Total 61 pathogenic variants reported for 3 beta-Hydroxysteroid dehydrogenase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) SNV
Germline		 Chr1:119422013 Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121921 rs_80358216

4 SubmittersRCV000012967RCV001382059
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter) SNV
Germline		 Chr1:119422246 Pathogenic Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121925 rs_80358217

5 SubmittersRCV001069637RCV001275503RCV004767003
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) SNV
Germline		 Chr1:119415448 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter
 CA121927 rs_28934880

2 SubmittersRCV000012971
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys) SNV
Germline		 Chr1:119422620 Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency No Assertion Criteria Provided
 CA121929 rs_80358218

1 SubmittersRCV000012972
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) SNV
Germline		 Chr1:119421925 Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121931 rs_80358219

4 SubmittersRCV000012973RCV001233258
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) SNV
Germline		 Chr1:119422165 Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121933 rs_80358220

3 SubmittersRCV000012974RCV002271368
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) SNV
Germline		 Chr1:119422277 Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121935 rs_80358221

5 SubmittersRCV000012975RCV001039417RCV002222349
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu) SNV
Germline		 Chr1:119422523 Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency No Assertion Criteria Provided
 CA121937 rs_121964897

1 SubmittersRCV000012977
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) SNV
Germline		 Chr1:119422208 Conflicting classifications of pathogenicity not specified
Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2-related disorder		 Criteria Provided
Conflicting Classifications
 CA214012 rs_35887327

6 SubmittersRCV000030039RCV000965562RCV001097134RCV003964818
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) SNV
Germline		 Chr1:119422002 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1035986 rs_6207

4 SubmittersRCV000360945RCV003930198RCV000894296
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) SNV
Germline		 Chr1:119422011 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10607513 rs_886045197

2 SubmittersRCV000403798RCV001481730
NM_000198.4(HSD3B2):c.308-8G>A SNV
Germline		 Chr1:119421801 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA1035954 rs_371712928

4 SubmittersRCV000336647RCV000913799RCV003151013
NM_000198.4(HSD3B2):c.423C>T (p.His141=) SNV
Germline		 Chr1:119421924 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1035972 rs_751470493

4 SubmittersRCV000306167RCV003940084RCV000903920
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) SNV
Germline		 Chr1:119422122 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1036003 rs_143758913

4 SubmittersRCV000302653RCV000905284
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) SNV
Germline		 Chr1:119422251 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1036035 rs_755461071

3 SubmittersRCV000271941RCV000906072
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) SNV
Germline		 Chr1:119422557 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1036093 rs_781770416

3 SubmittersRCV000277592RCV000916728
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) SNV
Germline		 Chr1:119415432 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1035859 rs_376207606

3 SubmittersRCV000391205RCV000941557
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) SNV
Germline		 Chr1:119419497 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1035920 rs_150892928

6 SubmittersRCV000281638RCV000913749RCV005338133
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) SNV
Germline		 Chr1:119422565 Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1036097 rs_767128094

3 SubmittersRCV000603955RCV002298708
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) SNV
Germline		 Chr1:119422504 Pathogenic Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1036079 rs_148200568

6 SubmittersRCV000733829RCV001830636
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) SNV
Germline		 Chr1:119421966 Conflicting classifications of pathogenicity Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications
 CA1035981 rs_114527791

4 SubmittersRCV000888127RCV001100882
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) SNV
Germline		 Chr1:119422001 Conflicting classifications of pathogenicity Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications
 CA1035985 rs_35486059

5 SubmittersRCV000898183RCV001100883
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) SNV
Germline		 Chr1:119422461 Conflicting classifications of pathogenicity Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA1036069 rs_34412477

6 SubmittersRCV000900316RCV001097136RCV003940852RCV005236411
NM_000198.4(HSD3B2):c.308-9C>T SNV
Germline		 Chr1:119421800 Conflicting classifications of pathogenicity Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA1035953 rs_375047799

4 SubmittersRCV000911989RCV001100607RCV001818836
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) SNV
Germline		 Chr1:119422310 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2-related disorder
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA1036043 rs_75429891

8 SubmittersRCV001097135RCV003963039RCV002511034RCV003226434
NM_000198.4(HSD3B2):c.308-14C>A SNV
Germline		 Chr1:119421795 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1035951 rs_750286630

2 SubmittersRCV001100606RCV003727853
NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter) SNV
Germline		 Chr1:119415428 Pathogenic Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341394018 rs_765335418

2 SubmittersRCV001217332RCV001580573
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) SNV
Germline		 Chr1:119422019 Pathogenic Condition: not provided
Congenital adrenal hyperplasia
3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1035988 rs_762479018

5 SubmittersRCV001215298RCV001806054RCV001536075RCV004754704
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) SNV
Germline		 Chr1:119422432 Pathogenic/Likely pathogenic Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2-related disorder
Congenital adrenal hyperplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1036063 rs_781213951

4 SubmittersRCV001206762RCV001833816RCV003405390RCV003486965
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter) SNV
Germline		 Chr1:119422501 Pathogenic/Likely pathogenic Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA30212300 rs_905880501

3 SubmittersRCV001229175RCV001833981
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg) SNV
Germline		 Chr1:119421886 Conflicting classifications of pathogenicity Condition: not provided
Congenital adrenal hyperplasia
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications
 CA1035964 rs_587628683

4 SubmittersRCV001247424RCV003323831RCV003462826
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter) SNV
Germline		 Chr1:119415434 Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1035860 rs_766474996

3 SubmittersRCV001831404RCV001390355
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) SNV
Germline		 Chr1:119419519 Pathogenic Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1035929 rs_757033996

4 SubmittersRCV001382058RCV001836390
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter) SNV
Germline		 Chr1:119422376 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter
 CA1036056 rs_756663759

1 SubmittersRCV001782270
NM_000198.4(HSD3B2):c.35G>A (p.Gly12Glu) SNV
Germline		 Chr1:119415454 Pathogenic Condition: not provided
Congenital adrenal hyperplasia
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1035865 rs_756607591

3 SubmittersRCV002045814RCV005406272RCV005008420
NM_000198.4(HSD3B2):c.701T>C (p.Leu234Pro) SNV
Germline		 Chr1:119422202 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter
 CA341398052 rs_1651905495

1 SubmittersRCV003237406
NM_000198.4(HSD3B2):c.454A>G (p.Thr152Ala) SNV
Germline		 Chr1:119421955 Conflicting classifications of pathogenicity Inborn genetic diseases
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications
 CA1035977 rs_778188253

2 SubmittersRCV003344688RCV005012890
NM_000198.4(HSD3B2):c.308-1G>C SNV
Germline		 Chr1:119421808 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency
HSD3B2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341395873 rs_2526391147

2 SubmittersRCV005012933RCV003410454
NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly) SNV
Germline		 Chr1:119421848 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter
 CA341396013 rs_2526391280

1 SubmittersRCV003459900
NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys) SNV
Germline		 Chr1:119422292 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter
 CA341398369 rs_1651911095

1 SubmittersRCV003459923
NM_000198.4(HSD3B2):c.947G>A (p.Arg316His) SNV
Germline		 Chr1:119422448 Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter
 CA1036066 rs_773331795

1 SubmittersRCV003459935
NM_000198.4(HSD3B2):c.757T>A (p.Tyr253Asn) SNV
Germline		 Chr1:119422258 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341398227 rs_1399005702

2 SubmittersRCV005013027RCV003562287
NM_000198.4(HSD3B2):c.424G>T (p.Glu142Ter) SNV
Germline		 Chr1:119421925 Pathogenic/Likely pathogenic Condition: not provided
3 beta-Hydroxysteroid dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1035973 rs_80358219

2 SubmittersRCV003567669RCV005013056
NM_000198.4(HSD3B2):c.749G>T (p.Gly250Val) SNV
Germline		 Chr1:119422250 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter

2 SubmittersRCV005017470
NM_000198.4(HSD3B2):c.55G>A (p.Val19Ile) SNV
Germline		 Chr1:119415474 Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005007216RCV005575301
NM_000198.4(HSD3B2):c.574G>T (p.Glu192Ter) SNV
Germline		 Chr1:119422075 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005012047
NM_000198.4(HSD3B2):c.607G>T (p.Glu203Ter) SNV
Germline		 Chr1:119422108 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005003251
NM_000198.4(HSD3B2):c.1048C>T (p.Gln350Ter) SNV
Germline		 Chr1:119422549 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005013871
NM_000198.4(HSD3B2):c.1117T>C (p.Ter373Arg) SNV
Germline		 Chr1:119422618 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005019840
NM_000198.4(HSD3B2):c.308-1G>A SNV
Germline		 Chr1:119421808 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005407465
NM_000198.4(HSD3B2):c.1060G>T (p.Glu354Ter) SNV
Germline		 Chr1:119422561 Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency No Assertion Criteria Provided

1 SubmittersRCV005619903