Total 87 pathogenic variants reported for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) SNV
Germline		 Chr2:31526225 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340064 rs_121434244

3 SubmittersRCV000003501RCV001574452
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) SNV
Germline		 Chr2:31580737 Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided
Abnormality of the genitourinary system		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340068 rs_121434245

4 SubmittersRCV000003503RCV001269601RCV001813943
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) SNV
Germline		 Chr2:31533704 Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA340070 rs_121434246

4 SubmittersRCV000003504
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) SNV
Germline		 Chr2:31531371 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA340072 rs_121434247

4 SubmittersRCV000003505
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) SNV
Germline		 Chr2:31529326 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA340074 rs_121434248

4 SubmittersRCV000003506
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) SNV
Germline		 Chr2:31529323 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340077 rs_121434249

7 SubmittersRCV000003508RCV001270015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) SNV
Germline		 Chr2:31529419 Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA340079 rs_121434250

7 SubmittersRCV000003509RCV001269804
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) SNV
Germline		 Chr2:31529313 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340081 rs_121434251

7 SubmittersRCV000003510RCV001552751
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) SNV
Germline		 Chr2:31529370 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 CA340083 rs_121434252

3 SubmittersRCV000003512
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) SNV
Germline		 Chr2:31529414 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 CA340085 rs_121434253

2 SubmittersRCV000003513
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) SNV
Germline/somatic		 Chr2:31529325 Pathogenic/Likely pathogenic Micropenis
Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Autism spectrum disorder
SRD5A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116158 rs_9332964

14 SubmittersRCV000003515RCV000083663RCV000288398RCV003313913RCV003944795
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) SNV
Germline		 Chr2:31533741 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1599969 rs_267599353

2 SubmittersRCV000634579RCV001270012
NM_000348.4(SRD5A2):c.210G>A (p.Arg70=) SNV
Germline		 Chr2:31580691 Conflicting classifications of pathogenicity Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications
 CA224895 rs_61750388

3 SubmittersRCV000083647RCV001453334
NM_000348.4(SRD5A2):c.548-2A>C SNV
Germline		 Chr2:31529459 Pathogenic/Likely pathogenic Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA224911 rs_61750397

3 SubmittersRCV000083658RCV000686310
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) SNV
Germline		 Chr2:31526259 Conflicting classifications of pathogenicity Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA224922 rs_9332966

4 SubmittersRCV000083665RCV001088179RCV003317085
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg) SNV
Germline		 Chr2:31580801 Pathogenic Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA45142058 rs_782032018

2 SubmittersRCV000414643RCV002523914
NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu) SNV
Germline		 Chr2:31531376 Pathogenic Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042440 rs_1057517829

2 SubmittersRCV000413891RCV003500527
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) SNV
Germline		 Chr2:31533671 Pathogenic Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1599952 rs_368386747

7 SubmittersRCV000413020RCV000545602
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) SNV
Germline		 Chr2:31580690 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA16609845 rs_1060499834

2 SubmittersRCV000469192
NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr) SNV
Germline		 Chr2:31526227 Conflicting classifications of pathogenicity not specified
Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications
 CA1599847 rs_145712014

3 SubmittersRCV000499604RCV000873320RCV001446958
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) SNV
Germline		 Chr2:31580885 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided
SRD5A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1600043 rs_9332960

6 SubmittersRCV000500379RCV000578706RCV003403177
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) SNV
Unknown		 Chr2:31526236 Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 CA346597764 rs_1553323036

1 SubmittersRCV000508957
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) SNV
Germline		 Chr2:31526257 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1599849 rs_772283403

3 SubmittersRCV000529458RCV004584395
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) SNV
Germline		 Chr2:31529310 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 CA346597847 rs_748899308

2 SubmittersRCV000553178
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) SNV
Germline		 Chr2:31529382 Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA1599875 rs_759318152

2 SubmittersRCV000548299
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) SNV
Germline		 Chr2:31529398 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA1599879 rs_9332961

3 SubmittersRCV000535535
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) SNV
Germline		 Chr2:31533711 Conflicting classifications of pathogenicity Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications
 CA1599959 rs_28383048

2 SubmittersRCV000537388RCV001519907
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) SNV
Germline		 Chr2:31526224 Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA1599846 rs_9332967

5 SubmittersRCV000546486
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) SNV
Germline		 Chr2:31529322 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 CA346597874 rs_1553323488

1 SubmittersRCV000540681
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) SNV
Germline		 Chr2:31529427 Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1599888 rs_763296857

4 SubmittersRCV000534325RCV001269600
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) SNV
Germline		 Chr2:31529407 Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Conflicting Classifications
 CA1599881 rs_756853742

4 SubmittersRCV000582995
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter) SNV
Germline		 Chr2:31531384 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency No Assertion Criteria Provided
 CA346598184 rs_1200261940

1 SubmittersRCV000581936
NM_000348.4(SRD5A2):c.282-2A>G SNV
Germline		 Chr2:31533768 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Single Submitter
 CA346598741 rs_1340425455

3 SubmittersRCV000583485RCV001821708
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp) SNV
Germline		 Chr2:31580630 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency No Assertion Criteria Provided
 CA1599995 rs_201175894

1 SubmittersRCV000581450
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) SNV
Germline		 Chr2:31580630 Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1599996 rs_201175894

3 SubmittersRCV000582682RCV001821707
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser) SNV
Germline		 Chr2:31580696 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency No Assertion Criteria Provided
 CA346598903 rs_1553329443

1 SubmittersRCV000583779
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) SNV
Germline		 Chr2:31580732 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 CA1600017 rs_750444774

2 SubmittersRCV000582093
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) SNV
Germline		 Chr2:31580842 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1600035 rs_761824859

4 SubmittersRCV000583658RCV001591351
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) SNV
Germline		 Chr2:31529385 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA1599876 rs_767564684

2 SubmittersRCV000634581
NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg) SNV
Germline		 Chr2:31529419 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 rs_121434250

1 SubmittersRCV000660891
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) SNV
Germline		 Chr2:31533690 Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_764433016

2 SubmittersRCV000706218
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg) SNV
Germline		 Chr2:31580801 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_782032018

2 SubmittersRCV001030762
NM_000348.4(SRD5A2):c.384C>G (p.Tyr128Ter) SNV
Germline		 Chr2:31533664 Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency No Assertion Criteria Provided
 rs_1665963551

1 SubmittersRCV001175241
NM_000348.4(SRD5A2):c.485A>C (p.His162Pro) SNV
Germline		 Chr2:31531433 Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_1665904910

2 SubmittersRCV001249472
NM_000348.4(SRD5A2):c.321T>A (p.Tyr107Ter) SNV
Germline		 Chr2:31533727 Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency No Assertion Criteria Provided
 rs_781214178

1 SubmittersRCV001268947
NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro) SNV
Germline		 Chr2:31580708 Pathogenic/Likely pathogenic Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1186430097

2 SubmittersRCV001269740RCV003500674
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro) SNV
Germline		 Chr2:31580737 Pathogenic/Likely pathogenic Condition: not provided
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_121434245

2 SubmittersRCV001270011RCV002272440
NM_000348.4(SRD5A2):c.169G>T (p.Glu57Ter) SNV
Germline		 Chr2:31580732 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 rs_750444774

1 SubmittersRCV001726693
NM_000348.4(SRD5A2):c.589G>A (p.Glu197Lys) SNV
Germline		 Chr2:31529416 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter
 rs_534671822

1 SubmittersRCV001726695
NM_000348.4(SRD5A2):c.21G>A (p.Gln7=) SNV
Germline		 Chr2:31580880 Conflicting classifications of pathogenicity not specified
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications
 rs_2148107447

2 SubmittersRCV001822461RCV003607428
NM_000348.4(SRD5A2):c.10C>T (p.Gln4Ter) SNV
Germline		 Chr2:31580891 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002465022
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser) SNV
Germline		 Chr2:31531405 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002725597
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=) SNV
Germline		 Chr2:31529327 Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Conflicting Classifications

2 SubmittersRCV002847112
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg) SNV
Germline		 Chr2:31580705 Conflicting classifications of pathogenicity not specified
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003317732RCV003777292
NM_000348.4(SRD5A2):c.683C>G (p.Ala228Gly) SNV
Germline		 Chr2:31529322 Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003317733
NM_000348.4(SRD5A2):c.35C>A (p.Ala12Glu) SNV
Germline		 Chr2:31580866 Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency No Assertion Criteria Provided

1 SubmittersRCV003445401
NM_000348.4(SRD5A2):c.433C>T (p.Arg145Trp) SNV
Germline		 Chr2:31533615 Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003501403
NM_000348.4(SRD5A2):c.689A>C (p.His230Pro) SNV
Germline		 Chr2:31529316 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003501684
NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg) SNV
Germline		 Chr2:31580734 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003501686
NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter) SNV
Germline		 Chr2:31580743 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003501687
NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter) SNV
Germline		 Chr2:31529403 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003500323
NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter) SNV
Germline		 Chr2:31531374 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003607695
NM_000348.4(SRD5A2):c.547+1G>C SNV
Germline		 Chr2:31531370 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003607838
NM_000348.4(SRD5A2):c.281+2T>C SNV
Germline		 Chr2:31580618 Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003607921
NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter) SNV
Germline		 Chr2:31580882 Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003608508