NR0B2 — 125 ClinVar variants
All ClinVar germline NR0B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
2 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 3 Benign · 1 Benign/Likely benign · 25 Likely benign · 89 Uncertain significance
Full NR0B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NR0B2 p.Ser158Asn
Conflicting
Single submitter
obesity disorder
Predictors lean, ClinVar uncertain 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NR0B2 p.Ala145Val Uncertain significance Multiple submitters
- NR0B2 p.Ala185Thr Uncertain significance Multiple submitters
- NR0B2 p.Ala68Val Uncertain significance Multiple submitters
- NR0B2 p.Arg54Cys Uncertain significance Multiple submitters
- NR0B2 p.Arg85Gln Uncertain significance Multiple submitters
-
NR0B2 p.Arg86Trp
Uncertain significance
Multiple submitters
inherited obesity
- NR0B2 p.Leu235Phe Uncertain significance Multiple submitters
-
NR0B2 p.Leu250Pro
Uncertain significance
Multiple submitters
inherited obesity
- NR0B2 p.Ala104Pro Uncertain significance Single submitter
- NR0B2 p.Ala110Ser Uncertain significance Single submitter
- NR0B2 p.Ala145Glu Uncertain significance Single submitter
- NR0B2 p.Ala19Ser Uncertain significance Single submitter
- NR0B2 p.Ala19Thr Uncertain significance Single submitter
-
NR0B2 p.Ala209Thr
Uncertain significance
Single submitter
NR0B2-related disorder
- NR0B2 p.Ala210Val Uncertain significance Single submitter
-
NR0B2 p.Ala31Thr
Uncertain significance
Single submitter
NR0B2-related disorder
-
NR0B2 p.Arg257Gly
Uncertain significance
Single submitter
NR0B2-related disorder
- NR0B2 p.Arg34Gly Uncertain significance Single submitter
-
NR0B2 p.Arg34Pro
Uncertain significance
Single submitter
NR0B2-related disorder
- NR0B2 p.Arg36Cys Uncertain significance Single submitter
- NR0B2 p.Arg45Gln Uncertain significance Single submitter
- NR0B2 p.Arg85Trp Uncertain significance Single submitter
-
NR0B2 p.Arg86Gln
Uncertain significance
Single submitter
NR0B2-related disorder
- NR0B2 p.Gly130Ala Uncertain significance Single submitter
- NR0B2 p.Gly212Ser Uncertain significance Single submitter
- NR0B2 p.Gly248Ser Uncertain significance Single submitter
- NR0B2 p.Gly251Arg Uncertain significance Single submitter
- NR0B2 p.His53Arg Uncertain significance Single submitter
- NR0B2 p.Ile188Phe Uncertain significance Single submitter
-
NR0B2 p.Ile240Val
Uncertain significance
Single submitter
NR0B2-related disorder
- NR0B2 p.Leu174Pro Uncertain significance Single submitter
-
NR0B2 p.Leu199Pro
Uncertain significance
Single submitter
inherited obesity
- NR0B2 p.Pro115Ser Uncertain significance Single submitter
- NR0B2 p.Pro139Ser Uncertain significance Single submitter
- NR0B2 p.Pro177His Uncertain significance Single submitter
- NR0B2 p.Pro33Ser Uncertain significance Single submitter
- NR0B2 p.Pro74Leu Uncertain significance Single submitter
- NR0B2 p.Pro81Ser Uncertain significance Single submitter
-
NR0B2 p.Tyr166Cys
Uncertain significance
Single submitter
inherited obesity
-
NR0B2 p.Ala247Thr
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Arg17His
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Arg216His
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Arg34Gln
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Arg38His
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Arg57Gln
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Cys151Arg
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Cys200Tyr
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Cys207Tyr
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Gln211Arg
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Glu154Ala
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Gly131Asp
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Leu159Pro
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Leu231Pro
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Leu24Phe
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Leu29Phe
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Leu29Pro
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Leu97Pro
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Pro113Leu
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Pro126Ala
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Pro239Leu
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Thr106Ile
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Val244Leu
Uncertain significance
No assertion criteria
NR0B2-related disorder
Predictors split 20
The independent predictors disagree with each other — read with care.
-
NR0B2 p.Arg238Cys
Uncertain significance
Multiple submitters
obesity disorder
-
NR0B2 p.Arg71Gly
Uncertain significance
Multiple submitters
inherited obesity
-
NR0B2 p.Asp245Gly
Uncertain significance
Multiple submitters
NR0B2-related disorder
- NR0B2 p.Gln84Glu Uncertain significance Multiple submitters
- NR0B2 p.Leu118Val Uncertain significance Multiple submitters
- NR0B2 p.Ala195Ser Uncertain significance Single submitter
-
NR0B2 p.Arg213Cys
Uncertain significance
Single submitter
inherited obesity
-
NR0B2 p.Asn176Lys
Uncertain significance
Single submitter
obesity disorder
- NR0B2 p.Asp178Asn Likely benign Single submitter
- NR0B2 p.Cys41Arg Uncertain significance Single submitter
- NR0B2 p.Cys41Tyr Uncertain significance Single submitter
- NR0B2 p.Leu24Pro Uncertain significance Single submitter
- NR0B2 p.Pro52Leu Uncertain significance Single submitter
- NR0B2 p.Ser75Phe Uncertain significance Single submitter
- NR0B2 p.Val47Ile Uncertain significance Single submitter
-
NR0B2 p.Arg213His
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Arg216Cys
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Arg45Pro
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Cys41Trp
Uncertain significance
No assertion criteria
NR0B2-related disorder
-
NR0B2 p.Pro52Arg
Uncertain significance
No assertion criteria
NR0B2-related disorder
All NR0B2 variants
Pathogenic 2
- p.Phe76fs Single submitter obesity disorder
- p.Arg34Ter No assertion criteria Obesity, mild, early-onset
Likely pathogenic 3
- p.Arg86fs Single submitter inherited obesity
- p.Gln89Ter Single submitter inherited obesity
- p.Leu98fs Single submitter obesity disorder
Conflicting classifications of pathogenicity 2
- p.His53fs Single submitter inherited obesity
- p.Ser158Asn Single submitter obesity disorder ⚠
Benign 3
- p.Gln5Glu Multiple submitters
- p.Gly171Ala Multiple submitters
- p.Thr220Met Single submitter
Benign/Likely benign 1
- p.Pro113= Multiple submitters
Likely benign 25
- c.533-12C>T Single submitter
- p.Asp178Asn Single submitter ⚠
- p.Gln150= Single submitter
- p.Leu224= Single submitter
- p.Leu40= Single submitter
- p.Pro18= Single submitter
- p.Pro46= Single submitter
- p.Tyr22= Single submitter
- p.Val198= Single submitter
- c.533-4A>G No assertion criteria NR0B2-related disorder
- c.-5T>C No assertion criteria NR0B2-related disorder
- c.-8C>A No assertion criteria NR0B2-related disorder
- p.Ala101= No assertion criteria NR0B2-related disorder
- p.Ala51= No assertion criteria NR0B2-related disorder
- p.Cys9= No assertion criteria NR0B2-related disorder
- p.Gln147= No assertion criteria NR0B2-related disorder
- p.Gln43= No assertion criteria NR0B2-related disorder
- p.Gln48= No assertion criteria NR0B2-related disorder
- p.His187= No assertion criteria NR0B2-related disorder
- p.Ile188= No assertion criteria NR0B2-related disorder
- p.Leu135= No assertion criteria NR0B2-related disorder
- p.Phe156= No assertion criteria NR0B2-related disorder
- p.Pro177= No assertion criteria NR0B2-related disorder
- p.Ser142= No assertion criteria NR0B2-related disorder
- p.Val62= No assertion criteria NR0B2-related disorder
Uncertain significance 89
- p.Ala145Val Multiple submitters ⚠
- p.Ala185Thr Multiple submitters ⚠
- p.Ala68Val Multiple submitters ⚠
- p.Arg238Cys Multiple submitters obesity disorder ⚠
- p.Arg54Cys Multiple submitters ⚠
- p.Arg71Gly Multiple submitters inherited obesity ⚠
- p.Arg85Gln Multiple submitters ⚠
- p.Arg86Trp Multiple submitters inherited obesity ⚠
- p.Asp245Gly Multiple submitters NR0B2-related disorder ⚠
- p.Gln84Glu Multiple submitters ⚠
- p.Leu118Val Multiple submitters ⚠
- p.Leu235Phe Multiple submitters ⚠
- p.Leu250Pro Multiple submitters inherited obesity ⚠
- p.Ala104Pro Single submitter ⚠
- p.Ala110Pro Single submitter
- p.Ala110Ser Single submitter ⚠
- p.Ala145= Single submitter
- p.Ala145Glu Single submitter ⚠
- p.Ala195Ser Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Ala19Thr Single submitter ⚠
- p.Ala209Thr Single submitter NR0B2-related disorder ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala31Thr Single submitter NR0B2-related disorder ⚠
- p.Arg213Cys Single submitter inherited obesity ⚠
- p.Arg257Gly Single submitter NR0B2-related disorder ⚠
- p.Arg34Gly Single submitter ⚠
- p.Arg34Pro Single submitter NR0B2-related disorder ⚠
- p.Arg36Cys Single submitter ⚠
- p.Arg45Gln Single submitter ⚠
- p.Arg85Trp Single submitter ⚠
- p.Arg86Gln Single submitter NR0B2-related disorder ⚠
- p.Asn176Lys Single submitter obesity disorder ⚠
- p.Asp252fs Single submitter
- p.Cys41Arg Single submitter ⚠
- p.Cys41Tyr Single submitter ⚠
- p.Gly130Ala Single submitter ⚠
- p.Gly212Ser Single submitter ⚠
- p.Gly248Ser Single submitter ⚠
- p.Gly251Arg Single submitter ⚠
- p.Gly93Asp Single submitter
- p.His53Arg Single submitter ⚠
- p.Ile188Phe Single submitter ⚠
- p.Ile240Val Single submitter NR0B2-related disorder ⚠
- p.Leu174Pro Single submitter ⚠
- p.Leu199Pro Single submitter inherited obesity ⚠
- p.Leu24Pro Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Pro177His Single submitter ⚠
- p.Pro33Ser Single submitter ⚠
- p.Pro52Leu Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser75Phe Single submitter ⚠
- p.Tyr166Cys Single submitter inherited obesity ⚠
- p.Val47Ile Single submitter ⚠
- p.Ala14fs No assertion criteria NR0B2-related disorder
- p.Ala247Thr No assertion criteria NR0B2-related disorder ⚠
- p.Arg17His No assertion criteria NR0B2-related disorder ⚠
- p.Arg213His No assertion criteria NR0B2-related disorder ⚠
- p.Arg216Cys No assertion criteria NR0B2-related disorder ⚠
- p.Arg216His No assertion criteria NR0B2-related disorder ⚠
- p.Arg34Gln No assertion criteria NR0B2-related disorder ⚠
- p.Arg38His No assertion criteria NR0B2-related disorder ⚠
- p.Arg45Pro No assertion criteria NR0B2-related disorder ⚠
- p.Arg57Gln No assertion criteria NR0B2-related disorder ⚠
- p.Cys151Arg No assertion criteria NR0B2-related disorder ⚠
- p.Cys200Tyr No assertion criteria NR0B2-related disorder ⚠
- p.Cys207Tyr No assertion criteria NR0B2-related disorder ⚠
- p.Cys41Trp No assertion criteria NR0B2-related disorder ⚠
- p.Gln211Arg No assertion criteria NR0B2-related disorder ⚠
- p.Glu154Ala No assertion criteria NR0B2-related disorder ⚠
- p.Glu58fs No assertion criteria NR0B2-related disorder
- p.Gly131Asp No assertion criteria NR0B2-related disorder ⚠
- p.Leu159Pro No assertion criteria NR0B2-related disorder ⚠
- p.Leu231Pro No assertion criteria NR0B2-related disorder ⚠
- p.Leu24Phe No assertion criteria NR0B2-related disorder ⚠
- p.Leu29Phe No assertion criteria NR0B2-related disorder ⚠
- p.Leu29Pro No assertion criteria NR0B2-related disorder ⚠
- p.Leu97Pro No assertion criteria NR0B2-related disorder ⚠
- p.Met1Thr No assertion criteria NR0B2-related disorder
- p.Pro113Leu No assertion criteria NR0B2-related disorder ⚠
- p.Pro126Ala No assertion criteria NR0B2-related disorder ⚠
- p.Pro239Leu No assertion criteria NR0B2-related disorder ⚠
- p.Pro52Arg No assertion criteria NR0B2-related disorder ⚠
- p.Thr106Ile No assertion criteria NR0B2-related disorder ⚠
- p.Trp206Ter No assertion criteria NR0B2-related disorder
- p.Val244Leu No assertion criteria NR0B2-related disorder ⚠