Gene Variant Phenotype Reference for source of in vitro data or phenotype SIFT PolyPhen2 PON-P Variant activity (% to Wildypte) CYP11A1 A160T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11A1 A163T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11A1 A269V P450scc deficiency Sahakitrungruang (2011) J Clin Endocrinol Metab 96:792 DELETERIOUS probably damaging UV 11 CYP11A1 A359V XY sex reversal and adrenal insufficiency Al Kandari (2006) J Clin Endocrinol Metab 91:2821 DELETERIOUS probably damaging UV 10 CYP11A1 C16Y No associated phenotype 　 DELETERIOUS probably damaging UV 　 CYP11A1 E114D NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11A1 E217A No phenotype recorded dbSNP entry rs143879080 DELETERIOUS possibly damaging UV 　 CYP11A1 E314K No phenotype recorded dbSNP entry rs6161 TOLERATED benign UV 　 CYP11A1 F274L NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11A1 G15C No phenotype recorded dbSNP entry rs11544450 DELETERIOUS possibly damaging N 　 CYP11A1 G192R NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11A1 G55C NO ASSOCIATED PHENOTYPE 　 TOLERATED probably damaging UV 　 CYP11A1 G94S NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11A1 H242Y NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging N 　 CYP11A1 I301M No phenotype recorded dbSNP entry rs1049968 DELETERIOUS possibly damaging N 　 CYP11A1 L141W XY sex reversal and adrenal insufficiency Kim (2008) J Clin Endocrinol Metab 93:696 DELETERIOUS probably damaging UV 40 CYP11A1 L222P Adrenal insufficiency & hypospadias Rubtsov (2009) J Clin Endocrinol Metab 94:936 DELETERIOUS probably damaging N 10 CYP11A1 L305F NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 CYP11A1 L6R NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP11A1 M333I NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging N 　 CYP11A1 P513S NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11A1 Q364R No phenotype recorded dbSNP entry rs57982762 TOLERATED possibly damaging UV 　 CYP11A1 R299H NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP11A1 R29H NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11A1 R353G No phenotype recorded dbSNP entry rs72547508 DELETERIOUS probably damaging UV 　 CYP11A1 R353W Adrenal insufficiency Katsumata (2002) J Clin Endocrinol Metab 87:3808 DELETERIOUS probably damaging P <10 CYP11A1 R451W Adrenal insufficiency Parajes (2011) J Clin Endocrinol Metab 96:E1798 DELETERIOUS probably damaging UV 38 CYP11A1 R465W NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11A1 T331M NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 CYP11A1 V179I No phenotype recorded dbSNP entry rs58174009 TOLERATED benign N 　 CYP11A1 V294I NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11A1 V415E XY sex reversal and adrenal insufficiency Kim (2008) J Clin Endocrinol Metab 93:696 DELETERIOUS probably damaging P <5 CYP11A1 V79I No phenotype recorded dbSNP entry rs143655263 TOLERATED benign N 　 CYP11B1 A331V Adrenal hyperplasia Geley (1996) J Clin Endocrinol Metab 81:2896 DELETERIOUS possibly damaging N 0 CYP11B1 A386V Adrenal hyperplasia Amin (2002) Hum Genet 110:295 TOLERATED benign UV 　 CYP11B1 E371G Adrenal hyperplasia Geley (1996) J Clin Endocrinol Metab 81:2896 DELETERIOUS probably damaging P 0 CYP11B1 F321V Adrenal hyperplasia Amin (2002) Hum Genet 110:295 TOLERATED benign N 　 CYP11B1 G267D Adrenal hyperplasia Skinner (1996) J Clin Endocrinol Metab 81:2389 DELETERIOUS benign N 　 CYP11B1 G267R Adrenal hyperplasia Skinner (1996) J Clin Endocrinol Metab 81:2389 DELETERIOUS possibly damaging UV 　 CYP11B1 L461P Adrenal hyperplasia Chang (2004) J Formos Med Assoc 103:860 TOLERATED probably damaging UV 　 CYP11B1 L489S Adrenal hyperplasia Peters (2007) Horm Res 67:189 DELETERIOUS probably damaging UV 　 CYP11B1 R341S Adrenal hyperplasia Amin (2002) Hum Genet 110:295 DELETERIOUS probably damaging UV 　 CYP11B1 R427H Adrenal hyperplasia Skinner (1996) J Clin Endocrinol Metab 81:2389 DELETERIOUS probably damaging UV 　 CYP11B1 R43Q Adrenal hyperplasia Amin (2002) Hum Genet 110:295 TOLERATED benign N 30-50 CYP11B1 R448C Adrenal hyperplasia Geley (1996) J Clin Endocrinol Metab 81:2896 DELETERIOUS probably damaging P 0 CYP11B1 R453Q Adrenal hyperplasia Krone (2009) Horm Res 72:281 DELETERIOUS probably damaging UV 1 CYP11B1 V129M Adrenal hyperplasia Geley (1996) J Clin Endocrinol Metab 81:2896 DELETERIOUS probably damaging N 0 CYP11B1 H125R Altered enzyme function Barr (2006) Clin Endocrinol (Oxf) 65:816 TOLERATED probably damaging UV 30-50 CYP11B1 L158P Altered enzyme function Barr (2006) Clin Endocrinol (Oxf) 65:816 DELETERIOUS possibly damaging UV 3 CYP11B1 L186V Altered enzyme function Barr (2006) Clin Endocrinol (Oxf) 65:816 TOLERATED benign N >200 CYP11B1 L83S Altered enzyme function Barr (2006) Clin Endocrinol (Oxf) 65:816 DELETERIOUS benign UV 3 CYP11B1 A180T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 D63H NO ASSOCIATED PHENOTYPE 　 TOLERATED benign UV 　 CYP11B1 E421K NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 CYP11B1 F257L NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 K173R NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 L204V NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP11B1 M240T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 N133K NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B1 N222K NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 P414A NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 P425T NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B1 P77S NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B1 Q121E NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 Q285H NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 Q393P NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B1 R143W NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 R181P NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B1 R246H NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B1 R30W NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP11B1 R332Q NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B1 S150L NO ASSOCIATED PHENOTYPE 　 TOLERATED probably damaging N 　 CYP11B1 S17F NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP11B1 S281N NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B1 T26M NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP11B1 V9M NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 CYP11B1 Y275H NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging N 　 CYP11B1 A29T No phenotype recorded dbSNP entry rs144224988 TOLERATED benign N 　 CYP11B1 A348T No phenotype recorded dbSNP entry rs6407 TOLERATED benign N 　 CYP11B1 C10Y No phenotype recorded dbSNP entry rs6405 TOLERATED probably damaging N 　 CYP11B1 C262Y No phenotype recorded dbSNP entry rs61751155 TOLERATED benign N 　 CYP11B1 D167N No phenotype recorded dbSNP entry rs61751152 DELETERIOUS probably damaging UV 　 CYP11B1 E147D No phenotype recorded dbSNP entry rs61751148 TOLERATED benign N 　 CYP11B1 L293V No phenotype recorded dbSNP entry rs5292 DELETERIOUS possibly damaging N 　 CYP11B1 M160I No phenotype recorded dbSNP entry rs5287 DELETERIOUS probably damaging N 　 CYP11B1 N133D No phenotype recorded dbSNP entry rs104894067 TOLERATED probably damaging UV 　 CYP11B1 N152K No phenotype recorded dbSNP entry rs61751149 TOLERATED benign N 　 CYP11B1 N335D No phenotype recorded dbSNP entry rs61752766 TOLERATED benign N 　 CYP11B1 R123C No phenotype recorded dbSNP entry rs145050906 DELETERIOUS possibly damaging UV 　 CYP11B1 R404H No phenotype recorded dbSNP entry rs4998896 TOLERATED benign N 　 CYP11B1 S112I No phenotype recorded dbSNP entry rs61751139 TOLERATED benign N 　 CYP11B1 T248I No phenotype recorded dbSNP entry rs34620645 TOLERATED benign N 　 CYP11B1 Y439H No phenotype recorded dbSNP entry rs5294 TOLERATED benign N 　 CYP11B1 F139L Reduced expression Barr (2006) Clin Endocrinol (Oxf) 65:816 TOLERATED benign N 30-50 CYP11B1 P135S Reduced expression Barr (2006) Clin Endocrinol (Oxf) 65:816 DELETERIOUS possibly damaging N 2 to 10 CYP11B1 T196A Reduced expression Barr (2006) Clin Endocrinol (Oxf) 65:816 TOLERATED possibly damaging UV 30-50 CYP11B1 A165D Steroid-11 beta-hydroxylase deficiency Parajes (2010) J Clin Endocrinol Metab 95:779 DELETERIOUS probably damaging P 2 CYP11B1 A259D Steroid-11 beta-hydroxylase deficiency Chabraoui (2010) Horm Res Paediatr 74:182 DELETERIOUS possibly damaging UV 　 CYP11B1 A306V Steroid-11 beta-hydroxylase deficiency Lee (2005) Clin Endocrinol (Oxf) 62:418 DELETERIOUS probably damaging UV 　 CYP11B1 A368D Steroid-11 beta-hydroxylase deficiency Krone (2006) J Clin Endocrinol Metab 91:2682 DELETERIOUS probably damaging P 1 CYP11B1 G314R Steroid-11 beta-hydroxylase deficiency Kuribayashi (2005) Horm Res 63:284 DELETERIOUS probably damaging P 0 CYP11B1 G379V Steroid-11 beta-hydroxylase deficiency Kharrat (2010) Clin Genet 78:398 DELETERIOUS probably damaging N 　 CYP11B1 G444D Steroid-11 beta-hydroxylase deficiency Motaghedi (2005) J Pediatr Endocrinol Metab 18:133 DELETERIOUS probably damaging P 　 CYP11B1 G446V Steroid-11 beta-hydroxylase deficiency Chabraoui (2010) Horm Res Paediatr 74:182 DELETERIOUS probably damaging P 　 CYP11B1 L299P Steroid-11 beta-hydroxylase deficiency Krone (2005) J Clin Endocrinol Metab 90:3724 DELETERIOUS probably damaging UV 1 CYP11B1 N133H Steroid-11 beta-hydroxylase deficiency Joehrer (1997) Hum Mol Genet 6:1829 DELETERIOUS probably damaging P 17 CYP11B1 P42S Steroid-11 beta-hydroxylase deficiency Joehrer (1997) Hum Mol Genet 6:1829 DELETERIOUS probably damaging UV 15 CYP11B1 P94L Steroid-11 beta-hydroxylase deficiency Grigorescu Sido (2005) J Clin Endocrinol Metab 90:5769 DELETERIOUS probably damaging UV 0-2 CYP11B1 R374Q Steroid-11 beta-hydroxylase deficiency Curnow (1993) Proc Natl Acad Sci U S A 90:4552 DELETERIOUS probably damaging P 0 CYP11B1 R384G Steroid-11 beta-hydroxylase deficiency Nakayama (1995) Eur J Endocrinol 132:286 DELETERIOUS probably damaging P 　 CYP11B1 R384Q Steroid-11 beta-hydroxylase deficiency Curnow (1993) Proc Natl Acad Sci U S A 90:4552 DELETERIOUS probably damaging P 0 CYP11B1 R448H Steroid-11 beta-hydroxylase deficiency White (1991) J Clin Invest 87:1664 DELETERIOUS probably damaging P 0 CYP11B1 R454C Steroid-11 beta-hydroxylase deficiency Ye (2010) Chin Med J (Engl) 123:1264 DELETERIOUS probably damaging UV 　 CYP11B1 S217I Steroid-11 beta-hydroxylase deficiency Charfeddine (2011) Gen Comp Endocrinol : DELETERIOUS probably damaging N 　 CYP11B1 T318M Steroid-11 beta-hydroxylase deficiency Curnow (1993) Proc Natl Acad Sci U S A 90:4552 DELETERIOUS probably damaging P 0 CYP11B1 T318P Steroid-11 beta-hydroxylase deficiency Lee (2005) Clin Endocrinol (Oxf) 62:418 DELETERIOUS benign P 　 CYP11B1 T318R Steroid-11 beta-hydroxylase deficiency Merke (1998) J Clin Endocrinol Metab 83:270 DELETERIOUS probably damaging P 　 CYP11B1 T319M Steroid-11 beta-hydroxylase deficiency Joehrer (1997) Hum Mol Genet 6:1829 DELETERIOUS probably damaging P 37 CYP11B1 V441G Steroid-11 beta-hydroxylase deficiency Curnow (1993) Proc Natl Acad Sci U S A 90:4552 DELETERIOUS possibly damaging UV 0 CYP11B1 W116C Steroid-11 beta-hydroxylase deficiency Krone (2005) J Clin Endocrinol Metab 90:3724 DELETERIOUS probably damaging UV 3 CYP11B1 W116G Steroid-11 beta-hydroxylase deficiency Parajes (2010) J Clin Endocrinol Metab 95:779 DELETERIOUS probably damaging UV 0 CYP11B1 M88I Steroid-11 beta-hydroxylase deficiency, non-classic Parajes (2010) J Clin Endocrinol Metab 95:779 TOLERATED benign N 73 CYP11B1 P159L Steroid-11 beta-hydroxylase deficiency, non-classic Parajes (2010) J Clin Endocrinol Metab 95:779 DELETERIOUS probably damaging UV 40 CYP11B2 A28V NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP11B2 A29T No phenotype recorded dbSNP entry rs6438 TOLERATED benign N 　 CYP11B2 A346T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 A367V NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP11B2 A414P Altered steroid production Holloway (2009) Clin Endocrinol (Oxf) 70:363 TOLERATED benign N 60 CYP11B2 D147E NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 D317E NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 CYP11B2 D335G Aldosterone synthase deficiency Leshinsky-Silver (2006) Horm Res 66:73 TOLERATED benign N 50 CYP11B2 D335N Altered steroid production Holloway (2009) Clin Endocrinol (Oxf) 70:363 TOLERATED benign N >100 CYP11B2 E198D Aldosterone synthase deficiency Portrat-Doyen (1998) J Clin Endocrinol Metab 83:4156 DELETERIOUS probably damaging P 30 CYP11B2 E228G NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 E383V No phenotype recorded dbSNP entry rs5312 DELETERIOUS probably damaging N 　 CYP11B2 F487V No phenotype recorded dbSNP entry rs5317 DELETERIOUS probably damaging UV 20 CYP11B2 G288S Altered steroid production Holloway (2009) Clin Endocrinol (Oxf) 70:363 TOLERATED benign N >100 CYP11B2 G435S Corticosterone methyl oxidase deficiency Kuribayashi (2003) Horm Res 60:255 TOLERATED benign UV 　 CYP11B2 H225R NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 H439Y Altered steroid production Holloway (2009) Clin Endocrinol (Oxf) 70:363 TOLERATED benign N >100 CYP11B2 H63D NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 I248T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 I339T No phenotype recorded dbSNP entry rs4544 TOLERATED benign N 　 CYP11B2 I339V No phenotype recorded dbSNP entry rs140405063 TOLERATED benign N 　 CYP11B2 K173R Low renin hypertension, association with Fardella (1996) J Clin Endocrinol Metab 81:4347 TOLERATED benign N 　 CYP11B2 K296N Altered steroid production Holloway (2009) Clin Endocrinol (Oxf) 70:363 TOLERATED benign UV 70 CYP11B2 L461P Corticosterone methyl oxidase deficiency Nomoto (1997) Biochem Biophys Res Commun 234:382 TOLERATED probably damaging P 　 CYP11B2 L461Q No phenotype recorded dbSNP entry rs72554627 TOLERATED benign UV 　 CYP11B2 L461R No phenotype recorded dbSNP entry rs72554627 TOLERATED possibly damaging P 　 CYP11B2 L497I NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 M68I No phenotype recorded dbSNP entry rs61758593 DELETERIOUS benign N 　 CYP11B2 N281S No phenotype recorded dbSNP entry rs4537 TOLERATED benign N 　 CYP11B2 N281T Altered steroid production Holloway (2009) Clin Endocrinol (Oxf) 70:363 TOLERATED benign N >100 CYP11B2 N503T No phenotype recorded dbSNP entry rs146765393 TOLERATED benign N 　 CYP11B2 P418R NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging UV 　 CYP11B2 Q338E NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 Q338P NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 CYP11B2 Q404R Altered steroid production Holloway (2009) Clin Endocrinol (Oxf) 70:363 TOLERATED benign N >100 CYP11B2 R138H NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 CYP11B2 R181Q Corticosterone methyl oxidase deficiency Tin (2011) J Steroid Biochem Mol Biol 124:31 TOLERATED possibly damaging N <5 CYP11B2 R181W Corticosterone methyl oxidase deficiency Pascoe (1992) Proc Natl Acad Sci U S A 89:4996 DELETERIOUS probably damaging P <5 CYP11B2 R30Q No phenotype recorded dbSNP entry rs6441 TOLERATED benign N 　 CYP11B2 R332W NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B2 R366W NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 CYP11B2 R374W Aldosterone synthase deficiency, type 1 Nguyen (2010) Mol Genet Metab 100:357 DELETERIOUS probably damaging P 　 CYP11B2 R384P Corticosterone methyl oxidase deficiency Geley (1995) J Clin Endocrinol Metab 80:424 DELETERIOUS probably damaging P 70 CYP11B2 R87G Altered steroid production Holloway (2009) Clin Endocrinol (Oxf) 70:363 TOLERATED benign N 90 CYP11B2 S308P Aldosterone synthase deficiency Løvås (2009) J Clin Endocrinol Metab 94:914 TOLERATED possibly damaging N 　 CYP11B2 S315I NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B2 S315R Aldosterone synthase deficiency, type 1 Nguyen (2010) Mol Genet Metab 100:357 TOLERATED probably damaging UV 100 CYP11B2 T185I Corticosterone methyl oxidase deficiency Peter (1998) Eur J Pediatr 157:378 DELETERIOUS probably damaging UV <10 CYP11B2 T318M Corticosterone methyl oxidase deficiency Zhang (1995) Am J Hum Genet 57:1037 DELETERIOUS probably damaging P 　 CYP11B2 T493M NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 T498A Aldosterone synthase deficiency, type 2 Dunlop (2003) J Clin Endocrinol Metab 88:2518 DELETERIOUS probably damaging UV 　 CYP11B2 T498P No phenotype recorded dbSNP entry rs72554626 DELETERIOUS probably damaging UV 　 CYP11B2 T498S No phenotype recorded dbSNP entry rs72554626 DELETERIOUS probably damaging UV 　 CYP11B2 V129M NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 CYP11B2 V235I No phenotype recorded dbSNP entry rs149706111 TOLERATED benign N 　 CYP11B2 V385A NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP11B2 V386A Corticosterone methyl oxidase deficiency Pascoe (1992) Proc Natl Acad Sci U S A 89:4996 TOLERATED benign N 　 CYP11B2 V403E No phenotype recorded dbSNP entry rs5315 DELETERIOUS probably damaging P 　 CYP11B2 Y275C NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP11B2 Y61F No phenotype recorded dbSNP entry rs147109119 TOLERATED benign N 　 CYP17A1 A105V NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 CYP17A1 A174E Steroid-17 alpha-hydroxylase deficiency Dhir (2009) J Clin Endocrinol Metab 94:3058 DELETERIOUS possibly damaging P 7 CYP17A1 A302P Steroid-17 alpha-hydroxylase deficiency Rosa (2007) J Clin Endocrinol Metab 92:1000 DELETERIOUS probably damaging UV 10 to 20 CYP17A1 A355T 17-alpha-hydroxylase/17,20-lyase deficiency Rosa (2010) Horm Res Paediatr 73:198 DELETERIOUS probably damaging N <5 CYP17A1 A398V 17-alpha-hydroxylase/17,20-lyase deficiency Hong (2003) Hum Genet 113:465 DELETERIOUS probably damaging P 　 CYP17A1 A82D 17-alpha-hydroxylase/17,20-lyase deficiency Wang (2011) Metabolism 60:1386 DELETERIOUS probably damaging P <5 CYP17A1 C22W No phenotype recorded dbSNP entry rs762563 TOLERATED probably damaging N 　 CYP17A1 C442R 17-alpha-hydroxylase/17,20-lyase deficiency Wang (2011) Metabolism 60:1386 DELETERIOUS probably damaging P <1 CYP17A1 D116V 17-alpha-hydroxylase/17,20-lyase deficiency Van Den Akker (2002) J Clin Endocrinol Metab 87:5714 DELETERIOUS probably damaging P 37.7 CYP17A1 D241Y No phenotype recorded dbSNP entry rs61754275 DELETERIOUS possibly damaging N 　 CYP17A1 E305G 17,20-lyase deficiency Sherbet (2003) J Biol Chem 278:48563 DELETERIOUS probably damaging P >100 CYP17A1 E330K No phenotype recorded dbSNP entry rs142037395 TOLERATED benign UV 　 CYP17A1 F114V 17-alpha-hydroxylase/17,20-lyase deficiency Van Den Akker (2002) J Clin Endocrinol Metab 87:5714 DELETERIOUS probably damaging P 2.2 CYP17A1 F417C PROBABLE PATHOGENIC 　 DELETERIOUS probably damaging P <1 CYP17A1 F453S 17-alpha-hydroxylase/17,20-lyase deficiency Yang (2006) J Clin Endocrinol Metab 91:3619 DELETERIOUS probably damaging UV 30 CYP17A1 F93C 17-alpha-hydroxylase/17,20-lyase deficiency Di Cerbo (2002) J Clin Endocrinol Metab 87:898 DELETERIOUS probably damaging P 11 CYP17A1 G111S 17-alpha-hydroxylase/17,20-lyase deficiency Rosa (2010) Horm Res Paediatr 73:198 TOLERATED probably damaging N <1 CYP17A1 G162R NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging UV 　 CYP17A1 G471E NO ASSOCIATED PHENOTYPE 　 TOLERATED benign UV 　 CYP17A1 G77S No phenotype recorded dbSNP entry rs61754265 TOLERATED probably damaging UV 　 CYP17A1 G90D Steroid-17 alpha-hydroxylase deficiency Yanase (1995) J Steroid Biochem Mol Biol 53:153 DELETERIOUS probably damaging UV 　 CYP17A1 H373D 17-alpha-hydroxylase/17,20-lyase deficiency Sahakitrungruang (2009) J Clin Endocrinol Metab 94:3089 DELETERIOUS probably damaging P <1 CYP17A1 H373L Steroid-17 alpha-hydroxylase deficiency Monno (1993) J Biol Chem 268:25811 DELETERIOUS probably damaging P <1 CYP17A1 H373N 17-alpha-hydroxylase/17,20-lyase deficiency Katsumata (2009) Metabolism 59:275 DELETERIOUS probably damaging P <1 CYP17A1 H46Q No phenotype recorded dbSNP entry rs6162 TOLERATED possibly damaging UV 　 CYP17A1 I332T 17-alpha-hydroxylase/17,20-lyase deficiency Rosa (2010) Horm Res Paediatr 73:198 DELETERIOUS probably damaging N 15 to 25 CYP17A1 I455L NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 CYP17A1 K237E NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP17A1 L209P 17-alpha-hydroxylase/17,20-lyase deficiency Yao (2009) Hum Genet 126:340 DELETERIOUS possibly damaging P 　 CYP17A1 L266M NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 CYP17A1 L363F No phenotype recorded dbSNP entry rs61754279 TOLERATED benign N 　 CYP17A1 L465P Steroid-17 alpha-hydroxylase deficiency Dhir (2009) J Clin Endocrinol Metab 94:3058 DELETERIOUS probably damaging UV 3 CYP17A1 M1I Steroid-17 alpha-hydroxylase deficiency Satoh (1998) Neurology 51:1748 DELETERIOUS probably damaging N 　 CYP17A1 M1T Steroid-17 alpha-hydroxylase deficiency Costa-Santos (2004) J Clin Endocrinol Metab 89:49 DELETERIOUS probably damaging UV 　 CYP17A1 N177D 17,20-lyase deficiency Biason-Lauber (2000) J Clin Endocrinol Metab 85:1226 DELETERIOUS probably damaging P 10 CYP17A1 P342T Pseudohermaphroditism Ahlgren (1992) J Clin Endocrinol Metab 74:667 DELETERIOUS probably damaging UV 20 CYP17A1 P409R Steroid-17 alpha-hydroxylase deficiency Lam (2001) Mol Genet Metab 72:254 DELETERIOUS probably damaging P <1 CYP17A1 P428L 17-alpha-hydroxylase/17,20-lyase deficiency Hong (2003) Hum Genet 113:465 DELETERIOUS probably damaging UV 　 CYP17A1 P434L 17-alpha-hydroxylase/17,20-lyase deficiency Yang (2006) J Clin Endocrinol Metab 91:3619 DELETERIOUS probably damaging UV <10 CYP17A1 R125Q Steroid-17 alpha-hydroxylase deficiency Ergun-Longmire (2006) J Clin Endocrinol Metab 91:4179 DELETERIOUS probably damaging P 0 CYP17A1 R21K 17-alpha-hydroxylase/17,20-lyase deficiency Nuzzo (2009) J Endocrinol Invest 32:322 TOLERATED benign N 　 CYP17A1 R239Q Steroid-17 alpha-hydroxylase deficiency Turan (2009) Eur J Endocrinol 160:325 DELETERIOUS probably damaging UV 　 CYP17A1 R347C 17,20-lyase deficiency Van Den Akker (2002) J Clin Endocrinol Metab 87:5714 DELETERIOUS probably damaging P 13.6 CYP17A1 R347H Steroid-17 alpha-hydroxylase deficiency Geller (1996) Pediatr Res 39:89A DELETERIOUS probably damaging P 44.1 CYP17A1 R349C NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP17A1 R358Q Steroid-17 alpha-hydroxylase deficiency Geller (1996) Pediatr Res 39:89A TOLERATED probably damaging UV 65 CYP17A1 R362C Steroid-17 alpha-hydroxylase deficiency Martin (2003) J Clin Endocrinol Metab 88:5739 DELETERIOUS probably damaging P 　 CYP17A1 R362H 17-alpha-hydroxylase/17,20-lyase deficiency Nájera (2009) Endocr Pathol 20:249 DELETERIOUS probably damaging P 　 CYP17A1 R416C Steroid-17 alpha-hydroxylase deficiency Takeda (2001) Clin Endocrinol (Oxf) 54:751 DELETERIOUS probably damaging P 8 CYP17A1 R416H Steroid-17 alpha-hydroxylase deficiency Ergun-Longmire (2006) J Clin Endocrinol Metab 91:4179 DELETERIOUS probably damaging UV 0 CYP17A1 R440C Steroid-17 alpha-hydroxylase deficiency Patocs (2005) Hum Genet 116:539 DELETERIOUS probably damaging P 0 CYP17A1 R440H Steroid-17 alpha-hydroxylase deficiency Fardella (1994) J Clin Endocrinol Metab 79:160 DELETERIOUS probably damaging P <1 CYP17A1 R449C 17-alpha-hydroxylase/17,20-lyase deficiency Min (2007) Hum Genet 121:292 DELETERIOUS probably damaging UV 　 CYP17A1 R496C Steroid-17 alpha-hydroxylase deficiency Yanase (1992) Biochim Biophys Acta 1139:275 DELETERIOUS probably damaging P <10 CYP17A1 R496H 17,20-lyase deficiency Biason-Lauber (2000) J Clin Endocrinol Metab 85:1226 DELETERIOUS probably damaging P 38 CYP17A1 R96Q 17-alpha-hydroxylase/17,20-lyase deficiency Brooke (2006) J Clin Endocrinol Metab 91:2428 DELETERIOUS probably damaging P 0 CYP17A1 R96W 17-alpha-hydroxylase/17,20-lyase deficiency Laflamme (1996) J Clin Endocrinol Metab 81:264 DELETERIOUS probably damaging P 25 CYP17A1 S106P Steroid-17 alpha-hydroxylase deficiency Lin (1991) J Biol Chem 266:15992 DELETERIOUS probably damaging P <1 CYP17A1 S210G NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP17A1 S234R NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP17A1 T11I NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP17A1 T152R NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP17A1 T228I Steroid-17 alpha-hydroxylase deficiency Adachi (2004) Pediatr Int 46:583 TOLERATED possibly damaging N 　 CYP17A1 V178D Steroid-17 alpha-hydroxylase deficiency Dhir (2009) J Clin Endocrinol Metab 94:3058 DELETERIOUS possibly damaging UV 0 CYP17A1 V197D No phenotype recorded dbSNP entry rs61754273 TOLERATED benign UV 　 CYP17A1 W406R Steroid-17 alpha-hydroxylase deficiency Martin (2003) J Clin Endocrinol Metab 88:5739 DELETERIOUS probably damaging P 　 CYP17A1 Y201N 17-alpha-hydroxylase/17,20-lyase deficiency Taniyama (2005) J Clin Endocrinol Metab 90:2508 DELETERIOUS probably damaging N 31 CYP17A1 Y329D Steroid-17 alpha-hydroxylase deficiency Martin (2003) J Clin Endocrinol Metab 88:5739 DELETERIOUS possibly damaging UV 5 CYP17A1 Y64S 17-alpha-hydroxylase/17,20-lyase deficiency Imai (1993) J Biol Chem 268:19681 DELETERIOUS probably damaging UV 15 CYP19A1 C437Y Aromatase deficiency Ito (1993) Proc Natl Acad Sci U S A 90:11673 DELETERIOUS probably damaging P 0 CYP19A1 E210K PROBABLE PATHOGENIC 　 DELETERIOUS probably damaging UV 　 CYP19A1 F203L NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP19A1 G156D NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 CYP19A1 I336N NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 CYP19A1 I442V NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP19A1 I471V NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP19A1 L451P Aromatase deficiency Wang (2010) Hum Genet 127: DELETERIOUS probably damaging P 　 CYP19A1 M127R Aromatase deficiency Maffei (2007) Clin Endocrinol (Oxf) 67:218 DELETERIOUS probably damaging UV <10 CYP19A1 M21T NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging UV 　 CYP19A1 M318T NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP19A1 M364T Reduced activity Ma (2005) Cancer Res 65:11071 DELETERIOUS probably damaging UV 15 CYP19A1 M85I No phenotype recorded dbSNP entry rs143743147 TOLERATED benign N 　 CYP19A1 M85R Aromatase deficiency Belgorosky (2009) Horm Res 72:321 DELETERIOUS probably damaging UV 0 CYP19A1 N180S NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 CYP19A1 N411S Aromatase deficiency Hauri-Hohl (2011) Clin Endocrinol (Oxf) 75:39 DELETERIOUS possibly damaging N 50 CYP19A1 P207S NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 CYP19A1 P8L NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 CYP19A1 P8S NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging N 　 CYP19A1 R159L NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 CYP19A1 R193H NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP19A1 R264H No phenotype recorded dbSNP entry rs2304462 TOLERATED benign N 　 CYP19A1 R288C NO ASSOCIATED PHENOTYPE 　 TOLERATED probably damaging UV 　 CYP19A1 R365Q Aromatase deficiency Carani (1997) N Engl J Med 337:91 DELETERIOUS probably damaging P 0.4 CYP19A1 R375C Aromatase deficiency Morishima (1995) J Clin Endocrinol Metab 80:3689 DELETERIOUS probably damaging P 1.1 CYP19A1 R375H Aromatase deficiency Maffei (2007) Clin Endocrinol (Oxf) 67:218 DELETERIOUS probably damaging P <10 CYP19A1 R435C Aromatase deficiency Ito (1993) Proc Natl Acad Sci U S A 90:11673 DELETERIOUS probably damaging P 1.1 CYP19A1 T453I No phenotype recorded dbSNP entry rs141305220 DELETERIOUS benign N 　 CYP19A1 V370M Aromatase deficiency Ludwig (1998) J Pediatr Endocrinol Metab 11:657 DELETERIOUS probably damaging UV 　 CYP19A1 Y241N NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 CYP19A1 Y244H NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 CYP19A1 Y81C Aromatase deficiency Wang (2010) Hum Genet 127: DELETERIOUS probably damaging UV 　 CYP21A2 L199F 21-hydroxylase deficiency Niceta (2011) J Endocrinol Invest 34:847 DELETERIOUS benign N 　 CYP21A2 P387R 21-hydroxylase deficiency Vrzalová (2010) Int J Mol Med 26:595 DELETERIOUS probably damaging UV 　 CYP21A2 P460S 21-hydroxylase deficiency Vrzalová (2010) Int J Mol Med 26:595 DELETERIOUS probably damaging UV 　 CYP21A2 T169N 21-hydroxylase deficiency Vrzalová (2010) Int J Mol Med 26:595 DELETERIOUS probably damaging UV 　 CYP21A2 R370W 21-hydroxylase deficiency, intermediate form Tardy (2010) J Clin Endocrinol Metab 95:1288 DELETERIOUS probably damaging UV 45.8 CYP21A2 M284V 21-hydroxylase deficiency, non-classical Minutolo (2011) PLoS One 6:e15899 DELETERIOUS probably damaging UV 　 CYP21A2 R133C 21-hydroxylase deficiency, non-classical Minutolo (2011) PLoS One 6:e15899 DELETERIOUS probably damaging UV 　 CYP21A2 R150C 21-hydroxylase deficiency, non-classical Minutolo (2011) PLoS One 6:e15899 TOLERATED probably damaging UV 　 CYP21A2 E321K 21-hydroxylase deficiency, simple virilizing form Tardy (2010) J Clin Endocrinol Metab 95:1288 DELETERIOUS probably damaging P 4.6 CYP21A2 G293D 21-hydroxylase deficiency, with salt wasting Tardy (2010) J Clin Endocrinol Metab 95:1288 DELETERIOUS probably damaging P 0.5 CYP21A2 L143P 21-hydroxylase deficiency, with salt wasting Soardi (2008) J Clin Endocrinol Metab 93:2416 TOLERATED possibly damaging UV 0.4 CYP21A2 L168P 21-hydroxylase deficiency, with salt wasting Tardy (2010) J Clin Endocrinol Metab 95:1288 TOLERATED possibly damaging P 0.7 CYP21A2 R409L 21-hydroxylase deficiency, with salt wasting Yu (2011) Genet Test Mol Biomarkers 15:137 DELETERIOUS probably damaging P 　 CYP21A2 G57R 21-hydroxylase deficiency, without salt wasting Soardi (2008) J Clin Endocrinol Metab 93:2416 DELETERIOUS probably damaging P 0.7 CYP21A2 L108R 21-hydroxylase deficiency, without salt wasting Soardi (2008) J Clin Endocrinol Metab 93:2416 DELETERIOUS probably damaging P 0.4 CYP21A2 A266V Adrenal hyperplasia Bleicken (2009) Hum Mutat 30:E443 TOLERATED benign N 92 CYP21A2 A363V Adrenal hyperplasia Ohlsson (1999) Hum Mutat 13:482 TOLERATED probably damaging UV 0 CYP21A2 A392T Adrenal hyperplasia Robins (2007) J Mol Med 85:247 TOLERATED probably damaging UV 38.7 CYP21A2 A435V Adrenal hyperplasia Krone (2005) J Clin Endocrinol Metab 90:445 DELETERIOUS probably damaging UV 14 CYP21A2 C148R Adrenal hyperplasia Barbaro (2012) Clin Endocrinol (Oxf) 76:766 TOLERATED probably damaging UV 4 CYP21A2 C170R Adrenal hyperplasia Grischuk (2006) J Clin Endocrinol Metab 91:4976 TOLERATED probably damaging P 0.1 CYP21A2 D408N Adrenal hyperplasia Capoluongo (2008) Hum Genet 123:549 TOLERATED probably damaging UV 72.7 CYP21A2 E352K Adrenal hyperplasia Krone (2005) J Mol Med 83:561 DELETERIOUS probably damaging P 1.1 CYP21A2 E381D Adrenal hyperplasia Kirby-Keyser (1997) Hum Mutat 9:181 DELETERIOUS benign UV 　 CYP21A2 E432K Adrenal hyperplasia Dain (2006) Hum Genet 119:363 DELETERIOUS probably damaging P 　 CYP21A2 F405S Adrenal hyperplasia Baradaran-Heravi (2007) Clin Endocrinol (Oxf) 67:335 DELETERIOUS probably damaging P 　 CYP21A2 G179A Adrenal hyperplasia Lobato (1999) Hum Hered 49:169 DELETERIOUS probably damaging P 　 CYP21A2 G179R Adrenal hyperplasia Grischuk (2006) J Clin Endocrinol Metab 91:4976 DELETERIOUS probably damaging P 0.4 CYP21A2 G292C Adrenal hyperplasia Lobato (1999) Hum Hered 49:169 DELETERIOUS probably damaging P 　 CYP21A2 G292R Adrenal hyperplasia Stikkelbroek (2003) J Clin Endocrinol Metab 88:3852 DELETERIOUS probably damaging P <1 CYP21A2 G292S Adrenal hyperplasia Wedell (1992) Proc Natl Acad Sci U S A 89:7232 DELETERIOUS probably damaging UV 　 CYP21A2 G425S Adrenal hyperplasia Billerbeck (1999) J Clin Endocrinol Metab 84:2870 DELETERIOUS probably damaging P 1.6 CYP21A2 G65E Adrenal hyperplasia Ohlsson (1999) Hum Mutat 13:482 DELETERIOUS probably damaging P 0 CYP21A2 G91V Adrenal hyperplasia Lobato (1999) Hum Hered 49:169 DELETERIOUS probably damaging P 　 CYP21A2 H120R Adrenal hyperplasia Capoluongo (2008) Hum Genet 123:550 DELETERIOUS probably damaging UV 　 CYP21A2 H283N Adrenal hyperplasia Concolino (2011) Metabolism epub:epub DELETERIOUS probably damaging UV 　 CYP21A2 H366Y Adrenal hyperplasia Zeng (2004) Mol Genet Metab 82:38 DELETERIOUS probably damaging P 　 CYP21A2 H39L Adrenal hyperplasia Tardy (2006) Hum Genet 119:359 TOLERATED probably damaging UV 　 CYP21A2 I172N Adrenal hyperplasia Barbaro (2006) J Mol Med 84:521 DELETERIOUS probably damaging UV 0.7 CYP21A2 I173N Adrenal hyperplasia Amor (1988) Proc Natl Acad Sci U S A 85:1600 DELETERIOUS probably damaging P 2.3 CYP21A2 I195N Adrenal hyperplasia Capoluongo (2008) Hum Genet 123:550 DELETERIOUS probably damaging UV 　 CYP21A2 I78T Adrenal hyperplasia Krone (2005) J Clin Endocrinol Metab 90:445 TOLERATED probably damaging UV 3 CYP21A2 K122Q Adrenal hyperplasia Riepe (2008) J Clin Endocrinol Metab 93:2891 DELETERIOUS probably damaging UV 19.5 CYP21A2 L167P Adrenal hyperplasia Robins (2007) J Mol Med 85:247 DELETERIOUS possibly damaging P 0.3 CYP21A2 L262P Adrenal hyperplasia Loke (2001) Horm Res 55:179 DELETERIOUS probably damaging P 　 CYP21A2 L301F Adrenal hyperplasia Krone (2000) J Clin Endocrinol Metab 85:1059 TOLERATED probably damaging P 　 CYP21A2 L309F Adrenal hyperplasia Barbaro (2012) Clin Endocrinol (Oxf) 76:766 DELETERIOUS probably damaging UV 0.2 CYP21A2 L318M Adrenal hyperplasia Deneux (2001) J Clin Endocrinol Metab 86:207 DELETERIOUS possibly damaging UV 　 CYP21A2 L318V Adrenal hyperplasia Bojunga (2005) Hum Genet 117:558 TOLERATED benign N 　 CYP21A2 L364W Adrenal hyperplasia Levo (2001) Prenat Diagn 21:885 DELETERIOUS probably damaging P 　 CYP21A2 L447P Adrenal hyperplasia Barbaro (2006) J Mol Med 84:521 DELETERIOUS probably damaging P 0.5 CYP21A2 N388K Adrenal hyperplasia Wasniewska (2009) J Endocrinol Invest 32:633 DELETERIOUS probably damaging P 　 CYP21A2 P106L Adrenal hyperplasia Wedell (1992) Proc Natl Acad Sci U S A 89:7232 TOLERATED benign N 　 CYP21A2 P31Q Adrenal hyperplasia Lajic (1999) Biochem Biophys Res Commun 257:384 DELETERIOUS possibly damaging P 0.2 CYP21A2 P433L Adrenal hyperplasia Carvalho (2010) Hum Genet 127:482 TOLERATED possibly damaging N 　 CYP21A2 P454S Adrenal hyperplasia Owerbach (1992) Mol Endocrinol 6:1211 DELETERIOUS possibly damaging UV 38 CYP21A2 P460H Adrenal hyperplasia Wang (2007) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:681 DELETERIOUS probably damaging UV 　 CYP21A2 P464L Adrenal hyperplasia Loidi (2006) Clin Endocrinol (Oxf) 64:330 DELETERIOUS probably damaging N 　 CYP21A2 P483S Adrenal hyperplasia Barbaro (2004) J Clin Endocrinol Metab 89:2402 DELETERIOUS probably damaging UV 72 CYP21A2 Q482P Adrenal hyperplasia Di Pasquale (2005) J Endocrinol Invest 28:1038 TOLERATED probably damaging N 　 CYP21A2 R125H Adrenal hyperplasia Usui (2004) Horm Res 61:126 TOLERATED possibly damaging UV 　 CYP21A2 R234G Adrenal hyperplasia Falhammar (2008) J Endocrinol Invest 31:176 DELETERIOUS probably damaging UV 　 CYP21A2 R340H Adrenal hyperplasia Helmberg (1992) Mol Endocrinol 6:1318 DELETERIOUS probably damaging P 50 CYP21A2 R342P Adrenal hyperplasia Balsamo (2003) J Clin Endocrinol Metab 88:5680 TOLERATED probably damaging P 0.7 CYP21A2 R342W Adrenal hyperplasia Lajic (1997) Hum Genet 99:704 DELETERIOUS probably damaging P 　 CYP21A2 R355C Adrenal hyperplasia Krone (2000) J Clin Endocrinol Metab 85:1059 DELETERIOUS probably damaging P 　 CYP21A2 R355H Adrenal hyperplasia Lobato (1999) Hum Hered 49:169 DELETERIOUS possibly damaging P 　 CYP21A2 R357P Adrenal hyperplasia Lajic (1997) Hum Genet 99:704 DELETERIOUS probably damaging P 0.15 CYP21A2 R357Q Adrenal hyperplasia Levo (1997) Hum Genet 99:488 TOLERATED probably damaging P 0.7 CYP21A2 R357W Adrenal hyperplasia Chiou (1990) J Biol Chem 265:3549 DELETERIOUS probably damaging P 2 CYP21A2 R367H Adrenal hyperplasia Ghizzoni (2011) Eur J Endocrinol 165:307 TOLERATED probably damaging N 　 CYP21A2 R409C Adrenal hyperplasia Billerbeck (2002) J Clin Endocrinol Metab 87:4314 DELETERIOUS possibly damaging P 1.3 CYP21A2 R409H Adrenal hyperplasia Finkielstain (2011) J Clin Endocrinol Metab 96:E161 DELETERIOUS probably damaging UV 　 CYP21A2 R427C Adrenal hyperplasia Grischuk (2006) J Clin Endocrinol Metab 91:4976 DELETERIOUS probably damaging P 0 CYP21A2 R427H Adrenal hyperplasia Baumgartner-Parzer (2001) J Clin Endocrinol Metab 86:4771 DELETERIOUS probably damaging P 0.5 CYP21A2 R427P Adrenal hyperplasia Finkielstain (2011) J Clin Endocrinol Metab 96:E161 DELETERIOUS probably damaging P 　 CYP21A2 R436C Adrenal hyperplasia Deneux (2001) J Clin Endocrinol Metab 86:207 DELETERIOUS probably damaging P 　 CYP21A2 R480L Adrenal hyperplasia Zeng (2004) Mol Genet Metab 82:38 TOLERATED possibly damaging P 76 CYP21A2 R484P Adrenal hyperplasia Wedell (1993) Hum Genet 91:236 DELETERIOUS probably damaging P 　 CYP21A2 R484Q Adrenal hyperplasia Stikkelbroek (2003) J Clin Endocrinol Metab 88:3852 DELETERIOUS probably damaging P 1.1 CYP21A2 R484W Adrenal hyperplasia Kharrat (2004) J Clin Endocrinol Metab 89:368 DELETERIOUS probably damaging P 　 CYP21A2 S269T Adrenal hyperplasia Asanuma (1999) J Hum Genet 44:312 TOLERATED benign N 　 CYP21A2 S302Y Adrenal hyperplasia Stikkelbroek (2003) J Clin Endocrinol Metab 88:3852 DELETERIOUS probably damaging UV 　 CYP21A2 T296N Adrenal hyperplasia Barbaro (2012) Clin Endocrinol (Oxf) 76:766 DELETERIOUS probably damaging P 5 CYP21A2 T451P Adrenal hyperplasia Baradaran-Heravi (2007) Clin Endocrinol (Oxf) 67:335 DELETERIOUS probably damaging N 　 CYP21A2 V140E Adrenal hyperplasia Barbaro (2012) Clin Endocrinol (Oxf) 76:766 DELETERIOUS probably damaging UV <1 CYP21A2 V212L Adrenal hyperplasia Speiser (1988) N Engl J Med 319:19 DELETERIOUS benign N 　 CYP21A2 V282G Adrenal hyperplasia Krone (2000) J Clin Endocrinol Metab 85:1059 DELETERIOUS probably damaging UV 　 CYP21A2 V282L Adrenal hyperplasia Barbat (1995) Hum Mutat 5:126 TOLERATED possibly damaging UV 30 CYP21A2 W303R Adrenal hyperplasia Grischuk (2006) J Clin Endocrinol Metab 91:4976 DELETERIOUS probably damaging UV 0.1 CYP21A2 Y192H Adrenal hyperplasia Concolino (2011) Metabolism epub:epub TOLERATED benign N 　 CYP21A2 Y60N Adrenal hyperplasia Tardy (2007) Hum Genet 121:292 DELETERIOUS probably damaging UV 　 CYP21A2 G376S Hyperandrogenism Lajic (2002) J Clin Endocrinol Metab 87:2824 TOLERATED probably damaging P 1.6 CYP21A2 V305M Hyperandrogenism Lajic (2002) J Clin Endocrinol Metab 87:2824 DELETERIOUS possibly damaging N 46 CYP21A2 D184E no associated clinical phenotype 　 TOLERATED benign N 　 CYP21A2 D323H no associated clinical phenotype 　 DELETERIOUS probably damaging P 　 CYP21A2 E162G no associated clinical phenotype 　 TOLERATED benign N 　 CYP21A2 E295K no associated clinical phenotype 　 DELETERIOUS probably damaging P 　 CYP21A2 G252S no associated clinical phenotype 　 TOLERATED benign N 　 CYP21A2 I237M no associated clinical phenotype 　 TOLERATED benign N 　 CYP21A2 M240K no associated clinical phenotype 　 TOLERATED benign N 95-98 CYP21A2 P268L no associated clinical phenotype 　 TOLERATED benign N 　 CYP21A2 R103K no associated clinical phenotype 　 TOLERATED benign N 　 CYP21A2 S274Y no associated clinical phenotype 　 DELETERIOUS benign UV 　 CYP21A2 V212M no associated clinical phenotype 　 TOLERATED benign N 　 CYP21A2 V238E no associated clinical phenotype 　 TOLERATED probably damaging UV 0-0.1 CYP21A2 V238M no associated clinical phenotype 　 DELETERIOUS possibly damaging N 　 CYP21A2 D323G Non-classic 21-hydroxylase deficiency Loidi (2006) Clin Endocrinol (Oxf) 64:330 DELETERIOUS probably damaging UV 18 CYP21A2 H63L Non-classic 21-hydroxylase deficiency Menassa (2008) J Clin Endocrinol Metab 93:1901 TOLERATED probably damaging UV 45 CYP21A2 I231T Non-classic 21-hydroxylase deficiency Tardy (2010) J Clin Endocrinol Metab 95:1288 DELETERIOUS benign N 63.1 CYP21A2 L354R Non-classic 21-hydroxylase deficiency Abid (2008) Clin Chem Lab Med 46:1707 DELETERIOUS probably damaging P 　 CYP21A2 M284L Non-classic 21-hydroxylase deficiency Ezquieta (2002) Acta Paediatr 91:892 DELETERIOUS probably damaging UV 　 CYP21A2 P31L Non-classic 21-hydroxylase deficiency Tusie-Luna (1991) Mol Endocrinol 5:685 TOLERATED benign UV 60 CYP21A2 R225W Non-classic 21-hydroxylase deficiency Concolino (2007) Hum Genet 122:559 TOLERATED benign N 51.9 CYP21A2 R234K Non-classic 21-hydroxylase deficiency Tardy (2010) J Clin Endocrinol Metab 95:1288 DELETERIOUS probably damaging UV 15 CYP21A2 W303S Non-classic 21-hydroxylase deficiency Loidi (2006) Clin Endocrinol (Oxf) 64:330 DELETERIOUS probably damaging UV 3 CYP21A2 Y48C Non-classic 21-hydroxylase deficiency Tardy (2007) Hum Genet 121:293 TOLERATED probably damaging N 　 CYP21A2 M151R Premature pubarche Ghizzoni (2011) Eur J Endocrinol 165:307 DELETERIOUS probably damaging UV 　 DHCR7 A195T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign UV 　 DHCR7 A247V Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 TOLERATED benign UV 5 DHCR7 A24S No phenotype recorded dbSNP entry rs146867923 TOLERATED benign N 　 DHCR7 A385G NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 DHCR7 A452T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 DHCR7 A50D Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 DELETERIOUS possibly damaging P 　 DHCR7 A50V Smith-Lemli-Opitz syndrome Quélin (2012) Eur J Med Genet 55:81 TOLERATED benign N 　 DHCR7 A67T No phenotype recorded dbSNP entry rs143999854 DELETERIOUS benign N 　 DHCR7 A97T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 DHCR7 C183Y Smith-Lemli-Opitz syndrome Jira (2001) Ann Hum Genet 65:229 DELETERIOUS probably damaging UV 　 DHCR7 C311G Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 TOLERATED probably damaging UV 　 DHCR7 C311Y Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 TOLERATED possibly damaging UV 　 DHCR7 C380R Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 5 DHCR7 C380S Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 TOLERATED probably damaging UV 　 DHCR7 C380Y Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 40 DHCR7 C444Y Smith-Lemli-Opitz syndrome Krakowiak (2000) Am J Med Genet 94:214 DELETERIOUS probably damaging UV 　 DHCR7 C451R Smith-Lemli-Opitz syndrome Kalb (2012) Clin Genet 81:598 DELETERIOUS probably damaging P 　 DHCR7 D175H Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS probably damaging UV 　 DHCR7 D386E No phenotype recorded dbSNP entry rs760241 DELETERIOUS possibly damaging N 　 DHCR7 D62V Smith-Lemli-Opitz syndrome Waterham (2000) Biochim Biophys Acta 1529:340 TOLERATED benign N 　 DHCR7 E224K Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 DELETERIOUS possibly damaging P 　 DHCR7 E288K Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2001) Hum Mutat 17:172 DELETERIOUS probably damaging P 　 DHCR7 E448K Smith-Lemli-Opitz syndrome De Brasi (1999) Eur J Hum Genet 7:937 DELETERIOUS probably damaging P 5 DHCR7 E448Q Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 F168I Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 TOLERATED possibly damaging UV 　 DHCR7 F174S Smith-Lemli-Opitz syndrome Cardoso (2005) Mol Genet Metab 85:228 TOLERATED benign N 　 DHCR7 F235S Smith-Lemli-Opitz syndrome Waye (2005) Hum Mutat 26:59 DELETERIOUS probably damaging P 　 DHCR7 F255L Smith-Lemli-Opitz syndrome Jira (2001) Ann Hum Genet 65:229 TOLERATED possibly damaging UV 　 DHCR7 F284L Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS probably damaging UV 　 DHCR7 F302L Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS probably damaging UV 　 DHCR7 F475S Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 DELETERIOUS probably damaging UV 　 DHCR7 G138V Smith-Lemli-Opitz syndrome Waye (2005) Hum Mutat 26:59 DELETERIOUS probably damaging P 　 DHCR7 G147D Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 G244R Smith-Lemli-Opitz syndrome Waterham (1998) Am J Hum Genet 63:329 DELETERIOUS probably damaging P 　 DHCR7 G303R Smith-Lemli-Opitz syndrome Matsumoto (2005) J Hum Genet 50:353 DELETERIOUS probably damaging P 　 DHCR7 G307D Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2001) Hum Mutat 17:172 DELETERIOUS possibly damaging P 　 DHCR7 G309S Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2001) Eur J Hum Genet 9:45 DELETERIOUS probably damaging P 　 DHCR7 G30A Smith-Lemli-Opitz syndrome Blahakova (2007) J Inherit Metab Dis 30:964 DELETERIOUS probably damaging N 　 DHCR7 G322R Smith-Lemli-Opitz syndrome Nowaczyk (2012) Am J Med Genet A 158A:1020 DELETERIOUS possibly damaging P 　 DHCR7 G344D Holoprosencephaly Shim (2004) Biochem Biophys Res Commun 315:219 DELETERIOUS probably damaging P 50 DHCR7 G344R Smith-Lemli-Opitz syndrome Waye (2005) Hum Mutat 26:59 DELETERIOUS probably damaging P 　 DHCR7 G347S Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 TOLERATED possibly damaging P 　 DHCR7 G366V Smith-Lemli-Opitz syndrome Szabó (2010) Eur J Pediatr 169:121 DELETERIOUS probably damaging P 　 DHCR7 G410R Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 G410S Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 DELETERIOUS probably damaging P 4 DHCR7 G425S No phenotype recorded dbSNP entry rs760242 TOLERATED benign UV 　 DHCR7 G70C Smith-Lemli-Opitz syndrome Quélin (2012) Eur J Med Genet 55:81 DELETERIOUS benign N 　 DHCR7 G70S No phenotype recorded dbSNP entry rs144512551 TOLERATED benign N 　 DHCR7 H119L Smith-Lemli-Opitz syndrome Waterham (1998) Am J Hum Genet 63:329 DELETERIOUS probably damaging UV 　 DHCR7 H301R Smith-Lemli-Opitz syndrome Cardoso (2005) Mol Genet Metab 85:228 DELETERIOUS probably damaging UV 　 DHCR7 H405Y Smith-Lemli-Opitz syndrome Waye (2005) Hum Mutat 26:59 DELETERIOUS probably damaging P 　 DHCR7 H426P Smith-Lemli-Opitz syndrome Waye (2005) Hum Mutat 26:59 DELETERIOUS probably damaging P 　 DHCR7 I129V NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 DHCR7 I145L Smith-Lemli-Opitz syndrome Waye (2005) Hum Mutat 26:59 DELETERIOUS benign N 　 DHCR7 I178F Smith-Lemli-Opitz syndrome Nowaczyk (2001) Clin Invest Med 24:311 TOLERATED benign N 　 DHCR7 I178N Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2001) Eur J Hum Genet 9:45 TOLERATED benign UV 　 DHCR7 I251M Smith-Lemli-Opitz syndrome Waterham (2000) Biochim Biophys Acta 1529:340 TOLERATED benign N 　 DHCR7 I251N Smith-Lemli-Opitz syndrome Romano (2005) Mol Diagn 9:201 DELETERIOUS probably damaging UV 　 DHCR7 I297T Smith-Lemli-Opitz syndrome Waye (2005) Hum Mutat 26:59 DELETERIOUS probably damaging P 　 DHCR7 I44T No phenotype recorded dbSNP entry rs142897396 DELETERIOUS benign N 　 DHCR7 I58V PATHOGENIC 　 TOLERATED benign N 　 DHCR7 I9F No phenotype recorded dbSNP entry rs115595829 TOLERATED benign N 　 DHCR7 K198E Smith-Lemli-Opitz syndrome Jira (2001) Ann Hum Genet 65:229 DELETERIOUS probably damaging P 　 DHCR7 L109P Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS possibly damaging P 　 DHCR7 L148R Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS probably damaging P 　 DHCR7 L157P Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 DELETERIOUS probably damaging P 　 DHCR7 L317R Smith-Lemli-Opitz syndrome Scalco (2005) Am J Med Genet 136A:278 DELETERIOUS possibly damaging P 　 DHCR7 L341P Smith-Lemli-Opitz syndrome Krakowiak (2000) Am J Med Genet 94:214 DELETERIOUS probably damaging P 　 DHCR7 L360P Smith-Lemli-Opitz syndrome Ciara (2004) Clin Genet 66:517 DELETERIOUS possibly damaging P 　 DHCR7 L470Q Smith-Lemli-Opitz syndrome Ginat (2004) Mol Genet Metab 83:175 DELETERIOUS probably damaging UV 　 DHCR7 L68P Smith-Lemli-Opitz syndrome Ciara (2004) Clin Genet 66:517 DELETERIOUS probably damaging P 　 DHCR7 L99P Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 DELETERIOUS benign UV <5 DHCR7 M196T NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging UV 　 DHCR7 M1I Smith-Lemli-Opitz syndrome Waterham (2000) Biochim Biophys Acta 1529:340 DELETERIOUS probably damaging UV 　 DHCR7 M1V Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 DELETERIOUS possibly damaging UV 　 DHCR7 M270V Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2001) Eur J Hum Genet 9:45 DELETERIOUS possibly damaging UV 　 DHCR7 M59R Smith-Lemli-Opitz syndrome Waterham (2000) Biochim Biophys Acta 1529:340 DELETERIOUS probably damaging P 　 DHCR7 N146K Smith-Lemli-Opitz syndrome Jezela-Stanek (2010) J Inherit Metab Dis epub:epub DELETERIOUS probably damaging P 　 DHCR7 N240S No phenotype recorded dbSNP entry rs148609143 DELETERIOUS probably damaging UV 　 DHCR7 N252S Smith-Lemli-Opitz syndrome Waterham (2000) Biochim Biophys Acta 1529:340 DELETERIOUS probably damaging N 　 DHCR7 N274K Smith-Lemli-Opitz syndrome Goldenberg (2003) Arch Pediatr 10:4 TOLERATED possibly damaging UV 　 DHCR7 N287K Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS probably damaging UV 　 DHCR7 N355D Smith-Lemli-Opitz syndrome Waterham (2000) Biochim Biophys Acta 1529:340 DELETERIOUS possibly damaging UV 　 DHCR7 N407Y Smith-Lemli-Opitz syndrome De Brasi (1999) Eur J Hum Genet 7:937 DELETERIOUS probably damaging P 　 DHCR7 P10A No phenotype recorded dbSNP entry rs139166382 TOLERATED benign N 　 DHCR7 P170R NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 DHCR7 P179L Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS probably damaging N 　 DHCR7 P227S Smith-Lemli-Opitz syndrome Ko (2010) J Korean Med Sci 25:159 DELETERIOUS probably damaging UV 　 DHCR7 P243R Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS possibly damaging P 　 DHCR7 P329L Smith-Lemli-Opitz syndrome Patrono (2000) Am J Med Genet 91:138 DELETERIOUS probably damaging UV 　 DHCR7 P335R NO ASSOCIATED PHENOTYPE 　 TOLERATED benign UV 　 DHCR7 P467L Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2001) Hum Mutat 17:172 DELETERIOUS probably damaging UV 　 DHCR7 P51H Smith-Lemli-Opitz syndrome Anstey (2005) Br J Dermatol 153:774 DELETERIOUS probably damaging P 　 DHCR7 P51S Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 DELETERIOUS probably damaging UV 　 DHCR7 Q107H Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS possibly damaging P 　 DHCR7 Q63H No phenotype recorded dbSNP entry rs1044482 TOLERATED benign N 　 DHCR7 R228W Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 DELETERIOUS probably damaging P 　 DHCR7 R242C Smith-Lemli-Opitz syndrome Neklason (1999) Am J Med Genet 85:517 DELETERIOUS probably damaging P <3 DHCR7 R242H Smith-Lemli-Opitz syndrome Krakowiak (2000) Am J Med Genet 94:214 DELETERIOUS probably damaging P 　 DHCR7 R31C Smith-Lemli-Opitz syndrome Nowaczyk (2012) Am J Med Genet A 158A:1020 DELETERIOUS probably damaging UV 　 DHCR7 R352Q Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 R352W Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 DELETERIOUS probably damaging P <3 DHCR7 R362C Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 R362H NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 DHCR7 R404C Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 DELETERIOUS probably damaging P 2 DHCR7 R404S Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 R443C Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P <3 DHCR7 R443H Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2001) Eur J Hum Genet 9:45 DELETERIOUS probably damaging P 　 DHCR7 R443P NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 DHCR7 R446Q Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 R446W NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 DHCR7 R450L Smith-Lemli-Opitz syndrome Neklason (1999) Am J Med Genet 85:517 DELETERIOUS probably damaging UV 90 DHCR7 R469C NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 DHCR7 R469P Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS probably damaging P 　 DHCR7 S113C Smith-Lemli-Opitz syndrome Waye (2005) Hum Mutat 26:59 TOLERATED benign N 　 DHCR7 S169L Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 TOLERATED benign N 　 DHCR7 S192F Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 DELETERIOUS possibly damaging UV 　 DHCR7 S254A Smith-Lemli-Opitz syndrome Goldenberg (2003) Arch Pediatr 10:4 DELETERIOUS possibly damaging N 　 DHCR7 S397L Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 S5L NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 DHCR7 T154M Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P <5 DHCR7 T154R Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2001) Eur J Hum Genet 9:45 DELETERIOUS probably damaging P 　 DHCR7 T289I Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 TOLERATED benign UV 　 DHCR7 T319A Smith-Lemli-Opitz syndrome Nowaczyk (2001) Clin Invest Med 24:311 DELETERIOUS probably damaging UV 　 DHCR7 T319M Smith-Lemli-Opitz syndrome Waterham (2000) Biochim Biophys Acta 1529:340 DELETERIOUS probably damaging P 　 DHCR7 T93M Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 DELETERIOUS possibly damaging UV <5 DHCR7 V126I NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 DHCR7 V273G Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 DELETERIOUS possibly damaging UV 　 DHCR7 V281M Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 V326L Smith-Lemli-Opitz syndrome Fitzky (1998) Proc Natl Acad Sci U S A 95:8181 TOLERATED possibly damaging N <10 DHCR7 V330M NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 DHCR7 V338M No phenotype recorded dbSNP entry rs72954276 TOLERATED benign N 　 DHCR7 V340I NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 DHCR7 V353A Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 TOLERATED benign N 　 DHCR7 V466A Smith-Lemli-Opitz syndrome Scalco (2005) Am J Med Genet 136A:278 DELETERIOUS probably damaging P 　 DHCR7 V466M Smith-Lemli-Opitz syndrome Bianconi (2011) Am J Med Genet A 155:2732 DELETERIOUS probably damaging P 　 DHCR7 W151S No phenotype recorded dbSNP entry rs11555217 DELETERIOUS probably damaging UV 　 DHCR7 W158C Smith-Lemli-Opitz syndrome Waye (2007) Prenat Diagn 27:638 DELETERIOUS probably damaging UV 　 DHCR7 W177R Smith-Lemli-Opitz syndrome Krakowiak (2000) Am J Med Genet 94:214 TOLERATED probably damaging UV 　 DHCR7 W182C Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 TOLERATED probably damaging UV <5 DHCR7 W182L Smith-Lemli-Opitz syndrome Jira (2001) Ann Hum Genet 65:229 TOLERATED probably damaging UV 　 DHCR7 W248C Smith-Lemli-Opitz syndrome Waterham (1998) Am J Hum Genet 63:329 DELETERIOUS probably damaging P 　 DHCR7 W248R Smith-Lemli-Opitz syndrome Waye (2002) J Med Genet 39:e31 DELETERIOUS probably damaging P 　 DHCR7 W400G NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 DHCR7 Y219D Smith-Lemli-Opitz syndrome Jezela-Stanek (2008) Eur J Med Genet 51:124 DELETERIOUS probably damaging P 　 DHCR7 Y280C Smith-Lemli-Opitz syndrome Nowaczyk (2001) Clin Genet 59:375 DELETERIOUS probably damaging UV 　 DHCR7 Y318N Smith-Lemli-Opitz syndrome Krakowiak (2000) Am J Med Genet 94:214 DELETERIOUS probably damaging P 　 DHCR7 Y324H Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 Y408H Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2000) Am J Hum Genet 66:402 DELETERIOUS probably damaging P 　 DHCR7 Y432C Smith-Lemli-Opitz syndrome Witsch-Baumgartner (2005) Hum Mutat 25:412 DELETERIOUS probably damaging P 　 DHCR7 Y462H Smith-Lemli-Opitz syndrome Yu (2000) Hum Mol Genet 9:1385 DELETERIOUS probably damaging P 　 HSD3B2 A10E 3 beta-hydroxysteroid dehydrogenase deficiency Alos (2000) J Clin Endocrinol Metab 85:1968 DELETERIOUS probably damaging P 0 HSD3B2 A10V 3 beta-hydroxysteroid dehydrogenase deficiency Moisan (1999) J Clin Endocrinol Metab 84:4410 DELETERIOUS probably damaging UV 85 HSD3B2 A164V NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD3B2 A167V 3 beta-hydroxysteroid dehydrogenase deficiency Nayak (1998) Mol Genet Metab 64:184 TOLERATED benign N 100 HSD3B2 A245P Adrenal hyperplasia Simard (1993) Mol Endocrinol 7:716 TOLERATED benign UV 55 HSD3B2 A338T NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 HSD3B2 A82P 3 beta-hydroxysteroid dehydrogenase deficiency Rabbani (2012) Gene 503:215 DELETERIOUS probably damaging P 　 HSD3B2 A82T Pseudohermaphroditism Mendonca (1994) J Mol Endocrinol 12:119 DELETERIOUS probably damaging P 25 HSD3B2 D74N No phenotype recorded dbSNP entry rs4986954 DELETERIOUS benign UV 　 HSD3B2 E142K Adrenal hyperplasia Simard (1993) Mol Endocrinol 7:716 DELETERIOUS probably damaging UV 0 HSD3B2 E41V NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 HSD3B2 E44D No phenotype recorded dbSNP entry rs111333222 TOLERATED benign N 　 HSD3B2 E94Q No phenotype recorded dbSNP entry rs6211 TOLERATED benign N 　 HSD3B2 G129R Adrenal hyperplasia Rheaume (1994) J Clin Endocrinol Metab 79:1012 DELETERIOUS possibly damaging P 30 HSD3B2 G140V NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign UV 　 HSD3B2 G15D 3 beta-hydroxysteroid dehydrogenase deficiency Rheaume (1995) Biochemistry 34:2893 DELETERIOUS probably damaging P 0 HSD3B2 G294V 3 beta-hydroxysteroid dehydrogenase deficiency Moisan (1999) J Clin Endocrinol Metab 84:4410 DELETERIOUS benign UV 60 HSD3B2 G2V No phenotype recorded dbSNP entry rs116449508 DELETERIOUS probably damaging UV 　 HSD3B2 G60E NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging P 　 HSD3B2 I270T No phenotype recorded dbSNP entry rs75429891 TOLERATED benign N 　 HSD3B2 K216E 3 beta-hydroxysteroid dehydrogenase deficiency Moisan (1999) J Clin Endocrinol Metab 84:4410 TOLERATED benign N 90 HSD3B2 L108W Pseudohermaphroditism Sanchez (1994) Hum Mol Genet 3:1639 DELETERIOUS probably damaging UV 0 HSD3B2 L173R Pseudohermaphroditism Russell (1994) J Mol Endocrinol 12:225 DELETERIOUS probably damaging P 90 HSD3B2 L205P Adrenal hyperplasia Katsumata (1995) Hum Mol Genet 4:745 DELETERIOUS probably damaging P 3 HSD3B2 L236S 3 beta-hydroxysteroid dehydrogenase deficiency Nayak (1998) Mol Genet Metab 64:184 TOLERATED benign N 100 HSD3B2 L68M NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 HSD3B2 L6F 3 beta-hydroxysteroid dehydrogenase deficiency Zhang (2000) J Clin Endocrinol Metab 85:1678 DELETERIOUS probably damaging N 80 HSD3B2 N100S Pseudohermaphroditism Mebarki (1995) J Clin Endocrinol Metab 80:2127 DELETERIOUS probably damaging P 8 HSD3B2 P155L 3 beta-hydroxysteroid dehydrogenase deficiency Moisan (1999) J Clin Endocrinol Metab 84:4410 DELETERIOUS probably damaging N 3 HSD3B2 P186L Pseudohermaphroditism Sanchez (1994) Hum Mol Genet 3:1639 TOLERATED probably damaging UV 0 HSD3B2 P222Q 3 beta-hydroxysteroid dehydrogenase deficiency Moisan (1999) J Clin Endocrinol Metab 84:4410 DELETERIOUS possibly damaging UV 0 HSD3B2 P222T 3 beta-hydroxysteroid dehydrogenase deficiency Pang (2002) J Clin Endocrinol Metab 87:2556 DELETERIOUS probably damaging N 0 HSD3B2 P341L 3 beta-hydroxysteroid dehydrogenase deficiency Welzel (2008) J Clin Endocrinol Metab 93:1418 DELETERIOUS probably damaging UV 7 HSD3B2 R20C NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD3B2 R316C NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging UV 　 HSD3B2 S213G 3 beta-hydroxysteroid dehydrogenase deficiency Moisan (1999) J Clin Endocrinol Metab 84:4410 TOLERATED benign N 100 HSD3B2 S213T Idiopathic hypospadias Codner (2004) J Clin Endocrinol Metab 89:957 TOLERATED benign N 0 HSD3B2 S284R Idiopathic hypospadias Codner (2004) J Clin Endocrinol Metab 89:957 TOLERATED benign N 25 HSD3B2 T259M 3 beta-hydroxysteroid dehydrogenase deficiency Moisan (1999) J Clin Endocrinol Metab 84:4410 DELETERIOUS probably damaging UV 8 HSD3B2 T259R Adrenal hyperplasia Tajina (1995) Hum Mol Genet 4:969 DELETERIOUS probably damaging UV 0 HSD3B2 V19A No phenotype recorded dbSNP entry rs115344376 DELETERIOUS possibly damaging UV 　 HSD3B2 V19I NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD3B2 V248N PROBABLE PATHOGENIC 　 DELETERIOUS possibly damaging N 　 HSD3B2 V353M NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD3B2 V78I NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD3B2 Y224C NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 HSD3B2 Y253N Adrenal hyperplasia Simard (1993) Mol Endocrinol 7:716 DELETERIOUS probably damaging UV 0 HSD3B2 Y254D Adrenal hyperplasia Sanchez (1994) J Clin Endocrinol Metab 78:561 DELETERIOUS probably damaging P 0 HSD11B2 A221V Apparent mineralocorticoid excess Quinkler (2004) Mol Cell Endocrinol 217:143 DELETERIOUS possibly damaging UV 　 HSD11B2 A237V Apparent mineralocorticoid excess Nunez (1999) Hypertension 34:638 DELETERIOUS probably damaging P <5 HSD11B2 A328V Apparent mineralocorticoid excess Li (1997) J Hypertens 15:1397 DELETERIOUS probably damaging UV <5 HSD11B2 A389T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD11B2 D144V Hypertension, hypokalemic Morineau (2006) J Am Soc Nephrol 17:3176 DELETERIOUS probably damaging N 　 HSD11B2 D223N Apparent mineralocorticoid excess Carvajal (2003) J Clin Endocrinol Metab 88:2501 TOLERATED benign N 6 HSD11B2 D244N Apparent mineralocorticoid excess Dave-Sharma (1998) J Clin Endocrinol Metab 83:2244 TOLERATED benign UV 　 HSD11B2 D317N NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 HSD11B2 D323V No phenotype recorded dbSNP entry rs140101035 TOLERATED possibly damaging N 　 HSD11B2 D392G NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging UV 　 HSD11B2 F185S Hypertension, hypokalemic Morineau (2006) J Am Soc Nephrol 17:3176 TOLERATED benign N 　 HSD11B2 G120S NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 HSD11B2 G160S NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 HSD11B2 G382D NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 HSD11B2 I350T NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 HSD11B2 L179R Apparent mineralocorticoid excess Nunez (1999) Hypertension 34:638 DELETERIOUS probably damaging UV <5 HSD11B2 L250R Apparent mineralocorticoid excess Dave-Sharma (1998) J Clin Endocrinol Metab 83:2244 DELETERIOUS probably damaging P 　 HSD11B2 L376P Apparent mineralocorticoid excess Lavery (2003) Hypertension 42:123 DELETERIOUS probably damaging UV 　 HSD11B2 L395P No phenotype recorded dbSNP entry rs45619232 TOLERATED benign N 　 HSD11B2 N171S No phenotype recorded dbSNP entry rs138853656 TOLERATED benign N 　 HSD11B2 P227L Hypertension Wilson (1998) Proc Natl Acad Sci U S A 95:10200 DELETERIOUS probably damaging P 16 HSD11B2 R147H No phenotype recorded dbSNP entry rs13306425 TOLERATED benign N 　 HSD11B2 R147S No phenotype recorded dbSNP entry rs72650118 TOLERATED benign N 　 HSD11B2 R186C Apparent mineralocorticoid excess Wilson (1995) J Clin Endocrinol Metab 80:3145 DELETERIOUS probably damaging P 9 HSD11B2 R208C Apparent mineralocorticoid excess Mune (1995) Nat Genet 10:394 DELETERIOUS probably damaging P 0.4 HSD11B2 R208H Apparent mineralocorticoid excess Kitanaka (1997) J Clin Endocrinol Metab 82:4054 DELETERIOUS possibly damaging UV <10 HSD11B2 R213C Apparent mineralocorticoid excess Mune (1995) Nat Genet 10:394 DELETERIOUS probably damaging P <5 HSD11B2 R279C Apparent mineralocorticoid excess Li (1998) Am J Hum Genet 63:370 DELETERIOUS probably damaging UV 67 HSD11B2 R337C Apparent mineralocorticoid excess Wilson (1995) J Clin Endocrinol Metab 80:2263 DELETERIOUS probably damaging P 7.7 HSD11B2 R337H No phenotype recorded dbSNP entry rs28934593 TOLERATED benign UV 　 HSD11B2 R359W Apparent mineralocorticoid excess Lavery (2003) Hypertension 42:123 TOLERATED possibly damaging N 　 HSD11B2 R374Q No phenotype recorded dbSNP entry rs45442297 DELETERIOUS benign N 　 HSD11B2 S180F Apparent mineralocorticoid excess Nunez (1999) Hypertension 34:638 TOLERATED possibly damaging UV <5 HSD11B2 S316F No phenotype recorded dbSNP entry rs72650123 DELETERIOUS benign N 　 HSD11B2 V148L NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD11B2 V165I NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging UV 　 HSD11B2 V273A NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD11B2 V273M NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD11B2 Y232C Apparent mineralocorticoid excess Lavery (2003) Hypertension 42:123 DELETERIOUS probably damaging P <3 HSD11B2 Y338H Apparent mineralocorticoid excess Atanasov (2007) J Am Soc Nephrol 18:1262 DELETERIOUS probably damaging P 　 HSD17B3 A188V 17 beta-hydroxysteroid dehydrogenase 3 deficiency Boehmer (1999) J Clin Endocrinol Metab 84:4713 DELETERIOUS benign UV 　 HSD17B3 A200V NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 HSD17B3 A203E 17 beta-hydroxysteroid dehydrogenase 3 deficiency Bertelloni (2009) J Endocrinol Invest 32:666 DELETERIOUS probably damaging P 　 HSD17B3 A203V Pseudohermaphroditism Geissler (1994) Nat Genet 7:34 TOLERATED benign P 10 HSD17B3 A207T No phenotype recorded dbSNP entry rs34862233 TOLERATED benign N 　 HSD17B3 A56T Pseudohermaphroditism, male Moghrabi (1998) J Clin Endocrinol Metab 83:2855 DELETERIOUS probably damaging P 18 HSD17B3 C268Y Pseudohermaphroditism, male Lindqvist (2001) J Clin Endocrinol Metab 86:921 TOLERATED benign UV 0 HSD17B3 D110Y NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign UV 　 HSD17B3 E215D Pseudohermaphroditism Andersson (1996) J Clin Endocrinol Metab 81:130 DELETERIOUS probably damaging P 　 HSD17B3 F208I Pseudohermaphroditism Andersson (1996) J Clin Endocrinol Metab 81:130 DELETERIOUS probably damaging P 　 HSD17B3 G289C No phenotype recorded dbSNP entry rs2066479 TOLERATED benign UV 　 HSD17B3 G289R No phenotype recorded dbSNP entry rs2066479 TOLERATED benign UV 　 HSD17B3 G55E NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 HSD17B3 I102F No phenotype recorded dbSNP entry rs116436956 DELETERIOUS benign N 　 HSD17B3 I158V No phenotype recorded dbSNP entry rs116600719 TOLERATED benign N 　 HSD17B3 I222V NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD17B3 L212Q 17 beta-hydroxysteroid dehydrogenase 3 deficiency Bertelloni (2006) Gynecol Endocrinol 22:488 DELETERIOUS probably damaging UV 　 HSD17B3 M197K 17 beta-hydroxysteroid dehydrogenase 3 deficiency Lee (2007) Clin Endocrinol (Oxf) 67:20 DELETERIOUS possibly damaging N 　 HSD17B3 M197L NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD17B3 M235V Pseudohermaphroditism Geissler (1994) Nat Genet 7:34 DELETERIOUS probably damaging UV 10 HSD17B3 M47V NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD17B3 N130S Pseudohermaphroditism, male Moghrabi (1998) J Clin Endocrinol Metab 83:2855 DELETERIOUS probably damaging P 20 HSD17B3 N131S NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 HSD17B3 N74T 17 beta-hydroxysteroid dehydrogenase 3 deficiency Boehmer (1999) J Clin Endocrinol Metab 84:4713 DELETERIOUS probably damaging N 　 HSD17B3 P140Q NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 HSD17B3 P282L Pseudohermaphroditism Andersson (1996) J Clin Endocrinol Metab 81:130 DELETERIOUS probably damaging N 　 HSD17B3 Q176P Pseudohermaphroditism Andersson (1996) J Clin Endocrinol Metab 81:130 TOLERATED benign UV 30 HSD17B3 R45W No phenotype recorded dbSNP entry rs139084702 DELETERIOUS probably damaging UV 　 HSD17B3 R80Q Pseudohermaphroditism Geissler (1994) Nat Genet 7:34 DELETERIOUS probably damaging P 20 HSD17B3 R80W Pseudohermaphroditism, male Bilbao (1998) Eur J Endocrinol 139:330 DELETERIOUS probably damaging P 　 HSD17B3 S232L Pseudohermaphroditism Geissler (1994) Nat Genet 7:34 DELETERIOUS possibly damaging N 10 HSD17B3 S65L Pseudohermaphroditism Andersson (1996) J Clin Endocrinol Metab 81:130 DELETERIOUS possibly damaging UV 　 HSD17B3 T241A NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 HSD17B3 T241R NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 HSD17B3 T245P No phenotype recorded dbSNP entry rs12003404 TOLERATED possibly damaging N 　 HSD17B3 V161I NO ASSOCIATED PHENOTYPE 　 DELETERIOUS possibly damaging N 　 HSD17B3 V205E Pseudohermaphroditism Andersson (1996) J Clin Endocrinol Metab 81:130 DELETERIOUS probably damaging P 　 HSD17B3 V25M No phenotype recorded dbSNP entry rs114520006 TOLERATED benign N 　 HSD17B3 V31I No phenotype recorded dbSNP entry rs2066480 TOLERATED benign N 　 POR A115V Disordered steroidogenesis Huang (2005) Am J Hum Genet 76:729 TOLERATED benign N 63 POR A172T NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 POR A287P Disordered steroidogenesis Fluck (2004) Nat Genet 36:228 DELETERIOUS probably damaging P 9 POR A462T Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS possibly damaging P 85 POR A485T Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 TOLERATED benign N 36 POR A503V Altered enzyme activity Miller (2005) Ann N Y Acad Sci 1061:100 TOLERATED benign N 67 POR C569Y Disordered steroidogenesis Fluck (2004) Nat Genet 36:228 DELETERIOUS probably damaging P 6 POR D211N Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS probably damaging UV 27 POR D255N NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 POR E300K Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS benign N 93 POR E580Q POR deficiency Homma (2006) J Clin Endocrinol Metab 91:2643 TOLERATED benign N 　 POR F204S NO ASSOCIATED PHENOTYPE 　 TOLERATED probably damaging P 　 POR G213E Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS benign UV 111 POR G413S POR deficiency Miller (2005) Ann N Y Acad Sci 1061:100 TOLERATED benign N 76 POR G539R Disordered steroidogenesis Huang (2005) Am J Hum Genet 76:729 DELETERIOUS probably damaging P 9 POR H322Q NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 POR H604P Antley-Bixler syndrome Williamson (2006) Am J Med Genet A 140A:1797 TOLERATED possibly damaging N 　 POR H628P Reduced 17,20 lyase activity Dhir (2007) Mol Endocrinol 21:1958 DELETERIOUS probably damaging P 　 POR K49N NO ASSOCIATED PHENOTYPE 　 TOLERATED benign UV 　 POR L565P Disordered steroidogenesis Huang (2005) Am J Hum Genet 76:729 DELETERIOUS probably damaging P 14 POR L577P Altered enzyme activity Hart (2008) Pharmacogenet Genomics 18:11 DELETERIOUS probably damaging P 　 POR L577R POR deficiency Sahakitrungruang (2009) J Clin Endocrinol Metab 94:4992 DELETERIOUS probably damaging P 5 POR M263V Disordered steroidogenesis Huang (2005) Am J Hum Genet 76:729 TOLERATED benign N 76 POR N185K POR deficiency Sahakitrungruang (2009) J Clin Endocrinol Metab 94:4992 DELETERIOUS probably damaging P 　 POR P228L POR deficiency Miller (2005) Ann N Y Acad Sci 1061:100 DELETERIOUS probably damaging UV 75 POR P284L Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS probably damaging UV 104 POR P284T Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS probably damaging UV 16 POR P452L Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS probably damaging UV 16 POR P55L Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 TOLERATED benign N 67 POR Q153R Disordered steroidogenesis Huang (2005) Am J Hum Genet 76:729 DELETERIOUS possibly damaging N 9 POR R316W POR deficiency Miller (2005) Ann N Y Acad Sci 1061:100 DELETERIOUS probably damaging UV 61 POR R406H Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 TOLERATED benign N 62 POR R457H Disordered steroidogenesis Fluck (2004) Nat Genet 36:228 DELETERIOUS probably damaging P 1 POR R498P Adrenal hyperplasia Krone (2012) J Clin Endocrinol Metab 97:E257 TOLERATED benign UV 　 POR R517C NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 POR R600W Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS probably damaging P 18 POR S244C Reduced 17,20 lyase activity Dhir (2007) Mol Endocrinol 21:1958 TOLERATED benign N 　 POR T142A Disordered steroidogenesis Huang (2005) Am J Hum Genet 76:729 DELETERIOUS probably damaging UV 49 POR T375A NO ASSOCIATED PHENOTYPE 　 TOLERATED possibly damaging N 　 POR T93I NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging UV 　 POR V472M Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS possibly damaging N 23 POR V492E Disordered steroidogenesis Fluck (2004) Nat Genet 36:228 DELETERIOUS probably damaging P 　 POR V608F Disordered steroidogenesis Fluck (2004) Nat Genet 36:228 DELETERIOUS probably damaging P 8 POR V631I POR deficiency Miller (2005) Ann N Y Acad Sci 1061:100 TOLERATED benign UV 74 POR V650M NO ASSOCIATED PHENOTYPE 　 DELETERIOUS benign N 　 POR V9M NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 POR Y181D Adrenal hyperplasia Arlt (2004) Lancet 363:2128 DELETERIOUS probably damaging P 　 POR Y459H Disordered steroidogenesis Huang (2005) Am J Hum Genet 76:729 DELETERIOUS probably damaging P 　 POR Y578C Antley-Bixler syndrome Fukami (2005) J Clin Endocrinol Metab 90:414 DELETERIOUS probably damaging P 　 POR Y607C Altered enzyme activity Huang (2008) Proc Natl Acad Sci U S A 105:1733 DELETERIOUS probably damaging P 　 SRD5A2 A207D Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P 　 SRD5A2 A215V Steroid-5 alpha-reductase deficiency Maimoun (2010) Int J Androl 33:841 TOLERATED possibly damaging N 　 SRD5A2 A228T Steroid-5 alpha-reductase deficiency Hiort (1996) J Clin Endocrinol Metab 81:3415 DELETERIOUS probably damaging P 　 SRD5A2 A228V 5alpha-reductase 2 deficiency Nie (2011) Mol Hum Reprod 17:57 DELETERIOUS probably damaging P 　 SRD5A2 A49T Hypospadias Silver (1999) J Urol 162:1142 DELETERIOUS probably damaging N >100 SRD5A2 A51T Reduced enzyme activity Makridakis (2000) Pharmacogenetics 10:407 TOLERATED benign N 　 SRD5A2 A62E Steroid-5 alpha-reductase deficiency Hafez (2003) Horm Res 59:281 TOLERATED benign N 　 SRD5A2 A65P Steroid-5 alpha-reductase deficiency Savas Erdeve (2010) Eur J Pediatr 169:991 TOLERATED benign N 　 SRD5A2 C133G Steroid-5 alpha-reductase deficiency Baldinotti (2008) J Androl 29:20 TOLERATED probably damaging UV <0.2 SRD5A2 C5R NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging N 　 SRD5A2 D164V Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P 　 SRD5A2 E197D Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P 　 SRD5A2 E200K Steroid-5 alpha-reductase deficiency Anwar (1997) Mol Pathol 50:51 DELETERIOUS probably damaging P 0.2 SRD5A2 E57Q Steroid-5 alpha-reductase deficiency Vilchis (2008) J Hum Genet 53:401 DELETERIOUS probably damaging UV 25 SRD5A2 F186L Steroid-5 alpha-reductase deficiency Zhou (1999) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16:311 DELETERIOUS probably damaging UV 　 SRD5A2 F194L Increased enzyme activity Makridakis (1999) Lancet 354:975 TOLERATED probably damaging UV 　 SRD5A2 F223S 5alpha-reductase deficiency Maimoun (2011) J Clin Endocrinol Metab 96:296 TOLERATED benign N 　 SRD5A2 F234L Hypospadias Wang (2004) Eur J Hum Genet 12:706 DELETERIOUS probably damaging N <0.2 SRD5A2 G104E 5alpha-reductase deficiency Maimoun (2011) J Clin Endocrinol Metab 96:296 DELETERIOUS probably damaging UV 　 SRD5A2 G115D Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS possibly damaging P 　 SRD5A2 G123R Male pseudohermaphroditism Bahceci (2005) Urology 66:407 DELETERIOUS probably damaging P 　 SRD5A2 G158R Steroid-5 alpha-reductase deficiency Hackel (2005) J Mol Med 83:569 TOLERATED probably damaging P 　 SRD5A2 G183S Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P 　 SRD5A2 G184R NO ASSOCIATED PHENOTYPE 　 DELETERIOUS probably damaging P 　 SRD5A2 G196D Steroid-5 alpha-reductase deficiency Berra (2011) Eur J Endocrinol 164:1019 DELETERIOUS probably damaging P 　 SRD5A2 G196S Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 TOLERATED probably damaging P 　 SRD5A2 G203S Steroid-5 alpha-reductase deficiency Canto (1997) Clin Endocrinol (Oxf) 46:155 DELETERIOUS probably damaging P 　 SRD5A2 G32S 5alpha-reductase deficiency Maimoun (2011) J Clin Endocrinol Metab 96:296 TOLERATED benign N 　 SRD5A2 G34R Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P <0.2 SRD5A2 G34W Steroid-5 alpha-reductase deficiency Baldinotti (2008) J Androl 29:20 DELETERIOUS probably damaging P 　 SRD5A2 G85D Steroid-5 alpha-reductase deficiency Vilchis (2000) Clin Endocrinol (Oxf) 52:383 TOLERATED possibly damaging UV <8 SRD5A2 H230P Steroid-5 alpha-reductase deficiency Wilson (1993) Endocr Rev 14:577 TOLERATED probably damaging UV 　 SRD5A2 H231R Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging UV 　 SRD5A2 I112N Steroid-5 alpha-reductase deficiency Hiort (1996) J Clin Endocrinol Metab 81:3415 DELETERIOUS benign N 　 SRD5A2 L113V Steroid-5 alpha-reductase deficiency Silver (1999) J Urol 162:1142 TOLERATED benign N 　 SRD5A2 L20P Male pseudohermaphroditism Sahakitrungruang (2008) Fertil Steril 90:2015.e11 TOLERATED benign UV 　 SRD5A2 L224H Hypospadias Wang (2004) Eur J Hum Genet 12:706 DELETERIOUS probably damaging P 　 SRD5A2 L224P Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P 　 SRD5A2 L55P 5alpha-reductase 2 deficiency Chan (2009) Hong Kong Med J 15:130 DELETERIOUS probably damaging P 　 SRD5A2 L55Q Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P <0.2 SRD5A2 L89V NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 SRD5A2 N160D Steroid-5 alpha-reductase deficiency Mazen (2003) Clin Endocrinol (Oxf) 58:627 DELETERIOUS probably damaging UV 　 SRD5A2 N193S Steroid-5 alpha-reductase deficiency Boudon (1995) J Clin Endocrinol Metab 80:2149 DELETERIOUS probably damaging P 　 SRD5A2 P181L Steroid-5 alpha-reductase deficiency Nicoletti (2005) Clin Endocrinol (Oxf) 63:375 DELETERIOUS probably damaging P 0.6 SRD5A2 P212R Steroid-5 alpha-reductase deficiency Canto (1997) Clin Endocrinol (Oxf) 46:155 TOLERATED probably damaging UV <1 SRD5A2 P30L Reduced enzyme activity Makridakis (2000) Pharmacogenetics 10:407 TOLERATED probably damaging UV 　 SRD5A2 P48R Reduced enzyme activity Makridakis (2000) Pharmacogenetics 10:407 DELETERIOUS probably damaging UV 　 SRD5A2 P59R Steroid-5 alpha-reductase deficiency Wilson (1993) Endocr Rev 14:577 DELETERIOUS probably damaging P 　 SRD5A2 P72S NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 SRD5A2 Q126R Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P 　 SRD5A2 Q56H Steroid-5 alpha-reductase deficiency Sahu (2009) J Pediatr Endocrinol Metab 22:247 DELETERIOUS probably damaging UV 　 SRD5A2 Q56R Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging UV <0.2 SRD5A2 R105K NO ASSOCIATED PHENOTYPE 　 TOLERATED probably damaging N 　 SRD5A2 R145W Steroid-5 alpha-reductase deficiency Nicoletti (2005) Clin Endocrinol (Oxf) 63:375 DELETERIOUS probably damaging P 　 SRD5A2 R171S Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging UV 　 SRD5A2 R227Q Steroid-5 alpha-reductase deficiency Hiort (1996) J Clin Endocrinol Metab 81:3415 TOLERATED possibly damaging UV 3.2 SRD5A2 R246Q Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P 　 SRD5A2 R246W Steroid-5 alpha-reductase deficiency Thigpen (1992) J Clin Invest 90:799 DELETERIOUS probably damaging P 1.6 SRD5A2 R70Q NO ASSOCIATED PHENOTYPE 　 TOLERATED benign N 　 SRD5A2 S210F Steroid-5 alpha-reductase deficiency Vilchis (2008) J Hum Genet 53:401 DELETERIOUS probably damaging P 1.6 SRD5A2 S245Y Steroid-5 alpha-reductase deficiency Vilchis (2000) Clin Endocrinol (Oxf) 52:383 DELETERIOUS probably damaging UV 　 SRD5A2 T120P Steroid-5 alpha-reductase deficiency Berra (2011) Eur J Endocrinol 164:1019 TOLERATED benign N <1 SRD5A2 T187M Reduced enzyme activity Makridakis (2000) Pharmacogenetics 10:407 DELETERIOUS possibly damaging N 　 SRD5A2 V10G 5alpha-reductase 2 deficiency Chan (2009) Hong Kong Med J 15:130 DELETERIOUS probably damaging UV 　 SRD5A2 Y235F Steroid-5 alpha-reductase deficiency Mazen (2003) Clin Endocrinol (Oxf) 58:627 DELETERIOUS benign P 　 SRD5A2 Y91D Steroid-5 alpha-reductase deficiency Wilson (1993) Endocr Rev 14:577 DELETERIOUS probably damaging P 　 SRD5A2 Y91H 5alpha-reductase deficiency Maimoun (2011) J Clin Endocrinol Metab 96:296 DELETERIOUS probably damaging P