Sugi Variant

Sugi Variant/POR

POR — 829 ClinVar variants

All ClinVar germline POR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

47 Pathogenic · 15 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 60 Conflicting · 31 Benign · 10 Benign/Likely benign · 400 Likely benign · 232 Uncertain significance

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

All POR variants

Pathogenic 47

  • c.723-2A>T Multiple submitters Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
  • p.Ala538fs Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Arg220Ter Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly536Arg Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr245Ter Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr573Ter Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1807-1G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1807-2A>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala112fs Single submitter congenital adrenal hyperplasia
  • p.Ala390fs Single submitter POR-related disorder
  • p.Arg108Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg368fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn79fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp129fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp144fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp341fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln157Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln244Ter Single submitter Differences in sex development
  • p.Gln391fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln599Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln87Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu411Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu498Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu598fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu614fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly565fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile544fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu447fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Lys481fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Lys515fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Met107fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Phe276fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro396_Glu398del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro521fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro539fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr287fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr153fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr387fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr84Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val233fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+1G>A No assertion criteria Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Arg191fs No assertion criteria Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Glu559fs No assertion criteria congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr178Asp No assertion criteria congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr575Cys No assertion criteria Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Val489Glu No assertion criteria Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Val605Phe No assertion criteria congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Pathogenic/Likely pathogenic 15

  • c.821+1G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg454His Multiple submitters POR-related disorder
  • p.Arg551Ter Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg613Ter Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln452fs Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln606Ter Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Glu14Ter Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile441fs Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu22fs Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu561fs Multiple submitters congenital adrenal hyperplasia
  • p.Lys257fs Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr39fs Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Tyr478Ter Multiple submitters POR-related disorder
  • p.Tyr604Cys Multiple submitters POR-related disorder
  • p.Val469fs Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Likely pathogenic 34

  • c.1240-2A>G Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.179+2T>C Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Cys566Tyr Multiple submitters Differences in sex development
  • p.Leu562Pro Multiple submitters congenital adrenal hyperplasia
  • c.1239+1G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+1G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+2T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1389+1G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1389+1G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1501del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1647_1660+15del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+1G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+5_1660+32del Single submitter POR-related disorder
  • c.1661-2A>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-1G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-2A>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-1G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+2_821+3del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala500fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg450fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg495Pro Single submitter Fine-Lubinsky syndrome
  • p.Gln294Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln590fs Single submitter
  • p.Glu262Ter Single submitter congenital adrenal hyperplasia
  • p.Glu270fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly483fs Single submitter POR-related disorder
  • p.His625Pro Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu371His Single submitter congenital adrenal hyperplasia
  • p.Leu508fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu609_Trp617delinsArg Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Phe540fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Trp224Ter Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val64fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Trp493Arg No assertion criteria Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Conflicting classifications of pathogenicity 60

  • c.1239+10del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1240-11G>A Single submitter Differences in sex development
  • c.1389+10G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1389+15T>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1390-14G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-4G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.180-10T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1806+12G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1806+7C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1806+8G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1889+13G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1889+3G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-5C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+14G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.508-4G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-5C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+15C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*51C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*63C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala120= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala226= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala473= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala648= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala656Thr Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg454Leu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg547Trp Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg597Trp Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn130= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn384= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp585= Single submitter Inborn genetic diseases
  • p.Glu395Ala Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly410Ser Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly554= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.His103Arg Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu205= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu330= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu574= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Phe168= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro225Leu Single submitter Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Pro364= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro381= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro510Leu Single submitter Inborn genetic diseases
  • p.Pro527Ser Single submitter primary ovarian failure
  • p.Ser268= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser397= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser569Leu Single submitter Inborn genetic diseases
  • p.Thr26= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr365= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr526= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr642= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr105= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr140= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr187Cys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr245= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr392= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val161Met Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val188Met Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val469Leu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val469Met Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val628Ile Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Benign 31

  • c.1058-13C>G Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1058-66T>C Multiple submitters
  • c.1058-67C>T Multiple submitters
  • c.1058-97C>T Multiple submitters
  • c.1239+12C>T Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • c.1239+20G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1390-120G>A Multiple submitters
  • c.1390-173G>A Multiple submitters
  • c.1390-33G>T Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • c.1390-34T>C Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • c.228+88G>A Multiple submitters
  • c.229-95G>T Multiple submitters
  • c.357+89C>T Multiple submitters
  • c.633-27G>A Multiple submitters
  • c.633-72G>A Multiple submitters
  • c.722+225G>A Multiple submitters
  • c.723-187C>T Multiple submitters
  • c.*306G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala482= Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Ser569= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1455T>C Single submitter
  • c.1508C>T Single submitter
  • c.1660+10dup Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1716G>A Single submitter
  • c.179+193C>G Single submitter
  • c.179+273G>A Single submitter
  • c.180-10dup Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1889+14dup Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+38C>T Single submitter
  • c.821+116C>T Single submitter
  • p.Arg547= Single submitter

Benign/Likely benign 10

  • c.1239+10_1239+33del Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-17C>T Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.507+15_507+16del Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.508-14_508-13del Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala500Val Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn503= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly2= Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Pro126= Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Ser409= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr287= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Likely benign 400

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1057+17G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1058-15G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+11_1239+19del Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-20C>T Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-11G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+13C>T Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+246C>T Multiple submitters
  • c.357+98G>T Multiple submitters
  • c.633-20C>G Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-282C>T Multiple submitters
  • c.723-36C>T Multiple submitters
  • c.821+38A>G Multiple submitters
  • c.938+7G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*207C>G Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala112Val Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala183= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala390= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala507= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala95= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn356= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn592= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln391= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu116= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu156= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu619= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro449= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro52= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr251= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr535= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr560= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr644= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr671= Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1057+11C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1057+124G>A Single submitter
  • c.1057+12A>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1057+147C>G Single submitter
  • c.1057+18G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1057+195G>A Single submitter
  • c.1057+211C>T Single submitter
  • c.1058-221T>A Single submitter
  • c.1058-4G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+10C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+14_1239+22del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+14G>A Single submitter
  • c.1239+15C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+16C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+17C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+18C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+19C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+22_1239+30del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1239+28C>T Single submitter
  • c.1239+9C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1240-11G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1240-12C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1240-14C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1240-15C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1240-16C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1240-5C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1240-7C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1389+12C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1389+18C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1389+19C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1389+19C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1389+9C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1390-12C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1390-148C>T Single submitter
  • c.1390-15C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1390-34_1390-33delinsCT Single submitter Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • c.1390-4A>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1390-5C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1390-6C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1390-9T>G Single submitter
  • c.1660+10G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+12C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+16T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+16T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+17G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+17G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+8G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1660+9G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-10T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-12C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-13C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-16G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-19C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-20C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-5C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-7C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-7C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1661-9G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.179+10G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.179+14C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.179+14C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.179+15_179+16del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.179+16C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.179+9C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.180-15_180-14del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.180-18C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.180-5T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.180-8T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1806+10G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1806+11C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1806+15C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1806+15C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1806+9G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1807-12C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1807-15C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1807-4C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1807-7G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1807-8G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1889+7G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1889+8_1889+11del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1889+8A>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1889+9G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-11T>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-12_1890-11del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-12dup Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-13T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-14C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-15C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-17C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-19A>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-6G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1890-8C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.228+14A>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.228+14A>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.228+17T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.228+20T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.228+20T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-10C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-10C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-13C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-15_229-14del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-15G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-16T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-17G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-19_229-18del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-19C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-19C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-8T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-8T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-9C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.229-9C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+15C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+16G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+16G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+18G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+18G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.357+209G>C Single submitter
  • c.357+8G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.358-12_358-11del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.358-14C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.358-18C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.358-5T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.358-9_358-4del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.507+167C>T Single submitter
  • c.507+18T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.507+42G>A Single submitter
  • c.508-13T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.508-19G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.508-19G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.508-20C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.508-4G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.508-5C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.508-7C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.632+11A>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.632+14C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.632+15T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.632+17C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.632+18C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.632+7G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-10C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-12T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-14T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-16C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-20C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-20C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-7G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.633-8C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+10T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+123G>A Single submitter
  • c.722+14C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+15G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+15G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+17A>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+18G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.722+8A>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-11C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-11C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-13C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-15dup Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-16G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-19C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-7T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-9C>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.723-9C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+10G>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+13del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+16G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+17T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+17T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+18G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+20C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+9_821+24del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+9A>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.822-11T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.822-7C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.938+18C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.939-21_939-17del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.939-7C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.-13-7C>T Single submitter
  • p.Ala112= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala149= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala15= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala17= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala255= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala256= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala278= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala370= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala406= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala429= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala453= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala490= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala500= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala524= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala548= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala580= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala587= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala594= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala632= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala652= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala656= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala658= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg220= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg265= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg403= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg450= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg506= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg551= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg584= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg597= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg633= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg670= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg97= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn182= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn271= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn641= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn79= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp101= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp151= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp160= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp207= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp208= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp341= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp645= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp660= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp674= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Cys136= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Cys363= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln150= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln452= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln606= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu115= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu202= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu246= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu270= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu398= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu502= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu50del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu546= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu577= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly141= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly165= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly172= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly174= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly196= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly204= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly206= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly237= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly488= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly501= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly504= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly536= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly558= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly565= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly622= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly623= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly651= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.His180= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.His465= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.His470= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.His5= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.His655= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile128= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile200= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile217= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile29= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile34= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile441= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile458= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Uncertain significance 232

  • c.1660+5G>C Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.938+3A>G Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.-14G>A Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • c.-14G>C Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*372G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*76G>A Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala102Thr Multiple submitters Inborn genetic diseases
  • p.Ala131Thr Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala15Val Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Ala169Val Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala255Val Multiple submitters Inborn genetic diseases
  • p.Ala329Thr Multiple submitters Inborn genetic diseases
  • p.Ala459Thr Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala473Val Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala482Thr Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg104His Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg108Gln Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg191Gln Multiple submitters Inborn genetic diseases
  • p.Arg191Trp Multiple submitters Inborn genetic diseases
  • p.Arg265Trp Multiple submitters Inborn genetic diseases
  • p.Arg403Cys Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg403His Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg424Trp Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg506Cys Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg514Pro Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg519Cys Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg547Gln Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg567His Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg568Cys Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg576Trp Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg584Gly Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn182Ser Multiple submitters
  • p.Asn79Ile Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp129Asn Multiple submitters Inborn genetic diseases
  • p.Asp645Asn Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gln272Arg Multiple submitters Inborn genetic diseases
  • p.Glu142Asp Multiple submitters Inborn genetic diseases
  • p.Glu193Asp Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Glu214del Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu270Lys Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu498Lys Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu50Asp Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu50Val Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu53Lys Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu577Gln Multiple submitters
  • p.Glu621Lys Multiple submitters Inborn genetic diseases
  • p.Glu654Asp Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly106Arg Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly237Asp Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly483Ser Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly504Ser Multiple submitters Inborn genetic diseases
  • p.Gly505Ser Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly534Arg Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly534Ser Multiple submitters Inborn genetic diseases
  • p.Gly565Ser Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly623Ser Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile529Val Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu22Phe Multiple submitters Inborn genetic diseases
  • p.Leu574Pro Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Leu591Val Multiple submitters Inborn genetic diseases
  • p.Leu619Val Multiple submitters Inborn genetic diseases
  • p.Lys46Asn Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Lys664Thr Multiple submitters Inborn genetic diseases
  • p.Phe54Leu Multiple submitters Inborn genetic diseases
  • p.Pro281Leu Multiple submitters POR-related disorder
  • p.Pro281Thr Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro466Ala Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser268Arg Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr369Met Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr372Ile Multiple submitters Inborn genetic diseases
  • p.Thr526Met Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Thr535Pro Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr61Ile Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr667Ala Multiple submitters Inborn genetic diseases
  • p.Trp419Gly Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr117His Multiple submitters Inborn genetic diseases
  • p.Val12Met Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val188Leu Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Val258Met Multiple submitters Inborn genetic diseases
  • p.Val35Met Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val489Met Multiple submitters Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Val605Ile Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val647Met Multiple submitters congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1057+3G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.1060_1062delGAG Single submitter
  • c.229-3T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.821+2dup Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.939-14A>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*137G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*178C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*179G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*218C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*219G>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*21C>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*240C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*273T>C Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*291G>A Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*33C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*40T>G Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • c.*60C>T Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala169= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala197Thr Single submitter
  • p.Ala390Val Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala459Pro Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala524Val Single submitter Inborn genetic diseases
  • p.Ala580Val Single submitter Inborn genetic diseases
  • p.Ala658Val Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ala91Val Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg104Cys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg199His Single submitter Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Arg298His Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg368His Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg450His Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg484His Single submitter
  • p.Arg495Trp Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg514His Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg576Gln Single submitter
  • p.Arg670His Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Arg78Lys Single submitter Inborn genetic diseases
  • p.Asn130Ser Single submitter Inborn genetic diseases
  • p.Asn356Lys Single submitter Inborn genetic diseases
  • p.Asn592Lys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asn641Lys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp101Asn Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp154Asn Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp162Ala Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp162Tyr Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp208Asn Single submitter
  • p.Asp209Asn Single submitter
  • p.Asp209His Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp252Asn Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp252Gly Single submitter Inborn genetic diseases
  • p.Asp442Glu Single submitter Inborn genetic diseases
  • p.Asp572Asn Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Asp638Ala Single submitter Inborn genetic diseases
  • p.Asp645Gly Single submitter Ambiguous genitalia
  • p.Gln599Arg Single submitter
  • p.Gln657Glu Single submitter Inborn genetic diseases
  • p.Glu14Lys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu202Gln Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu262Ala Single submitter Inborn genetic diseases
  • p.Glu354Lys Single submitter
  • p.Glu398_Gln399insProSerGlu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu400Asp Single submitter Inborn genetic diseases
  • p.Glu502Gln Single submitter Inborn genetic diseases
  • p.Glu502Lys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu571Asp Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu614Lys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Glu649Gln Single submitter Inborn genetic diseases
  • p.Glu92Gln Single submitter Inborn genetic diseases
  • p.Gly141Asp Single submitter Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Gly141Ser Single submitter
  • p.Gly172Ser Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly2Ala Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly412= Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly501Arg Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Gly542Ser Single submitter Inborn genetic diseases
  • p.Gly586Ser Single submitter Inborn genetic diseases
  • p.His230Pro Single submitter Inborn genetic diseases
  • p.His655Gln Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile200Val Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile34Met Single submitter Inborn genetic diseases
  • p.Ile377Val Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile529del Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ile541Leu Single submitter
  • p.Ile646Met Single submitter
  • p.Leu212Ser Single submitter
  • p.Leu247Pro Single submitter
  • p.Leu43Phe Single submitter
  • p.Lys358Gln Single submitter Inborn genetic diseases
  • p.Lys46Arg Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Lys47Glu Single submitter Inborn genetic diseases
  • p.Lys618Glu Single submitter
  • p.Lys664fs Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Lys668Glu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Met184Ile Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Met184Leu Single submitter
  • p.Met260Arg Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Met653Ile Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Met653Val Single submitter Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Phe168Leu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Phe171Ile Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Phe216Val Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Phe223Cys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Phe231Cys Single submitter
  • p.Phe643del Single submitter
  • p.Phe69Leu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro274Leu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro362Leu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Pro364Arg Single submitter
  • p.Pro364Leu Single submitter
  • p.Pro380Leu Single submitter
  • p.Pro440Ala Single submitter Inborn genetic diseases
  • p.Pro449Leu Single submitter
  • p.Pro539Ser Single submitter
  • p.Ser111Pro Single submitter
  • p.Ser123Arg Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser124Asn Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser394Leu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser408Ala Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser409Tyr Single submitter Inborn genetic diseases
  • p.Ser436Phe Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser516Phe Single submitter Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • p.Ser99Pro Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser9Asn Single submitter Inborn genetic diseases
  • p.Ter678Glu Single submitter
  • p.Thr177Ala Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr177Ser Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr26Met Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr378Asn Single submitter Inborn genetic diseases
  • p.Thr39Ala Single submitter
  • p.Thr55Ala Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr560Met Single submitter 46 XY differences of sex development
  • p.Thr76Ala Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr88Met Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Thr8Asn Single submitter Inborn genetic diseases
  • p.Trp419Leu Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Trp617Cys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr153Cys Single submitter Inborn genetic diseases
  • p.Tyr259Ser Single submitter
  • p.Tyr627His Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Tyr84Cys Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val161Gly Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val248Ala Single submitter Inborn genetic diseases
  • p.Val345Ile Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val385Met Single submitter Inborn genetic diseases
  • p.Val474Leu Single submitter
  • p.Val509Ala Single submitter congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Val513Met Single submitter Inborn genetic diseases
  • p.Val593Met Single submitter Inborn genetic diseases
  • p.Arg265Gln No assertion criteria congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  • p.Ser408Pro No assertion criteria Hirschsprung disease