SRD5A2 — 300 ClinVar variants
All ClinVar germline SRD5A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
57 Pathogenic · 22 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 14 Conflicting · 24 Benign · 5 Benign/Likely benign · 104 Likely benign · 60 Uncertain significance
Full SRD5A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 7
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SRD5A2 p.Arg145Trp
Pathogenic/Likely pathogenic
Multiple submitters
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Arg227Gln
Pathogenic/Likely pathogenic
Multiple submitters
SRD5A2-related disorder
-
SRD5A2 p.Asn193Ser
Pathogenic/Likely pathogenic
Multiple submitters
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Tyr128Cys
Pathogenic
Multiple submitters
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Ala228Gly
Likely pathogenic
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Ala65Thr
Pathogenic
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Ala69Ser
Pathogenic
No assertion criteria
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SRD5A2 p.Ala205Asp
Conflicting
Single submitter
Differences in sex development
-
SRD5A2 p.Ala51Thr
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Arg171Ser
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Gln56Arg
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Glu200Lys
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Gly66Arg
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Leu113Val
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Pro212Arg
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRD5A2 p.Arg233Lys Uncertain significance Single submitter
- SRD5A2 p.Asp143His Uncertain significance Single submitter
- SRD5A2 p.Asp143Val Uncertain significance Single submitter
-
SRD5A2 p.Cys119Arg
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Cys133Arg
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Glu135Lys
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- SRD5A2 p.Gly158Arg Uncertain significance Single submitter
-
SRD5A2 p.Gly191Arg
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Gly21Arg
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Gly77Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SRD5A2 p.His90Arg Uncertain significance Single submitter
-
SRD5A2 p.Leu111Ile
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Leu185Ser
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- SRD5A2 p.Leu224Val Uncertain significance Single submitter
-
SRD5A2 p.Met157Lys
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- SRD5A2 p.Phe153Leu Uncertain significance Single submitter
-
SRD5A2 p.Pro9Ser
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Ser14Asn
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Thr37Ala
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Thr95Ile
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- SRD5A2 p.Trp201Arg Uncertain significance Single submitter
-
SRD5A2 p.Tyr91Asp
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- SRD5A2 p.Val3Ile Uncertain significance Single submitter
-
SRD5A2 p.Gln56Pro
Uncertain significance
No assertion criteria
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Pro30Ser
Uncertain significance
No assertion criteria
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- SRD5A2 p.Tyr235His Uncertain significance No assertion criteria
Predictors split 8
The independent predictors disagree with each other — read with care.
-
SRD5A2 p.Arg168Cys
Benign/Likely benign
Multiple submitters
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- SRD5A2 p.Ala52Thr Likely pathogenic Single submitter
-
SRD5A2 p.Phe118Leu
Pathogenic
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Phe223Leu
Likely benign
Single submitter
SRD5A2-related disorder
-
SRD5A2 p.Phe234Leu
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Ser245Tyr
Conflicting
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Tyr128Asn
Uncertain significance
Single submitter
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
-
SRD5A2 p.Thr142Ile
Uncertain significance
No assertion criteria
SRD5A2-related disorder
All SRD5A2 variants
Pathogenic 57
- c.282-2A>G Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg103Ter Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg227Ter Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg246Trp Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gln126Arg Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gln6Ter Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gln71Ter Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Glu197Asp Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Glu57Gln Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly34Arg Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.His231Arg Multiple submitters SRD5A2-related disorder
- p.Leu20Pro Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Phe219fs Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Pro181Leu Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr128Cys Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Tyr235Phe Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.547+1G>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.699-1G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala192Thr Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala228Val Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala248Asp Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala28fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala28Leufs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala49fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala65Thr Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Arg105fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg145fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gln182Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gln4Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gln7Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Glu57Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly104Glu Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly196Arg Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly196Asp Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.His230fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.His230Pro Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu152fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu73fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Lys244fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Lys35fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Met1Thr Single submitter
- p.Phe118_Cys119insTer Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Phe118Leu Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Phe54Tyr Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ser39fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Thr187_Tyr188insTer Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Trp140fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Trp201Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Trp53Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr128Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr165fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Val27fs Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*66T>G No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala69Ser No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Met157del No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Phe252fs No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr26Ter No assertion criteria Micropenis
Pathogenic/Likely pathogenic 22
- c.698+1G>T Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala207Asp Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala228Thr Multiple submitters SRD5A2-related disorder
- p.Ala65Pro Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg145Trp Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Arg227Gln Multiple submitters SRD5A2-related disorder ⚠
- p.Arg246Gln Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Asn193Ser Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Glu197Lys Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly115Asp Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly183Ser Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly196Ser Multiple submitters SRD5A2-related disorder
- p.Gly203Ser Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.His162Pro Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.His232Arg Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu111fs Multiple submitters SRD5A2-related disorder
- p.Leu55Gln Multiple submitters SRD5A2-related disorder
- p.Leu55Pro Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Pro106fs Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Thr120Pro Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Thr208Ile Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr91His Multiple submitters SRD5A2-related disorder
Likely pathogenic 14
- c.281+2T>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.445+1G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.698+1G>A Single submitter SRD5A2-related disorder
- p.Ala228Gly Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Ala52Thr Single submitter ⚠
- p.Gly203Val Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu185Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ter255Gln Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr178Ter Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr188fs Single submitter SRD5A2-related disorder
- p.Tyr235Ter Single submitter SRD5A2-related disorder
- p.Tyr242Cys Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala12Glu No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr107Ter No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Conflicting classifications of pathogenicity 14
- c.548-2A>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala205Asp Single submitter Differences in sex development ⚠
- p.Ala51Thr Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Arg171Ser Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Arg70= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gln56Arg Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Gln7= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Glu200Lys Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Gly66Arg Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Leu113Val Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Leu226= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Phe234Leu Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Pro212Arg Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Ser245Tyr Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
Benign 24
- c.281+15T>C Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+20G>A Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.282-125G>T Multiple submitters
- c.548-18C>T Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1056G>C Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1273A>G Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1552G>A Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*224A>T Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*259T>C Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*43G>A Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*849A>G Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*88T>A Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*91C>T Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala49Thr Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+16T>C Single submitter
- c.548-17G>T Single submitter
- c.-55G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*372G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*90_*91del Single submitter
- p.Gly32Ser Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly32Val Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.His232= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ser147= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ser31Phe Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Benign/Likely benign 5
- c.548-13C>T Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.698+7T>G Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg168Cys Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Ile198= Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ser31fs Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Likely benign 104
- c.*1356A>C Multiple submitters 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala49= Multiple submitters SRD5A2-related disorder
- c.281+10T>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+11T>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+13C>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+16del Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+17G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+18C>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+18C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+19G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.281+19G>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.282-11G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.282-11G>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.282-13C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.282-13del Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.282-18C>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.445+11C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.445+15C>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.445+16del Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.445+18C>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.446-10_446-8del Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.446-15C>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.446-4C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.446-9T>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.547+11C>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.547+16C>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.547+17C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.547+19C>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.547+19C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.548-17G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.548-4G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.548-5C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.548-6A>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.548-6A>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.548-8G>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.548-8G>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.698+20C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.699-15T>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.699-18T>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.699-20A>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*981G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala134= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala205= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala207= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala24= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala28= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala44= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala51= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala62= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala65= Single submitter Inborn genetic diseases
- p.Ala69= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg103= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg145= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg168= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg179= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Asn160= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Cys5= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly104= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly13= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly196= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly32= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gly77= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.His90= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ile154= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu100= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu101= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu11= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu111= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu148= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu170= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu195= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu249= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu25= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu47= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu58= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu86= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu89= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Leu89Val Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Lys172= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Phe223Leu Single submitter SRD5A2-related disorder ⚠
- p.Phe229= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Phe54= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Phe61= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Phe76= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Pro106= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Pro212= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Pro64= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Pro9= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ser177= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ser210= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ser31= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Thr187= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Thr37= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Thr81= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr107= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr136= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr235= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr26= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr33= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr91= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr98= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Val18= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Val27= Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*2G>A No assertion criteria SRD5A2-related disorder
Uncertain significance 60
- c.548-3C>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.548-9T>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.699-3T>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.-20C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.-64A>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1133A>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*119C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*120G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1242A>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1290C>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1384A>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1422G>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1440T>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1492A>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*1504A>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*278C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*286A>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*307A>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*392A>C Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*510T>G Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*572C>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*614T>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*672T>A Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- c.*686G>T Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala207Val Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Ala215Val Single submitter
- p.Ala217= Single submitter
- p.Arg179Ser Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Arg233Lys Single submitter ⚠
- p.Asp143His Single submitter ⚠
- p.Asp143Val Single submitter ⚠
- p.Cys119Arg Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Cys133Arg Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Glu135Lys Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Gly158Arg Single submitter ⚠
- p.Gly191Arg Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Gly21Arg Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Gly77Glu Single submitter Inborn genetic diseases ⚠
- p.His90Arg Single submitter ⚠
- p.Leu111Ile Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Leu185Ser Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Leu224Val Single submitter ⚠
- p.Met157Lys Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Phe153Leu Single submitter ⚠
- p.Pro48Leu Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Pro64Leu Single submitter Inborn genetic diseases
- p.Pro9Ser Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Ser14Asn Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Thr37Ala Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Thr95Ile Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Trp201Arg Single submitter ⚠
- p.Tyr128Asn Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Tyr129Asp Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Tyr91Asp Single submitter 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Val3Ile Single submitter ⚠
- c.548-5C>G No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- p.Gln56Pro No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Pro30Ser No assertion criteria 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ⚠
- p.Thr142Ile No assertion criteria SRD5A2-related disorder ⚠
- p.Tyr235His No assertion criteria ⚠