NR3C2 — 476 ClinVar variants
All ClinVar germline NR3C2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 202 flagged for review →
36 Pathogenic · 2 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 14 Conflicting · 45 Benign · 15 Benign/Likely benign · 73 Likely benign · 263 Uncertain significance
Full NR3C2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 202
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 agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NR3C2 p.Arg18Gln
Conflicting
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Arg247Trp
Conflicting
Single submitter
Inborn genetic diseases
-
NR3C2 p.Gln135His
Conflicting
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Gly351Arg
Conflicting
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Pro696Leu
Conflicting
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser222Ile
Conflicting
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser567Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 165
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 165
-
NR3C2 p.Ala539Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NR3C2 p.Ala733Val Uncertain significance Multiple submitters
-
NR3C2 p.Asn199Ile
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Asn912Ser Uncertain significance Multiple submitters
-
NR3C2 p.Asp38Tyr
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Asp937Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Cys334Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Cys73Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Gln391Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Gln825Arg
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Glu505Lys
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Gly488Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.His685Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Ile303Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Ile513Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Lys775Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Pro552Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Pro698Ser
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Pro701Arg
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Pro978Leu
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ser193Pro
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ser415Arg
Uncertain significance
Multiple submitters
pseudohyperaldosteronism type 2
- NR3C2 p.Ser718Leu Uncertain significance Multiple submitters
-
NR3C2 p.Ser728Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Thr344Ile
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Thr34Ala
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Val112Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Val781Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Ala131Pro
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Ala369Asp Uncertain significance Single submitter
-
NR3C2 p.Ala657Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ala712Ser
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ala712Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ala722Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ala733Glu
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Ala951Val Uncertain significance Single submitter
- NR3C2 p.Arg150Cys Uncertain significance Single submitter
-
NR3C2 p.Arg178Ser
Uncertain significance
Single submitter
NR3C2-related disorder
- NR3C2 p.Arg244Gln Uncertain significance Single submitter
- NR3C2 p.Arg356Gln Uncertain significance Single submitter
-
NR3C2 p.Arg356Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Arg537Gln
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Arg540Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Arg651Gln Uncertain significance Single submitter
- NR3C2 p.Arg652Gln Uncertain significance Single submitter
- NR3C2 p.Arg659Gly Uncertain significance Single submitter
-
NR3C2 p.Arg673Gln
Uncertain significance
Single submitter
pseudohyperaldosteronism type 2
-
NR3C2 p.Arg732Gln
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Arg771Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Arg80Gln
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Arg947Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Arg947Pro
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Arg983Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Asn123Asp Uncertain significance Single submitter
- NR3C2 p.Asn199Ser Uncertain significance Single submitter
-
NR3C2 p.Asn240Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Asn393Lys
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Asn40Ser
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Asn414Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Asn554Thr
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Asn554Tyr
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Asn57Ser Uncertain significance Single submitter
- NR3C2 p.Asn583Ser Uncertain significance Single submitter
- NR3C2 p.Asn79Ser Uncertain significance Single submitter
-
NR3C2 p.Asn913Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Asp38Asn Uncertain significance Single submitter
-
NR3C2 p.Asp454Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Asp565Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Cys606Tyr
Uncertain significance
Single submitter
pseudohyperaldosteronism type 2
- NR3C2 p.Cys639Tyr Uncertain significance Single submitter
- NR3C2 p.Cys645Arg Uncertain significance Single submitter
- NR3C2 p.Cys655Arg Uncertain significance Single submitter
- NR3C2 p.Cys849Arg Uncertain significance Single submitter
-
NR3C2 p.Gln135Glu
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Gln365Arg
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Gln370Arg
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Gln370Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Gln542Leu Uncertain significance Single submitter
-
NR3C2 p.Gln691Lys
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Glu16Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Glu35Ala Uncertain significance Single submitter
-
NR3C2 p.Glu35Gly
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Glu686Gln Uncertain significance Single submitter
-
NR3C2 p.Glu763Gln
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Gly390Val Uncertain significance Single submitter
-
NR3C2 p.Gly455Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Gly500Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Gly621Asp Uncertain significance Single submitter
- NR3C2 p.His253Arg Uncertain significance Single submitter
- NR3C2 p.His253Leu Uncertain significance Single submitter
-
NR3C2 p.His434Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.His563Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.His841Pro Uncertain significance Single submitter
- NR3C2 p.Ile185Val Uncertain significance Single submitter
- NR3C2 p.Ile384Leu Uncertain significance Single submitter
-
NR3C2 p.Ile427Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ile55Phe
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ile711Met
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ile745Val
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ile88Val
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Leu355Trp
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Lys464Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Lys67Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Lys970Met
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Lys977Arg Uncertain significance Single submitter
-
NR3C2 p.Met128Val
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Met200Leu
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Met43Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Met740Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Met845Arg Uncertain significance Single submitter
- NR3C2 p.Phe956Ile Uncertain significance Single submitter
-
NR3C2 p.Pro192Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Pro56Ala
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Pro697Leu Uncertain significance Single submitter
-
NR3C2 p.Pro701Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Pro72Arg
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Pro831Thr Uncertain significance Single submitter
-
NR3C2 p.Pro978Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Ser152Phe Uncertain significance Single submitter
- NR3C2 p.Ser166Pro Uncertain significance Single submitter
-
NR3C2 p.Ser170Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser202Cys
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ser215Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser238Thr
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ser23Phe
Uncertain significance
Single submitter
NR3C2-related disorder
- NR3C2 p.Ser248Leu Uncertain significance Single submitter
-
NR3C2 p.Ser274Arg
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ser408Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Ser409Ala Uncertain significance Single submitter
-
NR3C2 p.Ser409Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser459Pro
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ser538Ala
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ser538Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser586Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser593Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser64Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser936Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser936Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Thr153Ile Uncertain significance Single submitter
-
NR3C2 p.Thr344Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Thr348Pro
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Thr364Ser
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Thr432Ala Uncertain significance Single submitter
-
NR3C2 p.Thr555Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Thr60Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Thr709Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Trp783Leu Uncertain significance Single submitter
-
NR3C2 p.Tyr117Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Tyr119His
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Tyr922Phe
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 30
The independent predictors disagree with each other — read with care.
-
NR3C2 p.Pro325Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Pro575Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR3C2 p.Ser312Gly
Uncertain significance
Multiple submitters
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Ala813Val
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Arg771Ser
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Asn770Ser Uncertain significance Single submitter
- NR3C2 p.Asp403Tyr Uncertain significance Single submitter
-
NR3C2 p.Cys50Phe
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Cys808Phe Uncertain significance Single submitter
- NR3C2 p.Cys910Trp Uncertain significance Single submitter
-
NR3C2 p.Gln798Lys
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Glu948Lys Uncertain significance Single submitter
-
NR3C2 p.Gly520Val
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.His982Tyr
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Ile647Val Uncertain significance Single submitter
- NR3C2 p.Leu473Phe Uncertain significance Single submitter
- NR3C2 p.Leu809Val Uncertain significance Single submitter
- NR3C2 p.Lys905Asn Uncertain significance Single submitter
- NR3C2 p.Met777Ile Uncertain significance Single submitter
-
NR3C2 p.Phe460Leu
Conflicting
Single submitter
Inborn genetic diseases
-
NR3C2 p.Pro239Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NR3C2 p.Pro300Ala Uncertain significance Single submitter
-
NR3C2 p.Pro402Leu
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Pro402Thr
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Pro509Arg
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
-
NR3C2 p.Pro551Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR3C2 p.Ser810Leu
Uncertain significance
Single submitter
pseudohyperaldosteronism type 2
-
NR3C2 p.Ser930Cys
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
- NR3C2 p.Val516Met Uncertain significance Single submitter
-
NR3C2 p.Val971Met
Uncertain significance
Single submitter
autosomal dominant pseudohypoaldosteronism type 1
All NR3C2 variants
Pathogenic 36
- p.Arg590Ter Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Arg651Ter Multiple submitters NR3C2-related disorder
- p.Arg652Ter Multiple submitters NR3C2-related disorder
- p.Arg732Ter Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Arg947Ter Multiple submitters NR3C2-related disorder
- p.Met186fs Multiple submitters
- c.2509_2510+2del Single submitter Renal tubulopathies
- p.Arg537Ter Single submitter autism spectrum disorder
- p.Arg861Ter Single submitter
- p.Gln967Ter Single submitter Renal tubulopathies
- p.Glu120Ter Single submitter Renal tubulopathies
- p.Gly607fs Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Lys953_Val954insTer Single submitter autism spectrum disorder
- p.Met845fs Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Pro736fs Single submitter
- p.Ser152fs Single submitter
- p.Ser470Ter Single submitter pseudohypoaldosteronism
- p.Ser562Ter Single submitter
- p.Ser818Leu Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Tyr119fs Single submitter
- p.Tyr819Asp Single submitter
- p.Tyr819Ter Single submitter
- c.2365+3del No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Ala958fs No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Cys436Ter No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Cys645Ter No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Gln776Arg No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Glu378Ter No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Glu972Gly No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Gly633Arg No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Leu979Pro No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Met105fs No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Ser163Ter No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Ser335fs No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Ser459fs No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
- p.Ser675Ter No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
Pathogenic/Likely pathogenic 2
- c.2799+1G>A Multiple submitters Inborn genetic diseases
- p.Gln919Ter Multiple submitters NR3C2-related disorder
Likely pathogenic 28
- p.Gln125Ter Multiple submitters NR3C2-related disorder
- c.2014+2T>C Single submitter
- c.2015-1G>A Single submitter
- c.2642-1G>C Single submitter
- p.Arg319fs Single submitter NR3C2-related disorder
- p.Arg673Ter Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Asp832Gly Single submitter NR3C2-related disorder
- p.Gln923Ter Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Glu35fs Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Leu535Ter Single submitter NR3C2-related disorder
- p.Leu886Arg Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Leu886His Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Leu924Pro Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Leu938Arg Single submitter NR3C2-related disorder
- p.Pro264_Leu265insTer Single submitter NR3C2-related disorder
- p.Pro451fs Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Pro969fs Single submitter
- p.Ser196fs Single submitter NR3C2-related disorder
- p.Ser203fs Single submitter NR3C2-related disorder
- p.Ser600Ter Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ser818Trp Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ser98fs Single submitter NR3C2-related disorder
- p.Thr735fs Single submitter NR3C2-related disorder
- p.Trp560Ter Single submitter NR3C2-related disorder
- p.Trp918Ter Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Val241fs Single submitter NR3C2-related disorder
- c.1758-1G>A No assertion criteria NR3C2-related disorder
- p.Pro699fs No assertion criteria autosomal dominant pseudohypoaldosteronism type 1
Conflicting classifications of pathogenicity 14
- c.1757+6T>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Arg18Gln Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Arg247Trp Single submitter Inborn genetic diseases ⚠
- p.Gln135His Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Glu485_Ser487del Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Gly351Arg Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Phe460Leu Single submitter Inborn genetic diseases ⚠
- p.Pro696Leu Single submitter Inborn genetic diseases ⚠
- p.Pro717= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ser222Ile Single submitter Inborn genetic diseases ⚠
- p.Ser30= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ser424= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ser567= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ser567Leu Single submitter Inborn genetic diseases ⚠
Benign 45
- c.1898-22T>C Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.2015-143T>C Multiple submitters
- c.2510+65G>A Multiple submitters
- c.2642-37A>G Multiple submitters
- c.2800-191A>G Multiple submitters
- c.-2C>G Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.*1032G>A Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.*1410A>G Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.*2410T>C Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.*2471G>A Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.*412C>T Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.*755A>C Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.*86T>C Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Arg150His Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Asn256Ser Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Asn444Thr Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Asp499= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Pro697= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Pro699= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Thr364= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Tyr804= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Val180Ile Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.1757+240G>A Single submitter
- c.1758-162A>C Single submitter
- c.1758-288A>G Single submitter
- c.1897+155C>T Single submitter
- c.1897+227A>T Single submitter
- c.1898-146A>G Single submitter
- c.2365+202G>T Single submitter
- c.2641+252A>G Single submitter
- c.2642-175C>A Single submitter
- c.-3+10G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.-8A>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1121T>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1165C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1209G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1508A>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1802G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2065A>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2088G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2388T>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*890T>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ile185= Single submitter
- p.Phe859= Single submitter
- p.Ser298= Single submitter
Benign/Likely benign 15
- c.1898-4T>C Multiple submitters pseudohyperaldosteronism type 2
- c.2641+6T>C Multiple submitters
- c.2800-17C>G Multiple submitters
- p.Arg178= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Arg569Gly Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Arg771His Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Asn554Ser Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Gln726= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Glu35Gln Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.His563= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Pro713= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Ser571= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Ser597= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Tyr466= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Val860Ile Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
Likely benign 73
- c.2365+9G>T Multiple submitters
- p.Ala115= Multiple submitters
- p.Asp608= Multiple submitters pseudohyperaldosteronism type 2
- p.Pro957= Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Thr709Met Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Tyr503= Multiple submitters
- c.1758-6C>T Single submitter
- c.2365+12T>A Single submitter
- c.2365+9G>A Single submitter
- c.2510+9C>T Single submitter
- c.2641+13C>T Single submitter
- c.2799+20G>T Single submitter
- c.2800-25_2800-14dup Single submitter
- c.*1352G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1452C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1491G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*7G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ala252= Single submitter
- p.Ala326= Single submitter
- p.Ala762= Single submitter
- p.Arg28His Single submitter Inborn genetic diseases
- p.Asn78Asp Single submitter
- p.Asn78Ser Single submitter Inborn genetic diseases
- p.Asp565= Single submitter
- p.Cys237= Single submitter
- p.Cys639= Single submitter
- p.Glu11= Single submitter
- p.Glu371= Single submitter
- p.Gly479= Single submitter
- p.Gly486= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Gly515= Single submitter
- p.Gly851= Single submitter
- p.Gly974= Single submitter
- p.Ile963= Single submitter
- p.Leu198= Single submitter
- p.Leu469= Single submitter
- p.Leu809= Single submitter
- p.Leu92= Single submitter
- p.Phe423= Single submitter
- p.Pro325= Single submitter
- p.Pro478= Single submitter
- p.Pro551= Single submitter
- p.Pro575= Single submitter
- p.Ser118= Single submitter
- p.Ser152= Single submitter
- p.Ser183= Single submitter
- p.Ser191= Single submitter
- p.Ser270= Single submitter
- p.Ser352Tyr Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ser408= Single submitter
- p.Ser409= Single submitter
- p.Ser419= Single submitter
- p.Ser419Leu Single submitter
- p.Ser456= Single submitter
- p.Ser591= Single submitter
- p.Ser593= Single submitter
- p.Ser718= Single submitter
- p.Ser731= Single submitter
- p.Ser965= Single submitter
- p.Thr201= Single submitter
- p.Thr321= Single submitter
- p.Thr768= Single submitter
- p.Thr85= Single submitter
- p.Thr908= Single submitter
- p.Thr925= Single submitter
- p.Tyr42= Single submitter
- p.Tyr615= Single submitter
- p.Tyr899= Single submitter
- p.Val176Ile Single submitter
- c.-1G>T No assertion criteria NR3C2-related disorder
- p.Arg651= No assertion criteria NR3C2-related disorder
- p.Ser238= No assertion criteria NR3C2-related disorder
- p.Thr822= No assertion criteria NR3C2-related disorder
Uncertain significance 263
- c.*1206G>C Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- c.*804G>T Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
- p.Ala539Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala733Val Multiple submitters ⚠
- p.Asn199Ile Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Asn912Ser Multiple submitters ⚠
- p.Asp38Tyr Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Asp937Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys334Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys73Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln391Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln825Arg Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Glu505Lys Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Glu686Lys Multiple submitters Inborn genetic diseases
- p.Gly488Arg Multiple submitters Inborn genetic diseases ⚠
- p.His685Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile303Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile513Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys775Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro325Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro552Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro575Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro698Ser Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Pro701Arg Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Pro978Leu Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser193Pro Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser312Gly Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser415Arg Multiple submitters pseudohyperaldosteronism type 2 ⚠
- p.Ser718Leu Multiple submitters ⚠
- p.Ser728Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr344Ile Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Thr34Ala Multiple submitters autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Val112Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val781Met Multiple submitters Inborn genetic diseases ⚠
- c.1757+3A>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.1897+15G>A Single submitter
- c.2510+4_2510+7del Single submitter
- c.2799+5G>A Single submitter pseudohyperaldosteronism type 2
- c.-111C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.-14C>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.-238C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.-249C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.-5C>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1019C>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1032G>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1088C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1110C>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*124G>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1290G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1307C>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1327C>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1365G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1406A>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1465G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1471A>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1475T>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1493C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1758A>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1774A>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*1797A>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2289T>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2296T>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2345T>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2354T>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2368C>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2384T>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*2578T>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*324C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*325G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*356A>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*379G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*416T>C Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*519G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*586G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*592G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*6C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*813G>A Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*90A>G Single submitter autosomal dominant pseudohypoaldosteronism type 1
- c.*924C>T Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ala131Pro Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ala369Asp Single submitter ⚠
- p.Ala657Val Single submitter Inborn genetic diseases ⚠
- p.Ala712Ser Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ala712Thr Single submitter Inborn genetic diseases ⚠
- p.Ala722Thr Single submitter Inborn genetic diseases ⚠
- p.Ala733Glu Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ala813Val Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ala951Val Single submitter ⚠
- p.Arg150Cys Single submitter ⚠
- p.Arg178Ser Single submitter NR3C2-related disorder ⚠
- p.Arg244Gln Single submitter ⚠
- p.Arg356Gln Single submitter ⚠
- p.Arg356Trp Single submitter Inborn genetic diseases ⚠
- p.Arg537Gln Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Arg540Thr Single submitter Inborn genetic diseases ⚠
- p.Arg570Ser Single submitter Inborn genetic diseases
- p.Arg651Gln Single submitter ⚠
- p.Arg652Gln Single submitter ⚠
- p.Arg659Gly Single submitter ⚠
- p.Arg673Gln Single submitter pseudohyperaldosteronism type 2 ⚠
- p.Arg732Gln Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Arg771Cys Single submitter Inborn genetic diseases ⚠
- p.Arg771Ser Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Arg80Gln Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Arg947Gln Single submitter Inborn genetic diseases ⚠
- p.Arg947Pro Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Arg983Trp Single submitter Inborn genetic diseases ⚠
- p.Asn123Asp Single submitter ⚠
- p.Asn199Ser Single submitter ⚠
- p.Asn240Asp Single submitter Inborn genetic diseases ⚠
- p.Asn393Lys Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Asn40Ser Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Asn414Ile Single submitter Inborn genetic diseases ⚠
- p.Asn47Lys Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Asn554Thr Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Asn554Tyr Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Asn57Ser Single submitter ⚠
- p.Asn583Ser Single submitter ⚠
- p.Asn770Ser Single submitter ⚠
- p.Asn79Ser Single submitter ⚠
- p.Asn913Ser Single submitter Inborn genetic diseases ⚠
- p.Asp38Asn Single submitter ⚠
- p.Asp403Tyr Single submitter ⚠
- p.Asp454Glu Single submitter Inborn genetic diseases ⚠
- p.Asp541Tyr Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Asp565Asn Single submitter Inborn genetic diseases ⚠
- p.Cys50Phe Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Cys606Tyr Single submitter pseudohyperaldosteronism type 2 ⚠
- p.Cys639Tyr Single submitter ⚠
- p.Cys645Arg Single submitter ⚠
- p.Cys655Arg Single submitter ⚠
- p.Cys808Phe Single submitter ⚠
- p.Cys849Arg Single submitter ⚠
- p.Cys910Trp Single submitter ⚠
- p.Gln135Glu Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Gln365Arg Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Gln370Arg Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Gln370Lys Single submitter Inborn genetic diseases ⚠
- p.Gln542Leu Single submitter ⚠
- p.Gln691Lys Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Gln798Lys Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Glu16Gly Single submitter Inborn genetic diseases ⚠
- p.Glu35Ala Single submitter ⚠
- p.Glu35Gly Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Glu686Gln Single submitter ⚠
- p.Glu763Gln Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Glu948fs Single submitter
- p.Glu948Lys Single submitter ⚠
- p.Gly390Val Single submitter ⚠
- p.Gly455Ser Single submitter Inborn genetic diseases ⚠
- p.Gly500Arg Single submitter Inborn genetic diseases ⚠
- p.Gly520Val Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Gly621Asp Single submitter ⚠
- p.Gly915= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.His249= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.His253Arg Single submitter ⚠
- p.His253Leu Single submitter ⚠
- p.His434Gln Single submitter Inborn genetic diseases ⚠
- p.His563Gln Single submitter Inborn genetic diseases ⚠
- p.His841Pro Single submitter ⚠
- p.His982Tyr Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ile185_Pro192del Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ile185Val Single submitter ⚠
- p.Ile384Leu Single submitter ⚠
- p.Ile427Val Single submitter Inborn genetic diseases ⚠
- p.Ile55Phe Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ile647Val Single submitter ⚠
- p.Ile711Met Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ile745Val Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ile778= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ile88Val Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Leu107_Tyr108insLeu Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Leu355Trp Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Leu473Phe Single submitter ⚠
- p.Leu809Val Single submitter ⚠
- p.Leu97Ile Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Lys464Glu Single submitter Inborn genetic diseases ⚠
- p.Lys67Glu Single submitter Inborn genetic diseases ⚠
- p.Lys715= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Lys905Asn Single submitter ⚠
- p.Lys970Met Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Lys977Arg Single submitter ⚠
- p.Met128Val Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Met200Leu Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Met43Thr Single submitter Inborn genetic diseases ⚠
- p.Met740Ile Single submitter Inborn genetic diseases ⚠
- p.Met777Ile Single submitter ⚠
- p.Met845Arg Single submitter ⚠
- p.Phe956Ile Single submitter ⚠
- p.Pro192Leu Single submitter Inborn genetic diseases ⚠
- p.Pro239Arg Single submitter Inborn genetic diseases ⚠
- p.Pro300Ala Single submitter ⚠
- p.Pro402Leu Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Pro402Thr Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Pro509Arg Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Pro551Arg Single submitter Inborn genetic diseases ⚠
- p.Pro56Ala Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Pro697Leu Single submitter ⚠
- p.Pro701_Gln702insProPro Single submitter
- p.Pro701Leu Single submitter Inborn genetic diseases ⚠
- p.Pro72Arg Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Pro831Thr Single submitter ⚠
- p.Pro978Thr Single submitter Inborn genetic diseases ⚠
- p.Ser152Phe Single submitter ⚠
- p.Ser166Pro Single submitter ⚠
- p.Ser170Arg Single submitter Inborn genetic diseases ⚠
- p.Ser202_Ser203delinsGlu Single submitter
- p.Ser202Cys Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser215Thr Single submitter Inborn genetic diseases ⚠
- p.Ser238Thr Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser23Phe Single submitter NR3C2-related disorder ⚠
- p.Ser248Leu Single submitter ⚠
- p.Ser274Arg Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser335Asn Single submitter Inborn genetic diseases
- p.Ser408Asn Single submitter Inborn genetic diseases ⚠
- p.Ser409Ala Single submitter ⚠
- p.Ser409Pro Single submitter Inborn genetic diseases ⚠
- p.Ser459Pro Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser538Ala Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser538Leu Single submitter Inborn genetic diseases ⚠
- p.Ser562= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Ser586Gly Single submitter Inborn genetic diseases ⚠
- p.Ser593Thr Single submitter Inborn genetic diseases ⚠
- p.Ser64Gly Single submitter Inborn genetic diseases ⚠
- p.Ser810Leu Single submitter pseudohyperaldosteronism type 2 ⚠
- p.Ser930Cys Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Ser936Asn Single submitter Inborn genetic diseases ⚠
- p.Ser936Thr Single submitter Inborn genetic diseases ⚠
- p.Thr153Ile Single submitter ⚠
- p.Thr344Ser Single submitter Inborn genetic diseases ⚠
- p.Thr348Pro Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Thr364Ser Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Thr432Ala Single submitter ⚠
- p.Thr532= Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Thr555Ile Single submitter Inborn genetic diseases ⚠
- p.Thr60Ile Single submitter Inborn genetic diseases ⚠
- p.Thr709Ala Single submitter Inborn genetic diseases ⚠
- p.Trp19Ter Single submitter autosomal dominant pseudohypoaldosteronism type 1
- p.Trp783Leu Single submitter ⚠
- p.Tyr117Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr119His Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Tyr922Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr944Cys Single submitter ⚠
- p.Val112Ala Single submitter ⚠
- p.Val137Ala Single submitter NR3C2-related disorder ⚠
- p.Val225Leu Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Val22Asp Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Val310_Pro313del Single submitter
- p.Val330Ala Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Val359Ile Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Val395Phe Single submitter ⚠
- p.Val48Leu Single submitter Inborn genetic diseases ⚠
- p.Val516Met Single submitter ⚠
- p.Val584Gly Single submitter Inborn genetic diseases
- p.Val584Ile Single submitter ⚠
- p.Val631Glu Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- p.Val739Ile Single submitter Inborn genetic diseases ⚠
- p.Val780= Single submitter
- p.Val954Ala Single submitter ⚠
- p.Val954Ile Single submitter ⚠
- p.Val971Met Single submitter autosomal dominant pseudohypoaldosteronism type 1 ⚠
- c.1758-3C>T No assertion criteria
- p.Ile229Val No assertion criteria myoepithelial tumor ⚠