CYP21A2 — 343 ClinVar variants
All ClinVar germline CYP21A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
58 Pathogenic · 16 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 29 Conflicting · 42 Benign · 3 Benign/Likely benign · 29 Likely benign · 123 Uncertain significance
Full CYP21A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CYP21A2 variants
Pathogenic 58
- c.1118+2T>C Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg357Trp Multiple submitters CYP21A2-related disorder
- p.Arg409Cys Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg427His Multiple submitters CYP21A2-related disorder
- p.Arg484Gln Multiple submitters congenital adrenal hyperplasia
- p.Arg484Trp Multiple submitters
- p.Gln319Ter Multiple submitters Fetal anomalies with a likely genetic cause
- p.Gln42Ter Multiple submitters
- p.Gly111fs Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.His366Tyr Multiple submitters congenital adrenal hyperplasia
- p.Ile173Asn Multiple submitters Inborn genetic diseases
- p.Ile237_Met240delinsAsnGluGluLys Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu309fs Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro454Ser Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser126Ter Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.(?_1 Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.292+5G>A Single submitter
- p.Arg317Ter Single submitter
- p.Arg340His Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg342Pro Single submitter
- p.Arg445Ter Single submitter
- p.Gln145fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Gln319Glu Single submitter
- p.Glu162Ter Single submitter
- p.His29fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.His39Leu Single submitter
- p.His403fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ile172Asn Single submitter
- p.Ile237_Met240delinsLysGluGluLys Single submitter
- p.Leu227fs Single submitter
- p.Leu308fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Met1Val Single submitter
- p.Pro31Gln Single submitter
- p.Ser302Tyr Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Trp20Ter Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Trp406Ter Single submitter
- p.Tyr337Ter Single submitter
- c.293-2A>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.651+2T>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.939+1G>C No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*28697405C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*28697972C>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*28698024_*28698031del8 No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*28698317T>A No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*28699001G>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*28699312C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*28699426C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg409Leu No assertion criteria CYP21A2-related disorder
- p.Cys170Tyr No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Cys424Ter No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu279fs No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu320Ter No assertion criteria CYP21A2-related disorder
- p.Gly179Arg No assertion criteria CYP21A2-related disorder
- p.Gly376Ser No assertion criteria Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
- p.Gly431Ser No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro491fs No assertion criteria CYP21A2-related disorder
- p.Ser171fs No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Tyr175Ter No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Pathogenic/Likely pathogenic 16
- c.292+1G>A Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.-113G>A Multiple submitters congenital adrenal hyperplasia
- p.Arg342Trp Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg484fs Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg484Pro Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg92Gly Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Gln482Ter Multiple submitters
- p.Gly292Ser Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Gly425Ser Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ile237Asn Multiple submitters congenital adrenal hyperplasia
- p.Leu356= Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro31Leu Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro483Ser Multiple submitters Inborn genetic diseases
- p.Ser373Asn Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Trp23Ter Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Val282Leu Multiple submitters Inborn genetic diseases
Likely pathogenic 43
- c.-126C>T Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser114Phe Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.1118+1G>A Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.652-1G>A Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.738+2T>C Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.-110T>C Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.(?_-50 Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ala348Thr Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ala363Val Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg133Cys Single submitter
- p.Arg355Cys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Gln54fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu432Lys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Gly292Arg Single submitter
- p.Gly425Val Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.His283Asn Single submitter
- p.Ile237fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ile379Asn Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ile59fs Single submitter
- p.Leu309Phe Single submitter congenital adrenal hyperplasia
- p.Leu38fs Single submitter
- p.Leu434Pro Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Met136fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Met258fs Single submitter
- p.Pro31Ser Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro387Leu Single submitter CYP21A2-related disorder
- p.Pro433Leu Single submitter congenital adrenal hyperplasia
- p.Ser166Cys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser461_Pro466del Single submitter
- p.Thr201fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Trp205Ter Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Tyr377Ter Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Val101_Ser102insTer Single submitter
- p.Val140Met Single submitter
- c.*28699080dupT No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu321del No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Gly252Ser No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu187Val No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu8fs No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Lys85fs No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Met261Arg No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Met261Thr No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser114Tyr No assertion criteria CYP21A2-related disorder
Conflicting classifications of pathogenicity 29
- c.293-13C>G Single submitter Fetal anomalies with a likely genetic cause
- c.293-7C>G Single submitter congenital adrenal hyperplasia
- c.*12C>T Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*13G>A Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ala266Val Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ala392Thr Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg125Cys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg150Cys Single submitter Inborn genetic diseases
- p.Arg357Gln Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg357Pro Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg367Cys Single submitter congenital adrenal hyperplasia
- p.Arg367His Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg409His Single submitter CYP21A2-related disorder
- p.Arg436Cys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg480Leu Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu141Lys Single submitter
- p.His393Gln Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.His63Leu Single submitter congenital adrenal hyperplasia
- p.Leu199Phe Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu308Val Single submitter
- p.Leu318= Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu453= Single submitter Inborn genetic diseases
- p.Met240Lys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Phe307Val Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser109= Single submitter
- p.Ser114= Single submitter congenital adrenal hyperplasia
- p.Tyr48Cys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Val238Glu Single submitter congenital adrenal hyperplasia
- p.Val305Met Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Benign 42
- c.292+9C>T Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.550-15C>A Multiple submitters
- c.550-8T>C Multiple submitters
- c.-4C>T Multiple submitters
- p.Arg103Lys Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu10del Multiple submitters
- p.Leu249= Multiple submitters
- p.Leu40= Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro46= Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro491= Multiple submitters
- p.Ser269Thr Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser375= Multiple submitters
- p.Ser494Asn Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.292+67C>T Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.738+12A>G Single submitter
- c.738+13C>T Single submitter
- c.-199C>T Single submitter
- p.Asp235= Single submitter
- c.203-18G>C No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.292+109C>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-115C>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-130C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-88G>A No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-89A>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-91G>A No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-94T>A No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-95G>C No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-96G>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.447+38C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.448-3C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.448-50G>A No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.550-19C>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.651+30G>A No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.651+35A>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.652-5C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*18C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.*2G>C No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu108= No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu10dup No assertion criteria 21-HYDROXYLASE POLYMORPHISM
- p.Leu128= No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Phe440= No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser135= No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Benign/Likely benign 3
- c.939+11G>C Multiple submitters
- p.Pro268Leu Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser274= Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Likely benign 29
- c.1223-21C>T Multiple submitters
- c.1223-22C>T Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-4G>A Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Cys429= Multiple submitters
- p.Leu430= Multiple submitters
- p.Pro106= Multiple submitters
- p.Pro433= Multiple submitters
- c.1222+26G>A Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.203-46C>T Single submitter
- c.447+39G>A Single submitter
- c.652-4G>A Single submitter
- c.939+10G>A Single submitter
- c.939+12G>A Single submitter
- c.939+86G>A Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.-81A>C Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.-8G>A Single submitter
- c.*56C>G Single submitter
- p.Arg357= Single submitter
- p.Arg484= Single submitter
- p.Cys170= Single submitter
- p.Leu100= Single submitter
- p.Ser166= Single submitter
- p.Trp406Arg Single submitter Inborn genetic diseases
- p.Tyr337= Single submitter
- p.Tyr377= Single submitter
- c.292+37T>A No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.292+45_292+46insTGT No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.292+56T>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-136C>T No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Uncertain significance 123
- c.738+75C>T Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg150Ser Multiple submitters CYP21A2-related disorder
- p.Arg17Cys Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu163= Multiple submitters
- p.His403Arg Multiple submitters
- p.Leu30His Multiple submitters Inborn genetic diseases
- p.Pro402Leu Multiple submitters
- p.Thr124Ile Multiple submitters 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Trp23Cys Multiple submitters
- p.Val428Met Multiple submitters Inborn genetic diseases
- c.1222+15G>A Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.1223-18C>A Single submitter
- c.292+10G>A Single submitter
- c.292+46delinsTGTTG Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.447+27C>T Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.549+20G>A Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.651+36_652-49dup Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.652-3C>G Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.738+10G>A Single submitter
- c.738+4G>A Single submitter
- c.939+5G>A Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.-102G>A Single submitter CYP21A2-related disorder
- c.-19C>G Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.-210T>C Single submitter
- c.-73C>T Single submitter CYP21A2-related disorder
- p.Ala14Ser Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ala304Gly Single submitter Inborn genetic diseases
- p.Ala363Pro Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ala363Thr Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ala426Val Single submitter Inborn genetic diseases
- p.Ala81Val Single submitter
- p.Arg125His Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg133His Single submitter
- p.Arg26Gln Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg340Cys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg355Pro Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg427Pro Single submitter
- p.Arg445Pro Single submitter
- p.Arg61Gly Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg76Lys Single submitter
- p.Asp378Asn Single submitter
- p.Asp378Tyr Single submitter
- p.Gln448_Leu453del Single submitter
- p.Gln448Lys Single submitter Inborn genetic diseases
- p.Gln493Arg Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu247fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu279Lys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu381Asp Single submitter
- p.Gly15= Single submitter
- p.Gly391= Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Gly487Ala Single submitter
- p.His120Gln Single submitter Inborn genetic diseases
- p.His311Asn Single submitter
- p.Ile161Thr Single submitter
- p.Ile231Met Single submitter Inborn genetic diseases
- p.Ile237Met Single submitter
- p.Leu123Phe Single submitter
- p.Leu13Met Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu168Pro Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu176Pro Single submitter
- p.Leu242Val Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu262Pro Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu290Arg Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu301Phe Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu30Pro Single submitter Inborn genetic diseases
- p.Leu8Met Single submitter
- p.Lys121Gln Single submitter
- p.Lys246= Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Met240Thr Single submitter
- p.Met261Val Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Met486fs Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Met486Ile Single submitter Inborn genetic diseases
- p.Phe165Ser Single submitter
- p.Phe165Val Single submitter
- p.Phe405Leu Single submitter
- p.Phe405Ser Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Phe422Leu Single submitter Inborn genetic diseases
- p.Pro155Ser Single submitter
- p.Pro268Arg Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro32Ser Single submitter
- p.Pro336Leu Single submitter CYP21A2-related disorder
- p.Pro358Thr Single submitter Inborn genetic diseases
- p.Pro35Leu Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro380Ser Single submitter Inborn genetic diseases
- p.Ser114Ala Single submitter
- p.Ser203Gly Single submitter
- p.Thr201Ala Single submitter
- p.Thr368Ile Single submitter
- p.Trp205Arg Single submitter Inborn genetic diseases
- p.Trp20Cys Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Trp254Gly Single submitter Inborn genetic diseases
- p.Tyr105Cys Single submitter Inborn genetic diseases
- p.Tyr48His Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Tyr98Asn Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Tyr98Asp Single submitter
- p.Val306Gly Single submitter
- p.Val353Ala Single submitter 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Val359Ile Single submitter
- p.Val71_Leu72insValValVal Single submitter
- c.1223-3C>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.292+3A>G No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-100_293-99insG No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.293-131_293-129dup No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.739-74G>A No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- c.-103A>G No assertion criteria CYP21A2-related disorder
- p.Ala286Ser No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ala90Ser No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg17Leu No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg370Pro No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Arg401Gly No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Asp180Glu No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Asp457Glu No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Gln390His No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Glu162Gly No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu167Arg No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Leu167Val No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Phe477Ser No assertion criteria CYP21A2-related disorder
- p.Pro433Arg No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro46Arg No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Pro483Thr No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Ser469Gly No assertion criteria 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- p.Val250Ala No assertion criteria CYP21A2-related disorder
- p.Val398Ile No assertion criteria CYP21A2-related disorder