Total 164 pathogenic variants reported for Deficiency of steroid 11-beta-monooxygenase 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) SNV
Germline
Chr8:142875012 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
CYP11B1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA339875 rs_28934586

7 SubmittersRCV000001230RCV001199200RCV002496223RCV000791917RCV004751188

NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) SNV
Germline
Chr8:142876242 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA339876 rs_104894061

7 SubmittersRCV000001232RCV002504733RCV001066246

NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln) SNV
Germline
Chr8:142875712 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA339877 rs_104894062

4 SubmittersRCV000001233RCV001851528

NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter) SNV
Germline
Chr8:142879080 Pathogenic Deficiency of steroid 11-beta-monooxygenase No Assertion Criteria Provided
CA339878 rs_104894066

1 SubmittersRCV000001235

NM_000497.4(CYP11B1):c.397A>C (p.Asn133His) SNV
Germline
Chr8:142877221 Pathogenic Deficiency of steroid 11-beta-monooxygenase No Assertion Criteria Provided
CA339880 rs_104894067

1 SubmittersRCV000001236

NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) SNV
Germline
Chr8:142875877 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA339881 rs_104894068

6 SubmittersRCV000001237RCV002247232RCV001781159RCV002496224

NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) SNV
Germline
Chr8:142879690 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA213660 rs_104894069

5 SubmittersRCV000001238RCV000029642RCV002476907RCV001851529

NM_000497.4(CYP11B1):c.1398+4A>G SNV
Germline
Chr8:142874953 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Single Submitter
CA913189134 rs_1586557065

2 SubmittersRCV000001240RCV002496225

NM_000497.4(CYP11B1):c.595+16G>T SNV
Germline
Chr8:142877007 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Congenital adrenal hyperplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA913189133 rs_1365173817

3 SubmittersRCV000001242RCV005049306RCV004585979

NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) SNV
Germline
Chr8:142875086 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
CYP11B1-related disorder
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA339882 rs_267606755

8 SubmittersRCV000001244RCV001851530RCV003415613RCV005041962

NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) SNV
Germline
Chr8:142879146 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA213667 rs_104894070

7 SubmittersRCV000001245RCV000517938RCV000029646RCV002490289

NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp) SNV
Germline
Chr8:142875730 Pathogenic Deficiency of steroid 11-beta-monooxygenase No Assertion Criteria Provided
CA339884 rs_104894071

1 SubmittersRCV000001246

NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) SNV
Germline
Chr8:142875830 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia
Glucocorticoid-remediable aldosteronism
not specified
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Conflicting Classifications
CA213644 rs_61752766

4 SubmittersRCV000029633RCV000271806RCV000518202RCV001095249RCV000874647

NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) SNV
Germline
Chr8:142875713 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA213654 rs_61752786

6 SubmittersRCV000029638RCV002250464RCV002496449RCV004767021

NM_000497.4(CYP11B1):c.1122-20A>G SNV
Germline
Chr8:142875332 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia
Condition: not provided
not specified
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Conflicting Classifications
CA213657 rs_61752794

4 SubmittersRCV000029640RCV000711394RCV004998109RCV001250135

NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) SNV
Germline
Chr8:142875290 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia
Glucocorticoid-remediable aldosteronism
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Conflicting Classifications
CA213658 rs_5293

4 SubmittersRCV000029641RCV000291528RCV000874744RCV001095138

NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) SNV
Germline
Chr8:142879689 Likely pathogenic Congenital adrenal hyperplasia
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA213661 rs_193922538

5 SubmittersRCV000029643RCV001852593RCV002482915RCV003460492

NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) SNV
Germline
Chr8:142879184 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia
Glucocorticoid-remediable aldosteronism
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Conflicting Classifications
CA213663 rs_9657022

6 SubmittersRCV000029644RCV000398212RCV000874015RCV001095256

NM_000497.4(CYP11B1):c.799+5G>C SNV
Germline
Chr8:142876677 Conflicting classifications of pathogenicity Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
CYP11B1-related disorder
Criteria Provided
Conflicting Classifications
CA213671 rs_193922542

8 SubmittersRCV000029649RCV000665430RCV000517998RCV002504827RCV003952372

NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) SNV
Germline
Chr8:142875767 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA344775 rs_146124466

8 SubmittersRCV000050222RCV000711392RCV000763178

NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) SNV
Germline
Chr8:142877191 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA344777 rs_140336749

6 SubmittersRCV000050223RCV001781383RCV005042164

NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) SNV
Germline
Chr8:142876299 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA344779 rs_387907573

7 SubmittersRCV000050224RCV000991870RCV005042165

NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val) SNV
Germline
Chr8:142876278 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Congenital adrenal hyperplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA344781 rs_387907572

5 SubmittersRCV000050225RCV001239586RCV005406793

NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) SNV
Germline
Chr8:142875838 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA344785 rs_149881706

5 SubmittersRCV000050227RCV001382848RCV005042166

NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) SNV
Germline
Chr8:142877196 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
CYP11B1-related disorder
Congenital adrenal hyperplasia
Criteria Provided
Conflicting Classifications
CA4905443 rs_267601810

6 SubmittersRCV000711402RCV000673573RCV003421968RCV005430964

NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) SNV
Germline
Chr8:142875024 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA4905016 rs_779103938

6 SubmittersRCV000224289RCV000672120RCV002494612

NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=) SNV
Germline
Chr8:142875743 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905159 rs_754660381

2 SubmittersRCV000298406RCV000401066RCV000918087

NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) SNV
Germline
Chr8:142875819 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905181 rs_151335623

5 SubmittersRCV000277689RCV000325754RCV000499909RCV000877389

NM_000497.4(CYP11B1):c.954+9G>C SNV
Germline
Chr8:142876232 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905241 rs_6411

2 SubmittersRCV000329356RCV000376915RCV001479988

NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His) SNV
Germline
Chr8:142876372 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905288 rs_141368413

2 SubmittersRCV000282706RCV000349385RCV000875628

NM_000497.4(CYP11B1):c.606G>A (p.Leu202=) SNV
Germline
Chr8:142876875 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4905360 rs_61751154

3 SubmittersRCV000272874RCV000320919RCV000877983RCV005238952

NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) SNV
Germline
Chr8:142874434 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4904948 rs_374517238

4 SubmittersRCV000354829RCV000665161RCV000711398

NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr) SNV
Germline
Chr8:142875791 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
not specified
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905172 rs_6407

3 SubmittersRCV000312683RCV000503743RCV000369678RCV002058706

NM_000497.4(CYP11B1):c.*848C>T SNV
Germline
Chr8:142873525 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Conflicting Classifications
CA10630438 rs_149520110

1 SubmittersRCV000269207RCV000328910

NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=) SNV
Germline
Chr8:142874397 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4904939 rs_776766470

3 SubmittersRCV000268296RCV000360638RCV001425759RCV005238951

NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=) SNV
Germline
Chr8:142876370 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4905287 rs_5290

3 SubmittersRCV000335488RCV000395358RCV000873646RCV001289403

NM_000497.4(CYP11B1):c.375C>G (p.His125Gln) SNV
Germline
Chr8:142879052 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4905542 rs_201137503

4 SubmittersRCV000280074RCV000318740RCV000878847RCV004022070

NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala) SNV
Germline
Chr8:142879710 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905712 rs_201951316

2 SubmittersRCV000304435RCV000361436RCV000876416

NM_000497.4(CYP11B1):c.395+9C>T SNV
Germline
Chr8:142879023 Conflicting classifications of pathogenicity not specified
Condition: not provided
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Conflicting Classifications
CA4905530 rs_61751140

4 SubmittersRCV000501378RCV000872189RCV001158700RCV001158701

NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) SNV
Germline
Chr8:142876241 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Congenital adrenal hyperplasia
CYP11B1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA463327589 rs_753774484

7 SubmittersRCV000516213RCV000667365RCV003387864RCV004751577

NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter) SNV
Germline
Chr8:142875306 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
CYP11B1-related disorder
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA4905098 rs_760880418

5 SubmittersRCV000671118RCV002531270RCV004751658RCV005046891

NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly) SNV
Germline
Chr8:142875721 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
CYP11B1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA4905146 rs_368944209

3 SubmittersRCV000670290RCV001868241RCV003420186

NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val) SNV
Germline
Chr8:142875841 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA372394361 rs_1326688256

4 SubmittersRCV000667891RCV003558494RCV005046876

NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter) SNV
Germline
Chr8:142876702 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Single Submitter
CA372395422 rs_1554652999

2 SubmittersRCV000674543RCV005049653

NM_000497.4(CYP11B1):c.595+1G>A SNV
Germline
Chr8:142877022 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Conflicting Classifications
CA372395826 rs_1264073726

8 SubmittersRCV000667755RCV000732722RCV003230566RCV005046874

NM_000497.4(CYP11B1):c.395+1G>C SNV
Unknown
Chr8:142879031 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372396419 rs_1554653514

2 SubmittersRCV000673849

NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter) SNV
Germline
Chr8:142879759 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA372397430 rs_763195324

4 SubmittersRCV000667072RCV001040067RCV005049638

NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) SNV
Germline
Chr8:142875289 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA372392543 rs_1412048304

4 SubmittersRCV000673616RCV004702305RCV005046906

NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) SNV
Germline
Chr8:142877124 Pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372396042 rs_1554653185

2 SubmittersRCV000673116

NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) SNV
Germline
Chr8:142877206 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA4905446 rs_764251434

4 SubmittersRCV000668003RCV002530733

NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly) SNV
Germline
Chr8:142879081 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Conflicting Classifications
CA4905551 rs_772733691

4 SubmittersRCV000668604RCV001161915RCV001868223RCV005046879

NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) SNV
Germline
Chr8:142879627 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Congenital adrenal hyperplasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905689 rs_5282

3 SubmittersRCV000668553RCV002282305RCV005091936

NM_000497.4(CYP11B1):c.1398+2T>C SNV
Unknown
Chr8:142874955 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase No Assertion Criteria Provided
CA372391167 rs_577022490

1 SubmittersRCV000674749

NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter) SNV
Germline
Chr8:142879769 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Single Submitter
CA372397447 rs_1554653714

2 SubmittersRCV000674379RCV001855607

NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His) SNV
Germline
Chr8:142874994 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA4905010 rs_367634557

4 SubmittersRCV000672406RCV002531315RCV004526748RCV005046898

NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) SNV
Germline
Chr8:142875283 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA4905094 rs_764598023

5 SubmittersRCV000667465RCV000763177RCV001386864

NM_000497.4(CYP11B1):c.955-1G>A SNV
Unknown
Chr8:142875879 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase No Assertion Criteria Provided
CA372394614 rs_1456715954

1 SubmittersRCV000666001

NM_000497.4(CYP11B1):c.799+1G>C SNV
Unknown
Chr8:142876681 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase No Assertion Criteria Provided
CA372395367 rs_1554652990

1 SubmittersRCV000673530

NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter) SNV
Germline
Chr8:142876701 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Single Submitter
CA372395417 rs_1554652998

2 SubmittersRCV000670838RCV000711405

NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter) SNV
Germline
Chr8:142876741 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA187464090 rs_866430018

3 SubmittersRCV000669979RCV001227579

NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg) SNV
Germline
Chr8:142876242 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Single Submitter
CA372395017 rs_104894061

2 SubmittersRCV000672570RCV001224692

NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter) SNV
Unknown
Chr8:142879123 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase No Assertion Criteria Provided
CA372396616 rs_1554653551

1 SubmittersRCV000670507

NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) SNV
Germline
Chr8:142879579 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Congenital adrenal hyperplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA372397068 rs_1489638195

3 SubmittersRCV000665385RCV002271551

NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter) SNV
Germline
Chr8:142879597 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA372397102 rs_1554653675

3 SubmittersRCV000674113RCV001233426

NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter) SNV
Unknown
Chr8:142879646 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase No Assertion Criteria Provided
CA372397212 rs_1383321200

1 SubmittersRCV000672260

NM_000497.4(CYP11B1):c.1398+5G>C SNV
Germline
Chr8:142874952 Pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Congenital adrenal hyperplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA891842739 rs_1563867837

4 SubmittersRCV000711396RCV004569402RCV003387915

NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) SNV
Germline
Chr8:142877169 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Conflicting Classifications
CA4905438 rs_142484434

3 SubmittersRCV000779553RCV001165426RCV005047037

NM_000497.4(CYP11B1):c.395+6C>T SNV
Germline
Chr8:142879026 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
not specified
Criteria Provided
Conflicting Classifications
CA4905532 rs_553707049

4 SubmittersRCV000877600RCV001158702RCV001158703RCV001817042

NM_000497.4(CYP11B1):c.800-6G>A SNV
Germline
Chr8:142876401 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Conflicting Classifications
CA4905298 rs_369207471

2 SubmittersRCV000930239RCV005047152

NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) SNV
Germline
Chr8:142874997 Pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA372391389 rs_1447069098

4 SubmittersRCV001063066RCV002497451RCV002282447RCV004570261

NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) SNV
Germline
Chr8:142874420 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA4904946 rs_373736765

3 SubmittersRCV001163110RCV001163111RCV001408631RCV003155365

NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys) SNV
Germline
Chr8:142876745 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4905329 rs_777913851

3 SubmittersRCV001161805RCV001161806RCV005049773RCV005540290

NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro) SNV
Germline
Chr8:142877076 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905410 rs_146105017

3 SubmittersRCV001165420RCV001165421RCV005039984RCV002559585

NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) SNV
Germline
Chr8:142877168 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905436 rs_778556211

3 SubmittersRCV001165424RCV001165425RCV001405078

NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn) SNV
Germline
Chr8:142879183 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Conflicting Classifications
CA4905579 rs_762347776

1 SubmittersRCV001161920RCV001163438

NM_000497.4(CYP11B1):c.1200+11C>T SNV
Germline
Chr8:142875223 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905079 rs_753651666

2 SubmittersRCV001165191RCV001165190RCV003737011

NM_000497.4(CYP11B1):c.595+14G>A SNV
Germline
Chr8:142877009 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA585726671 rs_1208266252

2 SubmittersRCV001163321RCV001163322RCV003574853

NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) SNV
Germline
Chr8:142875298 Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA372392611 rs_1816901292

2 SubmittersRCV001219956RCV003469377

NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter) SNV
Germline
Chr8:142875821 Pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA372394210 rs_1214983921

3 SubmittersRCV001210277RCV005049788RCV002291733

NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter) SNV
Unknown
Chr8:142876345 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372395245 rs_1816949224

1 SubmittersRCV001264085

NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter) SNV
Unknown
Chr8:142876370 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372395298 rs_5290

1 SubmittersRCV001264086

NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter) SNV
Unknown
Chr8:142877193 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372396179 rs_1479660166

1 SubmittersRCV001264087

NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) SNV
Germline
Chr8:142876249 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
CYP11B1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA4905245 rs_375833424

5 SubmittersRCV001290136RCV002541804RCV005040131RCV004751955

NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro) SNV
Germline
Chr8:142875012 Pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA372391454 rs_28934586

2 SubmittersRCV001332501RCV003989685

NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter) SNV
Germline
Chr8:142877197 Pathogenic Condition: not provided
Congenital adrenal hyperplasia
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA4905444 rs_775479837

3 SubmittersRCV001386866RCV001779162RCV003469726

NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) SNV
Unknown
Chr8:142876305 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Single Submitter
CA4905269 rs_375892072

1 SubmittersRCV001535982

NM_000497.4(CYP11B1):c.1201-1G>A SNV
Germline
Chr8:142875155 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Multiple Submitters
No Conflicts
CA372392086 rs_1437397442

2 SubmittersRCV001667863

NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter) SNV
Germline
Chr8:142876688 Pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA372395385 rs_2130274854

2 SubmittersRCV001918990RCV003471042

NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter) SNV
Germline
Chr8:142877169 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA372396131 rs_142484434

2 SubmittersRCV001895798RCV003470993

NM_000497.4(CYP11B1):c.596-2A>T SNV
Germline
Chr8:142876887 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA4905362 rs_775946442

3 SubmittersRCV001994155RCV003464351

NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys) SNV
Germline
Chr8:142875013 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA372391457 rs_1221010438

3 SubmittersRCV001959022RCV003471195

NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser) SNV
Germline
Chr8:142876682 Pathogenic/Likely pathogenic Glucocorticoid-remediable aldosteronism
Condition: not provided
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA372395371 rs_1421641874

3 SubmittersRCV002249852RCV003094023RCV005042757

NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter) SNV
Germline
Chr8:142876282 Pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372395121 rs_2130273191

1 SubmittersRCV002251185

NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter) SNV
Unknown
Chr8:142876381 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372395327 rs_1360208732

1 SubmittersRCV002310011

NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter) SNV
Unknown
Chr8:142876787 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372395606 rs_2488678145

1 SubmittersRCV002308096

NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter) SNV
Unknown
Chr8:142877208 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372396209 rs_2130277148

1 SubmittersRCV002306897

NM_000497.4(CYP11B1):c.396-1G>A SNV
Germline
Chr8:142877223 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA4905450 rs_141305721

3 SubmittersRCV003058204RCV005045183RCV004572728

NM_000497.4(CYP11B1):c.994C>T (p.Arg332Trp) SNV
Germline
Chr8:142875839 Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA4905184 rs_777626314

2 SubmittersRCV002628917RCV005045352

NM_000497.4(CYP11B1):c.706C>T (p.Gln236Ter) SNV
Germline
Chr8:142876775 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Multiple Submitters
No Conflicts
CA372395583 rs_1816968040

2 SubmittersRCV003038529RCV005045169

NM_000497.4(CYP11B1):c.1361G>C (p.Arg454Pro) SNV
Germline
Chr8:142874994 Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Congenital adrenal hyperplasia
Criteria Provided
Conflicting Classifications
CA372391375 rs_367634557

2 SubmittersRCV005047529RCV005414291

NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter) SNV
Germline
Chr8:142876683 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
CA372395372 rs_370404312

2 SubmittersRCV003561333RCV003388670

NM_000497.4(CYP11B1):c.1122-2A>G SNV
Unknown
Chr8:142875314 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372392746 rs_2488675946

1 SubmittersRCV003468616

NM_000497.4(CYP11B1):c.1201-9C>A SNV
Unknown
Chr8:142875163 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA2579268138 rs_759939173

1 SubmittersRCV003468617

NM_000497.4(CYP11B1):c.1399-1G>C SNV
Unknown
Chr8:142874487 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372391138 rs_2488674652

1 SubmittersRCV003468619

NM_000497.4(CYP11B1):c.1200+1G>T SNV
Unknown
Chr8:142875233 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372392135 rs_778735553

1 SubmittersRCV003468624

NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg) SNV
Germline
Chr8:142876682 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Conflicting Classifications
CA372395370 rs_1421641874

3 SubmittersRCV004999943RCV003459901

NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu) SNV
Germline
Chr8:142877196 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372396182 rs_267601810

1 SubmittersRCV003459898

NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp) SNV
Germline
Chr8:142876395 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
CA372395356 rs_2488677617

1 SubmittersRCV003459902

NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg) SNV
Germline
Chr8:142875814 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Conflicting Classifications
CA4905179 rs_764534524

2 SubmittersRCV003459904RCV005047592

NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser) SNV
Germline
Chr8:142874419 Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA4904945 rs_750428278

2 SubmittersRCV003459906RCV003778514

NM_000497.4(CYP11B1):c.1398+6C>G SNV
Germline
Chr8:142874951 Conflicting classifications of pathogenicity not specified
Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905001 rs_776284924

3 SubmittersRCV003490854RCV005047634RCV005062993

NM_000497.4(CYP11B1):c.1212C>T (p.Arg404=) SNV
Germline
Chr8:142875143 Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4905058 rs_4998897

2 SubmittersRCV005051361RCV003705141

NM_000497.4(CYP11B1):c.955-2A>G SNV
Unknown
Chr8:142875880 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase Criteria Provided
Single Submitter
rs_2488676743

1 SubmittersRCV004575746

NM_000497.4(CYP11B1):c.1111G>A (p.Glu371Lys) SNV
Germline
Chr8:142875722 Likely pathogenic Congenital adrenal hyperplasia
Glucocorticoid-remediable aldosteronism
Deficiency of steroid 11-beta-monooxygenase
Criteria Provided
Multiple Submitters
No Conflicts
rs_2488676492

2 SubmittersRCV004586335RCV005040709

NM_000497.4(CYP11B1):c.1121+1G>A SNV
Germline
Chr8:142875711 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Single Submitter

1 SubmittersRCV005040975

NM_000497.4(CYP11B1):c.955-3C>A SNV
Germline
Chr8:142875881 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Single Submitter

1 SubmittersRCV005040981

NM_000497.4(CYP11B1):c.954G>T (p.Thr318=) SNV
Germline
Chr8:142876241 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Single Submitter

1 SubmittersRCV005040982

NM_000497.4(CYP11B1):c.395+1G>A SNV
Germline
Chr8:142879031 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Single Submitter

1 SubmittersRCV005040999

NM_000497.4(CYP11B1):c.30C>A (p.Cys10Ter) SNV
Germline
Chr8:142879784 Likely pathogenic Deficiency of steroid 11-beta-monooxygenase
Glucocorticoid-remediable aldosteronism
Criteria Provided
Single Submitter

1 SubmittersRCV005041016