NR0B1 — 405 ClinVar variants
All ClinVar germline NR0B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
98 Pathogenic · 5 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 15 Conflicting · 22 Benign · 9 Benign/Likely benign · 129 Likely benign · 108 Uncertain significance
Full NR0B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NR0B1 p.Ala170Pro
Conflicting
Single submitter
Inborn genetic diseases
-
NR0B1 p.Ala233Thr
Conflicting
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ala347Glu
Conflicting
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Glu313Asp
Conflicting
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Gly182Ala
Conflicting
Single submitter
Inborn genetic diseases
-
NR0B1 p.His157Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
NR0B1 p.His6Asn
Conflicting
Single submitter
Inborn genetic diseases
-
NR0B1 p.Leu297Pro
Conflicting
Single submitter
NR0B1-related disorder
-
NR0B1 p.Pro345Thr
Conflicting
Single submitter
Inborn genetic diseases
-
NR0B1 p.Pro94Gln
Conflicting
Single submitter
Inborn genetic diseases
-
NR0B1 p.Thr384Ile
Conflicting
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Thr407Ala
Conflicting
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Val126Met
Conflicting
Single submitter
46,XY sex reversal 2
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NR0B1 p.Ala20Gly
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Arg65Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR0B1 p.Glu327Asp
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Glu428Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR0B1 p.Ile452Val
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Leu266Pro
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Pro103Leu
Uncertain significance
Multiple submitters
46,XY sex reversal 2
-
NR0B1 p.Pro121Arg
Uncertain significance
Multiple submitters
NR0B1-related disorder
-
NR0B1 p.Pro188Leu
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Pro335His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR0B1 p.Pro345Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR0B1 p.Ser412Asn
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ser412Gly
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ser86Asn
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ala165Glu
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ala223Thr
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ala233Val
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ala247Glu
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ala92Pro
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Arg174Pro
Uncertain significance
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Arg174Ser
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Arg198His
Uncertain significance
Single submitter
Inborn genetic diseases
- NR0B1 p.Arg230Gln Uncertain significance Single submitter
-
NR0B1 p.Arg450Lys
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Arg51Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NR0B1 p.Asn440Ser Uncertain significance Single submitter
-
NR0B1 p.Cys132Tyr
Uncertain significance
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Gln179Leu
Uncertain significance
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Glu229Gly
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Glu28Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Glu4Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NR0B1 p.Gly110Arg Uncertain significance Single submitter
-
NR0B1 p.Gly182Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Gly183Asp
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Gly183Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Gly190Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Gly190Arg
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Gly261Ser
Uncertain significance
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Gly330Asp
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Gly77Arg
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.His341Arg
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ile361Ser
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ile470Thr
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Leu128Val
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Leu213Phe
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Leu262Arg
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
- NR0B1 p.Leu284Pro Uncertain significance Single submitter
- NR0B1 p.Leu286Pro Uncertain significance Single submitter
-
NR0B1 p.Leu294Pro
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Leu386Arg
Uncertain significance
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Lys367Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NR0B1 p.Phe364Ser Uncertain significance Single submitter
-
NR0B1 p.Phe449Ser
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Pro103Arg
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Pro103Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NR0B1 p.Pro160Ala Uncertain significance Single submitter
-
NR0B1 p.Pro167Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Pro217Arg
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
- NR0B1 p.Pro227Arg Uncertain significance Single submitter
-
NR0B1 p.Pro227Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Pro30Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Pro422Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Pro451Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Ser239Pro
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ser240Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Ser356Phe
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ser370Asn
Uncertain significance
Single submitter
NR0B1-related disorder
-
NR0B1 p.Ser374Asn
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Thr238Ile
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Thr23Met
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Tyr130Cys
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Val115Leu
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Val269Gly
Uncertain significance
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Val397Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Val397Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Val49Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Val60Leu
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Glu52Lys
Uncertain significance
No assertion criteria
NR0B1-related disorder
-
NR0B1 p.Thr193Arg
Uncertain significance
No assertion criteria
X-linked adrenal hypoplasia congenita
Predictors split 26
The independent predictors disagree with each other — read with care.
-
NR0B1 p.Cys200Trp
Benign/Likely benign
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Cys255Phe
Uncertain significance
Multiple submitters
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Gly203Ser
Uncertain significance
Multiple submitters
46,XY sex reversal 2
-
NR0B1 p.Ala292Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Ala300Val
Likely pathogenic
Single submitter
X-linked adrenal hypoplasia congenita
- NR0B1 p.Arg288His Uncertain significance Single submitter
- NR0B1 p.Arg425Ser Uncertain significance Single submitter
-
NR0B1 p.Cys368Phe
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Cys38Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Gln76Arg
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Glu307Gln
Uncertain significance
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Glu313Lys
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Gly57Trp
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ile145Thr
Uncertain significance
Single submitter
46,XY sex reversal 2
-
NR0B1 p.Ile320Asn
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ile320Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Leu321Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Pro279Ser
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Ser42Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR0B1 p.Thr265Ala
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
-
NR0B1 p.Trp105Cys
Conflicting
Single submitter
46,XY sex reversal 2
- NR0B1 p.Tyr399Cys Uncertain significance Single submitter
-
NR0B1 p.Val269Leu
Uncertain significance
Single submitter
X-linked adrenal hypoplasia congenita
- NR0B1 p.Val385Met Uncertain significance Single submitter
-
NR0B1 p.Arg425Ile
Pathogenic
No assertion criteria
X-linked adrenal hypoplasia congenita
- NR0B1 p.Ile452Phe Uncertain significance No assertion criteria
All NR0B1 variants
Pathogenic 98
- p.Cys109Ter Multiple submitters X-linked adrenal hypoplasia congenita
- p.Gln252Ter Multiple submitters X-linked adrenal hypoplasia congenita
- p.Glu307Ter Multiple submitters X-linked adrenal hypoplasia congenita
- p.Gly169fs Multiple submitters NR0B1-related disorder
- p.Gly329fs Multiple submitters X-linked adrenal hypoplasia congenita
- p.Lys184fs Multiple submitters X-linked adrenal hypoplasia congenita
- p.Trp236Ter Multiple submitters X-linked adrenal hypoplasia congenita
- c.1168+1del Single submitter X-linked adrenal hypoplasia congenita
- c.1168+1G>T Single submitter
- c.1169-112_*17delinsTG Single submitter X-linked adrenal hypoplasia congenita
- c.1169-1G>A Single submitter X-linked adrenal hypoplasia congenita
- c.1169-1G>T Single submitter X-linked adrenal hypoplasia congenita
- p.Ala194fs Single submitter
- p.Ala347fs Single submitter 46,XY sex reversal 2
- p.Arg117fs Single submitter
- p.Arg450fs Single submitter X-linked adrenal hypoplasia congenita
- p.Cys135fs Single submitter X-linked adrenal hypoplasia congenita
- p.Cys135Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Cys255Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Cys274Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Cys368Ter Single submitter 46,XY sex reversal 2
- p.Gln142fs Single submitter X-linked adrenal hypoplasia congenita
- p.Gln155_Thr156delinsTer Single submitter
- p.Gln209Ter Single submitter
- p.Gln222Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gln282Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gln301Ter Single submitter 46,XY sex reversal 2
- p.Gln357fs Single submitter NR0B1-related disorder
- p.Gln395Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gln401Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gln408Ter Single submitter
- p.Gln76Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gln9Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Glu185fs Single submitter 46,XY sex reversal 2
- p.Glu348fs Single submitter X-linked adrenal hypoplasia congenita
- p.Glu52fs Single submitter X-linked adrenal hypoplasia congenita
- p.Glu98Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gly183_Lys184insTer Single submitter X-linked adrenal hypoplasia congenita
- p.Gly183fs Single submitter X-linked adrenal hypoplasia congenita
- p.Gly190fs Single submitter 46,XY sex reversal 2
- p.His139_Pro140insTer Single submitter 46,XY sex reversal 2
- p.His423fs Single submitter X-linked adrenal hypoplasia congenita
- p.Leu213fs Single submitter X-linked adrenal hypoplasia congenita
- p.Leu34fs Single submitter
- p.Leu411_Ser412insTer Single submitter X-linked adrenal hypoplasia congenita
- p.Leu411fs Single submitter 46,XY sex reversal 2
- p.Leu429fs Single submitter X-linked adrenal hypoplasia congenita
- p.Leu54fs Single submitter X-linked adrenal hypoplasia congenita
- p.Leu62fs Single submitter X-linked adrenal hypoplasia congenita
- p.Lys249fs Single submitter
- p.Lys367fs Single submitter 46,XY sex reversal 2
- p.Phe201fs Single submitter 46,XY sex reversal 2
- p.Phe434fs Single submitter
- p.Pro335fs Single submitter
- p.Ser431fs Single submitter X-linked adrenal hypoplasia congenita
- p.Thr218fs Single submitter X-linked adrenal hypoplasia congenita
- p.Trp105Ter Single submitter
- p.Trp171fs Single submitter 46,XY sex reversal 2
- p.Trp172Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Trp235fs Single submitter NR0B1-related disorder
- p.Trp291Arg Single submitter X-linked adrenal hypoplasia congenita
- p.Trp291Ser Single submitter X-linked adrenal hypoplasia congenita
- p.Tyr176Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Tyr378Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Tyr91fs Single submitter X-linked adrenal hypoplasia congenita
- p.Tyr91Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Val115fs Single submitter
- p.284LV[1] No assertion criteria X-linked adrenal hypoplasia congenita
- p.Ala93fs No assertion criteria X-linked adrenal hypoplasia congenita
- p.Arg425Ile No assertion criteria X-linked adrenal hypoplasia congenita ⚠
- p.Asn440Ile No assertion criteria X-linked adrenal hypoplasia congenita
- p.Asp459fs No assertion criteria X-linked adrenal hypoplasia congenita
- p.Cys255fs No assertion criteria X-linked adrenal hypoplasia congenita
- p.Gln224Ter No assertion criteria NR0B1-related disorder
- p.Gln252fs No assertion criteria X-linked adrenal hypoplasia congenita
- p.Gln283Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Gln318Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Gln37Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Gly40fs No assertion criteria NR0B1-related disorder
- p.His73fs No assertion criteria X-linked adrenal hypoplasia congenita
- p.Ile439Ser No assertion criteria X-linked adrenal hypoplasia congenita
- p.Leu263Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Leu280fs No assertion criteria X-linked adrenal hypoplasia congenita
- p.Leu381His No assertion criteria X-linked adrenal hypoplasia congenita
- p.Leu447Pro No assertion criteria X-linked adrenal hypoplasia congenita
- p.Lys382Asn No assertion criteria X-linked adrenal hypoplasia congenita
- p.Thr375fs No assertion criteria X-linked adrenal hypoplasia congenita
- p.Thr455fs No assertion criteria X-linked adrenal hypoplasia congenita
- p.Trp171Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Trp235Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Trp291Cys No assertion criteria X-linked adrenal hypoplasia congenita
- p.Trp369Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Trp39Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Tyr197Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Tyr271Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Tyr380Asp No assertion criteria X-linked adrenal hypoplasia congenita
- p.Tyr399Ter No assertion criteria X-linked adrenal hypoplasia congenita
- p.Val269Asp No assertion criteria X-linked adrenal hypoplasia congenita
Pathogenic/Likely pathogenic 5
- c.1168+1_1168+20del Multiple submitters X-linked adrenal hypoplasia congenita
- p.Ala258Asp Multiple submitters NR0B1-related disorder
- p.Arg267Pro Multiple submitters 46,XY sex reversal 2
- p.Arg425Gly Multiple submitters Differences in sex development
- p.Leu381Phe Multiple submitters X-linked adrenal hypoplasia congenita
Likely pathogenic 19
- p.Ter471Gln Multiple submitters X-linked adrenal hypoplasia congenita
- p.Ala300Val Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Cys202Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gln22Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gln276Ter Single submitter NR0B1-related disorder
- p.Gln420Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gly241fs Single submitter NR0B1-related disorder
- p.His206fs Single submitter X-linked adrenal hypoplasia congenita
- p.Leu278Pro Single submitter
- p.Leu365Pro Single submitter X-linked adrenal hypoplasia congenita
- p.Leu381Pro Single submitter X-linked adrenal hypoplasia congenita
- p.Lys270fs Single submitter NR0B1-related disorder
- p.Met1Val Single submitter X-linked adrenal hypoplasia congenita
- p.Pro181fs Single submitter
- p.Ser175fs Single submitter X-linked adrenal hypoplasia congenita
- p.Ter471Glu Single submitter
- p.Thr193fs Single submitter NR0B1-related disorder
- p.Val336fs Single submitter X-linked adrenal hypoplasia congenita
- p.Gln283Pro No assertion criteria X-linked adrenal hypoplasia congenita
Conflicting classifications of pathogenicity 15
- p.Ala170Pro Single submitter Inborn genetic diseases ⚠
- p.Ala233Thr Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ala347Glu Single submitter 46,XY sex reversal 2 ⚠
- p.Asn388= Single submitter 46,XY sex reversal 2
- p.Glu313Asp Single submitter 46,XY sex reversal 2 ⚠
- p.Gly182Ala Single submitter Inborn genetic diseases ⚠
- p.His157Tyr Single submitter Inborn genetic diseases ⚠
- p.His6Asn Single submitter Inborn genetic diseases ⚠
- p.Leu297Pro Single submitter NR0B1-related disorder ⚠
- p.Pro345Thr Single submitter Inborn genetic diseases ⚠
- p.Pro94Gln Single submitter Inborn genetic diseases ⚠
- p.Thr384Ile Single submitter 46,XY sex reversal 2 ⚠
- p.Thr407Ala Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Trp105Cys Single submitter 46,XY sex reversal 2 ⚠
- p.Val126Met Single submitter 46,XY sex reversal 2 ⚠
Benign 22
- p.Arg166= Multiple submitters X-linked adrenal hypoplasia congenita
- p.Cys38= Multiple submitters X-linked adrenal hypoplasia congenita
- p.Leu196= Multiple submitters X-linked adrenal hypoplasia congenita
- p.Val115Ala Multiple submitters X-linked adrenal hypoplasia congenita
- c.1168+10C>G Single submitter X-linked adrenal hypoplasia congenita
- c.*242del Single submitter
- p.Ala118Val Single submitter X-linked adrenal hypoplasia congenita
- p.Ala127Thr Single submitter 46,XY sex reversal 2
- p.Ala242Val Single submitter X-linked adrenal hypoplasia congenita
- p.Arg325Trp Single submitter X-linked adrenal hypoplasia congenita
- p.Arg51Lys Single submitter 46,XY sex reversal 2
- p.Asp390= Single submitter X-linked adrenal hypoplasia congenita
- p.Cys396= Single submitter X-linked adrenal hypoplasia congenita
- p.Glu327Lys Single submitter X-linked adrenal hypoplasia congenita
- p.Glu332Gln Single submitter X-linked adrenal hypoplasia congenita
- p.Ile453= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu248= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu266= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro181= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr32= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr328= Single submitter X-linked adrenal hypoplasia congenita
- p.Val253= Single submitter X-linked adrenal hypoplasia congenita
Benign/Likely benign 9
- p.Ala247Val Multiple submitters X-linked adrenal hypoplasia congenita
- p.Arg58= Multiple submitters X-linked adrenal hypoplasia congenita
- p.Asn331= Multiple submitters X-linked adrenal hypoplasia congenita
- p.Cys200Trp Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Cys290= Multiple submitters X-linked adrenal hypoplasia congenita
- p.Ile470Met Multiple submitters X-linked adrenal hypoplasia congenita
- p.Leu343= Multiple submitters X-linked adrenal hypoplasia congenita
- p.Pro392= Multiple submitters X-linked adrenal hypoplasia congenita
- p.Thr455= Multiple submitters X-linked adrenal hypoplasia congenita
Likely benign 129
- p.Ala223= Multiple submitters X-linked adrenal hypoplasia congenita
- p.His157= Multiple submitters X-linked adrenal hypoplasia congenita
- c.1168+13dup Single submitter X-linked adrenal hypoplasia congenita
- c.1168+13G>T Single submitter X-linked adrenal hypoplasia congenita
- c.1168+7G>T Single submitter 46,XY sex reversal 2
- c.1169-10C>T Single submitter X-linked adrenal hypoplasia congenita
- c.1169-8C>A Single submitter 46,XY sex reversal 2
- p.Ala118= Single submitter X-linked adrenal hypoplasia congenita
- p.Ala127= Single submitter X-linked adrenal hypoplasia congenita
- p.Ala170= Single submitter 46,XY sex reversal 2
- p.Ala194= Single submitter 46,XY sex reversal 2
- p.Ala2= Single submitter X-linked adrenal hypoplasia congenita
- p.Ala233= Single submitter X-linked adrenal hypoplasia congenita
- p.Ala242= Single submitter X-linked adrenal hypoplasia congenita
- p.Ala258= Single submitter 46,XY sex reversal 2
- p.Ala260= Single submitter 46,XY sex reversal 2
- p.Ala300= Single submitter 46,XY sex reversal 2
- p.Ala344= Single submitter
- p.Ala355= Single submitter X-linked adrenal hypoplasia congenita
- p.Ala441= Single submitter X-linked adrenal hypoplasia congenita
- p.Ala92= Single submitter 46,XY sex reversal 2
- p.Ala93= Single submitter X-linked adrenal hypoplasia congenita
- p.Arg141= Single submitter
- p.Arg230= Single submitter 46,XY sex reversal 2
- p.Arg232= Single submitter X-linked adrenal hypoplasia congenita
- p.Arg267= Single submitter 46,XY sex reversal 2
- p.Arg416= Single submitter 46,XY sex reversal 2
- p.Arg51= Single submitter 46,XY sex reversal 2
- p.Arg75= Single submitter 46,XY sex reversal 2
- p.Asn15Ser Single submitter X-linked adrenal hypoplasia congenita
- p.Asn442= Single submitter 46,XY sex reversal 2
- p.Asp138= Single submitter 46,XY sex reversal 2
- p.Cys135= Single submitter X-linked adrenal hypoplasia congenita
- p.Cys215= Single submitter X-linked adrenal hypoplasia congenita
- p.Cys66= Single submitter X-linked adrenal hypoplasia congenita
- p.Cys69= Single submitter X-linked adrenal hypoplasia congenita
- p.Gln208= Single submitter X-linked adrenal hypoplasia congenita
- p.Gln252= Single submitter X-linked adrenal hypoplasia congenita
- p.Gln276= Single submitter X-linked adrenal hypoplasia congenita
- p.Gln340= Single submitter X-linked adrenal hypoplasia congenita
- p.Glu185= Single submitter 46,XY sex reversal 2
- p.Glu229Lys Single submitter 46,XY sex reversal 2
- p.Glu52Ala Single submitter X-linked adrenal hypoplasia congenita
- p.Gly10= Single submitter 46,XY sex reversal 2
- p.Gly106= Single submitter 46,XY sex reversal 2
- p.Gly119= Single submitter X-linked adrenal hypoplasia congenita
- p.Gly122= Single submitter 46,XY sex reversal 2
- p.Gly123= Single submitter 46,XY sex reversal 2
- p.Gly123Arg Single submitter X-linked adrenal hypoplasia congenita
- p.Gly169= Single submitter 46,XY sex reversal 2
- p.Gly241= Single submitter
- p.Gly3= Single submitter X-linked adrenal hypoplasia congenita
- p.Gly393= Single submitter X-linked adrenal hypoplasia congenita
- p.Gly406= Single submitter X-linked adrenal hypoplasia congenita
- p.Gly48= Single submitter 46,XY sex reversal 2
- p.Gly53= Single submitter X-linked adrenal hypoplasia congenita
- p.Gly57= Single submitter 46,XY sex reversal 2
- p.Gly70= Single submitter X-linked adrenal hypoplasia congenita
- p.His341= Single submitter 46,XY sex reversal 2
- p.His419= Single submitter X-linked adrenal hypoplasia congenita
- p.His6= Single submitter 46,XY sex reversal 2
- p.Ile373= Single submitter X-linked adrenal hypoplasia congenita
- p.Ile400Val Single submitter X-linked adrenal hypoplasia congenita
- p.Ile427= Single submitter X-linked adrenal hypoplasia congenita
- p.Ile427Val Single submitter 46,XY sex reversal 2
- p.Ile79= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu101= Single submitter
- p.Leu120= Single submitter 46,XY sex reversal 2
- p.Leu17= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu187= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu195= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu286= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu295= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu297= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu299= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu304= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu403= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu433= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu436= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu466= Single submitter 46,XY sex reversal 2
- p.Leu54= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu62= Single submitter X-linked adrenal hypoplasia congenita
- p.Leu84= Single submitter X-linked adrenal hypoplasia congenita
- p.Lys71= Single submitter X-linked adrenal hypoplasia congenita
- p.Phe201= Single submitter 46,XY sex reversal 2
- p.Phe268= Single submitter 46,XY sex reversal 2
- p.Phe387= Single submitter 46,XY sex reversal 2
- p.Phe438= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro113= Single submitter 46,XY sex reversal 2
- p.Pro121= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro125= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro140= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro160= Single submitter 46,XY sex reversal 2
- p.Pro163= Single submitter 46,XY sex reversal 2
- p.Pro231= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro234= Single submitter 46,XY sex reversal 2
- p.Pro251= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro30= Single submitter 46,XY sex reversal 2
- p.Pro335= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro353= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro74= Single submitter 46,XY sex reversal 2
- p.Pro97= Single submitter X-linked adrenal hypoplasia congenita
- p.Ser108= Single submitter X-linked adrenal hypoplasia congenita
- p.Ser11= Single submitter 46,XY sex reversal 2
- p.Ser144= Single submitter 46,XY sex reversal 2
- p.Ser148= Single submitter 46,XY sex reversal 2
- p.Ser175= Single submitter X-linked adrenal hypoplasia congenita
- p.Ser259= Single submitter 46,XY sex reversal 2
- p.Ser312= Single submitter X-linked adrenal hypoplasia congenita
- p.Ser354= Single submitter X-linked adrenal hypoplasia congenita
- p.Ser356= Single submitter X-linked adrenal hypoplasia congenita
- p.Ser42= Single submitter 46,XY sex reversal 2
- p.Thr100= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr193= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr193Met Single submitter Inborn genetic diseases
- p.Thr218= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr23= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr322= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr322Ser Single submitter X-linked adrenal hypoplasia congenita
- p.Thr323= Single submitter 46,XY sex reversal 2
- p.Thr375= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr415= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr418= Single submitter X-linked adrenal hypoplasia congenita
- p.Thr85= Single submitter X-linked adrenal hypoplasia congenita
- p.Tyr214= Single submitter X-linked adrenal hypoplasia congenita
- p.Tyr64= Single submitter 46,XY sex reversal 2
- p.Val254= Single submitter 46,XY sex reversal 2
- p.Val35= Single submitter X-linked adrenal hypoplasia congenita
- p.Pro245= No assertion criteria NR0B1-related disorder
Uncertain significance 108
- p.Ala20Gly Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Arg65Leu Multiple submitters Inborn genetic diseases ⚠
- p.Cys255Phe Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Glu327Asp Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Glu428Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly203Ser Multiple submitters 46,XY sex reversal 2 ⚠
- p.Ile452Val Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Leu149Phe Multiple submitters 46,XY sex reversal 2
- p.Leu266Pro Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Pro103Leu Multiple submitters 46,XY sex reversal 2 ⚠
- p.Pro121Arg Multiple submitters NR0B1-related disorder ⚠
- p.Pro188Leu Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Pro335His Multiple submitters Inborn genetic diseases ⚠
- p.Pro345Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ser412Asn Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Ser412Gly Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Ser86Asn Multiple submitters X-linked adrenal hypoplasia congenita ⚠
- p.Ala165Glu Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ala223Thr Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ala233Val Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ala247Glu Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ala292Val Single submitter Inborn genetic diseases ⚠
- p.Ala92Pro Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Arg174Pro Single submitter 46,XY sex reversal 2 ⚠
- p.Arg174Ser Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Arg198Gln Single submitter 46,XY sex reversal 2
- p.Arg198His Single submitter Inborn genetic diseases ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg288His Single submitter ⚠
- p.Arg425Ser Single submitter ⚠
- p.Arg450Lys Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Arg51Gly Single submitter Inborn genetic diseases ⚠
- p.Asn440Ser Single submitter ⚠
- p.Cys132Tyr Single submitter 46,XY sex reversal 2 ⚠
- p.Cys368Phe Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Cys38Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys43Ter Single submitter X-linked adrenal hypoplasia congenita
- p.Gln179Leu Single submitter 46,XY sex reversal 2 ⚠
- p.Gln76Arg Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Glu229Gly Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Glu28Gln Single submitter Inborn genetic diseases ⚠
- p.Glu307Gln Single submitter 46,XY sex reversal 2 ⚠
- p.Glu313Lys Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Glu4Lys Single submitter Inborn genetic diseases ⚠
- p.Gly106fs Single submitter X-linked adrenal hypoplasia congenita
- p.Gly110Arg Single submitter ⚠
- p.Gly182Val Single submitter Inborn genetic diseases ⚠
- p.Gly183Asp Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Gly183Ser Single submitter Inborn genetic diseases ⚠
- p.Gly190Ala Single submitter Inborn genetic diseases ⚠
- p.Gly190Arg Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Gly261Ser Single submitter 46,XY sex reversal 2 ⚠
- p.Gly330Asp Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Gly3Glu Single submitter X-linked adrenal hypoplasia congenita
- p.Gly57Trp Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Gly77Arg Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.His341Arg Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ile145Thr Single submitter 46,XY sex reversal 2 ⚠
- p.Ile320Asn Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ile320Phe Single submitter Inborn genetic diseases ⚠
- p.Ile361Ser Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ile470Thr Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Leu128Val Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Leu213Phe Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Leu262Arg Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Leu263Phe Single submitter X-linked adrenal hypoplasia congenita
- p.Leu284Pro Single submitter ⚠
- p.Leu286Pro Single submitter ⚠
- p.Leu294Pro Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Leu321Phe Single submitter Inborn genetic diseases ⚠
- p.Leu386Arg Single submitter 46,XY sex reversal 2 ⚠
- p.Lys367Arg Single submitter Inborn genetic diseases ⚠
- p.Phe364Ser Single submitter ⚠
- p.Phe449Ser Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Pro103Arg Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Pro103Ser Single submitter Inborn genetic diseases ⚠
- p.Pro160Ala Single submitter ⚠
- p.Pro167Leu Single submitter Inborn genetic diseases ⚠
- p.Pro217Arg Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Pro227Arg Single submitter ⚠
- p.Pro227Leu Single submitter Inborn genetic diseases ⚠
- p.Pro279Ser Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Pro30Ala Single submitter Inborn genetic diseases ⚠
- p.Pro422Leu Single submitter Inborn genetic diseases ⚠
- p.Pro451Ala Single submitter Inborn genetic diseases ⚠
- p.Ser239Pro Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ser240Phe Single submitter Inborn genetic diseases ⚠
- p.Ser356Phe Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ser370Asn Single submitter NR0B1-related disorder ⚠
- p.Ser374Asn Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Ser42Ala Single submitter Inborn genetic diseases ⚠
- p.Thr238Ile Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Thr23Met Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Thr265Ala Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Thr407Ser Single submitter Inborn genetic diseases
- p.Tyr130Cys Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Tyr399Cys Single submitter ⚠
- p.Val115Leu Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Val269Gly Single submitter 46,XY sex reversal 2 ⚠
- p.Val269Leu Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Val385Met Single submitter ⚠
- p.Val397Leu Single submitter Inborn genetic diseases ⚠
- p.Val397Met Single submitter Inborn genetic diseases ⚠
- p.Val49Leu Single submitter Inborn genetic diseases ⚠
- p.Val60Leu Single submitter X-linked adrenal hypoplasia congenita ⚠
- p.Glu52Lys No assertion criteria NR0B1-related disorder ⚠
- p.Ile452Phe No assertion criteria ⚠
- p.Thr193Arg No assertion criteria X-linked adrenal hypoplasia congenita ⚠