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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue (MONDO:0020041)
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: female infertility (MONDO:0021124)
Parent Node: inherited lipid metabolism disorder (MONDO:0002525)
Parent Node: rare male infertility due to testicular endocrine disorder (MONDO:0018388)
..Starting node ..46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ()
Child Nodes:
Sister Nodes:
..46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ()
..46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ()
..androgen insensitivity syndrome ()
..hypogonadism-mitral valve prolapse-intellectual disability syndrome ()
..Kennedy disease ()
..Leydig cell hypoplasia ()
..primary hypergonadotropic hypogonadism-partial alopecia syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9923

Name:

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Definition:

46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.

Alternative IDs:

264600

ParentIDs:

TreeNumbers:

Synonyms:

3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 5 Alpha steroid reductase 2 deficiency; 5-alpha reductase deficiency; familial incomplete Male pseudohermaphroditism, type 2; Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency; Mal

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 264600;
MSeqDR :
Genes: SRD5A2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0000818	Abnormality of the endocrine system NAMDC: Abnormality of the endocrine system
4	HP:0001595	Abnormality of the hair
5	HP:0001608	Abnormality of the voice
6	HP:0000033	Ambiguous genitalia, male
7	HP:0000048	Bifid scrotum
8	HP:0000054	Micropenis
9	HP:0000051	Perineal hypospadias
10	HP:0003812	Phenotypic variability

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)	6716	SRD5A2	Pathogenic/Likely pathogenic	9332967	RCV000546486;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751294	31751294	NC_000002.11:g.31751294C>T	ClinGen:CA1599846	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	6716	SRD5A2	Pathogenic/Likely pathogenic	9332964	RCV000003515\|RCV000083663\|RCV000288398\|RCV003313913;	N	Human Phenotype Ontology:HP:0000038,Human Phenotype Ontology:HP:0000054,MedGen:C4551492\|MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586, Orphanet:106	2	31754395	31754395	2:g.31754395C>T	ClinGen:CA116158,OMIM:607306.0016,ClinVar:427837,ClinVar:427841	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile)	6716	SRD5A2	Pathogenic/Likely pathogenic	759318152	RCV000548299;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754452	31754452	2:g.31754452G>A	ClinGen:CA1599875	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)	6716	SRD5A2	Pathogenic/Likely pathogenic	763296857	RCV000534325\|RCV001269600;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN517202	2	31754497	31754497	NC_000002.11:g.31754497T>C	ClinGen:CA1599888	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.548-2A>C	6716	SRD5A2	Pathogenic/Likely pathogenic	61750397	RCV000083658\|RCV000686310;	N	MedGen:CN517202\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754529	31754529	2:g.31754529T>G	ClinGen:CA224911	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)	6716	SRD5A2	Pathogenic/Likely pathogenic	764433016	RCV000706218;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758760	31758760	2:g.31758760T>G	-	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)	6716	SRD5A2	Pathogenic/Likely pathogenic	121434246	RCV000003504;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758774	31758774	2:g.31758774C>T	ClinGen:CA340070,OMIM:607306.0005	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.317del (p.Pro106fs)	6716	SRD5A2	Pathogenic/Likely pathogenic	767595335	RCV001249654;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758801	31758801	2:g.31758801_31758801del	-
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)	6716	SRD5A2	Pathogenic/Likely pathogenic	201175894	RCV000582682\|RCV001821707;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN517202	2	31805700	31805700	NC_000002.11:g.31805700A>G	ClinGen:CA1599996	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln)	6716	SRD5A2	Pathogenic/Likely pathogenic	121434245	RCV000003503\|RCV001269601\|RCV001813943;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000119,Human Phenotype Ontology:HP:0008658,Human Phenotype Ontology:HP:0008688,Human Phenotype Ontology:HP:0008704,Human Phenotype Ontology:HP:0008	2	31805807	31805807	2:g.31805807A>T	ClinGen:CA340068,OMIM:607306.0004	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro)	6716	SRD5A2	Pathogenic/Likely pathogenic	121434245	RCV001270011\|RCV002272440;	N	MedGen:CN517202\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805807	31805807	2:g.31805807A>G	-
NC_000002.11:g.(?_31751266)_(31751352_?)del	6716	SRD5A2	Pathogenic	-1	RCV001953764;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751266	31751352	-1	-
NC_000002.11:g.(?_31751266)_(31758856_?)del	6716	SRD5A2	Pathogenic	-1	RCV001962887;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751266	31758856	-1	-
NM_000348.4(SRD5A2):c.753del (p.Phe252fs)	6716	SRD5A2	Pathogenic	587776567	RCV000003507;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751278	31751278	2:g.31751278_31751278del	ClinGen:CA340076,OMIM:607306.0008	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp)	6716	SRD5A2	Pathogenic	121434244	RCV000003501\|RCV001574452;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:C3661900	2	31751295	31751295	2:g.31751295G>A	ClinGen:CA340064,OMIM:607306.0002	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.729del (p.Lys244fs)	6716	SRD5A2	Pathogenic	1553323033	RCV000664298;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751302	31751302	NC_000002.11:g.31751305del	-	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe)	6716	SRD5A2	Pathogenic	772283403	RCV000529458\|RCV002287421;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|Human Phenotype Ontology:HP:0000815,Human Phenotype Ontology:HP:0008679,MedGen:C0948896	2	31751327	31751327	2:g.31751327T>A	ClinGen:CA1599849	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)	6716	SRD5A2	Pathogenic	121434251	RCV000003510\|RCV001552751;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN517202	2	31754383	31754383	2:g.31754383T>C	ClinGen:CA340081,OMIM:607306.0011	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val)	6716	SRD5A2	Pathogenic	1553323488	RCV000540681;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754392	31754392	NC_000002.11:g.31754392G>A	ClinGen:CA346597874	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)	6716	SRD5A2	Pathogenic	121434249	RCV000003508\|RCV001270015;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN517202	2	31754393	31754393	2:g.31754393C>T	OMIM:607306.0009,ClinGen:CA340077	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)	6716	SRD5A2	Pathogenic	121434248	RCV000003506;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754396	31754396	2:g.31754396G>A	ClinGen:CA340074,OMIM:607306.0007	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)	6716	SRD5A2	Pathogenic	121434252	RCV000003512;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754440	31754440	2:g.31754440G>C	ClinGen:CA340083,OMIM:607306.0013	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp)	6716	SRD5A2	Pathogenic	767564684	RCV000634581;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754455	31754455	NC_000002.11:g.31754455G>T	ClinGen:CA1599876	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)	6716	SRD5A2	Pathogenic	9332961	RCV000535535;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754468	31754468	2:g.31754468C>T	ClinGen:CA1599879	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp)	6716	SRD5A2	Pathogenic	121434253	RCV000003513;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754484	31754484	2:g.31754484C>A	ClinGen:CA340085,OMIM:607306.0014	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.589G>A (p.Glu197Lys)	6716	SRD5A2	Pathogenic	534671822	RCV001726695;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754486	31754486	31754486	-
NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg)	6716	SRD5A2	Pathogenic	121434250	RCV000660891;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754489	31754489	2:g.31754489C>G	-	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)	6716	SRD5A2	Pathogenic	121434247	RCV000003505;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756441	31756441	2:g.31756441C>T	ClinGen:CA340072,OMIM:607306.0006	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter)	6716	SRD5A2	Pathogenic	1200261940	RCV000581936;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756454	31756454	NC_000002.11:g.31756454G>T	ClinGen:CA346598184	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)	6716	SRD5A2	Pathogenic	-1	RCV002725597;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756475	31756475	NC_000002.11:g.31756475C>G	-
NM_000348.4(SRD5A2):c.485A>C (p.His162Pro)	6716	SRD5A2	Pathogenic	1665904910	RCV001249472;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756503	31756503	2:g.31756503T>G	-
NM_000348.4(SRD5A2):c.468_470del (p.Met157del)	6716	SRD5A2	Pathogenic	587776566	RCV000003502;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756518	31756520	2:g.31756518_31756520del	ClinGen:CA340066,OMIM:607306.0003	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NC_000002.12:g.31532094_31545036delinsCA	6716	SRD5A2	Pathogenic	-1	RCV000681614;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31757164	31770106		-	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
GRCh37/hg19 2p23.1(chr2:31758677-31805700)	6716	SRD5A2	Pathogenic	-1	RCV000767681;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758677	31805700		-
NM_000348.4(SRD5A2):c.383_384delinsGA (p.Tyr128Ter)	6716	SRD5A2	Pathogenic	-1	RCV003152662;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758734	31758735		-
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)	6716	SRD5A2	Pathogenic	368386747	RCV000413020\|RCV000545602;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758741	31758741	2:g.31758741T>C	ClinGen:CA1599952	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer)	6716	SRD5A2	Pathogenic	2148066893	RCV001940208;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758761	31758761	31758760	-
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter)	6716	SRD5A2	Pathogenic	267599353	RCV000634579\|RCV001270012;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN517202	2	31758811	31758811	2:g.31758811G>A	ClinGen:CA1599969	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.282-2A>G	6716	SRD5A2	Pathogenic	1340425455	RCV000583485\|RCV001821708;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN517202	2	31758838	31758838	2:g.31758838T>C	ClinGen:CA346598741	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp)	6716	SRD5A2	Pathogenic	201175894	RCV000581450;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805700	31805700	NC_000002.11:g.31805700A>C	ClinGen:CA1599995	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.218del (p.Leu73fs)	6716	SRD5A2	Pathogenic	1553329427	RCV000660881;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805753	31805753	NC_000002.11:g.31805753del	-	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter)	6716	SRD5A2	Pathogenic	1060499834	RCV000469192;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805760	31805760	NC_000002.11:g.31805760G>A	ClinGen:CA16609845	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser)	6716	SRD5A2	Pathogenic	1553329443	RCV000583779;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805766	31805766	2:g.31805766C>A	ClinGen:CA346598903	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln)	6716	SRD5A2	Pathogenic	750444774	RCV000582093;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805802	31805802	NC_000002.11:g.31805802C>G	ClinGen:CA1600017	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.169G>T (p.Glu57Ter)	6716	SRD5A2	Pathogenic	750444774	RCV001726693;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805802	31805802	31805802	ClinVar:1298362
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg)	6716	SRD5A2	Pathogenic	782032018	RCV000414643\|RCV002523914;	N	MedGen:CN517202\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805871	31805871	2:g.31805871C>T	ClinGen:CA45142058	CN517202 not provided;
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg)	6716	SRD5A2	Pathogenic	782032018	RCV001030762;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805871	31805871	2:g.31805871C>G	-
NM_000348.4(SRD5A2):c.81_94del (p.Ala28fs)	6716	SRD5A2	Pathogenic	1667066366	RCV001269576\|RCV001726476;	N	MedGen:CN517202\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805877	31805889	2:g.31805877_31805889del	-
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro)	6716	SRD5A2	Pathogenic	761824859	RCV000583658\|RCV001591351;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN517202	2	31805911	31805911	NC_000002.11:g.31805911A>G	ClinGen:CA1600035	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)	6716	SRD5A2	Pathogenic	9332960	RCV000500379\|RCV000578706\|RCV003403177;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:C3661900\|	2	31805954	31805954	NC_000002.11:g.31805954G>A	ClinGen:CA1600043	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.10C>T (p.Gln4Ter)	6716	SRD5A2	Pathogenic	-1	RCV002465022;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805960	31805960	NC_000002.11:g.31805960G>A	-
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys)	6716	SRD5A2	Likely pathogenic	1553323036	RCV000508957;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751306	31751306	2:g.31751306T>C	ClinGen:CA346597764	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg)	6716	SRD5A2	Likely pathogenic	748899308	RCV000553178;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754380	31754380	2:g.31754380T>C	ClinGen:CA346597847	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.683C>G (p.Ala228Gly)	6716	SRD5A2	Likely pathogenic	-1	RCV003317733;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754392	31754392		-
NC_000002.12:g.(?_31531351)_(31531492_?)del	6716	SRD5A2	Likely pathogenic	-1	RCV000801992;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756421	31756562		-
NM_000348.4(SRD5A2):c.384C>G (p.Tyr128Ter)	6716	SRD5A2	Likely pathogenic	1665963551	RCV001175241;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758734	31758734	2:g.31758734G>C	-
NM_000348.4(SRD5A2):c.321T>A (p.Tyr107Ter)	6716	SRD5A2	Likely pathogenic	781214178	RCV001268947;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758797	31758797	2:g.31758797A>T	-
NM_000348.4(SRD5A2):c.35C>A (p.Ala12Glu)	6716	SRD5A2	Likely pathogenic	-1	RCV003445401;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805935	31805935		-
NM_000348.4(SRD5A2):c.*1552G>A	6716	SRD5A2	Benign	1042578	RCV000083670\|RCV000392570;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749714	31749714	2:g.31749714C>T	ClinGen:CA224928	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*1504A>T	6716	SRD5A2	Uncertain significance	1665733488	RCV001142828;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749762	31749762	2:g.31749762T>A	-
NM_000348.4(SRD5A2):c.*1492A>G	6716	SRD5A2	Uncertain significance	28383088	RCV001142829;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749774	31749774	2:g.31749774T>C	-
NM_000348.4(SRD5A2):c.*1440T>G	6716	SRD5A2	Uncertain significance	1665735409	RCV001142830;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749826	31749826	2:g.31749826A>C	-
NM_000348.4(SRD5A2):c.*1422G>A	6716	SRD5A2	Uncertain significance	757100337	RCV001142831;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749844	31749844	2:g.31749844C>T	-
NM_000348.4(SRD5A2):c.*1384A>G	6716	SRD5A2	Uncertain significance	1665736847	RCV001142832;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749882	31749882	2:g.31749882T>C	-
NM_000348.4(SRD5A2):c.*1356A>C	6716	SRD5A2	Likely benign	28383087	RCV000083669\|RCV000297080;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749910	31749910	2:g.31749910T>G	ClinGen:CA224927	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*1290C>G	6716	SRD5A2	Uncertain significance	549077867	RCV000354324;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749976	31749976	2:g.31749976G>C	ClinGen:CA10615083	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*1290C>A	6716	SRD5A2	Uncertain significance	549077867	RCV001142833;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749976	31749976	2:g.31749976G>T	-
NM_000348.4(SRD5A2):c.*1273A>G	6716	SRD5A2	Benign	28383086	RCV000392562;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31749993	31749993	2:g.31749993T>C	ClinGen:CA10613197	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*1242A>G	6716	SRD5A2	Uncertain significance	1665741244	RCV001138086;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750024	31750024	2:g.31750024T>C	-
NM_000348.4(SRD5A2):c.1151_1152dup	6716	SRD5A2	Uncertain significance	74702388	RCV000305311;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750113	31750114	2:g.31750113_31750114insAA	ClinGen:CA10613198	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*1152del	6716	SRD5A2	Uncertain significance	74702388	RCV000357843;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750114	31750114	2:g.31750114_31750114del	ClinGen:CA10615084	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*1133A>G	6716	SRD5A2	Uncertain significance	886055949	RCV000265483;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750133	31750133	NC_000002.11:g.31750133T>C	ClinGen:CA10615288	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*1056G>C	6716	SRD5A2	Benign	28383085	RCV000327630;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750210	31750210	NC_000002.11:g.31750210C>G	ClinGen:CA10613201	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*981G>A	6716	SRD5A2	Likely benign	191186592	RCV001138087;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750285	31750285	2:g.31750285C>T	-
NM_000348.4(SRD5A2):c.*849A>G	6716	SRD5A2	Benign	9332975	RCV000083668\|RCV000365985;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750417	31750417	2:g.31750417T>C	ClinGen:CA224926	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*686G>T	6716	SRD5A2	Uncertain significance	886055950	RCV000272898;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750580	31750580	NC_000002.11:g.31750580C>A	ClinGen:CA10613206	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*672T>A	6716	SRD5A2	Uncertain significance	75984166	RCV001138088;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750594	31750594	2:g.31750594A>T	-
NM_000348.4(SRD5A2):c.*614T>A	6716	SRD5A2	Uncertain significance	886055951	RCV000327922;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750652	31750652	NC_000002.11:g.31750652A>T	ClinGen:CA10615085	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*572C>T	6716	SRD5A2	Uncertain significance	1665760528	RCV001138512;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750694	31750694	2:g.31750694G>A	-
NM_000348.4(SRD5A2):c.*510T>G	6716	SRD5A2	Uncertain significance	1665761786	RCV001138513;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750756	31750756	2:g.31750756A>C	-
NM_000348.4(SRD5A2):c.*392A>C	6716	SRD5A2	Uncertain significance	1194956705	RCV001138514;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750874	31750874	2:g.31750874T>G	-
NM_000348.4(SRD5A2):c.*372G>A	6716	SRD5A2	Benign	147184986	RCV001138515;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750894	31750894	2:g.31750894C>T	-
NM_000348.4(SRD5A2):c.*307A>G	6716	SRD5A2	Uncertain significance	542605254	RCV001138516;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750959	31750959	2:g.31750959T>C	-
NM_000348.4(SRD5A2):c.*286A>G	6716	SRD5A2	Uncertain significance	886055952	RCV000387092;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750980	31750980	NC_000002.11:g.31750980T>C	ClinGen:CA10615290	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*278C>T	6716	SRD5A2	Uncertain significance	151234587	RCV001138517;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31750988	31750988	2:g.31750988G>A	-
NM_000348.4(SRD5A2):c.*259T>C	6716	SRD5A2	Benign	61750400	RCV000083666\|RCV001138518;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751007	31751007	2:g.31751007A>G	ClinGen:CA224924	CN517202 not provided;
NM_000348.4(SRD5A2):c.*224A>T	6716	SRD5A2	Benign	28383083	RCV000292787;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751042	31751042	NC_000002.11:g.31751042T>A	ClinGen:CA10613207	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*120G>A	6716	SRD5A2	Uncertain significance	578234141	RCV001141079;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751146	31751146	2:g.31751146C>T	-
NM_000348.4(SRD5A2):c.*119C>T	6716	SRD5A2	Uncertain significance	187924868	RCV001141080;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751147	31751147	2:g.31751147G>A	-
NM_000348.4(SRD5A2):c.90_91delinsATATATATATATATATATATATATATATATATATAT	6716	SRD5A2	Uncertain significance	886055953	RCV000333647;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751175	31751176	NC_000002.11:g.31751175_31751176delinsATATATATATATATATATATATATATATATATATAT	ClinGen:CA10613210	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.88_91delinsACCTATATATATATATATATATAT	6716	SRD5A2	Uncertain significance	886055954	RCV000279779;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751175	31751178	NC_000002.11:g.31751175_31751178delinsATATATATATATATATATATAGGT	ClinGen:CA10613211	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.90_91delinsATATATATATATATATATATATATATATATATATATAT	6716	SRD5A2	Uncertain significance	886055953	RCV000388184;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751175	31751176	NC_000002.11:g.31751175_31751176delinsATATATATATATATATATATATATATATATATATATAT	ClinGen:CA10615091	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*91C>T	6716	SRD5A2	Benign	192604242	RCV000334803;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751175	31751175	NC_000002.11:g.31751175G>A	ClinGen:CA10615298	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*88T>A	6716	SRD5A2	Benign	370989010	RCV000400378;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751178	31751178	NC_000002.11:g.31751178A>T	ClinGen:CA10613214	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.*43G>A	6716	SRD5A2	Benign	28383082	RCV000582814;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751223	31751223	2:g.31751223C>T	ClinGen:CA1599843	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NC_000002.11:g.(?_31751246)_(31805989_?)dup	6716	SRD5A2	Uncertain significance	-1	RCV001033826;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751246	31805989	-1	-
NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr)	6716	SRD5A2	Conflicting interpretations of pathogenicity	145712014	RCV000499604\|RCV000873320\|RCV001446958;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751297	31751297	NC_000002.11:g.31751297G>T	ClinGen:CA1599847	CN169374 not specified;
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu)	6716	SRD5A2	Conflicting interpretations of pathogenicity	9332966	RCV000083665\|RCV001088179\|RCV003317085;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:CN169374	2	31751329	31751329	2:g.31751329G>C	ClinGen:CA224922	CN517202 not provided;
NM_000348.4(SRD5A2):c.699-3T>C	6716	SRD5A2	Uncertain significance	-1	RCV002471409;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31751335	31751335	NC_000002.11:g.31751335A>G	-
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)	6716	SRD5A2	Uncertain significance	-1	RCV002847112;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754397	31754397		-
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)	6716	SRD5A2	Conflicting interpretations of pathogenicity	756853742	RCV000582995;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754477	31754477	2:g.31754477C>T	ClinGen:CA1599881	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=)	6716	SRD5A2	Benign/Likely benign	28383064	RCV000527644\|RCV001644629\|RCV001821521;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:C3661900\|MedGen:CN169374	2	31754481	31754481	NC_000002.11:g.31754481G>A	ClinGen:CA1599883	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)	6716	SRD5A2	Conflicting interpretations of pathogenicity	121434250	RCV000003509\|RCV001269804;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MedGen:C3661900	2	31754489	31754489	2:g.31754489C>T	ClinGen:CA340079,OMIM:607306.0010	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser)	6716	SRD5A2	Uncertain significance	574377752	RCV000664299;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754521	31754521	NC_000002.11:g.31754521A>G	-	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.548-4G>A	6716	SRD5A2	Likely benign	763759170	RCV001505415;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754531	31754531	31754531	-
NM_000348.4(SRD5A2):c.548-5C>G	6716	SRD5A2	Uncertain significance	753272225	RCV000583325;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754532	31754532	NC_000002.11:g.31754532G>C	ClinGen:CA658683179	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.548-9T>G	6716	SRD5A2	Uncertain significance	1057519061	RCV000581602;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754536	31754536	2:g.31754536A>C	ClinGen:CA346598150,ClinVar:427837	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.548-18C>T	6716	SRD5A2	Benign	28383063	RCV002136768;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31754545	31754545	31754545	-
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=)	6716	SRD5A2	Uncertain significance	767928056	RCV000582721;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756451	31756451	2:g.31756451C>T	ClinGen:CA425567508	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser)	6716	SRD5A2	Uncertain significance	767928056	RCV001951989;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756451	31756451	31756451	-
NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys)	6716	SRD5A2	Benign	374399753	RCV001509623;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756486	31756486	2:g.31756486G>A	-
NM_000348.4(SRD5A2):c.446-10_446-8del	6716	SRD5A2	Uncertain significance	758063160	RCV000583822;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31756550	31756552	NC_000002.11:g.31756551AGA[1]	ClinGen:CA1599929	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.441C>T (p.Ser147=)	6716	SRD5A2	Benign	201018300	RCV001518885;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758677	31758677	31758677	-
NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys)	6716	SRD5A2	Uncertain significance	-1	RCV002843842;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758715	31758715	NC_000002.11:g.31758715C>T	-
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp)	6716	SRD5A2	Uncertain significance	1553324169	RCV000557983;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758733	31758733	2:g.31758733A>C	ClinGen:CA346598532	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn)	6716	SRD5A2	Uncertain significance	-1	RCV002700816;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758736	31758736	NC_000002.11:g.31758736A>T	-
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val)	6716	SRD5A2	Conflicting interpretations of pathogenicity	28383048	RCV000537388\|RCV001519907;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758781	31758781	NC_000002.11:g.31758781G>C	ClinGen:CA1599959	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.331C>A (p.Leu111Ile)	6716	SRD5A2	Uncertain significance	200206626	RCV001937485;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31758787	31758787	31758787	-
NM_000348.4(SRD5A2):c.281+20G>A	6716	SRD5A2	Benign	61750392	RCV000083654\|RCV002055242;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805670	31805670	2:g.31805670C>T	ClinGen:CA224907	CN517202 not provided;
NM_000348.4(SRD5A2):c.281+15T>C	6716	SRD5A2	Benign	522638	RCV000083653\|RCV000254308\|RCV001516897;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805675	31805675	2:g.31805675A>G	ClinGen:CA224906	CN517202 not provided;
NM_000348.4(SRD5A2):c.281+11T>C	6716	SRD5A2	Likely benign	774959761	RCV002111843;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805679	31805679	31805679	-
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val)	6716	SRD5A2	Benign	523349	RCV000083650\|RCV000250955\|RCV001516898;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805706	31805706	2:g.31805706G>C	ClinGen:CA224901	CN517202 not provided;
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp)	6716	SRD5A2	Benign	867198056	RCV000280741;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805707	31805707	NC_000002.11:g.31805707G>C	ClinGen:CA10615096	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu)	6716	SRD5A2	Uncertain significance	886055955	RCV000340428\|RCV002519968;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753\|MeSH:D030342,MedGen:C0950123	2	31805741	31805741	NC_000002.11:g.31805741C>T	ClinGen:CA10613215	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.210G>A (p.Arg70=)	6716	SRD5A2	Conflicting interpretations of pathogenicity	61750388	RCV000083647\|RCV001453334;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805761	31805761	2:g.31805761C>T	ClinGen:CA224895	CN517202 not provided;
NM_000348.4(SRD5A2):c.183C>T (p.Phe61=)	6716	SRD5A2	Likely benign	61750385	RCV000083644\|RCV002055241;	N	MedGen:CN517202\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805788	31805788	2:g.31805788G>A	ClinGen:CA224889	CN517202 not provided;
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)	6716	SRD5A2	Benign	9282858	RCV000003511\|RCV000083640\|RCV000531645;	N	\|MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805826	31805826	2:g.31805826C>T	ClinGen:CA116154,OMIM:607306.0012	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu)	6716	SRD5A2	Uncertain significance	61748122	RCV000695133;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805828	31805828	2:g.31805828G>A	-	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.111G>A (p.Thr37=)	6716	SRD5A2	Likely benign	781961035	RCV001494408;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805860	31805860	31805860	-
NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val)	6716	SRD5A2	Benign	1328422263	RCV001511581;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805876	31805876	2:g.31805876C>A	-
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs)	6716	SRD5A2	Benign	142200057	RCV000401233;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805880	31805881	NC_000002.11:g.31805881_31805882dup	ClinGen:CA45142061	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.4(SRD5A2):c.61G>C (p.Gly21Arg)	6716	SRD5A2	Uncertain significance	1265216982	RCV001940814;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805909	31805909	31805909	-
NM_000348.4(SRD5A2):c.25C>T (p.Pro9Ser)	6716	SRD5A2	Uncertain significance	868322910	RCV002006403;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805945	31805945	31805945	-
NM_000348.4(SRD5A2):c.-20C>T	6716	SRD5A2	Uncertain significance	769873996	RCV001138196;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31805989	31805989	2:g.31805989G>A	-
NM_000348.3(SRD5A2):c.-55G>A	6716	SRD5A2	Benign	577957973	RCV000305170;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31806024	31806024	NC_000002.11:g.31806024C>T	ClinGen:CA10615107	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.3(SRD5A2):c.-62G>C	6716	SRD5A2	Benign	632148	RCV000083635\|RCV000359892;	N	MedGen:C3661900\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31806031	31806031	2:g.31806031C>G	ClinGen:CA224877	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NM_000348.3(SRD5A2):c.-64A>G	6716	SRD5A2	Uncertain significance	886055956	RCV000392050;	N	MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31806033	31806033	NC_000002.11:g.31806033T>C	ClinGen:CA10613217	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;
NC_000002.11:g.(?_31598226)_(31805969_?)dup	-1	SRD5A2;XDH	Uncertain significance	-1	RCV003111079\|RCV003111078;	N	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592, Orphanet:3467, Orphanet:93602\|MONDO:MONDO:0009923,MedGen:C0268297,OMIM:264600, Orphanet:753	2	31598226	31805969		-

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