Sugi Variant

Sugi Variant/CYP11A1

CYP11A1 — 434 ClinVar variants

All ClinVar germline CYP11A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

27 Pathogenic · 4 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 13 Conflicting · 15 Benign · 8 Benign/Likely benign · 219 Likely benign · 127 Uncertain significance

Full CYP11A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 89

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 29

The independent predictors disagree with each other — read with care.

All CYP11A1 variants

Pathogenic 27

  • c.425+1G>A Multiple submitters
  • p.Arg120Ter Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Arg232Ter Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  • p.Arg424Ter Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Ile279fs Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Leu170fs Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Arg439Ter Single submitter
  • p.Arg465Trp Single submitter
  • p.Asn249fs Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Asp172fs Single submitter
  • p.Asp197fs Single submitter
  • p.Gln290Ter Single submitter
  • p.Glu208Ter Single submitter
  • p.Glu25Ter Single submitter
  • p.Gly326Ter Single submitter
  • p.Ile102fs Single submitter
  • p.Leu376fs Single submitter
  • p.Trp147Ter Single submitter
  • p.Trp263Ter Single submitter
  • p.Trp270Ter Single submitter
  • p.Trp286Ter Single submitter
  • p.Trp59fs Single submitter
  • p.Val11fs Single submitter
  • p.Asp271_Val272insGlyAsp No assertion criteria Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Leu141Trp No assertion criteria Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Leu222Pro No assertion criteria Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Val415Glu No assertion criteria Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Pathogenic/Likely pathogenic 4

  • p.Ala189Val Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg120fs Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Arg451Trp Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Glu68fs Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Likely pathogenic 21

  • c.625+2dup Multiple submitters congenital adrenal hyperplasia
  • c.830-1G>C Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Ala269Val Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Arg460Trp Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • c.270-1G>C Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • c.623_625+6del Single submitter
  • p.Ala269fs Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Ala359Val Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Arg289fs Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Arg353Trp Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Arg360Trp Single submitter Congenital Adrenal Insufficiency ⚠
  • p.Arg460Gln Single submitter
  • p.Asn400fs Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Cys462Arg Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  • p.Gln131Ter Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Gln17Ter Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Gln282fs Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Gly28fs Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Gly365fs Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Met323Lys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Phe215Ser Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Conflicting classifications of pathogenicity 13

  • c.269+4A>G Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • c.625+15A>G Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Arg31= Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Gln131= Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Glu314Lys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Gly138Arg Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.His388= Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Ile40Thr Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Leu305= Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Pro389= Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Pro87= Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Val399Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Val79Ile Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠

Benign 15

Benign/Likely benign 8

  • c.1158-5C>T Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • c.1237-16G>C Multiple submitters
  • c.830-14C>G Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Ala146= Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Gln364Arg Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Leu122= Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Phe313= Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Val179Ile Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Likely benign 219

Uncertain significance 127

  • c.829+3G>C Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Ala160Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala173Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala468Thr Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg204Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg204His Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg29His Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg353Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg424Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg9His Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Glu229Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu504Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu50Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu50Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gly94Ser Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Leu6Arg Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Met367Leu Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Pro124Leu Multiple submitters Differences in sex development ⚠
  • p.Pro228Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro432Leu Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Pro432Ser Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Thr448Asn Multiple submitters Differences in sex development ⚠
  • p.Val294Ile Multiple submitters Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • c.425+4A>T Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • c.-35A>G Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • c.-59A>G Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Ala22Val Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Ala236Asp Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia ⚠
  • p.Ala354Val Single submitter Inborn genetic diseases ⚠
  • p.Ala358Val Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Ala518Glu Single submitter Inborn genetic diseases ⚠
  • p.Arg120Gln Single submitter ⚠
  • p.Arg151Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg151Trp Single submitter ⚠
  • p.Arg176Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg184Lys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg185Cys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg218His Single submitter ⚠
  • p.Arg218Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg256His Single submitter Inborn genetic diseases ⚠
  • p.Arg299Cys Single submitter ⚠
  • p.Arg29Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg344Cys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg344His Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg344Ser Single submitter
  • p.Arg353Gly Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg43His Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg46Cys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Arg46His Single submitter Inborn genetic diseases ⚠
  • p.Arg9Cys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asn166Ser Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asn227Lys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asn49Ile Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asp150Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp197His Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Asp253His Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asp297Asn Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asp401Asn Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asp406His Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asp492Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp492Asn Single submitter Inborn genetic diseases ⚠
  • p.Gln290Pro Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Gln395Lys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Gln516Arg Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Gln521Ter Single submitter
  • p.Gln83Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu36Lys Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Glu425Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu68Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu97Asp Single submitter ⚠
  • p.Gly15Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly15Asp Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Gly365Glu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Gly58Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly70Asp Single submitter Inborn genetic diseases ⚠
  • p.His489Tyr Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Ile474Val Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Ile507Val Single submitter Inborn genetic diseases ⚠
  • p.Leu154Pro Single submitter ⚠
  • p.Leu248Ile Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Leu250Phe Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Leu305Phe Single submitter ⚠
  • p.Leu306Val Single submitter ⚠
  • p.Leu30Val Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Leu76Pro Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Lys14Asn Single submitter ⚠
  • p.Lys187Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys382Arg Single submitter ⚠
  • p.Lys443Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys84Asn Single submitter Inborn genetic diseases ⚠
  • p.Met333Ile Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Met342_Arg344delinsIleAlaSer Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Met342Ile Single submitter Inborn genetic diseases ⚠
  • p.Met472Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Phe19Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Phe19Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe241Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Phe284del Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • p.Phe313Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Phe82Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Pro104Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Pro116Leu Single submitter ⚠
  • p.Pro124Thr Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Pro246Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro426Ser Single submitter ⚠
  • p.Pro87Arg Single submitter ⚠
  • p.Pro87Leu Single submitter ⚠
  • p.Pro8Leu Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Ser195Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser21Ile Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Ser312Tyr Single submitter ⚠
  • p.Ser508Phe Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Ser53Phe Single submitter Inborn genetic diseases ⚠
  • p.Ter522Arg Single submitter
  • p.Thr211Ile Single submitter ⚠
  • p.Thr262Ser Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Thr34Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr369Met Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Thr496Ile Single submitter ⚠
  • p.Thr510Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr69Met Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Trp66Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr194His Single submitter Inborn genetic diseases ⚠
  • p.Val267Met Single submitter Inborn genetic diseases ⚠
  • p.Val415Gly Single submitter Inborn genetic diseases ⚠
  • p.Val99Ala Single submitter Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency ⚠
  • p.Asp103Glu No assertion criteria CYP11A1-related disorder ⚠