CYP11B1 — 765 ClinVar variants
All ClinVar germline CYP11B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →
54 Pathogenic · 19 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 31 Conflicting · 38 Benign · 19 Benign/Likely benign · 342 Likely benign · 211 Uncertain significance
Full CYP11B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 196
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 10
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CYP11B1 p.Arg138Cys
Pathogenic/Likely pathogenic
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Arg143Trp
Pathogenic/Likely pathogenic
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Arg332Gln
Pathogenic/Likely pathogenic
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Arg384Gln
Pathogenic/Likely pathogenic
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Arg453Gln
Pathogenic
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Arg454His
Pathogenic/Likely pathogenic
Multiple submitters
congenital adrenal hyperplasia
-
CYP11B1 p.Pro94Leu
Pathogenic
Multiple submitters
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Arg138Gly Likely pathogenic Single submitter
-
CYP11B1 p.Met88Ile
Likely pathogenic
Single submitter
congenital adrenal hyperplasia
- CYP11B1 p.Val441Gly Pathogenic Single submitter
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CYP11B1 p.Arg141Gln
Conflicting
Single submitter
congenital adrenal hyperplasia
-
CYP11B1 p.Arg454Pro
Conflicting
Single submitter
congenital adrenal hyperplasia
-
CYP11B1 p.Asn335Asp
Conflicting
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Asp63His
Conflicting
Single submitter
congenital adrenal hyperplasia
-
CYP11B1 p.Asp82Asn
Conflicting
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Gly267Arg
Conflicting
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.His125Gln
Conflicting
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Trp116Gly
Conflicting
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Val35Ala
Conflicting
Single submitter
glucocorticoid-remediable aldosteronism
Predictors lean, ClinVar uncertain 86
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CYP11B1 p.Ala180Thr
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Ala367Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Ala415Asp
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Ala415Thr
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Arg341Ser
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Arg374Pro
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Arg422His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Arg422Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Arg427Ser
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Asn335Ser
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Glu310Asp
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Glu58Lys
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Gly87Arg
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Gly87Asp
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.His109Leu
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.His354Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CYP11B1 p.Ile481Met Uncertain significance Multiple submitters
-
CYP11B1 p.Leu36Arg
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Ser112Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Val129Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Val235Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Val441Met
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Val9Ala
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- CYP11B1 p.Ala203Thr Uncertain significance Single submitter
-
CYP11B1 p.Ala219Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Ala313Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Ala5Ser Uncertain significance Single submitter
- CYP11B1 p.Arg404Cys Uncertain significance Single submitter
-
CYP11B1 p.Arg404His
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Arg412Leu Uncertain significance Single submitter
- CYP11B1 p.Arg422Cys Uncertain significance Single submitter
-
CYP11B1 p.Arg432Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Arg44His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Asp187Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Asp261Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Cys262Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Gln155His Uncertain significance Single submitter
- CYP11B1 p.Gln19Lys Uncertain significance Single submitter
- CYP11B1 p.Gln285Arg Uncertain significance Single submitter
-
CYP11B1 p.Gln73Arg
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Glu147Asp
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Glu198Gln Uncertain significance Single submitter
-
CYP11B1 p.Glu298Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Glu298Gln
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Glu67Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Gly411Arg
Uncertain significance
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- CYP11B1 p.Gly411Ser Uncertain significance Single submitter
- CYP11B1 p.Gly452Arg Uncertain significance Single submitter
-
CYP11B1 p.His194Arg
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Ile263Val
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Ile289Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Leu142Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Leu36Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Leu36Val
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Leu375Pro
Uncertain significance
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Lys251Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Lys305Thr Uncertain significance Single submitter
- CYP11B1 p.Met111Lys Uncertain significance Single submitter
-
CYP11B1 p.Met240Val
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Met447Leu Uncertain significance Single submitter
-
CYP11B1 p.Met493Val
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Met92Leu
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Phe417Leu Uncertain significance Single submitter
- CYP11B1 p.Phe417Val Uncertain significance Single submitter
- CYP11B1 p.Phe443Ser Uncertain significance Single submitter
-
CYP11B1 p.Phe72Tyr
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Pro14Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Pro491Ser Uncertain significance Single submitter
-
CYP11B1 p.Ser105Arg
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Ser112Arg
Uncertain significance
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Ser233Thr
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Ser243Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Ser249Thr
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Ser315Arg
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Ser492Arg Uncertain significance Single submitter
-
CYP11B1 p.Trp15Arg
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Trp428Gly Uncertain significance Single submitter
- CYP11B1 p.Tyr423Cys Uncertain significance Single submitter
- CYP11B1 p.Tyr439His Uncertain significance Single submitter
-
CYP11B1 p.Tyr61His
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Val161Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Val290Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Val473Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Glu343Lys
Uncertain significance
No assertion criteria
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.His125Arg
Uncertain significance
No assertion criteria
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Leu149Pro
Uncertain significance
No assertion criteria
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Predictors split 91
The independent predictors disagree with each other — read with care.
-
CYP11B1 p.Ala153Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Ala86Pro
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Arg123Cys
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Arg143Leu Uncertain significance Multiple submitters
-
CYP11B1 p.Arg181Trp
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Arg208Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Arg412Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Arg427His
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Arg448His
Pathogenic/Likely pathogenic
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Asn133Lys
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- CYP11B1 p.Asp302Gly Uncertain significance Multiple submitters
-
CYP11B1 p.Asp480Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Cys10Tyr
Likely benign
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.His256Tyr
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Leu323Phe Uncertain significance Multiple submitters
-
CYP11B1 p.Leu402Ser
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Phe79Ile
Pathogenic/Likely pathogenic
Multiple submitters
Differences in sex development
-
CYP11B1 p.Pro355Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP11B1 p.Pro42Leu
Likely pathogenic
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Ser300Trp
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Thr185Ser
Benign/Likely benign
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Thr26Met
Uncertain significance
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Thr318Met
Pathogenic
Multiple submitters
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Val129Met
Uncertain significance
Multiple submitters
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- CYP11B1 p.Ala2Thr Uncertain significance Single submitter
- CYP11B1 p.Ala306Thr Likely pathogenic Single submitter
- CYP11B1 p.Ala347Thr Uncertain significance Single submitter
- CYP11B1 p.Ala399Gly Uncertain significance Single submitter
- CYP11B1 p.Arg123Gly Uncertain significance Single submitter
- CYP11B1 p.Arg143Gln Uncertain significance Single submitter
-
CYP11B1 p.Arg181Pro
Conflicting
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Arg246Cys
Conflicting
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Arg246Pro Uncertain significance Single submitter
- CYP11B1 p.Arg282Cys Uncertain significance Single submitter
-
CYP11B1 p.Arg282His
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Arg30Trp Uncertain significance Single submitter
- CYP11B1 p.Arg341Leu Uncertain significance Single submitter
-
CYP11B1 p.Arg366His
Uncertain significance
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Arg43Trp
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Arg453Trp Conflicting Single submitter
- CYP11B1 p.Arg454Cys Pathogenic Single submitter
-
CYP11B1 p.Asp268Asn
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Gln101Pro Uncertain significance Single submitter
-
CYP11B1 p.Gln276His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Glu361Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Glu383Gly Uncertain significance Single submitter
-
CYP11B1 p.Glu421Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Glu459Lys Uncertain significance Single submitter
-
CYP11B1 p.Gly124Glu
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.His465Tyr Uncertain significance Single submitter
-
CYP11B1 p.His466Leu
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.His69Arg
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.His69Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Leu113Arg Uncertain significance Single submitter
-
CYP11B1 p.Leu132Arg
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Leu204Val Uncertain significance Single submitter
-
CYP11B1 p.Leu211Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Leu295Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Leu299Gln Likely pathogenic Single submitter
- CYP11B1 p.Leu299Met Uncertain significance Single submitter
-
CYP11B1 p.Leu311Phe
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Leu375Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Leu375Val Uncertain significance Single submitter
-
CYP11B1 p.Leu64Pro
Uncertain significance
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- CYP11B1 p.Lys370Gln Uncertain significance Single submitter
-
CYP11B1 p.Lys99Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Met88Thr
Uncertain significance
Single submitter
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Phe38Ile
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Phe487Ser Uncertain significance Single submitter
-
CYP11B1 p.Pro108Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Pro151Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Pro159Leu
Conflicting
Single submitter
congenital adrenal hyperplasia
- CYP11B1 p.Pro159Ser Uncertain significance Single submitter
-
CYP11B1 p.Pro37Ser
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Pro414Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Pro42Ala Likely pathogenic Single submitter
- CYP11B1 p.Pro42Arg Likely pathogenic Single submitter
- CYP11B1 p.Pro42Thr Likely pathogenic Single submitter
- CYP11B1 p.Pro94Gln Likely pathogenic Single submitter
-
CYP11B1 p.Ser215Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP11B1 p.Ser217Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Thr326Met Uncertain significance Single submitter
-
CYP11B1 p.Thr401Ala
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Thr477Pro
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
- CYP11B1 p.Val378Met Uncertain significance Single submitter
-
CYP11B1 p.Val405Met
Uncertain significance
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Val484Asp
Conflicting
Single submitter
glucocorticoid-remediable aldosteronism
-
CYP11B1 p.Val89Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP11B1 p.Val97Met Uncertain significance Single submitter
-
CYP11B1 p.Ala386Glu
Uncertain significance
No assertion criteria
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
-
CYP11B1 p.Pro250Thr
Uncertain significance
No assertion criteria
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
All CYP11B1 variants
Pathogenic 54
- p.Arg141Ter Multiple submitters congenital adrenal hyperplasia
- p.Arg448Pro Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Arg453Gln Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Gln356Ter Multiple submitters congenital adrenal hyperplasia
- p.Gln73Ter Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu106fs Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu299Pro Multiple submitters glucocorticoid-remediable aldosteronism
- p.Pro442fs Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Pro94Leu Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Ser281fs Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Thr318Met Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Trp116Cys Multiple submitters congenital adrenal hyperplasia
- c.1200+1G>A Single submitter
- c.239+1G>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.954+148C>G Single submitter Differences in sex development
- c.954+1G>A Single submitter
- p.Arg332Gly Single submitter
- p.Arg384Gly Single submitter
- p.Arg432fs Single submitter
- p.Arg454Cys Single submitter ⚠
- p.Asn133fs Single submitter
- p.Asp480fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Cys450Ter Single submitter
- p.Cys90Ter Single submitter
- p.Gln101Ter Single submitter
- p.Gln121fs Single submitter Differences in sex development
- p.Gln285Ter Single submitter
- p.Gln342Ter Single submitter
- p.Gln426fs Single submitter
- p.Glu292Ter Single submitter
- p.Glu353Ter Single submitter
- p.Glu459fs Single submitter
- p.Glu67fs Single submitter congenital adrenal hyperplasia
- p.Gly128fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.His122fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu131fs Single submitter
- p.Leu204fs Single submitter
- p.Leu294fs Single submitter
- p.Leu410fs Single submitter
- p.Lys174Ter Single submitter
- p.Lys254_Ala259delinsGly Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Lys305Ter Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Phe406fs Single submitter
- p.Ser183fs Single submitter
- p.Trp116fs Single submitter
- p.Trp260Ter Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Trp49Ter Single submitter
- p.Tyr275Ter Single submitter
- p.Tyr286Ter Single submitter
- p.Val154fs Single submitter
- p.Val441Gly Single submitter ⚠
- p.Ala368Asp No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.His125fs No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Trp116Ter No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Pathogenic/Likely pathogenic 19
- c.596-2A>T Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Ala303fs Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Ala306Val Multiple submitters congenital adrenal hyperplasia
- p.Arg138Cys Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Arg143Trp Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Arg332Gln Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Arg384Gln Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Arg384Ter Multiple submitters glucocorticoid-remediable aldosteronism
- p.Arg448Cys Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Arg448His Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Arg454His Multiple submitters congenital adrenal hyperplasia ⚠
- p.Asn394fs Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Gln236Ter Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Gln449fs Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu489Ser Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Phe239fs Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Phe79Ile Multiple submitters Differences in sex development ⚠
- p.Pro42Ser Multiple submitters glucocorticoid-remediable aldosteronism
- p.Ser150Ter Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Likely pathogenic 51
- c.396-2A>G Multiple submitters congenital adrenal hyperplasia
- p.Gln272Ter Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu382Arg Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Pro42Leu Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- c.1121+1G>A Single submitter glucocorticoid-remediable aldosteronism
- c.240-2A>G Single submitter
- c.395+1G>A Single submitter glucocorticoid-remediable aldosteronism
- c.395+1G>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.800-1G>C Single submitter
- c.800-2A>G Single submitter
- c.955-3C>A Single submitter glucocorticoid-remediable aldosteronism
- p.Ala118_Tyr119insTer Single submitter glucocorticoid-remediable aldosteronism
- p.Ala306Thr Single submitter ⚠
- p.Arg120fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Arg138Gly Single submitter ⚠
- p.Arg332Pro Single submitter
- p.Arg33fs Single submitter
- p.Arg384Leu Single submitter
- p.Arg384Pro Single submitter
- p.Arg454Ser Single submitter
- p.Asn222fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Asp317fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Cys10Ter Single submitter glucocorticoid-remediable aldosteronism
- p.Cys450Tyr Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Gln265fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Gln284Ter Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Glu361fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Gly444Cys Single submitter
- p.Ile271fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Ile78fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu142Ter Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu18fs Single submitter
- p.Leu299Gln Single submitter ⚠
- p.Leu464_His465insLeu Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Lys232fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Met88Ile Single submitter congenital adrenal hyperplasia ⚠
- p.Phe328fs Single submitter glucocorticoid-remediable aldosteronism
- p.Pro42Ala Single submitter ⚠
- p.Pro42Arg Single submitter ⚠
- p.Pro42Thr Single submitter ⚠
- p.Pro77fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Pro94Gln Single submitter ⚠
- p.Thr318= Single submitter glucocorticoid-remediable aldosteronism
- p.Trp137Ter Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Tyr376fs Single submitter
- c.1398+2T>C No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.955-1G>A No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Arg404del No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Gln102Ter No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Trp49fs No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Trp56Ter No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Conflicting classifications of pathogenicity 31
- c.1122-20A>G Single submitter congenital adrenal hyperplasia
- c.1200+11C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.240-18_240-17delinsAA Single submitter
- c.395+6C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.395+9C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.595+1G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.595+8C>A Single submitter
- c.954+9G>C Single submitter glucocorticoid-remediable aldosteronism
- c.*848C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Arg141Gln Single submitter congenital adrenal hyperplasia ⚠
- p.Arg181Pro Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Arg246Cys Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Arg453Trp Single submitter ⚠
- p.Arg454Pro Single submitter congenital adrenal hyperplasia ⚠
- p.Asn335Asp Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Asp63His Single submitter congenital adrenal hyperplasia ⚠
- p.Asp82Asn Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Gly267Arg Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Gly46= Single submitter
- p.His125Gln Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Leu202= Single submitter glucocorticoid-remediable aldosteronism
- p.Leu364= Single submitter glucocorticoid-remediable aldosteronism
- p.Leu382= Single submitter congenital adrenal hyperplasia
- p.Leu496= Single submitter glucocorticoid-remediable aldosteronism
- p.Pro159Leu Single submitter congenital adrenal hyperplasia ⚠
- p.Ser150= Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Trp116Gly Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Tyr275= Single submitter glucocorticoid-remediable aldosteronism
- p.Tyr81= Single submitter congenital adrenal hyperplasia
- p.Val35Ala Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Val484Asp Single submitter glucocorticoid-remediable aldosteronism ⚠
Benign 38
- c.1121+163T>C Multiple submitters
- c.1121+49G>A Multiple submitters
- c.1122-126C>T Multiple submitters
- c.1122-197A>G Multiple submitters
- c.1122-48A>G Multiple submitters
- c.1122-75C>G Multiple submitters
- c.1122-80T>G Multiple submitters
- c.239+13C>A Multiple submitters glucocorticoid-remediable aldosteronism
- c.239+20T>A Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.240-23C>T Multiple submitters
- c.396-42C>T Multiple submitters
- c.596-41C>T Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.800-45C>T Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.800-75T>G Multiple submitters
- c.955-111T>G Multiple submitters
- c.955-62G>T Multiple submitters
- c.*1020C>T Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1042A>G Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1288A>G Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*132T>C Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1417G>A Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1499C>T Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1566G>T Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1852T>G Multiple submitters glucocorticoid-remediable aldosteronism
- c.*318A>G Multiple submitters glucocorticoid-remediable aldosteronism
- c.*471A>C Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*516A>G Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*694T>C Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*738G>A Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*923G>C Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Ala291= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Asp82= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Leu75= Multiple submitters glucocorticoid-remediable aldosteronism
- c.1398+126C>G Single submitter
- c.596-5del Single submitter
- c.799+119T>G Single submitter
- c.799+140C>T Single submitter
- p.Ala386= Single submitter
Benign/Likely benign 19
- c.799+17G>A Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*193A>T Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Arg366= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Arg374= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Arg43Gln Multiple submitters glucocorticoid-remediable aldosteronism
- p.Leu330= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu451= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Ser315= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Thr185= Multiple submitters
- p.Thr185Ser Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Thr248Ile Multiple submitters glucocorticoid-remediable aldosteronism
- c.*1076C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1258G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1512G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1871T>A Single submitter glucocorticoid-remediable aldosteronism
- c.*193A>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*468C>T Single submitter glucocorticoid-remediable aldosteronism
- c.*634G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*718T>G Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Likely benign 342
Showing the top 300 by review status; the full set is in the sitemap.
- c.1122-12C>T Multiple submitters
- c.1399-23T>G Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.1399-7G>C Multiple submitters
- c.239+8C>T Multiple submitters
- c.240-7C>T Multiple submitters
- c.396-9C>T Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.596-8C>T Multiple submitters glucocorticoid-remediable aldosteronism
- p.Ala279= Multiple submitters
- p.Ala346= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Arg123= Multiple submitters
- p.Asn145= Multiple submitters Inborn genetic diseases
- p.Asn152Lys Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Asn179= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Asp187= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Asp480= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Cys10Tyr Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Cys90= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Glu310= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Glu62= Multiple submitters
- p.Glu74= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Glu98= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu209= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu463= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu53= Multiple submitters glucocorticoid-remediable aldosteronism
- p.Ser409= Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.1121+11G>A Single submitter
- c.1121+16G>A Single submitter
- c.1121+20T>C Single submitter
- c.1121+7G>C Single submitter
- c.1121+8C>T Single submitter
- c.1122-10C>T Single submitter
- c.1122-11C>T Single submitter
- c.1122-13C>T Single submitter
- c.1122-19T>C Single submitter
- c.1122-7C>T Single submitter
- c.1200+15C>T Single submitter
- c.1200+17C>A Single submitter
- c.1200+17C>T Single submitter
- c.1200+19C>T Single submitter
- c.1200+8A>T Single submitter
- c.1201-10C>A Single submitter
- c.1201-10C>T Single submitter
- c.1201-11A>C Single submitter
- c.1201-15C>A Single submitter
- c.1201-17C>G Single submitter
- c.1201-18G>A Single submitter
- c.1201-19C>G Single submitter
- c.1201-19C>T Single submitter
- c.1201-4G>A Single submitter
- c.1201-5C>T Single submitter
- c.1201-6C>T Single submitter
- c.1201-8G>A Single submitter
- c.1201-8G>C Single submitter
- c.1201-9C>G Single submitter
- c.1398+12C>A Single submitter
- c.1398+12C>G Single submitter
- c.1398+12dup Single submitter
- c.1398+17T>A Single submitter
- c.1398+18G>C Single submitter
- c.1398+7_1398+13del Single submitter
- c.1398+7A>C Single submitter
- c.1398+8G>A Single submitter
- c.1398+8G>C Single submitter
- c.1398+9G>A Single submitter
- c.1399-12C>A Single submitter
- c.1399-15C>T Single submitter
- c.1399-16C>G Single submitter
- c.1399-5C>T Single submitter
- c.239+100G>A Single submitter
- c.239+12C>A Single submitter
- c.239+14T>C Single submitter
- c.239+167C>G Single submitter
- c.239+17_239+26del Single submitter
- c.239+7C>T Single submitter
- c.240-10G>C Single submitter
- c.240-13C>G Single submitter
- c.240-13C>T Single submitter
- c.240-14G>T Single submitter
- c.240-16G>A Single submitter
- c.240-16G>C Single submitter
- c.240-17C>T Single submitter
- c.240-18T>C Single submitter
- c.240-19C>T Single submitter
- c.240-20C>T Single submitter
- c.240-4A>T Single submitter
- c.240-5del Single submitter
- c.240-8C>T Single submitter
- c.395+10G>C Single submitter
- c.395+12_395+13insGAGTTGG Single submitter
- c.395+18A>C Single submitter
- c.395+7G>A Single submitter
- c.395+7G>C Single submitter
- c.395+8G>T Single submitter
- c.395+9C>G Single submitter
- c.396-10G>C Single submitter
- c.396-10G>T Single submitter
- c.396-13C>T Single submitter
- c.396-16G>A Single submitter
- c.396-6C>T Single submitter
- c.396-8C>A Single submitter
- c.595+11C>T Single submitter
- c.595+13T>C Single submitter
- c.595+15G>C Single submitter
- c.595+19dup Single submitter
- c.595+19G>T Single submitter
- c.595+20A>G Single submitter
- c.595+7G>A Single submitter
- c.595+9C>T Single submitter
- c.596-10C>T Single submitter
- c.596-11C>T Single submitter
- c.596-13A>G Single submitter
- c.596-16T>C Single submitter
- c.596-20G>C Single submitter
- c.596-4G>A Single submitter
- c.596-5C>T Single submitter
- c.596-7C>T Single submitter
- c.799+10G>A Single submitter
- c.799+11G>A Single submitter
- c.799+16C>A Single submitter
- c.799+16C>G Single submitter
- c.799+16C>T Single submitter
- c.799+18G>C Single submitter
- c.799+20C>A Single submitter
- c.799+20C>T Single submitter
- c.799+9A>G Single submitter
- c.799+9del Single submitter
- c.800-10C>A Single submitter
- c.800-10C>T Single submitter
- c.800-12C>T Single submitter
- c.800-13G>A Single submitter
- c.800-16C>G Single submitter
- c.800-17T>C Single submitter
- c.800-19C>T Single submitter
- c.800-6G>T Single submitter
- c.800-7C>G Single submitter
- c.800-7C>T Single submitter
- c.954+11C>G Single submitter
- c.954+12A>C Single submitter
- c.954+14C>A Single submitter
- c.954+14C>T Single submitter
- c.954+18C>T Single submitter
- c.954+20C>T Single submitter
- c.954+8C>A Single submitter
- c.954+8C>G Single submitter
- c.954+8C>T Single submitter
- c.955-11G>C Single submitter
- c.955-13GT[4] Single submitter
- c.955-14T>C Single submitter
- c.955-15C>A Single submitter
- c.955-7C>T Single submitter
- c.955-9C>G Single submitter
- c.-10G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Ala163= Single submitter
- p.Ala203= Single submitter
- p.Ala21= Single submitter
- p.Ala226= Single submitter
- p.Ala259= Single submitter
- p.Ala28= Single submitter
- p.Ala297= Single submitter
- p.Ala339= Single submitter
- p.Ala347= Single submitter
- p.Ala349= Single submitter
- p.Ala358= Single submitter
- p.Ala368= Single submitter
- p.Ala415= Single submitter
- p.Ala456= Single submitter
- p.Ala501= Single submitter
- p.Ala7= Single submitter
- p.Ala86= Single submitter
- p.Arg110= Single submitter
- p.Arg138= Single submitter
- p.Arg143= Single submitter
- p.Arg208= Single submitter
- p.Arg242= Single submitter
- p.Arg282= Single submitter
- p.Arg30= Single submitter
- p.Arg33= Single submitter
- p.Arg384= Single submitter
- p.Arg404= Single submitter
- p.Arg412= Single submitter
- p.Arg419= Single submitter
- p.Arg422= Single submitter
- p.Arg432= Single submitter
- p.Arg436= Single submitter
- p.Arg44= Single submitter
- p.Arg448= Single submitter
- p.Arg453= Single submitter
- p.Arg454= Single submitter
- p.Arg500= Single submitter
- p.Asn152= Single submitter
- p.Asn201= Single submitter
- p.Asn269= Single submitter
- p.Asn307= Single submitter
- p.Asn335= Single submitter
- p.Asn413= Single submitter
- p.Asn424= Single submitter
- p.Asn503= Single submitter
- p.Asp167= Single submitter
- p.Asp82_Leu83= Single submitter
- p.Asp96= Single submitter
- p.Cys270= Single submitter
- p.Gln19= Single submitter
- p.Gln472= Single submitter
- p.Glu147= Single submitter
- p.Glu228= Single submitter
- p.Glu255= Single submitter
- p.Glu258= Single submitter
- p.Glu343= Single submitter
- p.Glu371= Single submitter
- p.Glu383= Single submitter
- p.Glu421= Single submitter
- p.Glu474= Single submitter
- p.Glu67= Single submitter
- p.Glu8= Single submitter
- p.Glu95= Single submitter
- p.Gly182= Single submitter
- p.Gly25= Single submitter
- p.Gly25Ser Single submitter
- p.Gly267= Single submitter
- p.Gly314= Single submitter
- p.Gly452= Single submitter
- p.Gly76= Single submitter
- p.His225= Single submitter
- p.His256= Single submitter
- p.His465= Single submitter
- p.Ile192= Single submitter
- p.Ile263= Single submitter
- p.Ile274= Single submitter
- p.Ile289= Single submitter
- p.Ile351= Single submitter
- p.Ile397= Single submitter
- p.Ile431= Single submitter
- p.Ile55= Single submitter
- p.Leu100= Single submitter
- p.Leu106= Single submitter
- p.Leu113= Single submitter
- p.Leu131= Single submitter
- p.Leu142= Single submitter
- p.Leu144= Single submitter
- p.Leu149= Single submitter
- p.Leu16= Single submitter
- p.Leu177= Single submitter
- p.Leu18= Single submitter
- p.Leu186= Single submitter
- p.Leu204= Single submitter
- p.Leu211= Single submitter
- p.Leu221= Single submitter
- p.Leu224= Single submitter
- p.Leu227= Single submitter
- p.Leu24= Single submitter
- p.Leu244= Single submitter
- p.Leu294= Single submitter
- p.Leu295= Single submitter
- p.Leu299= Single submitter
- p.Leu3= Single submitter
- p.Leu324= Single submitter
- p.Leu340= Single submitter
- p.Leu36= Single submitter
- p.Leu362= Single submitter
- p.Leu369= Single submitter
- p.Leu390= Single submitter
- p.Leu402= Single submitter
- p.Leu416= Single submitter
- p.Leu468= Single submitter
- p.Leu497= Single submitter
- p.Leu50= Single submitter
- p.Leu64= Single submitter
- p.Leu83= Single submitter
- p.Lys173= Single submitter
- p.Lys174= Single submitter
- p.Lys370= Single submitter
- p.Lys6= Single submitter
- p.Lys99= Single submitter
- p.Phe168= Single submitter
- p.Phe205= Single submitter
- p.Phe328= Single submitter
- p.Phe38= Single submitter
- p.Phe406= Single submitter
- p.Phe438= Single submitter
- p.Phe443= Single submitter
- p.Pro115= Single submitter
- p.Pro135= Single submitter
- p.Pro14= Single submitter
- p.Pro146= Single submitter
- p.Pro151= Single submitter
- p.Pro159= Single submitter
- p.Pro216= Single submitter
- p.Pro322= Single submitter
- p.Pro334= Single submitter
- p.Pro355= Single submitter
- p.Pro363= Single submitter
- p.Pro37= Single submitter
- p.Pro414= Single submitter
- p.Pro418= Single submitter
- p.Pro94= Single submitter
- p.Ser169= Single submitter
- p.Ser191= Single submitter
- p.Ser218= Single submitter
- p.Ser220= Single submitter
- p.Ser233= Single submitter
Uncertain significance 211
- p.Ala153Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala180Thr Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Ala339Ile Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Ala367Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala415Asp Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Ala415Thr Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Ala86Pro Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Arg123Cys Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Arg143Leu Multiple submitters ⚠
- p.Arg181Trp Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Arg208Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg341Ser Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Arg374Pro Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Arg412Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg422His Multiple submitters Inborn genetic diseases ⚠
- p.Arg422Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg427His Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Arg427Ser Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Asn133Lys Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Asn335Ser Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Asp302Gly Multiple submitters ⚠
- p.Asp480Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu310Asp Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Glu58Lys Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Gly87Arg Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Gly87Asp Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.His109Leu Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.His256Tyr Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.His354Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile481Met Multiple submitters ⚠
- p.Leu323Phe Multiple submitters ⚠
- p.Leu36Arg Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Leu402Ser Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Pro355Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser112Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser300Trp Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Thr26Met Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Val129Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val129Met Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Val235Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val441Met Multiple submitters glucocorticoid-remediable aldosteronism ⚠
- p.Val9Ala Multiple submitters congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- c.239+156C>T Single submitter
- c.239+20_239+21delinsAA Single submitter
- c.395+3A>G Single submitter
- c.396-3T>C Single submitter
- c.954+6G>C Single submitter
- c.*1012A>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1164G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1209C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1253G>T Single submitter glucocorticoid-remediable aldosteronism
- c.*1264A>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1296A>G Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1313C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1358T>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1435T>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1476G>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1511C>T Single submitter glucocorticoid-remediable aldosteronism
- c.*1550C>T Single submitter glucocorticoid-remediable aldosteronism
- c.*1590G>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1622C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1623G>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1770A>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1929A>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1944G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*1979G>A Single submitter glucocorticoid-remediable aldosteronism
- c.*244C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*245C>G Single submitter glucocorticoid-remediable aldosteronism
- c.*317T>C Single submitter glucocorticoid-remediable aldosteronism
- c.*345C>A Single submitter glucocorticoid-remediable aldosteronism
- c.*390A>G Single submitter glucocorticoid-remediable aldosteronism
- c.*400C>T Single submitter glucocorticoid-remediable aldosteronism
- c.*485C>G Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*495C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*516A>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*596C>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*607C>T Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*613A>G Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*614C>T Single submitter glucocorticoid-remediable aldosteronism
- c.*670A>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*857T>C Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*901G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- c.*946G>A Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Ala203Thr Single submitter ⚠
- p.Ala219Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala313Glu Single submitter Inborn genetic diseases ⚠
- p.Ala347Thr Single submitter ⚠
- p.Ala399Gly Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Arg123Gly Single submitter ⚠
- p.Arg143Gln Single submitter ⚠
- p.Arg246Pro Single submitter ⚠
- p.Arg282Cys Single submitter ⚠
- p.Arg282His Single submitter Inborn genetic diseases ⚠
- p.Arg30Trp Single submitter ⚠
- p.Arg341Leu Single submitter ⚠
- p.Arg366His Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Arg404Cys Single submitter ⚠
- p.Arg404Gln Single submitter glucocorticoid-remediable aldosteronism
- p.Arg404His Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Arg412Leu Single submitter ⚠
- p.Arg422Cys Single submitter ⚠
- p.Arg432Thr Single submitter Inborn genetic diseases ⚠
- p.Arg43Trp Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Arg44His Single submitter Inborn genetic diseases ⚠
- p.Asp187Asn Single submitter Inborn genetic diseases ⚠
- p.Asp261Glu Single submitter Inborn genetic diseases ⚠
- p.Asp268= Single submitter
- p.Asp268Asn Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Cys262Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln101Pro Single submitter ⚠
- p.Gln155His Single submitter ⚠
- p.Gln19Lys Single submitter ⚠
- p.Gln276His Single submitter Inborn genetic diseases ⚠
- p.Gln285Arg Single submitter ⚠
- p.Gln73Arg Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Glu147Asp Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Glu198= Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Glu198Gln Single submitter ⚠
- p.Glu198Gly Single submitter
- p.Glu298Ala Single submitter Inborn genetic diseases ⚠
- p.Glu298Gln Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Glu361Lys Single submitter Inborn genetic diseases ⚠
- p.Glu383Gly Single submitter ⚠
- p.Glu421Lys Single submitter Inborn genetic diseases ⚠
- p.Glu459Lys Single submitter ⚠
- p.Glu67Lys Single submitter Inborn genetic diseases ⚠
- p.Gly124Glu Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Gly128= Single submitter glucocorticoid-remediable aldosteronism
- p.Gly411Arg Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Gly411Ser Single submitter ⚠
- p.Gly452Arg Single submitter ⚠
- p.His194Arg Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.His465Tyr Single submitter ⚠
- p.His466Leu Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.His69Arg Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.His69Gln Single submitter Inborn genetic diseases ⚠
- p.Ile263Val Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Ile289Met Single submitter Inborn genetic diseases ⚠
- p.Leu113Arg Single submitter ⚠
- p.Leu132Arg Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Leu142Ser Single submitter Inborn genetic diseases ⚠
- p.Leu204Val Single submitter ⚠
- p.Leu211Gln Single submitter Inborn genetic diseases ⚠
- p.Leu295Phe Single submitter Inborn genetic diseases ⚠
- p.Leu299Met Single submitter ⚠
- p.Leu311Phe Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Leu36Gln Single submitter Inborn genetic diseases ⚠
- p.Leu36Val Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Leu375Ile Single submitter Inborn genetic diseases ⚠
- p.Leu375Pro Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Leu375Val Single submitter ⚠
- p.Leu462fs Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Leu64Pro Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Lys251Thr Single submitter Inborn genetic diseases ⚠
- p.Lys305Thr Single submitter ⚠
- p.Lys370Gln Single submitter ⚠
- p.Lys99Gln Single submitter Inborn genetic diseases ⚠
- p.Met111Lys Single submitter ⚠
- p.Met240Val Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Met447Leu Single submitter ⚠
- p.Met493Val Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Met88Thr Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Met92Leu Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Phe38Ile Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Phe417Leu Single submitter ⚠
- p.Phe417Val Single submitter ⚠
- p.Phe443Ser Single submitter ⚠
- p.Phe487Ser Single submitter ⚠
- p.Phe72Tyr Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Pro108Thr Single submitter Inborn genetic diseases ⚠
- p.Pro14Ser Single submitter Inborn genetic diseases ⚠
- p.Pro151Leu Single submitter Inborn genetic diseases ⚠
- p.Pro159Ser Single submitter ⚠
- p.Pro37Ser Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Pro414Ala Single submitter Inborn genetic diseases ⚠
- p.Pro491Ser Single submitter ⚠
- p.Ser105Arg Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Ser112Arg Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Ser215Gly Single submitter Inborn genetic diseases ⚠
- p.Ser217Asn Single submitter Inborn genetic diseases ⚠
- p.Ser233Thr Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Ser243Arg Single submitter Inborn genetic diseases ⚠
- p.Ser249Thr Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Ser315Arg Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Ser492Arg Single submitter ⚠
- p.Thr319= Single submitter congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Thr326Met Single submitter ⚠
- p.Thr401Ala Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Thr477Pro Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Trp15Arg Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Trp428Gly Single submitter ⚠
- p.Tyr119= Single submitter
- p.Tyr266= Single submitter
- p.Tyr423Cys Single submitter ⚠
- p.Tyr439His Single submitter ⚠
- p.Tyr61His Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Val161Leu Single submitter Inborn genetic diseases ⚠
- p.Val290Met Single submitter Inborn genetic diseases ⚠
- p.Val378Met Single submitter ⚠
- p.Val405Met Single submitter glucocorticoid-remediable aldosteronism ⚠
- p.Val473Leu Single submitter Inborn genetic diseases ⚠
- p.Val89Ala Single submitter Inborn genetic diseases ⚠
- p.Val97Met Single submitter ⚠
- p.Ala386Glu No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Glu343Lys No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.His125Arg No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Leu149Pro No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠
- p.Leu211_Gly213del No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- p.Pro250Thr No assertion criteria congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ⚠