Srd5a2 Variant Search Result - Rat Genome Database

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312 records found for search term Srd5a2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8643937	CV103279	single nucleotide variant	NM_000348.4(SRD5A2):c.-2C>A	not provided [RCV000083636]	not provided	2	31580902	31580902	Human		name
405285175	CV3202537	single nucleotide variant	NM_000348.4(SRD5A2):c.*2G>A	SRD5A2-related disorder [RCV003909797]	likely benign	2	31526194	31526194	Human		name , trait , alternate_id
11598017	CV286113	single nucleotide variant	NM_000348.4(SRD5A2):c.*88T>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000400378]\|not provided [RCV004709924]	benign\|likely benign	2	31526108	31526108	Human	1	name
11663058	CV286120	single nucleotide variant	NM_000348.3(SRD5A2):c.-64A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000392050]	uncertain significance	2	31580964	31580964	Human	1	name
11588707	CV289174	single nucleotide variant	NM_000348.3(SRD5A2):c.-55G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000305170]	benign\|uncertain significance	2	31580955	31580955	Human	1	name
11592039	CV289495	single nucleotide variant	NM_000348.4(SRD5A2):c.*91C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000334803]\|not provided [RCV004708612]	benign\|likely benign	2	31526105	31526105	Human	1	name
13511856	CV485696	single nucleotide variant	NM_000348.4(SRD5A2):c.*43G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582814]\|not provided [RCV004708963]	benign\|uncertain significance	2	31526153	31526153	Human	1	name
28887803	CV884790	single nucleotide variant	NM_000348.4(SRD5A2):c.-20C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138196]	uncertain significance	2	31580920	31580920	Human	1	name
8643965	CV103307	single nucleotide variant	NM_000348.4(SRD5A2):c.*259T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138518]\|not provided [RCV000083666]	benign\|not provided	2	31525937	31525937	Human	1	name
8643966	CV103308	single nucleotide variant	NM_000348.4(SRD5A2):c.*821A>T	not provided [RCV000083667]	not provided	2	31525375	31525375	Human		name
8643967	CV103309	single nucleotide variant	NM_000348.4(SRD5A2):c.*849A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000365985]\|not provided [RCV000083668]	benign\|likely benign\|not provided	2	31525347	31525347	Human	1	name
11646789	CV286097	single nucleotide variant	NM_000348.4(SRD5A2):c.*686G>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000272898]	uncertain significance	2	31525510	31525510	Human	1	name
11587135	CV286098	single nucleotide variant	NM_000348.4(SRD5A2):c.*224A>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000292787]\|not provided [RCV004708611]	benign\|likely benign	2	31525972	31525972	Human	1	name
11655712	CV289136	single nucleotide variant	NM_000348.4(SRD5A2):c.*614T>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000327922]	uncertain significance	2	31525582	31525582	Human	1	name
11662535	CV289487	single nucleotide variant	NM_000348.4(SRD5A2):c.*286A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000387092]	uncertain significance	2	31525910	31525910	Human	1	name
28887427	CV884780	single nucleotide variant	NM_000348.4(SRD5A2):c.*981G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138087]	likely benign	2	31525215	31525215	Human	1	name
28887429	CV884781	single nucleotide variant	NM_000348.4(SRD5A2):c.*672T>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138088]	uncertain significance	2	31525524	31525524	Human	1	name
28888842	CV884782	single nucleotide variant	NM_000348.4(SRD5A2):c.*572C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138512]	uncertain significance	2	31525624	31525624	Human	1	name
28888847	CV884783	single nucleotide variant	NM_000348.4(SRD5A2):c.*510T>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138513]	uncertain significance	2	31525686	31525686	Human	1	name
28888851	CV884784	single nucleotide variant	NM_000348.4(SRD5A2):c.*392A>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138514]	uncertain significance	2	31525804	31525804	Human	1	name
28888857	CV884785	single nucleotide variant	NM_000348.4(SRD5A2):c.*372G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138515]	benign	2	31525824	31525824	Human	1	name
28888862	CV884786	single nucleotide variant	NM_000348.4(SRD5A2):c.*307A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138516]	uncertain significance	2	31525889	31525889	Human	1	name
28888868	CV884787	single nucleotide variant	NM_000348.4(SRD5A2):c.*278C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138517]	uncertain significance	2	31525918	31525918	Human	1	name
28895992	CV884788	single nucleotide variant	NM_000348.4(SRD5A2):c.*120G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001141079]	uncertain significance	2	31526076	31526076	Human	1	name
28895994	CV884789	single nucleotide variant	NM_000348.4(SRD5A2):c.*119C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001141080]	uncertain significance	2	31526077	31526077	Human	1	name
8643936	CV103278	single nucleotide variant	NG_008365.2(SRD5A2):g.87047G>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000359892]\|not provided [RCV000083635]	benign\|not provided	2	31580962	31580962	Human	1	name
8643943	CV103285	single nucleotide variant	NM_000348.4(SRD5A2):c.445+8A>C	not provided [RCV000083643]	not provided	2	31533595	31533595	Human		name
8643958	CV103300	single nucleotide variant	NM_000348.4(SRD5A2):c.548-2A>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000686310]\|not provided [RCV000083658]	pathogenic\|likely pathogenic\|not provided	2	31529459	31529459	Human	1	name
8643968	CV103310	single nucleotide variant	NM_000348.4(SRD5A2):c.*1356A>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000297080]\|not provided [RCV000083669]	likely benign\|uncertain significance\|not provided	2	31524840	31524840	Human	1	name
8643969	CV103311	single nucleotide variant	NM_000348.4(SRD5A2):c.*1552G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000392570]\|not provided [RCV000083670]	benign\|not provided	2	31524644	31524644	Human	1	name
8643970	CV103312	single nucleotide variant	NM_000348.4(SRD5A2):c.*1843A>G	not provided [RCV000083671]	not provided	2	31524353	31524353	Human		name
127323417	CV1133699	single nucleotide variant	NM_000348.4(SRD5A2):c.548-4G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001505415]	likely benign	2	31529461	31529461	Human	1	name
155798445	CV1862006	single nucleotide variant	NM_000348.4(SRD5A2):c.699-3T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002471409]	uncertain significance	2	31526265	31526265	Human	1	name
401940682	CV2842163	single nucleotide variant	NM_000348.4(SRD5A2):c.699-1G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003459922]	pathogenic	2	31526263	31526263	Human	1	name
401940684	CV2842165	single nucleotide variant	NM_000348.4(SRD5A2):c.698+1G>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003459924]	pathogenic\|likely pathogenic	2	31529306	31529306	Human	1	name
11597303	CV286076	single nucleotide variant	NM_000348.4(SRD5A2):c.*1273A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000392562]\|not provided [RCV004708609]	benign\|likely benign	2	31524923	31524923	Human	1	name
11591293	CV286084	single nucleotide variant	NM_000348.4(SRD5A2):c.*1056G>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000327630]\|not provided [RCV004708610]	benign\|likely benign	2	31525140	31525140	Human	1	name
405125049	CV2869588	single nucleotide variant	NM_000348.4(SRD5A2):c.548-5C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501421]	likely benign	2	31529462	31529462	Human	1	name
405126405	CV2886960	single nucleotide variant	NM_000348.4(SRD5A2):c.698+7T>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501612]	benign	2	31529300	31529300	Human	1	name
11593979	CV289134	single nucleotide variant	NM_000348.4(SRD5A2):c.*1290C>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000354324]	uncertain significance	2	31524906	31524906	Human	1	name
11659423	CV289135	deletion	NM_000348.4(SRD5A2):c.*1152del	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000357843]	uncertain significance	2	31525044	31525044	Human	1	name
11645421	CV289485	single nucleotide variant	NM_000348.4(SRD5A2):c.*1133A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000265483]	uncertain significance	2	31525063	31525063	Human	1	name
405021014	CV2975484	single nucleotide variant	NM_000348.4(SRD5A2):c.547+1G>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607838]	pathogenic	2	31531370	31531370	Human	1	name
405020045	CV2977326	single nucleotide variant	NM_000348.4(SRD5A2):c.281+2T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607921]	likely pathogenic	2	31580618	31580618	Human	1	name
405024301	CV3010058	single nucleotide variant	NM_000348.4(SRD5A2):c.548-6A>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608298]	likely benign	2	31529463	31529463	Human	1	name
405025072	CV3025045	single nucleotide variant	NM_000348.4(SRD5A2):c.446-4C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608364]	likely benign	2	31531476	31531476	Human	1	name
405014138	CV3079965	single nucleotide variant	NM_000348.4(SRD5A2):c.548-6A>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607152]	likely benign	2	31529463	31529463	Human	1	name
405245739	CV3158098	single nucleotide variant	NM_000348.4(SRD5A2):c.548-8G>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003868633]	likely benign	2	31529465	31529465	Human	1	name
13510844	CV361962	single nucleotide variant	NM_000348.4(SRD5A2):c.548-9T>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000581602]	uncertain significance	2	31529466	31529466	Human	1	name
597916406	CV3771546	single nucleotide variant	NM_000348.4(SRD5A2):c.446-9T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005114477]	likely benign	2	31531481	31531481	Human	1	name
13512124	CV485698	single nucleotide variant	NM_000348.4(SRD5A2):c.548-5C>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583325]	uncertain significance	2	31529462	31529462	Human	1	name
13512314	CV485702	single nucleotide variant	NM_000348.4(SRD5A2):c.282-2A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583485]\|not provided [RCV001821708]	pathogenic\|conflicting interpretations of pathogenicity	2	31533768	31533768	Human	1	name
28900559	CV884773	single nucleotide variant	NM_000348.4(SRD5A2):c.*1504A>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142828]	uncertain significance	2	31524692	31524692	Human	1	name
28900562	CV884774	single nucleotide variant	NM_000348.4(SRD5A2):c.*1492A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142829]	uncertain significance	2	31524704	31524704	Human	1	name
28900564	CV884775	single nucleotide variant	NM_000348.4(SRD5A2):c.*1440T>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142830]	uncertain significance	2	31524756	31524756	Human	1	name
28900568	CV884776	single nucleotide variant	NM_000348.4(SRD5A2):c.*1422G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142831]	uncertain significance	2	31524774	31524774	Human	1	name
28900570	CV884777	single nucleotide variant	NM_000348.4(SRD5A2):c.*1384A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142832]	uncertain significance	2	31524812	31524812	Human	1	name
28900574	CV884778	single nucleotide variant	NM_000348.4(SRD5A2):c.*1290C>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142833]	uncertain significance	2	31524906	31524906	Human	1	name
28887423	CV884779	single nucleotide variant	NM_000348.4(SRD5A2):c.*1242A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138086]	uncertain significance	2	31524954	31524954	Human	1	name
8643952	CV103294	single nucleotide variant	NM_000348.4(SRD5A2):c.281+13C>G	not provided [RCV000083652]	not provided	2	31580607	31580607	Human		name
8643953	CV103295	single nucleotide variant	NM_000348.4(SRD5A2):c.281+15T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001516897]\|not provided [RCV000083653]\|not specified [RCV000254308]	benign\|not provided	2	31580605	31580605	Human	1	name
8643954	CV103296	single nucleotide variant	NM_000348.4(SRD5A2):c.281+20G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002055242]\|not provided [RCV000083654]	benign\|not provided	2	31580600	31580600	Human	1	name
8643955	CV103297	single nucleotide variant	NM_000348.4(SRD5A2):c.281+23G>T	not provided [RCV000083655]	not provided	2	31580597	31580597	Human		name
8643956	CV103298	single nucleotide variant	NM_000348.4(SRD5A2):c.281+37A>C	not provided [RCV000083656]	not provided	2	31580583	31580583	Human		name
8643957	CV103299	single nucleotide variant	NM_000348.4(SRD5A2):c.446-43A>T	not provided [RCV000083657]	not provided	2	31531515	31531515	Human		name
150505770	CV1254700	single nucleotide variant	NM_000348.4(SRD5A2):c.281+16T>C	not provided [RCV001678005]	benign	2	31580604	31580604	Human		name
150488510	CV1284034	single nucleotide variant	NM_000348.4(SRD5A2):c.548-17G>T	not provided [RCV001716115]	benign	2	31529474	31529474	Human		name
152073976	CV1556761	single nucleotide variant	NM_000348.4(SRD5A2):c.281+11T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002111843]	likely benign	2	31580609	31580609	Human	1	name
152129671	CV1610351	single nucleotide variant	NM_000348.4(SRD5A2):c.548-18C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002136768]\|not provided [RCV004709182]	benign	2	31529475	31529475	Human	1	name
405123393	CV2856840	deletion	NM_000348.4(SRD5A2):c.445+16del	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501195]	likely benign	2	31533587	31533587	Human	1	name
405123745	CV2867164	single nucleotide variant	NM_000348.4(SRD5A2):c.281+17G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501243]	likely benign	2	31580603	31580603	Human	1	name
405124154	CV2874742	single nucleotide variant	NM_000348.4(SRD5A2):c.446-15C>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501297]	likely benign	2	31531487	31531487	Human	1	name
405125689	CV2885445	single nucleotide variant	NM_000348.4(SRD5A2):c.445+11C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501519]	likely benign	2	31533592	31533592	Human	1	name
405126663	CV2893970	single nucleotide variant	NM_000348.4(SRD5A2):c.281+18C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501644]	likely benign	2	31580602	31580602	Human	1	name
405127038	CV2898500	single nucleotide variant	NM_000348.4(SRD5A2):c.281+10T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501688]	likely benign	2	31580610	31580610	Human	1	name
405128050	CV2902415	single nucleotide variant	NM_000348.4(SRD5A2):c.699-15T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501793]	likely benign	2	31526277	31526277	Human	1	name
405116250	CV2920834	single nucleotide variant	NM_000348.4(SRD5A2):c.282-13C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500161]	likely benign	2	31533779	31533779	Human	1	name
405118087	CV2932547	single nucleotide variant	NM_000348.4(SRD5A2):c.281+19G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500407]	likely benign	2	31580601	31580601	Human	1	name
405017636	CV2936297	single nucleotide variant	NM_000348.4(SRD5A2):c.281+18C>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607611]	likely benign	2	31580602	31580602	Human	1	name
405017984	CV2960623	single nucleotide variant	NM_000348.4(SRD5A2):c.281+19G>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607701]	likely benign	2	31580601	31580601	Human	1	name
405020558	CV2978406	single nucleotide variant	NM_000348.4(SRD5A2):c.282-11G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607975]	likely benign	2	31533777	31533777	Human	1	name
405026275	CV3037643	deletion	NM_000348.4(SRD5A2):c.281+16del	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608466]	likely benign	2	31580604	31580604	Human	1	name
405026456	CV3038416	deletion	NM_000348.4(SRD5A2):c.282-13del	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608481]	likely benign	2	31533779	31533779	Human	1	name
405027246	CV3050077	single nucleotide variant	NM_000348.4(SRD5A2):c.698+20C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608536]	likely benign	2	31529287	31529287	Human	1	name
405027042	CV3054164	single nucleotide variant	NM_000348.4(SRD5A2):c.547+19C>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608547]	likely benign	2	31531352	31531352	Human	1	name
405027432	CV3055280	single nucleotide variant	NM_000348.4(SRD5A2):c.547+19C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608576]	likely benign	2	31531352	31531352	Human	1	name
405028028	CV3067173	single nucleotide variant	NM_000348.4(SRD5A2):c.699-20A>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608622]	likely benign	2	31526282	31526282	Human	1	name
405014066	CV3071592	single nucleotide variant	NM_000348.4(SRD5A2):c.445+18C>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607145]	likely benign	2	31533585	31533585	Human	1	name
405014123	CV3079880	single nucleotide variant	NM_000348.4(SRD5A2):c.547+11C>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607150]	likely benign	2	31531360	31531360	Human	1	name
405014536	CV3080998	single nucleotide variant	NM_000348.4(SRD5A2):c.445+15C>G	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607192]	likely benign	2	31533588	31533588	Human	1	name
405153517	CV3135065	single nucleotide variant	NM_000348.4(SRD5A2):c.547+17C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003840177]	likely benign	2	31531354	31531354	Human	1	name
405226008	CV3142456	single nucleotide variant	NM_000348.4(SRD5A2):c.282-18C>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003847995]	likely benign	2	31533784	31533784	Human	1	name
405177025	CV3148574	single nucleotide variant	NM_000348.4(SRD5A2):c.699-18T>C	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003858351]	likely benign	2	31526280	31526280	Human	1	name
405076085	CV3156176	single nucleotide variant	NM_000348.4(SRD5A2):c.281+13C>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003851234]	likely benign	2	31580607	31580607	Human	1	name
405214893	CV3160633	single nucleotide variant	NM_000348.4(SRD5A2):c.282-11G>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003862695]	likely benign	2	31533777	31533777	Human	1	name
402465565	CV3177297	single nucleotide variant	NM_000348.4(SRD5A2):c.547+16C>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003872928]	likely benign	2	31531355	31531355	Human	1	name
597964954	CV3848187	single nucleotide variant	NM_000348.4(SRD5A2):c.548-17G>A	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005194067]	likely benign	2	31529474	31529474	Human	1	name
13526770	CV499918	single nucleotide variant	NM_000348.4(SRD5A2):c.548-13C>T	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500585]\|not specified [RCV000604584]	benign\|likely benign	2	31529470	31529470	Human	1	name
150448838	CV1270517	deletion	NM_000348.4(SRD5A2):c.90_91del	not provided [RCV001691655]	benign	2	31526105	31526106	Human		name
150449754	CV1275713	single nucleotide variant	NM_000348.4(SRD5A2):c.282-125G>T	not provided [RCV001708168]	benign	2	31533891	31533891	Human		name
11635076	CV286077	duplication	NM_000348.4(SRD5A2):c.1151_1152dup	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000305311]	uncertain significance	2	31525043	31525044	Human	1	name
151356108	CV1328872	single nucleotide variant	NM_000348.4(SRD5A2):c.21G>A (p.Gln7=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607428]\|not specified [RCV001822461]	likely benign\|uncertain significance	2	31580880	31580880	Human	1	name
405127951	CV2905967	single nucleotide variant	NM_000348.4(SRD5A2):c.15C>T (p.Cys5=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501782]	likely benign	2	31580886	31580886	Human	1	name
13512548	CV485701	microsatellite	NM_000348.4(SRD5A2):c.446-10_446-8del	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583822]	likely benign\|uncertain significance	2	31531480	31531482	Human		name
11559719	CV259735	single nucleotide variant	NM_000348.4(SRD5A2):c.2T>C (p.Met1Thr)	not provided [RCV000254818]	pathogenic	2	31580899	31580899	Human		name
405121608	CV2858035	single nucleotide variant	NM_000348.4(SRD5A2):c.81C>T (p.Val27=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500953]	likely benign	2	31580820	31580820	Human	1	name
405125964	CV2876608	single nucleotide variant	NM_000348.4(SRD5A2):c.33G>A (p.Leu11=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501407]	likely benign	2	31580868	31580868	Human	1	name
405126203	CV2882325	single nucleotide variant	NM_000348.4(SRD5A2):c.39C>A (p.Gly13=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501558]	likely benign	2	31580862	31580862	Human	1	name
405127830	CV2895350	single nucleotide variant	NM_000348.4(SRD5A2):c.84G>A (p.Ala28=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501766]	likely benign	2	31580817	31580817	Human	1	name
405115716	CV2909266	single nucleotide variant	NM_000348.4(SRD5A2):c.75G>A (p.Leu25=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500062]	likely benign	2	31580826	31580826	Human	1	name
405117670	CV2928609	single nucleotide variant	NM_000348.4(SRD5A2):c.81C>G (p.Val27=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500331]	likely benign	2	31580820	31580820	Human	1	name
405018510	CV2955935	single nucleotide variant	NM_000348.4(SRD5A2):c.72C>G (p.Ala24=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607751]	likely benign	2	31580829	31580829	Human	1	name
405018857	CV2974298	single nucleotide variant	NM_000348.4(SRD5A2):c.96C>A (p.Gly32=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607783]	likely benign	2	31580805	31580805	Human	1	name
405027940	CV3060005	single nucleotide variant	NM_000348.4(SRD5A2):c.78C>T (p.Tyr26=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608615]\|SRD5A2-related disorder [RCV003901339]	likely benign	2	31580823	31580823	Human	1	name , trait , alternate_id
405203691	CV3116846	single nucleotide variant	NM_000348.4(SRD5A2):c.54C>T (p.Val18=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003822330]	likely benign	2	31580847	31580847	Human	1	name
405135059	CV3130508	single nucleotide variant	NM_000348.4(SRD5A2):c.99C>T (p.Tyr33=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003838741]	likely benign	2	31580802	31580802	Human	1	name
405217448	CV3139516	single nucleotide variant	NM_000348.4(SRD5A2):c.93C>T (p.Ser31=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003824207]	likely benign	2	31580808	31580808	Human	1	name
616934222	CV4012211	single nucleotide variant	NM_000348.4(SRD5A2):c.7G>A (p.Val3Ile)	not specified [RCV005409245]	uncertain significance	2	31580894	31580894	Human		name
8643938	CV103280	single nucleotide variant	NM_000348.4(SRD5A2):c.13T>C (p.Cys5Arg)	not provided [RCV000083637]	not provided	2	31580888	31580888	Human		name
8643942	CV103284	single nucleotide variant	NM_000348.4(SRD5A2):c.162C>T (p.Phe54=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607236]\|not provided [RCV000083642]	likely benign\|not provided	2	31580739	31580739	Human	1	name
8643944	CV103286	single nucleotide variant	NM_000348.4(SRD5A2):c.183C>T (p.Phe61=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002055241]\|not provided [RCV000083644]	likely benign\|not provided	2	31580718	31580718	Human	1	name
8643945	CV103287	single nucleotide variant	NM_000348.4(SRD5A2):c.207C>T (p.Ala69=)	not provided [RCV000083645]	not provided	2	31580694	31580694	Human		name
8643947	CV103289	single nucleotide variant	NM_000348.4(SRD5A2):c.210G>A (p.Arg70=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001453334]\|not provided [RCV000083647]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	31580691	31580691	Human	1	name
8643949	CV103291	single nucleotide variant	NM_000348.4(SRD5A2):c.258C>G (p.Leu86=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003764773]\|not provided [RCV000083649]	likely benign\|not provided	2	31580643	31580643	Human	1	name
8643951	CV103293	single nucleotide variant	NM_000348.4(SRD5A2):c.273C>T (p.Tyr91=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500503]\|not provided [RCV000083651]	likely benign\|not provided	2	31580628	31580628	Human	1	name
127286560	CV1133700	single nucleotide variant	NM_000348.4(SRD5A2):c.111G>A (p.Thr37=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001494408]	likely benign	2	31580790	31580790	Human	1	name
151746816	CV1485258	single nucleotide variant	NM_000348.4(SRD5A2):c.25C>T (p.Pro9Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002006403]	uncertain significance	2	31580876	31580876	Human	1	name
155797538	CV1859395	single nucleotide variant	NM_000348.4(SRD5A2):c.10C>T (p.Gln4Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002465022]	pathogenic	2	31580891	31580891	Human	1	name
405121601	CV2858034	single nucleotide variant	NM_000348.4(SRD5A2):c.132T>A (p.Ala44=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500952]	likely benign	2	31580769	31580769	Human	1	name
11635832	CV286118	duplication	NM_000348.4(SRD5A2):c.90dup (p.Ser31fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000401233]	benign	2	31580810	31580811	Human	1	name
405122302	CV2865345	single nucleotide variant	NM_000348.4(SRD5A2):c.270T>C (p.His90=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501045]	likely benign	2	31580631	31580631	Human	1	name
405124648	CV2872351	single nucleotide variant	NM_000348.4(SRD5A2):c.228C>T (p.Phe76=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501359]	likely benign	2	31580673	31580673	Human	1	name
405126333	CV2889220	single nucleotide variant	NM_000348.4(SRD5A2):c.231G>A (p.Gly77=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501574]	likely benign	2	31580670	31580670	Human	1	name
405126795	CV2890602	single nucleotide variant	NM_000348.4(SRD5A2):c.192C>T (p.Pro64=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501660]	likely benign	2	31580709	31580709	Human	1	name
405127972	CV2902148	single nucleotide variant	NM_000348.4(SRD5A2):c.111G>C (p.Thr37=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501784]	likely benign	2	31580790	31580790	Human	1	name
405116053	CV2914156	single nucleotide variant	NM_000348.4(SRD5A2):c.147C>T (p.Ala49=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500133]\|SRD5A2-related disorder [RCV003984390]	likely benign	2	31580754	31580754	Human	1	name , trait , alternate_id
405025575	CV3029479	single nucleotide variant	NM_000348.4(SRD5A2):c.139C>T (p.Leu47=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608408]	likely benign	2	31580762	31580762	Human	1	name
405026755	CV3039389	single nucleotide variant	NM_000348.4(SRD5A2):c.192C>G (p.Pro64=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608503]	likely benign	2	31580709	31580709	Human	1	name
405026820	CV3039511	single nucleotide variant	NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608508]	pathogenic	2	31580882	31580882	Human	1	name
405013427	CV3063077	single nucleotide variant	NM_000348.4(SRD5A2):c.153C>T (p.Ala51=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607079]	likely benign	2	31580748	31580748	Human	1	name
402498806	CV3170360	single nucleotide variant	NM_000348.4(SRD5A2):c.243G>T (p.Thr81=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003877732]	likely benign	2	31580658	31580658	Human	1	name
405230555	CV3176991	single nucleotide variant	NM_000348.4(SRD5A2):c.172C>T (p.Leu58=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003865182]	likely benign	2	31580729	31580729	Human	1	name
405778556	CV3330480	single nucleotide variant	NM_000348.4(SRD5A2):c.195G>A (p.Ala65=)	Inborn genetic diseases [RCV004458248]	likely benign	2	31580706	31580706	Human	1	name
597955403	CV3754426	single nucleotide variant	NM_000348.4(SRD5A2):c.294C>T (p.Tyr98=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005080276]	likely benign	2	31533754	31533754	Human	1	name
597942813	CV3816329	single nucleotide variant	NM_000348.4(SRD5A2):c.267A>G (p.Leu89=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005159390]	likely benign	2	31580634	31580634	Human	1	name
597899601	CV3835218	single nucleotide variant	NM_000348.4(SRD5A2):c.174G>A (p.Leu58=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005180938]	likely benign	2	31580727	31580727	Human	1	name
13213738	CV428054	single nucleotide variant	NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000500379]\|SRD5A2-related disorder [RCV003403177]\|not provided [RCV000578706]	pathogenic	2	31580885	31580885	Human	1	name , trait , alternate_id
8643962	CV103304	single nucleotide variant	NM_000348.4(SRD5A2):c.585C>T (p.Leu195=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607237]\|not provided [RCV000083662]	likely benign\|not provided	2	31529420	31529420	Human	1	name
8643963	CV103305	single nucleotide variant	NM_000348.4(SRD5A2):c.696T>C (p.His232=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607238]\|not provided [RCV000083664]	benign\|not provided	2	31529309	31529309	Human	1	name
127312251	CV1154137	single nucleotide variant	NM_000348.4(SRD5A2):c.441C>T (p.Ser147=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001518885]\|SRD5A2-related disorder [RCV003980572]	benign\|likely benign	2	31533607	31533607	Human	1	name , trait , alternate_id
151354908	CV1327975	single nucleotide variant	NM_000348.4(SRD5A2):c.651A>G (p.Ala217=)	not specified [RCV001819451]	uncertain significance	2	31529354	31529354	Human		name
151879489	CV1490864	single nucleotide variant	NM_000348.4(SRD5A2):c.61G>C (p.Gly21Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001940814]	uncertain significance	2	31580840	31580840	Human	1	name
8596093	CV18389	single nucleotide variant	NM_000348.4(SRD5A2):c.78C>G (p.Tyr26Ter)	Micropenis [RCV000003514]	pathogenic	2	31580823	31580823	Human	2	name
156072349	CV2065822	single nucleotide variant	NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002847112]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	31529327	31529327	Human	1	name
401944456	CV2831738	single nucleotide variant	NM_000348.4(SRD5A2):c.35C>A (p.Ala12Glu)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003445401]	likely pathogenic	2	31580866	31580866	Human	1	name
405124895	CV2869247	single nucleotide variant	NM_000348.4(SRD5A2):c.442T>C (p.Leu148=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501394]	likely benign	2	31533606	31533606	Human	1	name
405124163	CV2874788	single nucleotide variant	NM_000348.4(SRD5A2):c.307C>A (p.Arg103=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501298]	likely benign	2	31533741	31533741	Human	1	name
405127313	CV2882990	single nucleotide variant	NM_000348.4(SRD5A2):c.303C>T (p.Leu101=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501585]	likely benign	2	31533745	31533745	Human	1	name
405126195	CV2886195	single nucleotide variant	NM_000348.4(SRD5A2):c.621C>T (p.Ala207=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501557]	likely benign	2	31529384	31529384	Human	1	name
405126098	CV2889106	single nucleotide variant	NM_000348.4(SRD5A2):c.94G>A (p.Gly32Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501544]	benign	2	31580807	31580807	Human	1	name
405116184	CV2910084	single nucleotide variant	NM_000348.4(SRD5A2):c.588T>G (p.Gly196=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500151]	likely benign	2	31529417	31529417	Human	1	name
405122003	CV2933869	single nucleotide variant	NM_000348.4(SRD5A2):c.462T>C (p.Ile154=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501004]	likely benign	2	31531456	31531456	Human	1	name
405017626	CV2936451	single nucleotide variant	NM_000348.4(SRD5A2):c.402T>C (p.Ala134=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607612]	likely benign	2	31533646	31533646	Human	1	name
405017678	CV2942941	single nucleotide variant	NM_000348.4(SRD5A2):c.687T>C (p.Phe229=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607607]	likely benign	2	31529318	31529318	Human	1	name
405017767	CV2948851	single nucleotide variant	NM_000348.4(SRD5A2):c.333C>T (p.Leu111=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607679]	likely benign	2	31533715	31533715	Human	1	name
405018315	CV2961913	single nucleotide variant	NM_000348.4(SRD5A2):c.630C>T (p.Ser210=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607733]	likely benign	2	31529375	31529375	Human	1	name
405018689	CV2963128	single nucleotide variant	NM_000348.4(SRD5A2):c.705C>T (p.Tyr235=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607767]	likely benign	2	31526256	31526256	Human	1	name
405018814	CV2964040	single nucleotide variant	NM_000348.4(SRD5A2):c.636A>G (p.Pro212=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607779]	likely benign	2	31529369	31529369	Human	1	name
405023015	CV3003528	single nucleotide variant	NM_000348.4(SRD5A2):c.408C>T (p.Tyr136=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608185]	likely benign	2	31533640	31533640	Human	1	name
405024475	CV3007193	single nucleotide variant	NM_000348.4(SRD5A2):c.321T>C (p.Tyr107=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608313]	likely benign	2	31533727	31533727	Human	1	name
405024111	CV3009492	single nucleotide variant	NM_000348.4(SRD5A2):c.92C>T (p.Ser31Phe)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608282]	benign	2	31580809	31580809	Human	1	name
405024659	CV3011015	single nucleotide variant	NM_000348.4(SRD5A2):c.747T>A (p.Leu249=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608328]	likely benign	2	31526214	31526214	Human	1	name
405023762	CV3015714	single nucleotide variant	NM_000348.4(SRD5A2):c.312G>A (p.Gly104=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608250]	likely benign	2	31533736	31533736	Human	1	name
405025006	CV3028156	deletion	NM_000348.4(SRD5A2):c.144del (p.Ala49fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608358]	pathogenic	2	31580757	31580757	Human	1	name
405026785	CV3039420	single nucleotide variant	NM_000348.4(SRD5A2):c.561G>A (p.Thr187=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608505]	likely benign	2	31529444	31529444	Human	1	name
405027107	CV3047399	single nucleotide variant	NM_000348.4(SRD5A2):c.531C>T (p.Ser177=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608552]	likely benign	2	31531387	31531387	Human	1	name
405028275	CV3053064	deletion	NM_000348.4(SRD5A2):c.102del (p.Lys35fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608522]	pathogenic	2	31580799	31580799	Human	1	name
405027742	CV3056266	single nucleotide variant	NM_000348.4(SRD5A2):c.480C>T (p.Asn160=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608600]	likely benign	2	31531438	31531438	Human	1	name
405012828	CV3061306	single nucleotide variant	NM_000348.4(SRD5A2):c.535A>C (p.Arg179=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607023]	likely benign	2	31531383	31531383	Human	1	name
405013879	CV3079568	single nucleotide variant	NM_000348.4(SRD5A2):c.318T>C (p.Pro106=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607127]	likely benign	2	31533730	31533730	Human	1	name
405132794	CV3130126	single nucleotide variant	NM_000348.4(SRD5A2):c.561G>C (p.Thr187=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003838549]	likely benign	2	31529444	31529444	Human	1	name
402478571	CV3170284	single nucleotide variant	NM_000348.4(SRD5A2):c.615C>T (p.Ala205=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003875672]	likely benign	2	31529390	31529390	Human	1	name
402510983	CV3182220	single nucleotide variant	NM_000348.4(SRD5A2):c.504C>T (p.Arg168=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003878874]	likely benign	2	31531414	31531414	Human	1	name
408394133	CV3526370	single nucleotide variant	NM_000348.4(SRD5A2):c.88C>T (p.Pro30Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV004771815]	uncertain significance	2	31580813	31580813	Human	1	name
597924471	CV3777940	single nucleotide variant	NM_000348.4(SRD5A2):c.516G>A (p.Lys172=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005130664]	likely benign	2	31531402	31531402	Human	1	name
597930724	CV3780261	single nucleotide variant	NM_000348.4(SRD5A2):c.435G>A (p.Arg145=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005116581]	likely benign	2	31533613	31533613	Human	1	name
597848749	CV3824147	single nucleotide variant	NM_000348.4(SRD5A2):c.300G>A (p.Leu100=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005173386]	likely benign	2	31533748	31533748	Human	1	name
597907314	CV3842985	single nucleotide variant	NM_000348.4(SRD5A2):c.433C>A (p.Arg145=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005182293]	likely benign	2	31533615	31533615	Human	1	name
597831678	CV3863904	single nucleotide variant	NM_000348.4(SRD5A2):c.41G>A (p.Ser14Asn)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005208318]	uncertain significance	2	31580860	31580860	Human	1	name
13478491	CV450986	single nucleotide variant	NM_000348.4(SRD5A2):c.594C>T (p.Ile198=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000527644]\|not provided [RCV001644629]\|not specified [RCV001821521]	benign\|likely benign	2	31529411	31529411	Human	1	name
13511753	CV485699	single nucleotide variant	NM_000348.4(SRD5A2):c.537G>A (p.Arg179=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582721]	uncertain significance	2	31531381	31531381	Human	1	name
13512430	CV485707	single nucleotide variant	NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583658]\|not provided [RCV001591351]	pathogenic	2	31580842	31580842	Human	1	name
13704455	CV538628	deletion	NM_000348.4(SRD5A2):c.218del (p.Leu73fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000660881]	pathogenic	2	31580683	31580683	Human	1	name
15154070	CV747597	single nucleotide variant	NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001511581]	benign	2	31580806	31580806	Human	1	name
8630328	CV85483	single nucleotide variant	NM_000348.4(SRD5A2):c.510C>T (p.Leu170=)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607035]	likely benign\|not provided	2	31531408	31531408	Human	1	name
8643931	CV103273	deletion	NM_000348.4(SRD5A2):c.656del (p.Phe219fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500502]\|not provided [RCV000083630]	pathogenic\|not provided	2	31529349	31529349	Human	1	name
8643940	CV103282	single nucleotide variant	NM_000348.4(SRD5A2):c.143C>G (p.Pro48Arg)	not provided [RCV000083639]	not provided	2	31580758	31580758	Human		name
8643941	CV103283	single nucleotide variant	NM_000348.4(SRD5A2):c.151G>A (p.Ala51Thr)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV004767064]\|not provided [RCV000083641]	likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	2	31580750	31580750	Human	1	name
8643946	CV103288	single nucleotide variant	NM_000348.4(SRD5A2):c.209G>A (p.Arg70Gln)	not provided [RCV000083646]	not provided	2	31580692	31580692	Human		name
8643948	CV103290	single nucleotide variant	NM_000348.4(SRD5A2):c.214C>T (p.Pro72Ser)	not provided [RCV000083648]	not provided	2	31580687	31580687	Human		name
8643950	CV103292	single nucleotide variant	NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001516898]\|not provided [RCV000083650]\|not specified [RCV000250955]	benign\|not provided	2	31580636	31580636	Human	1	name
150418414	CV1196911	single nucleotide variant	NM_000348.4(SRD5A2):c.154G>A (p.Ala52Thr)	not provided [RCV001576730]	likely pathogenic	2	31580747	31580747	Human		name
150528317	CV1288224	single nucleotide variant	NM_000348.4(SRD5A2):c.169G>T (p.Glu57Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001726693]	pathogenic	2	31580732	31580732	Human	1	name
8596083	CV18378	single nucleotide variant	NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003503]\|Abnormality of the genitourinary system [RCV001813943]\|not provided [RCV001269601]	pathogenic\|likely pathogenic	2	31580737	31580737	Human	2	name
8557369	CV18382	deletion	NM_000348.4(SRD5A2):c.753del (p.Phe252fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003507]	pathogenic	2	31526208	31526208	Human	1	name
8596090	CV18386	single nucleotide variant	NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000531645]\|SRD5A2 POLYMORPHISM [RCV000003511]\|SRD5A2-related disorder [RCV004755706]\|not provided [RCV000083640]	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	31580756	31580756	Human	10	name , trait , alternate_id
8596090	CV18386	single nucleotide variant	NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000531645]\|SRD5A2 POLYMORPHISM [RCV000003511]\|SRD5A2-related disorder [RCV004755706]\|not provided [RCV000083640]	benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	31580756	31580757	Human	10	name , trait , alternate_id
155915278	CV2339095	single nucleotide variant	NM_000348.4(SRD5A2):c.191C>T (p.Pro64Leu)	Inborn genetic diseases [RCV002968585]	uncertain significance	2	31580710	31580710	Human	1	name
401738676	CV2738342	single nucleotide variant	NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003777292]\|not specified [RCV003317732]	pathogenic\|likely pathogenic\|uncertain significance	2	31580705	31580705	Human	1	name
405123010	CV2859984	single nucleotide variant	NM_000348.4(SRD5A2):c.284C>T (p.Thr95Ile)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501148]	uncertain significance	2	31533764	31533764	Human	1	name
11657302	CV286117	single nucleotide variant	NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000340428]\|Inborn genetic diseases [RCV002519968]	uncertain significance	2	31580671	31580671	Human	2	name
11585421	CV289161	single nucleotide variant	NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000280741]	benign	2	31580637	31580637	Human	1	name
405127015	CV2898475	deletion	NM_000348.4(SRD5A2):c.418del (p.Trp140fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501685]	pathogenic	2	31533630	31533630	Human	1	name
405127023	CV2898476	single nucleotide variant	NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501686]\|not specified [RCV004701727]	pathogenic\|uncertain significance	2	31580734	31580734	Human	1	name
405127030	CV2898477	single nucleotide variant	NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501687]	pathogenic	2	31580743	31580743	Human	1	name
405116998	CV2911539	deletion	NM_000348.4(SRD5A2):c.687del (p.His230fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500265]	pathogenic	2	31529318	31529318	Human	1	name
405025475	CV3022727	duplication	NM_000348.4(SRD5A2):c.431dup (p.Arg145fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608399]	pathogenic	2	31533616	31533617	Human	1	name
405012969	CV3061558	deletion	NM_000348.4(SRD5A2):c.312del (p.Arg105fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607036]	pathogenic	2	31533736	31533736	Human	1	name
12742834	CV359355	single nucleotide variant	NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002523914]\|not provided [RCV000414643]	pathogenic	2	31580801	31580801	Human	1	name
12887509	CV390701	single nucleotide variant	NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000469192]	pathogenic	2	31580690	31580690	Human	1	name
617152468	CV4018015	single nucleotide variant	NM_000348.4(SRD5A2):c.193G>A (p.Ala65Thr)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005417805]	pathogenic	2	31580708	31580708	Human	1	name
13510809	CV485703	single nucleotide variant	NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000581450]\|not specified [RCV004767421]	pathogenic\|uncertain significance	2	31580630	31580630	Human	1	name
13511650	CV485704	single nucleotide variant	NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582682]\|not provided [RCV001821707]	pathogenic\|likely pathogenic	2	31580630	31580630	Human	1	name
13512527	CV485705	single nucleotide variant	NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583779]	pathogenic	2	31580696	31580696	Human	1	name
13511275	CV485706	single nucleotide variant	NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582093]	pathogenic	2	31580732	31580732	Human	1	name
13705902	CV540523	deletion	NM_000348.4(SRD5A2):c.729del (p.Lys244fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000664298]	pathogenic	2	31526232	31526232	Human	1	name
13820865	CV560619	single nucleotide variant	NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000695133]	uncertain significance	2	31580758	31580758	Human	1	name
26888637	CV818724	single nucleotide variant	NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001030762]	pathogenic	2	31580801	31580801	Human	1	name
38464570	CV961596	deletion	NM_000348.4(SRD5A2):c.317del (p.Pro106fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001249654]	pathogenic\|likely pathogenic	2	31533731	31533731	Human	1	name
40903895	CV976228	single nucleotide variant	NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500674]\|not provided [RCV001269740]	pathogenic\|likely pathogenic	2	31580708	31580708	Human	1	name
40904273	CV976229	single nucleotide variant	NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002272440]\|not provided [RCV001270011]	pathogenic\|likely pathogenic	2	31580737	31580737	Human	1	name
8643959	CV103301	single nucleotide variant	NM_000348.4(SRD5A2):c.550G>C (p.Gly184Arg)	not provided [RCV000083659]	not provided	2	31529455	31529455	Human		name
8643960	CV103302	single nucleotide variant	NM_000348.4(SRD5A2):c.560C>T (p.Thr187Met)	not provided [RCV000083660]	not provided	2	31529445	31529445	Human		name
8643961	CV103303	single nucleotide variant	NM_000348.4(SRD5A2):c.582C>G (p.Phe194Leu)	not provided [RCV000083661]	not provided	2	31529423	31529423	Human		name
8643964	CV103306	single nucleotide variant	NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001088179]\|not provided [RCV000083665]\|not specified [RCV003317085]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	31526259	31526259	Human	1	name
150528320	CV1288227	single nucleotide variant	NM_000348.4(SRD5A2):c.589G>A (p.Glu197Lys)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001726695]	pathogenic	2	31529416	31529416	Human	1	name
151790376	CV1397243	single nucleotide variant	NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001951989]	uncertain significance	2	31531381	31531381	Human	1	name
151852036	CV1409064	single nucleotide variant	NM_000348.4(SRD5A2):c.331C>A (p.Leu111Ile)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001937485]	uncertain significance	2	31533717	31533717	Human	1	name
8596082	CV18376	single nucleotide variant	NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003501]\|not provided [RCV001574452]	pathogenic	2	31526225	31526225	Human	1	name
8596084	CV18379	single nucleotide variant	NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003504]	pathogenic\|likely pathogenic	2	31533704	31533704	Human	1	name
8596085	CV18380	single nucleotide variant	NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003505]\|SRD5A2-related disorder [RCV004755704]	pathogenic	2	31531371	31531371	Human	1	name , trait , alternate_id
8596086	CV18381	single nucleotide variant	NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003506]	pathogenic	2	31529326	31529326	Human	1	name
8596087	CV18383	single nucleotide variant	NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003508]\|not provided [RCV001270015]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	31529323	31529323	Human	1	name
8596088	CV18384	single nucleotide variant	NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003509]\|SRD5A2-related disorder [RCV004755705]\|not provided [RCV001269804]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	31529419	31529419	Human	1	name , trait , alternate_id
8596089	CV18385	single nucleotide variant	NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003510]\|not provided [RCV001552751]	pathogenic	2	31529313	31529313	Human	1	name
8596091	CV18387	single nucleotide variant	NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003512]	pathogenic	2	31529370	31529370	Human	1	name
8596092	CV18388	single nucleotide variant	NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003513]	pathogenic	2	31529414	31529414	Human	1	name
8596094	CV18390	single nucleotide variant	NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000288398]\|Autism spectrum disorder [RCV003313913]\|Micropenis [RCV000003515]\|SRD5A2-related disorder [RCV003944795]\|not provided [RCV000083663]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	2	31529325	31529325	Human	5	name , trait , alternate_id
156396506	CV2012389	single nucleotide variant	NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002725597]	pathogenic\|conflicting interpretations of pathogenicity	2	31531405	31531405	Human	1	name
156216002	CV2015240	single nucleotide variant	NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002700816]	uncertain significance	2	31533666	31533666	Human	1	name
156010446	CV2075529	single nucleotide variant	NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV002843842]	uncertain significance	2	31533645	31533645	Human	1	name
243049600	CV2416991	single nucleotide variant	NM_000348.4(SRD5A2):c.703T>C (p.Tyr235His)	not specified [RCV003151663]	uncertain significance	2	31526258	31526258	Human		name
329847460	CV2524296	single nucleotide variant	NM_000348.4(SRD5A2):c.428A>T (p.Asp143Val)	not provided [RCV003227188]	uncertain significance	2	31533620	31533620	Human		name
401738678	CV2738343	single nucleotide variant	NM_000348.4(SRD5A2):c.683C>G (p.Ala228Gly)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003317733]	likely pathogenic	2	31529322	31529322	Human	1	name
401867370	CV2748893	single nucleotide variant	NM_000348.4(SRD5A2):c.601T>A (p.Trp201Arg)	not specified [RCV003331715]	uncertain significance	2	31529404	31529404	Human		name
401867639	CV2749002	single nucleotide variant	NM_000348.4(SRD5A2):c.698G>A (p.Arg233Lys)	not specified [RCV003331826]	uncertain significance	2	31529307	31529307	Human		name
401910921	CV2815661	single nucleotide variant	NM_000348.4(SRD5A2):c.427G>C (p.Asp143His)	not provided [RCV003425567]	uncertain significance	2	31533621	31533621	Human		name
401940677	CV2842158	deletion	NM_000348.4(SRD5A2):c.80_87del (p.Val27fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003459917]	pathogenic	2	31580814	31580821	Human	1	name
401940678	CV2842159	single nucleotide variant	NM_000348.4(SRD5A2):c.311G>A (p.Gly104Glu)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003459918]	pathogenic	2	31533737	31533737	Human	1	name
401940679	CV2842160	single nucleotide variant	NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003459919]	pathogenic	2	31533665	31533665	Human	1	name
401940680	CV2842161	single nucleotide variant	NM_000348.4(SRD5A2):c.574G>A (p.Ala192Thr)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003459920]	pathogenic	2	31529431	31529431	Human	1	name
401940681	CV2842162	single nucleotide variant	NM_000348.4(SRD5A2):c.587G>A (p.Gly196Asp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003459921]	pathogenic	2	31529418	31529418	Human	1	name
401940685	CV2842166	single nucleotide variant	NM_000348.4(SRD5A2):c.743C>A (p.Ala248Asp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003459925]	pathogenic	2	31526218	31526218	Human	1	name
405121403	CV2864287	single nucleotide variant	NM_000348.4(SRD5A2):c.614C>A (p.Ala205Asp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500928]	uncertain significance	2	31529391	31529391	Human	1	name
405125996	CV2880055	single nucleotide variant	NM_000348.4(SRD5A2):c.433C>T (p.Arg145Trp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501403]\|not provided [RCV005220746]	pathogenic\|likely pathogenic	2	31533615	31533615	Human	1	name
405127005	CV2898474	single nucleotide variant	NM_000348.4(SRD5A2):c.689A>C (p.His230Pro)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501684]	pathogenic	2	31529316	31529316	Human	1	name
405127142	CV2901360	deletion	NM_000348.4(SRD5A2):c.82_88del (p.Ala28fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003501702]	pathogenic	2	31580813	31580819	Human	1	name
405117614	CV2931513	single nucleotide variant	NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500323]	pathogenic	2	31529403	31529403	Human	1	name
405017921	CV2956944	single nucleotide variant	NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003607695]	pathogenic	2	31531374	31531374	Human	1	name
404995408	CV3129217	single nucleotide variant	NM_000348.4(SRD5A2):c.571G>A (p.Gly191Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003827606]	uncertain significance	2	31529434	31529434	Human	1	name
405274298	CV3211638	single nucleotide variant	NM_000348.4(SRD5A2):c.669C>G (p.Phe223Leu)	SRD5A2-related disorder [RCV003951460]	likely benign	2	31529336	31529336	Human		name , trait , alternate_id
408366417	CV3510086	single nucleotide variant	NM_000348.4(SRD5A2):c.425C>T (p.Thr142Ile)	SRD5A2-related disorder [RCV004756696]	uncertain significance	2	31533623	31533623	Human		name , trait , alternate_id
596924804	CV3536756	single nucleotide variant	NM_000348.4(SRD5A2):c.620C>T (p.Ala207Val)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV004785749]	uncertain significance	2	31529385	31529385	Human	1	name
12742538	CV359421	single nucleotide variant	NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500527]\|not provided [RCV000413891]	pathogenic	2	31531376	31531376	Human	1	name
12742163	CV359429	single nucleotide variant	NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000545602]\|not provided [RCV000413020]	pathogenic	2	31533671	31533671	Human	1	name
598199552	CV3892563	single nucleotide variant	NM_000348.4(SRD5A2):c.457T>C (p.Phe153Leu)	not provided [RCV005254396]	uncertain significance	2	31531461	31531461	Human		name
13213092	CV428053	single nucleotide variant	NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001446958]\|not provided [RCV000873320]\|not specified [RCV000499604]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	31526227	31526227	Human	1	name
13437567	CV434112	single nucleotide variant	NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000508957]	likely pathogenic	2	31526236	31526236	Human	1	name
13482535	CV450852	single nucleotide variant	NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000529458]\|See cases [RCV004584395]	pathogenic	2	31526257	31526257	Human	1	name
13485337	CV450859	single nucleotide variant	NM_000348.4(SRD5A2):c.695A>G (p.His232Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000553178]	pathogenic\|likely pathogenic\|uncertain significance	2	31529310	31529310	Human	1	name
13474522	CV450861	single nucleotide variant	NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000548299]	pathogenic\|likely pathogenic\|uncertain significance	2	31529382	31529382	Human	1	name
13493242	CV450863	single nucleotide variant	NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000535535]	pathogenic\|likely pathogenic	2	31529398	31529398	Human	1	name
13495785	CV450864	single nucleotide variant	NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001519907]\|not provided [RCV000537388]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	31533711	31533711	Human	1	name
13470884	CV451158	single nucleotide variant	NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000546486]\|SRD5A2-related disorder [RCV004755953]	pathogenic\|likely pathogenic	2	31526224	31526224	Human	1	name , trait , alternate_id
13500863	CV451161	single nucleotide variant	NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000540681]	pathogenic\|likely pathogenic	2	31529322	31529322	Human	1	name
13493164	CV451163	single nucleotide variant	NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000557983]	uncertain significance	2	31533663	31533663	Human	1	name
13491578	CV451173	single nucleotide variant	NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000534325]\|not provided [RCV001269600]	pathogenic\|likely pathogenic	2	31529427	31529427	Human	1	name
13512052	CV485697	single nucleotide variant	NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582995]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	31529407	31529407	Human	1	name
13511099	CV485700	single nucleotide variant	NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000581936]	pathogenic	2	31531384	31531384	Human	1	name
13618046	CV518178	single nucleotide variant	NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000634581]	pathogenic\|likely pathogenic	2	31529385	31529385	Human	1	name
13704458	CV538637	single nucleotide variant	NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000660891]	pathogenic	2	31529419	31529419	Human	1	name
13705905	CV540524	single nucleotide variant	NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000664299]	uncertain significance	2	31529451	31529451	Human	1	name
13816221	CV558430	single nucleotide variant	NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000706218]	pathogenic\|likely pathogenic\|uncertain significance	2	31533690	31533690	Human	1	name
15189973	CV697552	single nucleotide variant	NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001509623]	benign	2	31531416	31531416	Human	1	name
8630329	CV85484	single nucleotide variant	NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000634579]\|not provided [RCV001270012]	pathogenic\|not provided	2	31533741	31533741	Human	1	name
34891691	CV906314	single nucleotide variant	NM_000348.4(SRD5A2):c.384C>G (p.Tyr128Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001175241]	likely pathogenic	2	31533664	31533664	Human	1	name
38464137	CV961421	single nucleotide variant	NM_000348.4(SRD5A2):c.485A>C (p.His162Pro)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001249472]	pathogenic\|likely pathogenic	2	31531433	31531433	Human	1	name
40904649	CV975669	single nucleotide variant	NM_000348.4(SRD5A2):c.321T>A (p.Tyr107Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001268947]	likely pathogenic	2	31533727	31533727	Human	1	name
40903783	CV976230	deletion	NM_000348.4(SRD5A2):c.81_94del (p.Ala28fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001726476]\|not provided [RCV001269576]	pathogenic	2	31580807	31580820	Human	1	name
8643939	CV103281	insertion	NM_000348.4(SRD5A2):c.89_90insT (p.Ser31fs)	not provided [RCV000083638]	not provided	2	31580811	31580812	Human		name
405025587	CV3029480	deletion	NM_000348.4(SRD5A2):c.115_137del (p.Ser39fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608409]	pathogenic	2	31580764	31580786	Human	1	name
597647954	CV3713357	deletion	NM_000348.4(SRD5A2):c.332_333del (p.Leu111fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV005026515]	pathogenic	2	31533715	31533716	Human	1	name
8557368	CV18377	deletion	NM_000348.4(SRD5A2):c.468_470del (p.Met157del)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003502]	pathogenic	2	31531448	31531450	Human	1	name
405028379	CV3044139	insertion	NM_000348.4(SRD5A2):c.492_493insGA (p.Tyr165fs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003608554]	pathogenic	2	31531425	31531426	Human	1	name
405135925	CV3164310	indel	NM_000348.4(SRD5A2):c.264_265delinsTG (p.Leu89Val)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003855105]	likely benign	2	31580636	31580637	Human		name
243051990	CV2417748	indel	NM_000348.4(SRD5A2):c.383_384delinsGA (p.Tyr128Ter)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003152662]	pathogenic	2	31533664	31533665	Human		name
151874364	CV1510379	deletion	NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001940208]	pathogenic	2	31533691	31533691	Human	1	name
405116142	CV2909881	deletion	NM_000348.4(SRD5A2):c.564del (p.Thr187_Tyr188insTer)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003500145]	pathogenic	2	31529441	31529441	Human	1	name
11648006	CV286104	indel	NM_000348.4(SRD5A2):c.88_91delinsACCTATATATATATATATATATAT	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000279779]	uncertain significance	2	31526105	31526108	Human		name
404996659	CV3123805	deletion	NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV003827712]	pathogenic				Human	1	name
11656430	CV286103	indel	NM_000348.4(SRD5A2):c.90_91delinsATATATATATATATATATATATATATATATATATAT	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000333647]	uncertain significance	2	31526105	31526106	Human		name
11662644	CV289149	indel	NM_000348.4(SRD5A2):c.90_91delinsATATATATATATATATATATATATATATATATATATAT	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000388184]	uncertain significance	2	31526105	31526106	Human		name

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