CYP11B2 — 627 ClinVar variants
All ClinVar germline CYP11B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →
45 Pathogenic · 19 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 20 Conflicting · 22 Benign · 16 Benign/Likely benign · 304 Likely benign · 160 Uncertain significance
Full CYP11B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 131
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CYP11B2 p.Ala118Thr
Conflicting
Single submitter
Hypoaldosteronism, congenital
-
CYP11B2 p.Ala21Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Ala28Val
Conflicting
Single submitter
corticosterone methyloxidase type 2 deficiency
-
CYP11B2 p.Arg181Gln
Conflicting
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Arg181Trp
Conflicting
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Arg22Gln
Conflicting
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Arg22Trp
Conflicting
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Arg246His
Conflicting
Single submitter
Hypoaldosteronism, congenital
-
CYP11B2 p.Arg282Cys
Conflicting
Single submitter
corticosterone methyloxidase type 2 deficiency
-
CYP11B2 p.Asp147Glu
Conflicting
Single submitter
corticosterone methyloxidase type 1 deficiency
Predictors lean, ClinVar uncertain 97
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CYP11B2 p.Ala165Ser
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ala171Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Ala415Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CYP11B2 p.Arg141Gln Uncertain significance Multiple submitters
-
CYP11B2 p.Arg20Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Arg366Gln
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Arg427Cys
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Glu421Lys
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ile481Leu
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 2 deficiency
-
CYP11B2 p.Leu323Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Lys482Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Phe321Ile
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ser150Leu
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 2 deficiency
-
CYP11B2 p.Ser344Gly
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ser434Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Thr326Met
Uncertain significance
Multiple submitters
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Thr360Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Val290Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Ala180Thr
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ala219Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Ala28Thr
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ala367Val
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ala40Pro
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ala501Glu
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Arg123Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Arg30Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Arg341His
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Arg366Trp
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Arg384Pro
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
- CYP11B2 p.Arg412Pro Uncertain significance Single submitter
-
CYP11B2 p.Arg432Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Arg4Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Arg87His
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Asn413Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Asn503Thr
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Asp261Tyr
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Gln284Glu
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
- CYP11B2 p.Gln404Arg Uncertain significance Single submitter
-
CYP11B2 p.Gln404His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Glu298Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Glu343Val
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Glu361Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Glu421Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Glu62Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Gly267Ser
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
- CYP11B2 p.Gly314Arg Uncertain significance Single submitter
-
CYP11B2 p.Gly433Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Gly60Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.His107Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.His225Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B2 p.His285Gln Uncertain significance Single submitter
-
CYP11B2 p.His440Gln
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.His69Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Ile197Met
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B2 p.Ile197Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Ile274Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Ile397Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Leu186Pro
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Leu18Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Leu227Pro
Uncertain significance
Single submitter
CYP11B2-related disorder
- CYP11B2 p.Leu327Pro Uncertain significance Single submitter
-
CYP11B2 p.Leu340Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Leu36Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Met41Val
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Met88Val
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
- CYP11B2 p.Met92Thr Uncertain significance Single submitter
- CYP11B2 p.Phe445Ser Uncertain significance Single submitter
-
CYP11B2 p.Pro425Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Ser150Thr
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ser200Cys
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Ser434Pro
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Thr34Met
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Thr71Asn
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Tyr485Cys
Uncertain significance
Single submitter
corticosterone methyloxidase type 2 deficiency
-
CYP11B2 p.Val212Ala
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
- CYP11B2 p.Val35Gly Uncertain significance Single submitter
-
CYP11B2 p.Val378Ala
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Val473Glu
Uncertain significance
Single submitter
CYP11B2-related disorder
-
CYP11B2 p.Ala23Ser
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Ala415Gly
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Ala458Ser
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Arg166Gly
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Arg427Leu
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Asn281Thr
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Glu198Gly
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Gly379Ser
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Gly411Ser
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.His465Pro
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Ile502Thr
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Leu301Val
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Leu382Val
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Leu50Val
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Met447Ile
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Pro151Leu
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Ser17Tyr
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Ser233Phe
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Thr71Ser
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
Predictors split 24
The independent predictors disagree with each other — read with care.
-
CYP11B2 p.Glu198Asp
Pathogenic/Likely pathogenic
Multiple submitters
CYP11B2-related disorders
-
CYP11B2 p.Glu474Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Leu375Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B2 p.Thr185Ile
Pathogenic
Multiple submitters
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Arg341Cys
Conflicting
Single submitter
corticosterone methyloxidase type 2 deficiency
-
CYP11B2 p.Arg384Gln
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Glu474Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Glu95Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.His465Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Leu209Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Leu362Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B2 p.Leu451Phe Likely pathogenic Single submitter
-
CYP11B2 p.Met325Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B2 p.Phe130Leu Uncertain significance Single submitter
-
CYP11B2 p.Pro159Leu
Likely benign
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B2 p.Pro334Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Pro355Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B2 p.Pro37Leu Uncertain significance Single submitter
-
CYP11B2 p.Pro418Arg
Uncertain significance
Single submitter
corticosterone methyloxidase type 1 deficiency
-
CYP11B2 p.Val316Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B2 p.Ala153Thr
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Ala226Val
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Gln178Pro
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
-
CYP11B2 p.Lys273Glu
Uncertain significance
No assertion criteria
Corticosterone methyl oxidase type II deficiency
All CYP11B2 variants
Pathogenic 45
- c.1398+1G>C Multiple submitters Corticosterone methyl oxidase type II deficiency
- c.1398+2T>G Multiple submitters Corticosterone methyl oxidase type II deficiency
- c.240-1G>C Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Arg384Ter Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Gln170Ter Multiple submitters corticosterone methyloxidase type 2 deficiency
- p.Gln337Ter Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Gln426Ter Multiple submitters CYP11B2-related disorder
- p.Ile263Asn Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Thr185Ile Multiple submitters Corticosterone methyl oxidase type II deficiency ⚠
- c.1200+1G>T Single submitter Corticosterone methyl oxidase type II deficiency
- c.240-1G>A Single submitter
- c.240-1G>T Single submitter
- c.595+1del Single submitter
- p.Ala306fs Single submitter
- p.Ala415fs Single submitter
- p.Arg22fs Single submitter corticosterone methyloxidase type 1 deficiency
- p.Arg27Ter Single submitter
- p.Arg282fs Single submitter
- p.Asp167fs Single submitter
- p.Cys10Ter Single submitter
- p.Gln178fs Single submitter
- p.Gln265Ter Single submitter CYP11B2-related disorder
- p.Gln356Ter Single submitter
- p.Gln73Ter Single submitter
- p.Glu298Ter Single submitter
- p.Ile339Ter Single submitter
- p.Leu299fs Single submitter
- p.Leu327fs Single submitter
- p.Leu345fs Single submitter
- p.Leu362fs Single submitter
- p.Leu36fs Single submitter
- p.Leu373fs Single submitter
- p.Leu382fs Single submitter
- p.Leu416Ter Single submitter
- p.Phe280fs Single submitter
- p.Phe328fs Single submitter
- p.Pro115fs Single submitter
- p.Pro216fs Single submitter
- p.Pro491Ser Single submitter CYP11B2-related disorder
- p.Ser150Ter Single submitter
- p.Ser183fs Single submitter CYP11B2-related disorder
- p.Thr185fs Single submitter
- p.Thr318= Single submitter CYP11B2-related disorder
- p.Tyr61fs Single submitter
- p.Val35fs No assertion criteria corticosterone methyloxidase type 1 deficiency
Pathogenic/Likely pathogenic 19
- c.1398+1G>A Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.240-2A>G Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.240del Multiple submitters Corticosterone methyl oxidase type II deficiency
- c.799+1G>A Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Arg141Ter Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Gln102Ter Multiple submitters CYP11B2-related disorder
- p.Gln178Ter Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Glu198Asp Multiple submitters CYP11B2-related disorders ⚠
- p.Gly46_Asn47insTer Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Gly85fs Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Ile488fs Multiple submitters CYP11B2-related disorder
- p.Leu496fs Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Lys175del Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Lys254Ter Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Ser243fs Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Ser308Pro Multiple submitters Corticosterone methyl oxidase type II deficiency
- p.Ser315Arg Multiple submitters CYP11B2-related disorders
- p.Thr318Met Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Trp260Ter Multiple submitters Corticosterone methyl oxidase type II deficiency
Likely pathogenic 41
- c.1201-2A>C Multiple submitters Corticosterone methyl oxidase type II deficiency
- c.239+2T>C Multiple submitters Corticosterone methyl oxidase type II deficiency
- c.395+1_395+2del Multiple submitters CYP11B2-related disorders
- c.395+1G>A Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Arg374Gln Multiple submitters CYP11B2-related disorders
- p.Leu464dup Multiple submitters
- c.1122-16_1135dup Single submitter CYP11B2-related disorder
- c.239+1G>C Single submitter Corticosterone methyl oxidase type II deficiency
- c.239+2T>A Single submitter
- c.395+1G>T Single submitter
- c.396-2A>C Single submitter Corticosterone methyl oxidase type II deficiency
- c.396-2A>G Single submitter corticosterone methyloxidase type 1 deficiency
- c.595+1G>T Single submitter
- c.595+2T>C Single submitter
- c.596-1G>T Single submitter
- c.596-2A>G Single submitter
- c.800-1G>T Single submitter
- c.800-2A>G Single submitter Corticosterone methyl oxidase type II deficiency
- c.955-1G>A Single submitter Corticosterone methyl oxidase type II deficiency
- p.Ala367fs Single submitter Corticosterone methyl oxidase type II deficiency
- p.Arg374Gly Single submitter CYP11B2-related disorder
- p.Arg374Trp Single submitter Corticosterone methyl oxidase type II deficiency
- p.Arg448Cys Single submitter Corticosterone methyl oxidase type II deficiency
- p.Arg448Gly Single submitter CYP11B2-related disorder
- p.Arg4fs Single submitter corticosterone methyloxidase type 1 deficiency
- p.Cys450Tyr Single submitter
- p.Gln19Ter Single submitter corticosterone methyloxidase type 1 deficiency
- p.Gln54Ter Single submitter Corticosterone methyl oxidase type II deficiency
- p.Glu136Ter Single submitter Corticosterone methyl oxidase type II deficiency
- p.Glu258Ter Single submitter Corticosterone methyl oxidase type II deficiency
- p.Gly134Arg Single submitter CYP11B2-related disorder
- p.Ile397Asn Single submitter CYP11B2-related disorder
- p.Leu202Ter Single submitter Corticosterone methyl oxidase type II deficiency
- p.Leu451Phe Single submitter ⚠
- p.Met1Thr Single submitter corticosterone methyloxidase type 1 deficiency
- p.Phe193fs Single submitter Corticosterone methyl oxidase type II deficiency
- p.Trp49fs Single submitter Corticosterone methyl oxidase type II deficiency
- p.Trp56Ter Single submitter Corticosterone methyl oxidase type II deficiency
- p.Tyr266Ter Single submitter Corticosterone methyl oxidase type II deficiency
- p.Tyr376Ter Single submitter corticosterone methyloxidase type 1 deficiency
- p.Val484fs Single submitter Corticosterone methyl oxidase type II deficiency
Conflicting classifications of pathogenicity 20
- c.1398+10C>T Single submitter corticosterone methyloxidase type 2 deficiency
- c.800-11T>G Single submitter corticosterone methyloxidase type 1 deficiency
- c.*566C>T Single submitter corticosterone methyloxidase type 1 deficiency
- p.Ala118Thr Single submitter Hypoaldosteronism, congenital ⚠
- p.Ala165Thr Single submitter CYP11B2-related disorders
- p.Ala21Thr Single submitter Inborn genetic diseases ⚠
- p.Ala28= Single submitter corticosterone methyloxidase type 1 deficiency
- p.Ala28Val Single submitter corticosterone methyloxidase type 2 deficiency ⚠
- p.Arg181Gln Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg181Pro Single submitter corticosterone methyloxidase type 2 deficiency
- p.Arg181Trp Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg22Gln Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg22Trp Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg246His Single submitter Hypoaldosteronism, congenital ⚠
- p.Arg282Cys Single submitter corticosterone methyloxidase type 2 deficiency ⚠
- p.Arg341Cys Single submitter corticosterone methyloxidase type 2 deficiency ⚠
- p.Asp147Glu Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Glu114= Single submitter glucocorticoid-remediable aldosteronism
- p.Leu53= Single submitter corticosterone methyloxidase type 2 deficiency
- p.Pro159= Single submitter glucocorticoid-remediable aldosteronism
Benign 22
- c.1122-10C>T Multiple submitters
- c.1122-126T>C Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.1122-20A>G Multiple submitters corticosterone methyloxidase type 2 deficiency
- c.1122-48A>G Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.1122-90C>G Multiple submitters corticosterone methyloxidase type 2 deficiency
- c.955-77A>C Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.*744G>A Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.*81G>A Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Ala291= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Ile339Thr Multiple submitters corticosterone methyloxidase type 2 deficiency
- p.Phe168= Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.1200+20del Single submitter
- c.1201-19T>C Single submitter
- c.1398+17del Single submitter
- c.396-191T>C Single submitter corticosterone methyloxidase type 1 deficiency
- c.396-262G>A Single submitter corticosterone methyloxidase type 1 deficiency
- c.396-303C>T Single submitter corticosterone methyloxidase type 1 deficiency
- c.596-5del Single submitter
- c.-344T>C Single submitter
- p.Asp96= Single submitter
- p.Leu324= Single submitter
- p.Pro45= Single submitter
Benign/Likely benign 16
- c.240-9del Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.800-19T>C Multiple submitters
- p.Ala297= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Ala29Thr Multiple submitters corticosterone methyloxidase type 2 deficiency
- p.Arg30Gln Multiple submitters glucocorticoid-remediable aldosteronism
- p.Arg57= Multiple submitters
- p.Asn281Ser Multiple submitters glucocorticoid-remediable aldosteronism
- p.Asn424= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.His214Asp Multiple submitters glucocorticoid-remediable aldosteronism
- p.Ile339Val Multiple submitters
- p.Leu202= Multiple submitters corticosterone methyloxidase type 2 deficiency
- p.Leu382= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Leu451= Multiple submitters corticosterone methyloxidase type 2 deficiency
- p.Ser315= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Tyr266= Multiple submitters
- p.Tyr275= Multiple submitters
Likely benign 304
Showing the top 300 by review status; the full set is in the sitemap.
- c.395+19G>C Multiple submitters
- c.799+10G>C Multiple submitters corticosterone methyloxidase type 1 deficiency
- c.799+17G>A Multiple submitters
- c.800-7T>C Multiple submitters
- c.800-8C>T Multiple submitters
- p.Ala31= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Ala347= Multiple submitters
- p.Ala414Pro Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Ala501= Multiple submitters
- p.Arg48= Multiple submitters corticosterone methyloxidase type 2 deficiency
- p.Asn179= Multiple submitters
- p.Asn413= Multiple submitters
- p.Cys262= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Gly267= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.His440= Multiple submitters
- p.Leu345= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Leu489= Multiple submitters
- p.Phe79= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Ser409= Multiple submitters
- p.Thr326= Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Val235Ile Multiple submitters
- p.Val403= Multiple submitters
- p.Val405= Multiple submitters
- c.1121+11G>A Single submitter
- c.1121+15A>G Single submitter
- c.1121+19C>T Single submitter
- c.1121+8C>G Single submitter
- c.1121+9T>C Single submitter
- c.1122-12C>T Single submitter
- c.1122-16A>G Single submitter
- c.1122-4C>T Single submitter
- c.1122-6C>T Single submitter
- c.1122-7C>T Single submitter
- c.1200+10C>T Single submitter
- c.1200+11C>A Single submitter
- c.1200+13C>T Single submitter
- c.1200+17C>A Single submitter
- c.1200+18C>A Single submitter
- c.1200+19C>A Single submitter
- c.1201-10C>T Single submitter
- c.1201-13G>A Single submitter
- c.1201-4G>A Single submitter
- c.1201-6C>T Single submitter
- c.1201-9C>T Single submitter
- c.1398+12T>A Single submitter
- c.1398+12T>C Single submitter
- c.1398+14G>A Single submitter
- c.1398+16_1398+17del Single submitter
- c.1398+17G>A Single submitter
- c.1398+17G>C Single submitter
- c.1398+19G>T Single submitter
- c.1398+7A>C Single submitter
- c.1398+7A>G Single submitter
- c.1398+9G>A Single submitter
- c.1399-12C>T Single submitter
- c.1399-15C>G Single submitter
- c.239+8C>A Single submitter
- c.239+8C>T Single submitter
- c.239+9C>T Single submitter
- c.240-12T>A Single submitter
- c.240-13C>T Single submitter
- c.240-14G>C Single submitter
- c.240-16C>G Single submitter
- c.240-16C>T Single submitter
- c.240-20C>T Single submitter
- c.240-6C>A Single submitter
- c.240-6C>T Single submitter
- c.240-8C>T Single submitter
- c.240-9G>A Single submitter
- c.395+10G>C Single submitter
- c.395+10G>T Single submitter
- c.395+13_395+19del Single submitter
- c.395+16_395+17del Single submitter
- c.395+9C>A Single submitter
- c.396-10G>A Single submitter
- c.396-12T>C Single submitter
- c.396-15C>A Single submitter
- c.396-4G>A Single submitter
- c.396-5T>C Single submitter
- c.396-6C>T Single submitter
- c.396-8C>T Single submitter
- c.595+11T>C Single submitter
- c.595+13C>T Single submitter
- c.595+19G>A Single submitter
- c.595+20G>A Single submitter
- c.595+7G>A Single submitter
- c.596-10C>G Single submitter
- c.596-10C>T Single submitter
- c.596-10del Single submitter
- c.596-15G>A Single submitter
- c.596-17G>A Single submitter
- c.596-17G>C Single submitter
- c.596-4G>A Single submitter
- c.596-5C>T Single submitter
- c.596-9T>A Single submitter
- c.799+12G>C Single submitter
- c.799+14C>A Single submitter
- c.799+14C>T Single submitter
- c.799+15C>T Single submitter
- c.799+17G>C Single submitter
- c.799+18G>T Single submitter
- c.799+19G>A Single submitter
- c.799+8C>T Single submitter
- c.800-10C>T Single submitter
- c.800-12C>T Single submitter
- c.800-13G>A Single submitter
- c.800-15_800-14del Single submitter
- c.800-15C>G Single submitter
- c.800-16C>G Single submitter
- c.800-16C>T Single submitter
- c.800-17C>T Single submitter
- c.800-20_800-19insCC Single submitter
- c.800-20G>T Single submitter
- c.800-4A>G Single submitter
- c.954+11C>T Single submitter
- c.954+12A>C Single submitter
- c.954+15C>G Single submitter
- c.954+16A>G Single submitter
- c.954+19C>G Single submitter
- c.954+19C>T Single submitter
- c.954+9A>G Single submitter
- c.955-10G>A Single submitter
- c.955-14C>T Single submitter
- c.955-4G>A Single submitter
- c.955-5T>C Single submitter
- c.955-7T>C Single submitter
- c.955-9C>T Single submitter
- p.Ala13= Single submitter corticosterone methyloxidase type 1 deficiency
- p.Ala153= Single submitter
- p.Ala180= Single submitter
- p.Ala199= Single submitter
- p.Ala226= Single submitter
- p.Ala23= Single submitter
- p.Ala259= Single submitter
- p.Ala313= Single submitter
- p.Ala320= Single submitter
- p.Ala346= Single submitter
- p.Ala348= Single submitter
- p.Ala358= Single submitter
- p.Ala399= Single submitter
- p.Ala414= Single submitter
- p.Ala456= Single submitter
- p.Arg20= Single submitter
- p.Arg208= Single submitter
- p.Arg22= Single submitter
- p.Arg242= Single submitter
- p.Arg332Trp Single submitter
- p.Arg341= Single submitter
- p.Arg366= Single submitter
- p.Arg412= Single submitter
- p.Arg422= Single submitter
- p.Arg453= Single submitter
- p.Arg500= Single submitter
- p.Arg80= Single submitter Inborn genetic diseases
- p.Arg87= Single submitter
- p.Asn133= Single submitter
- p.Asn333= Single submitter
- p.Asn503= Single submitter
- p.Asn82= Single submitter
- p.Asp167= Single submitter
- p.Asp187= Single submitter
- p.Asp261= Single submitter
- p.Asp335= Single submitter
- p.Asp389= Single submitter
- p.Asp430= Single submitter
- p.Asp480= Single submitter
- p.Cys10= Single submitter
- p.Cys109Arg Single submitter
- p.Cys109Tyr Single submitter
- p.Cys10Trp Single submitter Inborn genetic diseases
- p.Cys450= Single submitter
- p.Gln189= Single submitter
- p.Gln337= Single submitter
- p.Glu136= Single submitter
- p.Glu207= Single submitter
- p.Glu228= Single submitter
- p.Glu258= Single submitter
- p.Glu329= Single submitter
- p.Glu361= Single submitter
- p.Glu457= Single submitter
- p.Glu459= Single submitter
- p.Glu58= Single submitter
- p.Glu67= Single submitter
- p.Glu74= Single submitter
- p.Glu98= Single submitter
- p.Gly128= Single submitter
- p.Gly182= Single submitter
- p.Gly210= Single submitter
- p.Gly25= Single submitter
- p.Gly314= Single submitter
- p.Gly435= Single submitter
- p.Gly435Ser Single submitter
- p.Gly444= Single submitter
- p.Gly452= Single submitter
- p.Gly492= Single submitter
- p.Gly60= Single submitter
- p.Gly76= Single submitter
- p.His194= Single submitter
- p.His194Tyr Single submitter
- p.His225= Single submitter
- p.His256= Single submitter
- p.His439= Single submitter
- p.His44= Single submitter
- p.His466= Single submitter
- p.His65= Single submitter
- p.His69= Single submitter
- p.Ile248= Single submitter
- p.Ile289= Single submitter
- p.Ile304= Single submitter
- p.Ile339= Single submitter
- p.Ile431= Single submitter
- p.Leu100= Single submitter
- p.Leu113= Single submitter
- p.Leu158= Single submitter
- p.Leu177= Single submitter
- p.Leu18= Single submitter
- p.Leu184= Single submitter
- p.Leu186= Single submitter
- p.Leu209= Single submitter
- p.Leu211= Single submitter
- p.Leu224= Single submitter
- p.Leu237= Single submitter
- p.Leu293= Single submitter
- p.Leu294= Single submitter
- p.Leu327= Single submitter
- p.Leu330= Single submitter
- p.Leu340= Single submitter
- p.Leu362= Single submitter
- p.Leu364= Single submitter
- p.Leu365= Single submitter
- p.Leu392= Single submitter
- p.Leu407= Single submitter
- p.Leu462= Single submitter
- p.Leu464= Single submitter
- p.Leu472= Single submitter
- p.Leu476= Single submitter
- p.Leu50= Single submitter
- p.Leu52= Single submitter
- p.Leu64= Single submitter
- p.Leu66= Single submitter
- p.Leu75= Single submitter
- p.Leu93= Single submitter
- p.Lys173Arg Single submitter
- p.Lys251= Single submitter
- p.Lys254= Single submitter
- p.Lys469= Single submitter
- p.Lys99= Single submitter
- p.Phe130= Single submitter
- p.Phe157= Single submitter
- p.Phe417= Single submitter
- p.Phe438= Single submitter
- p.Phe443= Single submitter
- p.Phe487= Single submitter
- p.Pro108= Single submitter
- p.Pro135= Single submitter
- p.Pro151= Single submitter
- p.Pro159Leu Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Pro322= Single submitter
- p.Pro334= Single submitter
- p.Pro37= Single submitter
- p.Pro418= Single submitter
- p.Pro420= Single submitter
- p.Pro495= Single submitter
- p.Pro86= Single submitter
- p.Pro94= Single submitter
- p.Ser150= Single submitter
- p.Ser169= Single submitter
- p.Ser191= Single submitter
- p.Ser215= Single submitter
- p.Ser217= Single submitter
- p.Ser218= Single submitter
- p.Ser220= Single submitter
- p.Ser243= Single submitter
- p.Ser300= Single submitter
- p.Ser308= Single submitter
- p.Ser344= Single submitter
- p.Ser434= Single submitter
- p.Ser486= Single submitter
- p.Thr319= Single submitter
- p.Thr34= Single submitter
- p.Thr359= Single submitter
- p.Thr493= Single submitter
- p.Tyr286= Single submitter
- p.Tyr376= Single submitter
- p.Tyr395= Single submitter
- p.Val103= Single submitter
- p.Val148= Single submitter
- p.Val164= Single submitter
- p.Val188= Single submitter
- p.Val235= Single submitter
- p.Val252= Single submitter
- p.Val290= Single submitter
- p.Val316= Single submitter
- p.Val336= Single submitter
- p.Val35= Single submitter
- p.Val378= Single submitter
- p.Val386= Single submitter
- p.Val386Ala Single submitter
- p.Val441= Single submitter
- p.Val484= Single submitter
Uncertain significance 160
- c.800-3C>T Multiple submitters
- c.954+7C>T Multiple submitters corticosterone methyloxidase type 2 deficiency
- p.Ala165Ser Multiple submitters corticosterone methyloxidase type 1 deficiency ⚠
- p.Ala171Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala415Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg141Gln Multiple submitters ⚠
- p.Arg20Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg366Gln Multiple submitters corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg427Cys Multiple submitters corticosterone methyloxidase type 1 deficiency ⚠
- p.Glu421Lys Multiple submitters corticosterone methyloxidase type 1 deficiency ⚠
- p.Glu474Lys Multiple submitters Inborn genetic diseases ⚠
- p.Ile481Leu Multiple submitters corticosterone methyloxidase type 2 deficiency ⚠
- p.Leu323Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu375Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys482Asn Multiple submitters Inborn genetic diseases ⚠
- p.Phe321Ile Multiple submitters corticosterone methyloxidase type 1 deficiency ⚠
- p.Ser150Leu Multiple submitters corticosterone methyloxidase type 2 deficiency ⚠
- p.Ser344Gly Multiple submitters corticosterone methyloxidase type 1 deficiency ⚠
- p.Ser434Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Thr326Met Multiple submitters corticosterone methyloxidase type 1 deficiency ⚠
- p.Thr360Asn Multiple submitters Inborn genetic diseases ⚠
- p.Tyr266Asp Multiple submitters corticosterone methyloxidase type 1 deficiency
- p.Val290Met Multiple submitters Inborn genetic diseases ⚠
- c.1122-11C>A Single submitter corticosterone methyloxidase type 1 deficiency
- c.1398+2T>A Single submitter corticosterone methyloxidase type 1 deficiency
- c.1398+3A>G Single submitter
- c.595+15G>T Single submitter glucocorticoid-remediable aldosteronism
- c.596-13A>T Single submitter corticosterone methyloxidase type 1 deficiency
- c.596-4G>T Single submitter corticosterone methyloxidase type 1 deficiency
- c.596-8_596-7delinsAG Single submitter
- c.800-13G>C Single submitter corticosterone methyloxidase type 1 deficiency
- c.*1047C>T Single submitter corticosterone methyloxidase type 1 deficiency
- c.*1277G>A Single submitter corticosterone methyloxidase type 2 deficiency
- c.*1340T>A Single submitter corticosterone methyloxidase type 2 deficiency
- c.*204C>G Single submitter corticosterone methyloxidase type 1 deficiency
- c.*205G>A Single submitter corticosterone methyloxidase type 2 deficiency
- c.*25A>C Single submitter corticosterone methyloxidase type 2 deficiency
- c.*591T>G Single submitter corticosterone methyloxidase type 2 deficiency
- c.*613C>T Single submitter corticosterone methyloxidase type 2 deficiency
- c.*743C>T Single submitter corticosterone methyloxidase type 1 deficiency
- c.*746G>A Single submitter corticosterone methyloxidase type 1 deficiency
- c.*759A>T Single submitter corticosterone methyloxidase type 2 deficiency
- c.*789G>A Single submitter corticosterone methyloxidase type 1 deficiency
- c.*876C>A Single submitter corticosterone methyloxidase type 2 deficiency
- c.*879G>A Single submitter glucocorticoid-remediable aldosteronism
- c.*993A>G Single submitter corticosterone methyloxidase type 2 deficiency
- p.Ala180Thr Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Ala219Val Single submitter Inborn genetic diseases ⚠
- p.Ala28Thr Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Ala367Val Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Ala40Pro Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Ala501Glu Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg123Cys Single submitter Inborn genetic diseases ⚠
- p.Arg30Trp Single submitter Inborn genetic diseases ⚠
- p.Arg341His Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg366Trp Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg374= Single submitter corticosterone methyloxidase type 1 deficiency
- p.Arg384Gln Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg384Pro Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Arg412Pro Single submitter ⚠
- p.Arg432Ser Single submitter Inborn genetic diseases ⚠
- p.Arg4Ser Single submitter Inborn genetic diseases ⚠
- p.Arg87His Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Asn413Asp Single submitter Inborn genetic diseases ⚠
- p.Asn503Thr Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Asp261Tyr Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Asp96Ala Single submitter corticosterone methyloxidase type 1 deficiency
- p.Cys109His Single submitter
- p.Gln284Glu Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Gln404Arg Single submitter ⚠
- p.Gln404His Single submitter Inborn genetic diseases ⚠
- p.Glu298Gln Single submitter Inborn genetic diseases ⚠
- p.Glu343Val Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Glu361Asp Single submitter Inborn genetic diseases ⚠
- p.Glu421Asp Single submitter Inborn genetic diseases ⚠
- p.Glu474fs Single submitter
- p.Glu474Gly Single submitter Inborn genetic diseases ⚠
- p.Glu62Lys Single submitter Inborn genetic diseases ⚠
- p.Glu95Lys Single submitter Inborn genetic diseases ⚠
- p.Gly267Ser Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Gly314Arg Single submitter ⚠
- p.Gly379Val Single submitter glucocorticoid-remediable aldosteronism
- p.Gly433Cys Single submitter Inborn genetic diseases ⚠
- p.Gly60Asp Single submitter Inborn genetic diseases ⚠
- p.His107Tyr Single submitter Inborn genetic diseases ⚠
- p.His225Gln Single submitter Inborn genetic diseases ⚠
- p.His285Gln Single submitter ⚠
- p.His440Gln Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.His465Tyr Single submitter Inborn genetic diseases ⚠
- p.His69Gln Single submitter Inborn genetic diseases ⚠
- p.Ile197Met Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Ile197Thr Single submitter Inborn genetic diseases ⚠
- p.Ile274Thr Single submitter Inborn genetic diseases ⚠
- p.Ile339Ala Single submitter
- p.Ile397Thr Single submitter Inborn genetic diseases ⚠
- p.Leu186Pro Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Leu18Pro Single submitter Inborn genetic diseases ⚠
- p.Leu209Val Single submitter Inborn genetic diseases ⚠
- p.Leu227Pro Single submitter CYP11B2-related disorder ⚠
- p.Leu327Pro Single submitter ⚠
- p.Leu340Val Single submitter Inborn genetic diseases ⚠
- p.Leu362Val Single submitter Inborn genetic diseases ⚠
- p.Leu36Arg Single submitter Inborn genetic diseases ⚠
- p.Met325Lys Single submitter Inborn genetic diseases ⚠
- p.Met41Val Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Met68Arg Single submitter Inborn genetic diseases
- p.Met88Val Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Met92Thr Single submitter ⚠
- p.Phe130Leu Single submitter ⚠
- p.Phe445Ser Single submitter ⚠
- p.Pro159Arg Single submitter familial hyperreninemic hypoaldosteronism type 2
- p.Pro334Thr Single submitter Inborn genetic diseases ⚠
- p.Pro355Thr Single submitter Inborn genetic diseases ⚠
- p.Pro37Leu Single submitter ⚠
- p.Pro418Arg Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Pro425Thr Single submitter Inborn genetic diseases ⚠
- p.Ser150Thr Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Ser200Cys Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Ser434Pro Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Thr34Met Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Thr401Ile Single submitter Inborn genetic diseases
- p.Thr71Asn Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Tyr485Cys Single submitter corticosterone methyloxidase type 2 deficiency ⚠
- p.Val212Ala Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Val316Met Single submitter Inborn genetic diseases ⚠
- p.Val35Gly Single submitter ⚠
- p.Val378Ala Single submitter corticosterone methyloxidase type 1 deficiency ⚠
- p.Val473Glu Single submitter CYP11B2-related disorder ⚠
- c.240-8C>A No assertion criteria Corticosterone methyl oxidase type II deficiency
- c.395+6C>T No assertion criteria Corticosterone methyl oxidase type II deficiency
- c.800-4A>T No assertion criteria Corticosterone methyl oxidase type II deficiency
- c.955-7T>A No assertion criteria Corticosterone methyl oxidase type II deficiency
- c.*1T>C No assertion criteria Corticosterone methyl oxidase type II deficiency
- c.*7A>G No assertion criteria Corticosterone methyl oxidase type II deficiency
- p.Ala153Thr No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Ala226Val No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Ala23Ser No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Ala367= No assertion criteria Corticosterone methyl oxidase type II deficiency
- p.Ala415Gly No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Ala458Ser No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Arg166Gly No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Arg427Leu No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Asn281Thr No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Gln178Pro No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Glu198Gly No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Glu457Lys No assertion criteria Corticosterone methyl oxidase type II deficiency
- p.Gly379Ser No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Gly411Ser No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.His465Pro No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.His65Leu No assertion criteria Corticosterone methyl oxidase type II deficiency
- p.Ile502Thr No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Leu301Val No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Leu382Val No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Leu50Val No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Lys273Glu No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Met447Ile No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Pro151Leu No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Ser17Tyr No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Ser233Phe No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠
- p.Thr71Ser No assertion criteria Corticosterone methyl oxidase type II deficiency ⚠