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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,XX disorder of sex development induced by fetal androgens excess (MONDO:0019593)
Parent Node: congenital adrenal hyperplasia (MONDO:0018479)
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
..Starting node ..congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ()
Child Nodes:
Sister Nodes:
..46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ()
..abetalipoproteinemia ()
..acquired partial lipodystrophy ()
..acrodermatitis enteropathica ()
..adult Refsum disease ()
..AICA-ribosiduria ()
..albinism-deafness syndrome ()
..Alstrom syndrome ()
..Amish lethal microcephaly () L: 00112;
..AREDYLD syndrome ()
..arthrogryposis-renal dysfunction-cholestasis syndrome ()
..Arts syndrome ()
..Bloom syndrome ()
..cerebrotendinous xanthomatosis ()
..Charcot-Marie-Tooth disease X-linked recessive 5 ()
..chromosome Xp21 deletion syndrome ()
..classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ()
..classic homocystinuria ()
..Cockayne syndrome ()
..congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ()
..creatine transporter deficiency ()
..de Barsy syndrome ()
..Diamond-Blackfan anemia ()
..Donohue syndrome ()
..Fabry disease ()
..familial isolated deficiency of vitamin E ()
..familial partial lipodystrophy, Dunnigan type ()
..glucocorticoid resistance ()
..H syndrome ()
..Haim-Munk syndrome ()
..Heimler syndrome 2 ()
..hereditary sensory neuropathy-deafness-dementia syndrome ()
..hyperandrogenism ()
..inborn mitochondrial metabolism disorder ()
..juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ()
..lipodystrophy-intellectual disability-deafness syndrome ()
..lipoid proteinosis ()
..mandibuloacral dysplasia ()
..maternal phenylketonuria ()
..MEDNIK syndrome ()
..mucosulfatidosis ()
..Neu-Laxova syndrome ()
..Nijmegen breakage syndrome ()
..Nijmegen breakage syndrome-like disorder ()
..occipital horn syndrome ()
..ocular albinism with late-onset sensorineural deafness ()
..oculocerebral hypopigmentation syndrome, Cross type ()
..oculocerebrorenal syndrome ()
..Papillon-Lefevre disease ()
..permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome ()
..PHARC syndrome ()
..photosensitive trichothiodystrophy ()
..polysyndactyly ()
..primary microcephaly-epilepsy-permanent neonatal diabetes syndrome ()
..renal cysts and diabetes syndrome ()
..renal tubular acidosis, distal, autosomal recessive ()
..Seckel syndrome 10 ()
..SHORT syndrome ()
..SLC39A8-CDG ()
..spinocerebellar ataxia type 38 ()
..SRD5A3-CDG ()
..SSR4-CDG ()
..thiamine-responsive megaloblastic anemia syndrome ()
..thyroid hormone resistance, generalized, autosomal recessive ()
..transketolase deficiency ()
..Wiedemann-Rautenstrauch syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8729

Name:

congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Definition:

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

Alternative IDs:

202010

ParentIDs:

TreeNumbers:

Synonyms:

11-Beta-Hydroxylase deficiency; adrenal hyperplasia 4; adrenal hyperplasia hypertensive form; adrenal hyperplasia IV; adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency; adrenal hyperplasia, hypertensive form; CAH due to 11-beta-hydroxylase deficiency; CYP11B1 deficiency;

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 202010;
MSeqDR :
Genes: CYP11B1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003623	Neonatal onset
3	HP:0000079	Abnormality of the urinary system
4	HP:0005616	Accelerated skeletal maturation
5	HP:0000840	Adrenogenital syndrome
6	HP:0000061	Ambiguous genitalia, female
7	HP:0008665	Clitoral hypertrophy
8	HP:0008258	Congenital adrenal hyperplasia
9	HP:0004319	Decreased circulating aldosterone level
10	HP:0003351	Decreased circulating renin level
11	HP:0008734	Decreased testicular size
12	HP:0000953	Hyperpigmentation of the skin
13	HP:0000822	Hypertension
14	HP:0002900	Hypokalemia
15	HP:0000013	Hypoplasia of the uterus
16	HP:0008726	Hypoplasia of the vagina
17	HP:0000040	Long penis
18	HP:0008185	Precocious puberty in males
19	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His)	1584	CYP11B1	Pathogenic/Likely pathogenic	367634557	RCV000672406\|RCV002531315;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202	8	143956410	143956410	8:g.143956410C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	1584	CYP11B1	Pathogenic/Likely pathogenic	2130266157	RCV002240087\|RCV002496178\|RCV003471296;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202	8	143956411	143956412	143956411	-
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	1584	CYP11B1	Pathogenic/Likely pathogenic	28934586	RCV000001230\|RCV000791917\|RCV001199200\|RCV002496223;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orph	8	143956428	143956428	8:g.143956428C>T	UniProtKB:P15538#VAR_001265,OMIM:610613.0001,ClinGen:CA339875	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)	1584	CYP11B1	Pathogenic/Likely pathogenic	779103938	RCV000224289\|RCV000672120\|RCV002494612;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143956440	143956440	8:g.143956440C>T	ClinGen:CA4905016,UniProtKB:P15538#VAR_074530	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	1584	CYP11B1	Pathogenic/Likely pathogenic	267606755	RCV000001244\|RCV001851530\|RCV003415613;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|	8	143956502	143956502	8:g.143956502A>C	ClinGen:CA339882,OMIM:610613.0015	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1201-1G>A	1584	CYP11B1	Pathogenic/Likely pathogenic	1437397442	RCV001667863;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956571	143956571	143956571	-
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)	1584	CYP11B1	Pathogenic/Likely pathogenic	758714890	RCV001909041\|RCV002279773;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956669	143956670	143956669	OMIM:610613.0005
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	1584	CYP11B1	Pathogenic/Likely pathogenic	764598023	RCV000667465\|RCV000763177\|RCV001386864;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143956699	143956699	8:g.143956699C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)	1584	CYP11B1	Pathogenic/Likely pathogenic	760880418	RCV000671118\|RCV002531270;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143956722	143956722	8:g.143956722G>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)	1584	CYP11B1	Pathogenic/Likely pathogenic	149881706	RCV000050227\|RCV001382848;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143957254	143957254	8:g.143957254C>T	ClinGen:CA344785,UniProtKB:P15538#VAR_074519	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)	1584	CYP11B1	Pathogenic/Likely pathogenic	1326688256	RCV000667891;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957257	143957257	8:g.143957257G>A	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	1584	CYP11B1	Pathogenic/Likely pathogenic	104894068	RCV000001237\|RCV001781159\|RCV002247232\|RCV002496224;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orph	8	143957293	143957293	8:g.143957293G>A	ClinGen:CA339881,UniProtKB:P15538#VAR_001263,OMIM:610613.0008	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	1584	CYP11B1	Pathogenic/Likely pathogenic	753774484	RCV000516213\|RCV000667365\|RCV003387864;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418	8	143957657	143957657	NC_000008.10:g.143957657C>T	ClinGen:CA463327589,OMIM:610613.0010	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg)	1584	CYP11B1	Pathogenic/Likely pathogenic	104894061	RCV000672570\|RCV001224692;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202	8	143957658	143957658	8:g.143957658G>C	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)	1584	CYP11B1	Pathogenic/Likely pathogenic	387907572	RCV000050225\|RCV001239586;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143957694	143957694	8:g.143957694G>A	UniProtKB:P15538#VAR_074513,ClinGen:CA344781	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.907del (p.Ala303fs)	1584	CYP11B1	Pathogenic/Likely pathogenic	769310764	RCV001942054\|RCV003471159;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957704	143957704	143957703	-
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)	1584	CYP11B1	Pathogenic/Likely pathogenic	387907573	RCV000050224\|RCV000991870;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143957715	143957715	8:g.143957715A>G	ClinGen:CA344779,UniProtKB:P15538#VAR_074512	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)	1584	CYP11B1	Pathogenic/Likely pathogenic	2130273520	RCV001983015\|RCV003471199;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957757	143957758	143957757	-
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs)	1584	CYP11B1	Pathogenic/Likely pathogenic	775128501	RCV000517484\|RCV000668927;	N	MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957769	143957770	8:g.143957769_143957770insTGGTGTACTGT	ClinGen:CA4905282	CN517202 not provided;
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)	1584	CYP11B1	Pathogenic/Likely pathogenic	1327055239	RCV001385193\|RCV001806163\|RCV002476727;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958171	143958171	143958170	-
NM_000497.4(CYP11B1):c.642_643del (p.His214fs)	1584	CYP11B1	Pathogenic/Likely pathogenic	1369163428	RCV001390097\|RCV003463035;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958254	143958255	143958253	-
NM_000497.4(CYP11B1):c.596-2A>T	1584	CYP11B1	Pathogenic/Likely pathogenic	775946442	RCV001994155\|RCV003464351;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958303	143958303	143958303	-
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)	1584	CYP11B1	Pathogenic/Likely pathogenic	142484434	RCV001895798\|RCV003470993;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958585	143958585	143958585	-
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)	1584	CYP11B1	Pathogenic/Likely pathogenic	140336749	RCV000050223\|RCV001781383;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143958607	143958607	8:g.143958607G>A	ClinGen:CA344777,UniProtKB:P15538#VAR_074503	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)	1584	CYP11B1	Pathogenic/Likely pathogenic	1554653675	RCV000674113\|RCV001233426;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143961013	143961013	8:g.143961013G>A	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	1584	CYP11B1	Pathogenic/Likely pathogenic	104894069	RCV000001238\|RCV000029642\|RCV001851529\|RCV002476907;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C	8	143961106	143961106	8:g.143961106G>A	ClinGen:CA213660,UniProtKB:P15538#VAR_001260,OMIM:610613.0009	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)	1584	CYP11B1	Pathogenic/Likely pathogenic	763195324	RCV000667072\|RCV001040067;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143961175	143961175	8:g.143961175G>A	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter)	1584	CYP11B1	Pathogenic/Likely pathogenic	1554653714	RCV000674379\|RCV001855607;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202	8	143961185	143961185	8:g.143961185C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1438del (p.Asp480fs)	1584	CYP11B1	Pathogenic	1816868757	RCV001290137;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955863	143955863	143955862	-
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)	1584	CYP11B1	Pathogenic	1447069098	RCV001063066\|RCV002282447\|RCV002497451;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143956413	143956413	8:g.143956413C>T	-
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)	1584	CYP11B1	Pathogenic	28934586	RCV001332501;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956428	143956428	143956428	-
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys)	1584	CYP11B1	Pathogenic	1221010438	RCV001959022\|RCV003471195;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956429	143956429	143956429	-
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs)	1584	CYP11B1	Pathogenic	1816889095	RCV001269700\|RCV002250741;	N	MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956439	143956446	8:g.143956439_143956446del	-
NM_000497.4(CYP11B1):c.1214del (p.Val405fs)	1584	CYP11B1	Pathogenic	2130266809	RCV002251187;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956557	143956557	143956556	-
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)	1584	CYP11B1	Pathogenic	1256580853	RCV000518608\|RCV000668755\|RCV002481670\|RCV003403212;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|	8	143956669	143956669	8:g.143956669_143956669del	ClinGen:CA585726624	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs)	1584	CYP11B1	Pathogenic	-1	RCV003468622;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956697	143956700		-
NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp)	1584	CYP11B1	Pathogenic	104894071	RCV000001246;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957146	143957146	8:g.143957146G>T	ClinGen:CA339884,UniProtKB:P15538#VAR_074522,OMIM:610613.0017	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)	1584	CYP11B1	Pathogenic	146124466	RCV000050222\|RCV000711392\|RCV000763178;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957183	143957183	8:g.143957183G>A	ClinGen:CA344775	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter)	1584	CYP11B1	Pathogenic	1214983921	RCV001210277\|RCV002291733;	N	MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957237	143957237	8:g.143957237G>A	-
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	1584	CYP11B1	Pathogenic	104894061	RCV000001232\|RCV001066246\|RCV002504733;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957658	143957658	8:g.143957658G>A	ClinGen:CA339876,UniProtKB:P15538#VAR_001262,OMIM:610613.0003	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter)	1584	CYP11B1	Pathogenic	2130273191	RCV002251185;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957698	143957698	143957698	-
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)	1584	CYP11B1	Pathogenic	2130274854	RCV001918990\|RCV003471042;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958104	143958104	143958104	-
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter)	1584	CYP11B1	Pathogenic	1554652998	RCV000670838\|RCV000711405;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202	8	143958117	143958117	8:g.143958117C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter)	1584	CYP11B1	Pathogenic	1554652999	RCV000674543;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958118	143958118	8:g.143958118C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)	1584	CYP11B1	Pathogenic	866430018	RCV000669979\|RCV001227579;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143958157	143958157	8:g.143958157C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.595+16G>T	1584	CYP11B1	Pathogenic	1365173817	RCV000001242;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958423	143958423	8:g.143958423C>A	OMIM:610613.0013	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)	1584	CYP11B1	Pathogenic	775479837	RCV001386866\|RCV001779162\|RCV003469726;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958613	143958613	143958613	-
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His)	1584	CYP11B1	Pathogenic	104894067	RCV000001236;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958637	143958637	8:g.143958637T>G	ClinGen:CA339880,UniProtKB:P15538#VAR_001261,OMIM:610613.0007	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.372del (p.His125fs)	1584	CYP11B1	Pathogenic	1554653520	RCV000667181;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960471	143960471	8:g.143960471_143960471del	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)	1584	CYP11B1	Pathogenic	104894066	RCV000001235;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960496	143960496	8:g.143960496C>T	ClinGen:CA339878,OMIM:610613.0006	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs)	1584	CYP11B1	Pathogenic	764418169	RCV000667039\|RCV000820022;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143960499	143960526	NC_000008.10:g.143960503_143960530del	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	1584	CYP11B1	Pathogenic	104894070	RCV000001245\|RCV000029646\|RCV000517938\|RCV002490289;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C	8	143960562	143960562	8:g.143960562G>A	OMIM:610613.0016,ClinGen:CA213667,UniProtKB:P15538#VAR_065666	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1399-1G>C	1584	CYP11B1	Likely pathogenic	-1	RCV003468619;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955903	143955903		-
NM_000497.4(CYP11B1):c.1398+4A>G	1584	CYP11B1	Likely pathogenic	1586557065	RCV000001240\|RCV002496225;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143956369	143956369	8:g.143956369T>C	OMIM:610613.0011	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1398+2T>C	1584	CYP11B1	Likely pathogenic	577022490	RCV000674749;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956371	143956371	8:g.143956371A>G	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)	1584	CYP11B1	Likely pathogenic	-1	RCV003468620;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956377	143956378		-
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del)	1584	CYP11B1	Likely pathogenic	2130266841	RCV002269805;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956559	143956561	143956558	-
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs)	1584	CYP11B1	Likely pathogenic	1554652650	RCV000666356;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956566	143956566	8:g.143956566_143956566del	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1201-9C>A	1584	CYP11B1	Likely pathogenic	-1	RCV003468617;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956579	143956579		-
NM_000497.4(CYP11B1):c.1200+1del	1584	CYP11B1	Likely pathogenic	2130267209	RCV001667864;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956649	143956649	143956648	-
NM_000497.4(CYP11B1):c.1200+1G>T	1584	CYP11B1	Likely pathogenic	-1	RCV003468624;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956649	143956649		-
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)	1584	CYP11B1	Likely pathogenic	1379392398	RCV000667792;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956690	143956691	8:g.143956690_143956691insT	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)	1584	CYP11B1	Likely pathogenic	1816901292	RCV001219956\|RCV003469377;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956714	143956714	8:g.143956714C>A	-
NM_000497.4(CYP11B1):c.1122-2A>G	1584	CYP11B1	Likely pathogenic	-1	RCV003468616;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956730	143956730		-
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	1584	CYP11B1	Likely pathogenic	104894062	RCV000001233\|RCV001851528;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143957128	143957128	8:g.143957128C>T	ClinGen:CA339877,UniProtKB:P15538#VAR_001264,OMIM:610613.0004	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)	1584	CYP11B1	Likely pathogenic	61752786	RCV000029638\|RCV002250464\|RCV002496449;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:1	8	143957129	143957129	8:g.143957129G>A	ClinGen:CA213654	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)	1584	CYP11B1	Likely pathogenic	-1	RCV003468623;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957169	143957169		-
NM_000497.4(CYP11B1):c.955-1G>A	1584	CYP11B1	Likely pathogenic	1456715954	RCV000666001;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957295	143957295	8:g.143957295C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.954+1del	1584	CYP11B1	Likely pathogenic	-1	RCV003468625;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957656	143957656		-
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)	1584	CYP11B1	Likely pathogenic	-1	RCV002307082;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957663	143957664	143957663	-
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)	1584	CYP11B1	Likely pathogenic	375833424	RCV001290136\|RCV002541804;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143957665	143957665	143957665	-
NM_000497.4(CYP11B1):c.937del (p.Ala313fs)	1584	CYP11B1	Likely pathogenic	-1	RCV002306928;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957674	143957674	143957673	-
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)	1584	CYP11B1	Likely pathogenic	375892072	RCV001535982;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957721	143957721	143957721	-
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter)	1584	CYP11B1	Likely pathogenic	1816949224	RCV001264085;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957761	143957761	8:g.143957761G>A	-
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)	1584	CYP11B1	Likely pathogenic	5290	RCV001264086;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957786	143957786	8:g.143957786A>C	-
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)	1584	CYP11B1	Likely pathogenic	-1	RCV002310011;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957797	143957797	143957797	-
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)	1584	CYP11B1	Likely pathogenic	-1	RCV002309563;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957799	143957800	143957799	-
NM_000497.4(CYP11B1):c.799+1G>C	1584	CYP11B1	Likely pathogenic	1554652990	RCV000673530;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958097	143958097	8:g.143958097C>G	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)	1584	CYP11B1	Likely pathogenic	-1	RCV003459901;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958098	143958098		-
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter)	1584	CYP11B1	Likely pathogenic	-1	RCV003388670;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958099	143958099		-
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)	1584	CYP11B1	Likely pathogenic	-1	RCV002309163;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958103	143958104	143958102	-
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)	1584	CYP11B1	Likely pathogenic	-1	RCV002309422;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958145	143958146	143958145	-
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)	1584	CYP11B1	Likely pathogenic	-1	RCV003468618;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958166	143958182		-
NM_000497.4(CYP11B1):c.712dup (p.Met238fs)	1584	CYP11B1	Likely pathogenic	-1	RCV002306490;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958184	143958185	143958184	-
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)	1584	CYP11B1	Likely pathogenic	-1	RCV002308096;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958203	143958203	143958203	-
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)	1584	CYP11B1	Likely pathogenic	-1	RCV002309467;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958203	143958204	143958203	-
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)	1584	CYP11B1	Likely pathogenic	-1	RCV002307203;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958233	143958234	143958232	-
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter)	1584	CYP11B1	Likely pathogenic	1479660166	RCV001264087;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958609	143958609	8:g.143958609A>T	-
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)	1584	CYP11B1	Likely pathogenic	-1	RCV002306897;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958624	143958624	143958624	-
NM_000497.4(CYP11B1):c.395+1G>C	1584	CYP11B1	Likely pathogenic	1554653514	RCV000673849;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960447	143960447	8:g.143960447C>G	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.360del (p.Arg120fs)	1584	CYP11B1	Likely pathogenic	-1	RCV003468626;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960483	143960483		-
NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter)	1584	CYP11B1	Likely pathogenic	1554653551	RCV000670507;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960539	143960539	8:g.143960539G>A	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter)	1584	CYP11B1	Likely pathogenic	1383321200	RCV000672260;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143961062	143961062	8:g.143961062C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.147del (p.Trp49fs)	1584	CYP11B1	Likely pathogenic	748867146	RCV000674573;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143961083	143961083	8:g.143961083_143961083del	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)	1584	CYP11B1	Likely pathogenic	193922538	RCV000029643\|RCV001852593\|RCV002482915\|RCV003460492;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C	8	143961105	143961105	8:g.143961105G>A	ClinGen:CA213661,UniProtKB:P15538#VAR_074493	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1979G>A	1584	CYP11B1	Uncertain significance	1039347990	RCV001159723\|RCV001159724;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143953810	143953810	8:g.143953810C>T	-
NM_000497.4(CYP11B1):c.*1944G>A	1584	CYP11B1	Uncertain significance	1816825330	RCV001161120\|RCV001161121;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143953845	143953845	8:g.143953845C>T	-
NM_000497.4(CYP11B1):c.*1929A>C	1584	CYP11B1	Uncertain significance	201626683	RCV001161122\|RCV001161123;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143953860	143953860	8:g.143953860T>G	-
NM_000497.4(CYP11B1):c.*1871T>A	1584	CYP11B1	Benign/Likely benign	61752818	RCV000269132\|RCV000310182;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143953918	143953918	NC_000008.10:g.143953918A>T	ClinGen:CA10630428	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1852T>G	1584	CYP11B1	Benign	4736312	RCV000265547\|RCV000364820;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143953937	143953937	NC_000008.10:g.143953937A>C	ClinGen:CA10624924	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1770A>T	1584	CYP11B1	Uncertain significance	369448045	RCV000320538\|RCV000379863;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954019	143954019	NC_000008.10:g.143954019T>A	ClinGen:CA10624926	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1623G>C	1584	CYP11B1	Uncertain significance	997960869	RCV001162681\|RCV001162680;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954166	143954166	8:g.143954166C>G	-
NM_000497.4(CYP11B1):c.*1622C>T	1584	CYP11B1	Uncertain significance	543935807	RCV000261142\|RCV000316337;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954167	143954167	NC_000008.10:g.143954167G>A	ClinGen:CA10627269	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1590G>C	1584	CYP11B1	Uncertain significance	886062733	RCV000281238\|RCV000375733;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954199	143954199	NC_000008.10:g.143954199C>G	ClinGen:CA10630429	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1566G>T	1584	CYP11B1	Benign	1134096	RCV000350010\|RCV000385918;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954223	143954223	NC_000008.10:g.143954223C>A	ClinGen:CA10630368	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1550C>T	1584	CYP11B1	Uncertain significance	1425377435	RCV001164739\|RCV001164738;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954239	143954239	8:g.143954239G>A	-
NM_000497.4(CYP11B1):c.*1512G>A	1584	CYP11B1	Benign/Likely benign	61752814	RCV000307226\|RCV000398997;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954277	143954277	NC_000008.10:g.143954277C>T	ClinGen:CA10630431	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1511C>T	1584	CYP11B1	Uncertain significance	1033272486	RCV001159824\|RCV001159825;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954278	143954278	8:g.143954278G>A	-
NM_000497.4(CYP11B1):c.*1499C>T	1584	CYP11B1	Benign	1134095	RCV000347968\|RCV000400210;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954290	143954290	NC_000008.10:g.143954290G>A	ClinGen:CA10624930	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1476G>C	1584	CYP11B1	Uncertain significance	1325854085	RCV001161229\|RCV001161230;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954313	143954313	8:g.143954313C>G	-
NM_000497.4(CYP11B1):c.*1435T>C	1584	CYP11B1	Uncertain significance	551125657	RCV000303764\|RCV000358563;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954354	143954354	NC_000008.10:g.143954354A>G	ClinGen:CA10630432	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1417G>A	1584	CYP11B1	Benign	61752812	RCV000268559\|RCV000305031;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954372	143954372	NC_000008.10:g.143954372C>T	ClinGen:CA10627270	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1358T>C	1584	CYP11B1	Uncertain significance	886062734	RCV000260308\|RCV000354069;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954431	143954431	8:g.143954431A>G	ClinGen:CA10627281	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1313C>T	1584	CYP11B1	Uncertain significance	973876982	RCV001162779\|RCV001162780;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954476	143954476	8:g.143954476G>A	-
NM_000497.4(CYP11B1):c.*1296A>G	1584	CYP11B1	Uncertain significance	1816841780	RCV001162781\|RCV001162782;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954493	143954493	8:g.143954493T>C	-
NM_000497.4(CYP11B1):c.*1288A>G	1584	CYP11B1	Benign	61752809	RCV000320128\|RCV000356205;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954501	143954501	8:g.143954501T>C	ClinGen:CA10627284	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1264A>C	1584	CYP11B1	Uncertain significance	547356106	RCV001162783\|RCV001162784;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954525	143954525	8:g.143954525T>G	-
NM_000497.4(CYP11B1):c.*1258G>A	1584	CYP11B1	Benign/Likely benign	61752808	RCV000275454\|RCV000330586;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954531	143954531	8:g.143954531C>T	ClinGen:CA10624931	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1253G>T	1584	CYP11B1	Uncertain significance	1816842907	RCV001164850\|RCV001164851;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954536	143954536	8:g.143954536C>A	-
NM_000497.4(CYP11B1):c.*1209C>T	1584	CYP11B1	Uncertain significance	757505651	RCV000295446\|RCV000389700;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954580	143954580	8:g.143954580G>A	ClinGen:CA10627285	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1164G>A	1584	CYP11B1	Uncertain significance	886062735	RCV000326825\|RCV000381423;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954625	143954625	8:g.143954625C>T	ClinGen:CA10627288	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1076C>T	1584	CYP11B1	Benign/Likely benign	61752806	RCV000283544\|RCV000397287;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954713	143954713	8:g.143954713G>A	ClinGen:CA10624932	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1042A>G	1584	CYP11B1	Benign	7003319	RCV000343186\|RCV000401464\|RCV001636998;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143954747	143954747	8:g.143954747T>C	ClinGen:CA10630434	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1020C>T	1584	CYP11B1	Benign	5017238	RCV000297239\|RCV000356758\|RCV001712765;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143954769	143954769	8:g.143954769G>A	ClinGen:CA10630436	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*1012A>C	1584	CYP11B1	Uncertain significance	1816847260	RCV001161343\|RCV001161344;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954777	143954777	8:g.143954777T>G	-
NM_000497.4(CYP11B1):c.*946G>A	1584	CYP11B1	Uncertain significance	1312537684	RCV001161345\|RCV001161346;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954843	143954843	8:g.143954843C>T	-
NM_000497.4(CYP11B1):c.*923G>C	1584	CYP11B1	Benign	61752805	RCV000312470\|RCV000400670\|RCV001533939;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143954866	143954866	8:g.143954866C>G	ClinGen:CA10627290	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*901G>A	1584	CYP11B1	Uncertain significance	748103274	RCV000277343\|RCV000367235;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954888	143954888	8:g.143954888C>T	ClinGen:CA10627295	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*857T>C	1584	CYP11B1	Uncertain significance	370725779	RCV000332454\|RCV000363817;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143954932	143954932	8:g.143954932A>G	ClinGen:CA10630437	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*848C>T	1584	CYP11B1	Conflicting interpretations of pathogenicity	149520110	RCV000269207\|RCV000328910;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143954941	143954941	8:g.143954941G>A	ClinGen:CA10630438	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*738G>A	1584	CYP11B1	Benign	5304	RCV000284379\|RCV000383461\|RCV001594998;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143955051	143955051	NC_000008.10:g.143955051C>T	ClinGen:CA10630373	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*718T>G	1584	CYP11B1	Benign/Likely benign	189479208	RCV000285529\|RCV000335804;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955071	143955071	NC_000008.10:g.143955071A>C	ClinGen:CA10630376	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*694T>C	1584	CYP11B1	Benign	5303	RCV000282385\|RCV000394822\|RCV001594999;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143955095	143955095	NC_000008.10:g.143955095A>G	ClinGen:CA10624937	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*670A>C	1584	CYP11B1	Uncertain significance	879537131	RCV000337434\|RCV000394825;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143955119	143955119	NC_000008.10:g.143955119T>G	ClinGen:CA10624939	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*634G>A	1584	CYP11B1	Benign/Likely benign	1137481	RCV000311738\|RCV000371065;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143955155	143955155	NC_000008.10:g.143955155C>T	ClinGen:CA10624943	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*614C>T	1584	CYP11B1	Uncertain significance	772616356	RCV001160056\|RCV001160057;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955175	143955175	8:g.143955175G>A	-
NM_000497.4(CYP11B1):c.*613A>G	1584	CYP11B1	Uncertain significance	1137480	RCV000308215\|RCV000401714;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955176	143955176	NC_000008.10:g.143955176T>C	ClinGen:CA10630377	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*607C>T	1584	CYP11B1	Uncertain significance	1816856226	RCV001161463\|RCV001161464;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143955182	143955182	8:g.143955182G>A	-
NM_000497.4(CYP11B1):c.*596C>A	1584	CYP11B1	Uncertain significance	1816856315	RCV001161465\|RCV001161466;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955193	143955193	8:g.143955193G>T	-
NM_000497.4(CYP11B1):c.*516A>G	1584	CYP11B1	Benign	5301	RCV000273065\|RCV000363072;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143955273	143955273	NC_000008.10:g.143955273T>C	ClinGen:CA10630378	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*516A>T	1584	CYP11B1	Uncertain significance	5301	RCV001161468\|RCV001161467;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955273	143955273	8:g.143955273T>A	-
NM_000497.4(CYP11B1):c.*495C>T	1584	CYP11B1	Uncertain significance	886062736	RCV000309572\|RCV000359595;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955294	143955294	NC_000008.10:g.143955294G>A	ClinGen:CA10624944	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*485C>G	1584	CYP11B1	Uncertain significance	886062737	RCV000264968\|RCV000324878;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955304	143955304	NC_000008.10:g.143955304G>C	ClinGen:CA10630393	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*471A>C	1584	CYP11B1	Benign	12543598	RCV000259195\|RCV000379427;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955318	143955318	NC_000008.10:g.143955318T>G	ClinGen:CA10624947	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*468C>T	1584	CYP11B1	Benign/Likely benign	114832894	RCV000319051\|RCV000375946;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143955321	143955321	NC_000008.10:g.143955321G>A	ClinGen:CA10630443	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*400C>T	1584	CYP11B1	Uncertain significance	61752801	RCV000293179\|RCV000350476;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143955389	143955389	NC_000008.10:g.143955389G>A	ClinGen:CA10630398	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*390A>G	1584	CYP11B1	Uncertain significance	558749828	RCV001165080\|RCV001165079;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955399	143955399	8:g.143955399T>C	-
NM_000497.4(CYP11B1):c.*345C>A	1584	CYP11B1	Uncertain significance	368195405	RCV001158367\|RCV001158368;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955444	143955444	8:g.143955444G>T	-
NM_000497.4(CYP11B1):c.*318A>G	1584	CYP11B1	Benign	5299	RCV000296570\|RCV000388596;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955471	143955471	NC_000008.10:g.143955471T>C	ClinGen:CA10630399	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*317T>C	1584	CYP11B1	Uncertain significance	567623158	RCV001158369\|RCV001158370;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955472	143955472	8:g.143955472A>G	-
NM_000497.4(CYP11B1):c.*245C>G	1584	CYP11B1	Uncertain significance	538608688	RCV000344586\|RCV000396632;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955544	143955544	NC_000008.10:g.143955544G>C	ClinGen:CA10630402	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*244C>T	1584	CYP11B1	Uncertain significance	1816862781	RCV001161579\|RCV001161580;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143955545	143955545	8:g.143955545G>A	-
NM_000497.4(CYP11B1):c.*193A>T	1584	CYP11B1	Benign/Likely benign	61752798	RCV000309315\|RCV000347855;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955596	143955596	NC_000008.10:g.143955596T>A	ClinGen:CA10627300	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.*193A>C	1584	CYP11B1	Benign/Likely benign	61752798	RCV001161581\|RCV001161582;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143955596	143955596	8:g.143955596T>G	-
NM_000497.4(CYP11B1):c.*132T>C	1584	CYP11B1	Benign	5297	RCV000303302\|RCV000398771\|RCV001653733;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143955657	143955657	NC_000008.10:g.143955657A>G	ClinGen:CA10630404	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	776766470	RCV000268296\|RCV000360638\|RCV001425759;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN517202	8	143955813	143955813	NC_000008.10:g.143955813G>A	ClinGen:CA4904939	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs)	1584	CYP11B1	Conflicting interpretations of pathogenicity	1554652528	RCV000667414\|RCV003420179;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|	8	143955815	143955815	8:g.143955815_143955815del	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	373736765	RCV001163110\|RCV001163111\|RCV001408631\|RCV003155365;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202\|MedGen:CN169374	8	143955836	143955836	8:g.143955836A>G	-
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)	1584	CYP11B1	Conflicting interpretations of pathogenicity	374517238	RCV000354829\|RCV000665161\|RCV000711398;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143955850	143955850	NC_000008.10:g.143955850A>T	ClinGen:CA4904948	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=)	1584	CYP11B1	Likely benign	576292844	RCV001421231\|RCV002499904;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143955861	143955861	143955861	-
NM_000497.4(CYP11B1):c.1399-14G>C	1584	CYP11B1	Benign	5295	RCV000261882\|RCV000319378\|RCV000518677\|RCV002058705;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN169374\|MedGen:C3661900	8	143955916	143955916	NC_000008.10:g.143955916C>G	ClinGen:CA4904966	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=)	1584	CYP11B1	Likely benign	775013399	RCV001450223\|RCV002501579;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143956382	143956382	143956382	-
NM_000497.4(CYP11B1):c.1385del (p.Leu462fs)	1584	CYP11B1	Uncertain significance	2130266058	RCV002251276;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956386	143956386	143956385	-
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=)	1584	CYP11B1	Benign/Likely benign	5316	RCV000274881\|RCV000385679\|RCV000517786\|RCV000873561;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374\|MedGen:C3661900	8	143956418	143956418	NC_000008.10:g.143956418A>G	ClinGen:CA4905012	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)	1584	CYP11B1	Uncertain significance	754432887	RCV000670970\|RCV002477503\|RCV002509501;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374	8	143956491	143956491	8:g.143956491C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=)	1584	CYP11B1	Benign/Likely benign	4998902	RCV000516859\|RCV002496996;	N	MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956505	143956505	8:g.143956505G>A	ClinGen:CA4905037	CN169374 not specified;
NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala)	1584	CYP11B1	Uncertain significance	-1	RCV003004834\|RCV003333809;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956531	143956531	NC_000008.10:g.143956531G>C	-
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=)	1584	CYP11B1	Likely benign	765770519	RCV001403255\|RCV002488218;	N	MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956544	143956544	143956544	-
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser)	1584	CYP11B1	Uncertain significance	886062738	RCV000332351\|RCV000389302\|RCV002504183;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956566	143956566	NC_000008.10:g.143956566A>G	ClinGen:CA10630459	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1200+11C>T	1584	CYP11B1	Conflicting interpretations of pathogenicity	753651666	RCV001165191\|RCV001165190;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143956639	143956639	8:g.143956639G>A	-
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val)	1584	CYP11B1	Benign	4541	RCV000287487\|RCV000344753\|RCV001515368;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143956693	143956693	NC_000008.10:g.143956693G>A	ClinGen:CA4905091,UniProtKB:P15538#VAR_014150	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu)	1584	CYP11B1	Uncertain significance	4541	RCV000665278;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956693	143956693	8:g.143956693G>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)	1584	CYP11B1	Uncertain significance	1412048304	RCV000673616;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956705	143956705	8:g.143956705A>C	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	5293	RCV000029641\|RCV000291528\|RCV000874744\|RCV001095138;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956706	143956706	8:g.143956706G>A	ClinGen:CA213658	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1122-20A>G	1584	CYP11B1	Conflicting interpretations of pathogenicity	61752794	RCV000029640\|RCV000711394\|RCV001250135;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143956748	143956748	8:g.143956748T>C	ClinGen:CA213657	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)	1584	CYP11B1	Benign/Likely benign	61752786	RCV000029637\|RCV000397180\|RCV000454869\|RCV000711393\|RCV002477018;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C383873	8	143957129	143957129	8:g.143957129G>T	ClinGen:CA213652	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly)	1584	CYP11B1	Conflicting interpretations of pathogenicity	368944209	RCV000670290\|RCV001868241\|RCV003420186;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|	8	143957137	143957137	8:g.143957137T>C	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)	1584	CYP11B1	Benign/Likely benign	61752769	RCV000304249\|RCV000342727\|RCV000517718\|RCV002488811;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orph	8	143957151	143957151	NC_000008.10:g.143957151A>C	ClinGen:CA4905152	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	754660381	RCV000298406\|RCV000401066\|RCV000918087;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202	8	143957159	143957159	NC_000008.10:g.143957159A>G	ClinGen:CA4905159	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=)	1584	CYP11B1	Benign	6403	RCV000357120\|RCV000400145\|RCV001512038;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143957163	143957163	NC_000008.10:g.143957163C>G	ClinGen:CA4905162	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr)	1584	CYP11B1	Conflicting interpretations of pathogenicity	6407	RCV000312683\|RCV000369678\|RCV000503743\|RCV002058706;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN169374\|MedGen:C3661900	8	143957207	143957207	NC_000008.10:g.143957207C>T	ClinGen:CA4905172,UniProtKB:P15538#VAR_014149	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=)	1584	CYP11B1	Likely benign	776234575	RCV000911629\|RCV002502738;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957211	143957211	8:g.143957211G>A	-
NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys)	1584	CYP11B1	Uncertain significance	1554652796	RCV000625626;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957222	143957222	8:g.143957222C>T	ClinGen:CA372394111	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser)	1584	CYP11B1	Uncertain significance	372115638	RCV000665440\|RCV002281122\|RCV002477481;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957228	143957228	8:g.143957228G>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile)	1584	CYP11B1	Uncertain significance	193922535	RCV000029635\|RCV002482914;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957233	143957234	NC_000008.10:g.143957233_143957234delinsAT	ClinGen:CA213648	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr)	1584	CYP11B1	Uncertain significance	193922534	RCV000029634\|RCV000516792\|RCV002477017;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MedGen:CN169374\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957234	143957234	8:g.143957234C>T	ClinGen:CA213646	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	151335623	RCV000277689\|RCV000325754\|RCV000499909\|RCV000877389;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN169374\|MedGen:C3661900	8	143957235	143957235	NC_000008.10:g.143957235C>T	ClinGen:CA4905181	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)	1584	CYP11B1	Conflicting interpretations of pathogenicity	61752766	RCV000029633\|RCV000271806\|RCV000518202\|RCV000874647\|RCV001095249;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957246	143957246	8:g.143957246T>C	ClinGen:CA213644	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=)	1584	CYP11B1	Benign/Likely benign	61752765	RCV000874906\|RCV002501336;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957261	143957261	8:g.143957261G>A	-
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=)	1584	CYP11B1	Uncertain significance	762599130	RCV001163211\|RCV001163212;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957292	143957292	8:g.143957292C>T	-
NM_000497.4(CYP11B1):c.955-15_955-1del	1584	CYP11B1	Uncertain significance	1554652823	RCV000664656;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957295	143957309	8:g.143957295_143957309del	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.954+31G>A	1584	CYP11B1	Uncertain significance	2130272862	RCV001807988;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957626	143957626	143957626	-
NM_000497.4(CYP11B1):c.954+9G>C	1584	CYP11B1	Conflicting interpretations of pathogenicity	6411	RCV000329356\|RCV000376915\|RCV001479988;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202	8	143957648	143957648	NC_000008.10:g.143957648C>G	ClinGen:CA4905241	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.948G>C (p.Val316=)	1584	CYP11B1	Likely benign	778295450	RCV001480482\|RCV002488284;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957663	143957663	143957663	-
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=)	1584	CYP11B1	Benign/Likely benign	372647044	RCV000874770\|RCV002501333;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957666	143957666	8:g.143957666G>A	-
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=)	1584	CYP11B1	Likely benign	148707144	RCV000284859\|RCV000323554\|RCV000874014;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143957681	143957681	NC_000008.10:g.143957681T>C	ClinGen:CA4905249	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.928G>A (p.Glu310Lys)	1584	CYP11B1	not provided	387907574	RCV000050226;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957683	143957683	8:g.143957683C>T	ClinGen:CA344783,UniProtKB:P15538#VAR_074514	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met)	1584	CYP11B1	Uncertain significance	751843934	RCV001165312\|RCV001165311;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957699	143957699	8:g.143957699G>C	-
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)	1584	CYP11B1	Uncertain significance	202091168	RCV001665494\|RCV002502010;	N	MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957712	143957712	143957712	-
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=)	1584	CYP11B1	Benign	34570566	RCV000278114\|RCV000380524\|RCV000518376\|RCV001512123;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374\|MedGen:C3661900	8	143957738	143957738	NC_000008.10:g.143957738C>T	ClinGen:CA4905272	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.842G>A (p.Ser281Asn)	1584	CYP11B1	Uncertain significance	-1	RCV003333836;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957769	143957769		-
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr)	1584	CYP11B1	Uncertain significance	751047685	RCV000484244\|RCV002481537;	N	MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143957776	143957776	8:g.143957776C>T	ClinGen:CA4905285	CN169374 not specified;
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	5290	RCV000335488\|RCV000395358\|RCV000873646\|RCV001289403;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900\|MedGen:CN169374	8	143957786	143957786	NC_000008.10:g.143957786A>G	ClinGen:CA4905287	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His)	1584	CYP11B1	Conflicting interpretations of pathogenicity	141368413	RCV000282706\|RCV000349385\|RCV000875628;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143957788	143957788	NC_000008.10:g.143957788A>G	ClinGen:CA4905288	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn)	1584	CYP11B1	Uncertain significance	748180875	RCV001158582\|RCV001158583;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957809	143957809	8:g.143957809C>T	-
NM_000497.4(CYP11B1):c.800-14C>T	1584	CYP11B1	Benign	4535	RCV000314377\|RCV000395352\|RCV000516230;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143957825	143957825	NC_000008.10:g.143957825G>A	ClinGen:CA4905304	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.800-45C>T	1584	CYP11B1	Benign	7822986	RCV001636216\|RCV001658357;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143957856	143957856	143957856	-
NM_000497.4(CYP11B1):c.799+17G>A	1584	CYP11B1	Benign/Likely benign	61751156	RCV002122180\|RCV002494226;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958081	143958081	143958081	-
NM_000497.4(CYP11B1):c.799+5G>C	1584	CYP11B1	Conflicting interpretations of pathogenicity	193922542	RCV000029649\|RCV000517998\|RCV000665430\|RCV002504827;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen	8	143958093	143958093	8:g.143958093C>G	ClinGen:CA213671	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser)	1584	CYP11B1	Uncertain significance	753471858	RCV000371156\|RCV000401123;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958149	143958149	NC_000008.10:g.143958149G>A	ClinGen:CA4905324	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.748C>A (p.Pro250Thr)	1584	CYP11B1	Uncertain significance	-1	RCV003333866;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958149	143958149		-
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn)	1584	CYP11B1	Uncertain significance	1816964007	RCV001158585\|RCV001158584;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958151	143958151	8:g.143958151C>T	-
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile)	1584	CYP11B1	Benign/Likely benign	34620645	RCV000308366\|RCV000365375\|RCV000422800\|RCV000873572;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN169374\|MedGen:C3661900	8	143958154	143958154	NC_000008.10:g.143958154G>A	ClinGen:CA4905325,UniProtKB:P15538#VAR_048462	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys)	1584	CYP11B1	Conflicting interpretations of pathogenicity	777913851	RCV001161806\|RCV001161805;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958161	143958161	8:g.143958161G>A	-
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=)	1584	CYP11B1	Likely benign	199525592	RCV000876868\|RCV002495323;	N	MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958252	143958252	8:g.143958252G>A	-
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del)	1584	CYP11B1	Uncertain significance	1554653044	RCV000665111;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958257	143958265	8:g.143958257_143958265del	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)	1584	CYP11B1	Uncertain significance	368125568	RCV001161807\|RCV001161808;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958265	143958265	8:g.143958265A>G	-
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=)	1584	CYP11B1	Likely benign	1377203108	RCV002108002\|RCV002494241;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958270	143958270	143958270	-
NM_000497.4(CYP11B1):c.623G>A (p.Arg208Gln)	1584	CYP11B1	Uncertain significance	200559974	RCV001667865\|RCV002539671;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143958274	143958274	143958274	-
NM_000497.4(CYP11B1):c.623G>C (p.Arg208Pro)	1584	CYP11B1	Uncertain significance	-1	RCV003388240;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958274	143958274		-
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	61751154	RCV000272874\|RCV000320919\|RCV000877983;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN517202	8	143958291	143958291	NC_000008.10:g.143958291C>T	ClinGen:CA4905360	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.596-8C>T	1584	CYP11B1	Likely benign	1201914437	RCV001397543\|RCV002493949;	N	MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958309	143958309	143958309	-
NM_000497.4(CYP11B1):c.596-41C>T	1584	CYP11B1	Benign	113759408	RCV001250134\|RCV001655702;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143958342	143958342	8:g.143958342G>A	-
NM_000497.4(CYP11B1):c.595+14G>A	1584	CYP11B1	Uncertain significance	1208266252	RCV001163321\|RCV001163322;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958425	143958425	8:g.143958425C>T	-
NM_000497.4(CYP11B1):c.595+12G>A	1584	CYP11B1	Benign	6387	RCV000266926\|RCV000359290\|RCV001529766\|RCV001512039;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374\|MedGen:C3661900	8	143958427	143958427	NC_000008.10:g.143958427C>T	ClinGen:CA4905393	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.595+1G>A	1584	CYP11B1	Conflicting interpretations of pathogenicity	1264073726	RCV000667755\|RCV000732722\|RCV003230566;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418	8	143958438	143958438	8:g.143958438C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=)	1584	CYP11B1	Likely benign	772530391	RCV000871336\|RCV002501307;	N	MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958473	143958473	8:g.143958473G>A	-
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser)	1584	CYP11B1	Benign/Likely benign	566921201	RCV000324614\|RCV000372260\|RCV000711404;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143958480	143958480	NC_000008.10:g.143958480G>C	ClinGen:CA4905406	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro)	1584	CYP11B1	Conflicting interpretations of pathogenicity	146105017	RCV001165421\|RCV001165420\|RCV002559585;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202	8	143958492	143958492	8:g.143958492C>G	-
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp)	1584	CYP11B1	Uncertain significance	373856010	RCV001165423\|RCV001165422\|RCV002483922;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958493	143958493	8:g.143958493G>A	-
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr)	1584	CYP11B1	Uncertain significance	140123041	RCV000711403\|RCV002477644;	N	MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958496	143958496	NC_000008.10:g.143958496C>T	-
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=)	1584	CYP11B1	Likely benign	779461311	RCV001416128\|RCV002488232;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958497	143958497	143958497	-
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del)	1584	CYP11B1	Uncertain significance	535861895	RCV000664716\|RCV002477478;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958509	143958511	8:g.143958509_143958511del	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)	1584	CYP11B1	Conflicting interpretations of pathogenicity	1554653185	RCV000673116;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958540	143958540	8:g.143958540G>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro)	1584	CYP11B1	Uncertain significance	1554653191	RCV000672937;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958561	143958561	8:g.143958561A>G	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=)	1584	CYP11B1	Benign/Likely benign	61751150	RCV000875264\|RCV002507532;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958575	143958575	8:g.143958575A>G	-
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)	1584	CYP11B1	Uncertain significance	200151403	RCV001817652\|RCV002478062;	N	MedGen:CN169374\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958577	143958577	143958577	-
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)	1584	CYP11B1	Likely benign	61751149	RCV000875265\|RCV001644852\|RCV002487923;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958578	143958578	8:g.143958578G>C	-
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	778556211	RCV001165425\|RCV001165424\|RCV001405078;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143958584	143958584	8:g.143958584C>T	-
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)	1584	CYP11B1	Conflicting interpretations of pathogenicity	142484434	RCV000779553\|RCV001165426;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958585	143958585	NC_000008.10:g.143958585G>A	-
NM_000497.4(CYP11B1):c.446T>C (p.Leu149Pro)	1584	CYP11B1	Uncertain significance	1554653200	RCV000625625;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958588	143958588	8:g.143958588A>G	ClinGen:CA372396136	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)	1584	CYP11B1	Conflicting interpretations of pathogenicity	267601810	RCV000673573\|RCV000711402\|RCV003421968;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|	8	143958612	143958612	8:g.143958612C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)	1584	CYP11B1	Conflicting interpretations of pathogenicity	193922540	RCV000029647\|RCV001158699\|RCV001165427;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143958621	143958621	8:g.143958621C>T	ClinGen:CA213668	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)	1584	CYP11B1	Conflicting interpretations of pathogenicity	764251434	RCV000668003\|RCV002530733;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143958622	143958622	8:g.143958622G>A	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.396-9C>T	1584	CYP11B1	Likely benign	1324660372	RCV002205811\|RCV002494130;	N	MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143958647	143958647	143958647	-
NM_000497.4(CYP11B1):c.395+10G>A	1584	CYP11B1	Likely benign	768465089	RCV000950947\|RCV002502925;	N	MedGen:CN517202\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143960438	143960438	8:g.143960438C>T	-
NM_000497.4(CYP11B1):c.395+9C>T	1584	CYP11B1	Conflicting interpretations of pathogenicity	61751140	RCV000501378\|RCV000872189\|RCV001158700\|RCV001158701;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960439	143960439	NC_000008.10:g.143960439G>A	ClinGen:CA4905530	CN169374 not specified;
NM_000497.4(CYP11B1):c.395+6C>T	1584	CYP11B1	Conflicting interpretations of pathogenicity	553707049	RCV000877600\|RCV001158702\|RCV001158703\|RCV001817042;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374	8	143960442	143960442	8:g.143960442G>A	-
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met)	1584	CYP11B1	Uncertain significance	377423817	RCV000673379\|RCV001158704\|RCV002477506;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143960458	143960458	8:g.143960458C>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.375C>G (p.His125Gln)	1584	CYP11B1	Conflicting interpretations of pathogenicity	201137503	RCV000280074\|RCV000318740\|RCV000878847;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN517202	8	143960468	143960468	NC_000008.10:g.143960468G>C	ClinGen:CA4905542	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg)	1584	CYP11B1	Uncertain significance	757389720	RCV000671379;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960469	143960469	8:g.143960469T>C	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly)	1584	CYP11B1	Conflicting interpretations of pathogenicity	772733691	RCV000668604\|RCV001161915\|RCV001868223;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143960497	143960497	8:g.143960497A>C	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg)	1584	CYP11B1	Uncertain significance	770400476	RCV001161916\|RCV001161917;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960509	143960509	8:g.143960509T>G	-
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=)	1584	CYP11B1	Likely benign	143211108	RCV000874651\|RCV002501331;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143960549	143960549	8:g.143960549C>T	-
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=)	1584	CYP11B1	Likely benign	778601992	RCV001445243\|RCV002495626;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143960573	143960573	143960573	-
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr)	1584	CYP11B1	Uncertain significance	1817062027	RCV001161918\|RCV001161919;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960580	143960580	8:g.143960580A>G	-
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=)	1584	CYP11B1	Benign	5283	RCV000293653\|RCV000385596\|RCV001528546\|RCV001512040;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:CN169374\|MedGen:C3661900	8	143960597	143960597	NC_000008.10:g.143960597G>A	ClinGen:CA4905577	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn)	1584	CYP11B1	Conflicting interpretations of pathogenicity	762347776	RCV001161920\|RCV001163438;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143960599	143960599	8:g.143960599C>T	-
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)	1584	CYP11B1	Conflicting interpretations of pathogenicity	9657022	RCV000029644\|RCV000398212\|RCV000874015\|RCV001095256;	N	Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143960600	143960600	8:g.143960600G>A	ClinGen:CA213663	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.239+20T>A	1584	CYP11B1	Benign	6388	RCV001250133\|RCV001675986;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900	8	143960971	143960971	8:g.143960971A>T	-
NM_000497.4(CYP11B1):c.239+13C>A	1584	CYP11B1	Benign	6402	RCV000287575\|RCV000344850\|RCV001289402\|RCV001707684;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374\|MedGen:C3661900	8	143960978	143960978	NC_000008.10:g.143960978G>T	ClinGen:CA4905672	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)	1584	CYP11B1	Conflicting interpretations of pathogenicity	1489638195	RCV000665385\|RCV002271551;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418	8	143960995	143960995	8:g.143960995A>T	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=)	1584	CYP11B1	Benign	6410	RCV000309802\|RCV000396739\|RCV001529237\|RCV001512041;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:CN169374\|MedGen:C3661900	8	143961005	143961005	NC_000008.10:g.143961005T>C	ClinGen:CA4905677	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=)	1584	CYP11B1	Likely benign	200096159	RCV002488279\|RCV001477677;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143961008	143961008	143961008	-
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg)	1584	CYP11B1	Uncertain significance	371662064	RCV001163728\|RCV001163727;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143961012	143961012	8:g.143961012T>C	-
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg)	1584	CYP11B1	Uncertain significance	747287245	RCV001163729\|RCV001163730;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143961024	143961024	8:g.143961024T>C	-
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)	1584	CYP11B1	Conflicting interpretations of pathogenicity	5282	RCV000668553\|RCV002282305;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|Human Phenotype Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627, Orphanet:418	8	143961043	143961043	8:g.143961043C>G	-	C0268292 202010 Deficiency of steroid 11-beta-monooxygenase;
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)	1584	CYP11B1	Likely benign	61751135	RCV001463995\|RCV002495673;	N	MedGen:C3661900\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795; MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403	8	143961073	143961073	143961073	-
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln)	1584	CYP11B1	Benign/Likely benign	4534	RCV000339466\|RCV000398709\|RCV001515369\|RCV001805029;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MedGen:C3661900\|MedGen:CN169374	8	143961102	143961102	NC_000008.10:g.143961102C>T	ClinGen:CA4905708,UniProtKB:P15538#VAR_014146	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg)	1584	CYP11B1	Uncertain significance	755448048	RCV001158809\|RCV001163731;	N	MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143961123	143961123	8:g.143961123A>C	-
NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala)	1584	CYP11B1	Conflicting interpretations of pathogenicity	201951316	RCV000304435\|RCV000361436\|RCV000876416;	N	MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403\|MedGen:C3661900	8	143961126	143961126	NC_000008.10:g.143961126A>G	ClinGen:CA4905712	C0001627 Congenital adrenal hyperplasia;
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln)	1584	CYP11B1	Likely benign	201103987	RCV000945460\|RCV002488023;	N	MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143961141	143961141	8:g.143961141C>T	-
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)	1584	CYP11B1	Likely benign	6405	RCV001358047\|RCV002493832;	N	MedGen:C3661900\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143961201	143961201	143961201	-
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala)	1584	CYP11B1	Uncertain significance	1554653718	RCV000517023\|RCV002481671;	N	MedGen:CN169374\|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900, Orphanet:403; MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010, Orphanet:90795	8	143961204	143961204	8:g.143961204A>G	ClinGen:CA372397485	CN169374 not specified;

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