2
p.Leu346= Multiple submitters nephrotic syndrome, type 2
p.Ser96= Multiple submitters nephrotic syndrome, type 2

Likely benign 205

c.452-17C>T Multiple submitters
c.534+13A>T Multiple submitters nephrotic syndrome, type 2
c.535-96G>A Multiple submitters
p.Ala284= Multiple submitters nephrotic syndrome, type 2
p.Asp244= Multiple submitters Inborn genetic diseases
p.Gly92= Multiple submitters nephrotic syndrome, type 2
p.Ile241= Multiple submitters nephrotic syndrome, type 2
p.Leu152= Multiple submitters nephrotic syndrome, type 2
p.Lys368= Multiple submitters
p.Thr78= Multiple submitters
p.Leu312= Single submitter
c.274+15C>T Single submitter
c.274+18_274+20del Single submitter
c.274+19T>C Single submitter
c.275-10dup Single submitter
c.275-12_275-9del Single submitter
c.275-12A>C Single submitter
c.275-4T>C Single submitter
c.275-7_275-4del Single submitter
c.275-9T>G Single submitter
c.371_378+18dup Single submitter
c.378+12T>C Single submitter
c.378+16del Single submitter
c.378+16G>T Single submitter
c.378+18C>T Single submitter
c.378+20del Single submitter
c.378+9C>T Single submitter
c.379-15T>G Single submitter
c.379-16T>A Single submitter
c.379-6C>T Single submitter
c.451+11A>G Single submitter
c.451+13T>C Single submitter
c.451+14C>A Single submitter
c.451+20T>C Single submitter
c.452-11C>G Single submitter
c.452-11C>T Single submitter
c.452-11CT[2] Single submitter
c.452-13T>C Single submitter
c.452-14C>T Single submitter
c.452-17C>A Single submitter
c.452-17CTC[2] Single submitter steroid-resistant nephrotic syndrome
c.452-276C>T Single submitter
c.452-3del Single submitter
c.452-5T>G Single submitter
c.452-7C>A Single submitter
c.534+10del Single submitter
c.534+16G>C Single submitter
c.534+7C>A Single submitter
c.535-10T>G Single submitter
c.535-18A>C Single submitter
c.535-20C>A Single submitter
c.535-5C>T Single submitter
c.535-6G>A Single submitter
c.535-7T>C Single submitter
c.535-97C>T Single submitter
c.738+5dup Single submitter
c.739-10_739-8del Single submitter
c.739-20C>T Single submitter
c.739-6C>T Single submitter
c.739-7T>C Single submitter
c.739-9T>C Single submitter
c.794+13T>A Single submitter
c.794+18T>C Single submitter
c.794+19A>G Single submitter
c.794+20G>A Single submitter
c.794+7A>G Single submitter
c.794+9G>A Single submitter
c.794+9G>C Single submitter
c.795-10T>C Single submitter
c.795-18G>T Single submitter
c.795-19T>G Single submitter
c.795-9_795-6del Single submitter
c.795-9C>A Single submitter
c.873+10C>A Single submitter
c.873+13T>A Single submitter
c.873+20A>G Single submitter
c.873+8C>T Single submitter
c.873+9T>G Single submitter
c.874-10T>C Single submitter
c.874-11_874-10del Single submitter steroid-resistant nephrotic syndrome
c.874-16G>T Single submitter
c.874-17C>T Single submitter
c.874-309G>C Single submitter
c.874-4C>T Single submitter
c.874-9G>A Single submitter
p.Ala191= Single submitter
p.Ala200= Single submitter
p.Ala208= Single submitter
p.Ala245= Single submitter
p.Ala248= Single submitter
p.Ala279= Single submitter
p.Ala29= Single submitter steroid-resistant nephrotic syndrome
p.Ala295= Single submitter
p.Ala297= Single submitter
p.Ala300= Single submitter
p.Ala309= Single submitter
p.Ala5= Single submitter
p.Ala59= Single submitter
p.Ala59Glu Single submitter
p.Ala82= Single submitter
p.Arg138= Single submitter
p.Arg146= Single submitter
p.Arg168= Single submitter
p.Arg224= Single submitter
p.Arg269= Single submitter
p.Arg286= Single submitter
p.Arg306= Single submitter
p.Arg31= Single submitter
p.Arg322= Single submitter
p.Arg38= Single submitter
p.Arg4= Single submitter
p.Arg50= Single submitter
p.Arg58= Single submitter
p.Arg6= Single submitter
p.Arg88= Single submitter
p.Asn199= Single submitter
p.Asp166= Single submitter
p.Asp190= Single submitter
p.Asp267= Single submitter
p.Asp345= Single submitter
p.Cys349= Single submitter
p.Gln243= Single submitter
p.Gln320= Single submitter
p.Gln39= Single submitter
p.Glu130= Single submitter steroid-resistant nephrotic syndrome
p.Glu198= Single submitter
p.Glu261= Single submitter
p.Glu30= Single submitter
p.Glu371= Single submitter steroid-resistant nephrotic syndrome
p.Glu44= Single submitter
p.Gly14= Single submitter
p.Gly151= Single submitter
p.Gly16= Single submitter
p.Gly257= Single submitter
p.Gly314= Single submitter
p.Gly35= Single submitter
p.Gly37= Single submitter
p.Gly42= Single submitter
p.Gly47= Single submitter
p.Gly52= Single submitter
p.Gly77= Single submitter
p.His177= Single submitter
p.His209= Single submitter
p.His228= Single submitter
p.Ile113= Single submitter
p.Ile121= Single submitter
p.Ile179= Single submitter
p.Ile293= Single submitter
p.Leu107= Single submitter
p.Leu142= Single submitter
p.Leu203= Single submitter
p.Leu217= Single submitter
p.Leu226= Single submitter
p.Leu231= Single submitter
p.Leu249= Single submitter steroid-resistant nephrotic syndrome
p.Leu274= Single submitter
p.Leu278= Single submitter
p.Leu305= Single submitter
p.Leu312= Single submitter
p.Leu330= Single submitter
p.Leu340= Single submitter
p.Leu361= Single submitter
p.Lys22= Single submitter
p.Lys239= Single submitter
p.Lys25= Single submitter
p.Lys299= Single submitter
p.Phe117= Single submitter
p.Phe153= Single submitter
p.Phe176= Single submitter
p.Pro316= Single submitter
p.Pro341= Single submitter
p.Pro353= Single submitter
p.Pro362= Single submitter
p.Pro43= Single submitter
p.Pro45= Single submitter
p.Pro89= Single submitter
p.Ser205= Single submitter steroid-resistant nephrotic syndrome
p.Ser206= Single submitter
p.Ser230= Single submitter
p.Ser313= Single submitter
p.Ser329= Single submitter
p.Ser336= Single submitter
p.Ser360= Single submitter
p.Ser380= Single submitter
p.Ser48= Single submitter
p.Ser7= Single submitter
p.Ser73= Single submitter
p.Ser8= Single submitter
p.Ser95= Single submitter
p.Thr161= Single submitter
p.Thr181= Single submitter
p.Thr19= Single submitter
p.Thr220= Single submitter
p.Thr221= Single submitter
p.Thr53= Single submitter
p.Thr63= Single submitter
p.Thr93= Single submitter
p.Val128= Single submitter
p.Val214= Single submitter
p.Val218= Single submitter
p.Val252= Single submitter
p.Val268= Single submitter
p.Val370= Single submitter
p.Val80= Single submitter
c.451+15dup No assertion criteria nephrotic syndrome, type 2

Uncertain significance 162

c.534+5G>A Multiple submitters nephrotic syndrome, type 2
c.*173G>A Multiple submitters nephrotic syndrome, type 2
p.Ala208Thr Multiple submitters nephrotic syndrome, type 2 ⚠
p.Ala242Thr Multiple submitters nephrotic syndrome, type 2 ⚠
p.Ala29Thr Multiple submitters nephrotic syndrome, type 2 ⚠
p.Ala41Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala51Leu Multiple submitters
p.Ala61Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg10Thr Multiple submitters nephrotic syndrome, type 2 ⚠
p.Arg133Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg224His Multiple submitters nephrotic syndrome, type 2 ⚠
p.Arg291Gln Multiple submitters nephrotic syndrome, type 2 ⚠
p.Arg50Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg6Gln Multiple submitters nephrotic syndrome, type 2 ⚠
p.Asn355Ser Multiple submitters nephrotic syndrome, type 2 ⚠
p.Asp183Gly Multiple submitters steroid-resistant nephrotic syndrome ⚠
p.Gln328Arg Multiple submitters nephrotic syndrome, type 2 ⚠
p.Gly74Ser Multiple submitters NPHS2-related disorder ⚠
p.Gly97Arg Multiple submitters nephrotic syndrome, type 2 ⚠
p.Gly97Ser Multiple submitters ⚠
p.Ile189Arg Multiple submitters nephrotic syndrome, type 2 ⚠
p.Ile241Val Multiple submitters nephrotic syndrome, type 2 ⚠
p.Ile265Met Multiple submitters nephrotic syndrome, type 2 ⚠
p.Leu139Arg Multiple submitters nephrotic syndrome, type 2 ⚠
p.Lys376Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys377Arg Multiple submitters nephrotic syndrome, type 2 ⚠
p.Pro175Thr Multiple submitters nephrotic syndrome, type 2 ⚠
p.Ser313Leu Multiple submitters nephrotic syndrome, type 2 ⚠
p.Thr232Ile Multiple submitters nephrotic syndrome, type 2
p.Trp122Arg Multiple submitters nephrotic syndrome, type 2 ⚠
c.274+3del Single submitter
c.451+4A>T Single submitter nephrotic syndrome, type 2
c.794+4G>A Single submitter nephrotic syndrome, type 2
c.873+6C>G Single submitter
c.874-2A>G Single submitter
c.-26G>T Single submitter nephrotic syndrome, type 2
c.*126C>T Single submitter nephrotic syndrome, type 2
c.*127G>C Single submitter nephrotic syndrome, type 2
c.*199C>T Single submitter nephrotic syndrome, type 2
c.*209C>G Single submitter nephrotic syndrome, type 2
c.*340C>A Single submitter nephrotic syndrome, type 2
c.*422T>C Single submitter nephrotic syndrome, type 2
p.Ala147Asp Single submitter nephrotic syndrome, type 2 ⚠
p.Ala308Thr Single submitter nephrotic syndrome, type 2 ⚠
p.Ala309Thr Single submitter nephrotic syndrome, type 2 ⚠
p.Ala41Gly Single submitter ⚠
p.Ala59Leu Single submitter
p.Ala62Thr Single submitter Inborn genetic diseases ⚠
p.Arg196Gly Single submitter ⚠
p.Arg224Cys Single submitter nephrotic syndrome, type 2 ⚠
p.Arg238Met Single submitter ⚠
p.Arg269Ser Single submitter nephrotic syndrome, type 2
p.Arg38Leu Single submitter Inborn genetic diseases ⚠
p.Asn199Ile Single submitter Inborn genetic diseases ⚠
p.Asn374Thr Single submitter Inborn genetic diseases ⚠
p.Asp183Tyr Single submitter nephrotic syndrome, type 2 ⚠
p.Asp267Tyr Single submitter ⚠
p.Cys124Trp Single submitter nephrotic syndrome, type 2 ⚠
p.Gln129Arg Single submitter Inborn genetic diseases ⚠
p.Gln215Glu Single submitter nephrotic syndrome, type 2 ⚠
p.Gln320Glu Single submitter nephrotic syndrome, type 2 ⚠
p.Glu102Lys Single submitter ⚠
p.Glu130Asp Single submitter Inborn genetic diseases ⚠
p.Glu178Asp Single submitter ⚠
p.Glu188Gln Single submitter Inborn genetic diseases ⚠
p.Glu303Asp Single submitter nephrotic syndrome, type 2 ⚠
p.Glu303Gln Single submitter Inborn genetic diseases ⚠
p.Glu56Gly Single submitter ⚠
p.Glu75Lys Single submitter Inborn genetic diseases ⚠
p.Glu85Lys Single submitter ⚠
p.Glu91= Single submitter
p.Gly14Arg Single submitter nephrotic syndrome, type 2 ⚠
p.Gly14Val Single submitter Inborn genetic diseases ⚠
p.Gly35Ser Single submitter nephrotic syndrome, type 2 ⚠
p.Gly35Val Single submitter nephrotic syndrome, type 2 ⚠
p.Gly37Arg Single submitter ⚠
p.Gly42Ala Single submitter nephrotic syndrome, type 2 ⚠
p.Gly55Arg Single submitter nephrotic syndrome, type 2 ⚠
p.Gly72Cys Single submitter Inborn genetic diseases ⚠
p.Gly77_Glu79del Single submitter nephrotic syndrome, type 2
p.Gly92Asp Single submitter nephrotic syndrome, type 2 ⚠
p.Gly92Ser Single submitter steroid-resistant nephrotic syndrome ⚠
p.Gly92Val Single submitter nephrotic syndrome, type 2 ⚠
p.Gly99Glu Single submitter Inborn genetic diseases ⚠
p.His141Tyr Single submitter nephrotic syndrome, type 2 ⚠
p.His325Gln Single submitter Inborn genetic diseases ⚠
p.His325Tyr Single submitter ⚠
p.Ile113Met Single submitter Inborn genetic diseases ⚠
p.Ile114del Single submitter nephrotic syndrome, type 2
p.Ile192Thr Single submitter nephrotic syndrome, type 2 ⚠
p.Leu104Phe Single submitter ⚠
p.Leu139= Single submitter
p.Leu139Met Single submitter ⚠
p.Leu231Arg Single submitter nephrotic syndrome, type 2 ⚠
p.Leu305Pro Single submitter steroid-resistant nephrotic syndrome ⚠
p.Leu83Pro Single submitter nephrotic syndrome, type 2 ⚠
p.Lys164Arg Single submitter ⚠
p.Lys239Thr Single submitter ⚠
p.Lys246Asn Single submitter ⚠
p.Met115Ile Single submitter ⚠
p.Met292Ile Single submitter nephrotic syndrome, type 2 ⚠
p.Met292Thr Single submitter nephrotic syndrome, type 2 ⚠
p.Phe112Ile Single submitter nephrotic syndrome, type 2 ⚠
p.Pro118Ser Single submitter nephrotic syndrome, type 2 ⚠
p.Pro175His Single submitter ⚠
p.Pro175Leu Single submitter ⚠
p.Pro271Ser Single submitter nephrotic syndrome, type 2 ⚠
p.Pro316Arg Single submitter focal segmental glomerulosclerosis ⚠
p.Pro89Leu Single submitter Inborn genetic diseases ⚠
p.Ser230Phe Single submitter ⚠
p.Ser230Pro Single submitter nephrotic syndrome, type 2 ⚠
p.Ser32Arg Single submitter ⚠
p.Ser351Phe Single submitter nephrotic syndrome, type 2 ⚠
p.Ser48Tyr Single submitter ⚠
p.Ser73Cys Single submitter nephrotic syndrome, type 2 ⚠
p.Ser95Phe Single submitter steroid-resistant nephrotic syndrome ⚠
p.Thr19Pro Single submitter nephrotic syndrome, type 2 ⚠
p.Thr253Ala Single submitter nephrotic syndrome, type 2 ⚠
p.Thr53Pro Single submitter Inborn genetic diseases ⚠
p.Trp122_Phe123delinsCysLeu Single submitter
p.Trp122Leu Single submitter nephrotic syndrome, type 2 ⚠
p.Val125Leu Single submitter Inborn genetic diseases ⚠
p.Val268Met Single submitter ⚠
p.Val280Ala Single submitter Inborn genetic diseases ⚠
p.Val70Ile Single submitter Inborn genetic diseases ⚠
c.738+7A>G No assertion criteria steroid-resistant nephrotic syndrome
c.794+10A>C No assertion criteria steroid-resistant nephrotic syndrome
c.795-10dup No assertion criteria steroid-resistant nephrotic syndrome
c.795-12T>G No assertion criteria nephrotic syndrome, type 2
c.*9G>C No assertion criteria steroid-resistant nephrotic syndrome
p.Ala294= No assertion criteria steroid-resistant nephrotic syndrome
p.Ala61= No assertion criteria steroid-resistant nephrotic syndrome
p.Ala62Val No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Arg322Leu No assertion criteria NPHS2-related disorder ⚠
p.Arg4del No assertion criteria nephrotic syndrome, type 2
p.Asp190Asn No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Cys101Tyr No assertion criteria ⚠
p.Glu23del No assertion criteria nephrotic syndrome, type 2
p.Glu30Lys No assertion criteria nephrotic syndrome, type 2 ⚠
p.Glu91Asp No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Gly257Glu No assertion criteria nephrotic syndrome, type 2 ⚠
p.Gly35Arg No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Ile113Val No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Ile186Thr No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Leu159= No assertion criteria steroid-resistant nephrotic syndrome
p.Leu235Phe No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Leu312Val No assertion criteria nephrotic syndrome, type 2 ⚠
p.Leu350= No assertion criteria steroid-resistant nephrotic syndrome
p.Lys148Arg No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Lys182Arg No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Lys239Asn No assertion criteria steroid-resistant nephrotic syndrome
p.Lys377_Lys378del No assertion criteria nephrotic syndrome, type 2
p.Phe363Ser No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Pro175Ser No assertion criteria nephrotic syndrome, type 2 ⚠
p.Pro341fs No assertion criteria
p.Pro366Leu No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Pro43Leu No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Ser211Thr No assertion criteria nephrotic syndrome, type 2 ⚠
p.Val128Ala No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Val210Ala No assertion criteria steroid-resistant nephrotic syndrome ⚠
p.Val338_Pro341del No assertion criteria nephrotic syndrome, type 2
p.Val65del No assertion criteria nephrotic syndrome, type 2