CYP11B2 (cytochrome P450 family 11 subfamily B member 2)

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Gene: CYP11B2 (cytochrome P450 family 11 subfamily B member 2) Homo sapiens

Analyze

Symbol:

CYP11B2

Name:

cytochrome P450 family 11 subfamily B member 2

RGD ID:

736494

HGNC Page

HGNC:2592

Description:

Enables heme binding activity and steroid 11-beta-monooxygenase activity. Involved in several processes, including cellular response to potassium ion; regulation of blood volume by renal aldosterone; and steroid hormone biosynthetic process. Located in mitochondrion. Implicated in corticosterone methyloxidase deficiency 1; diabetes mellitus (multiple); dilated cardiomyopathy 1H; hypertension (multiple); and primary hyperaldosteronism. Biomarker of adrenal cortical adenoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ALDOS; aldosterone synthase; aldosterone-synthesizing enzyme; corticosterone 18-monooxygenase, CYP11B2; CPN2; CYP11B; CYP11BL; CYPXIB2; cytochrome P-450Aldo; cytochrome P-450C18; cytochrome P450 11B2, mitochondrial; cytochrome P450, family 11, subfamily B, polypeptide 2; cytochrome p450, subfamily 11b, polypeptide 2; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2; mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2; P-450C18; P450aldo; P450C18; steroid 11-beta-hydroxylase, CYP11B2; steroid 11-beta-monooxygenase; steroid 11-beta/18-hydroxylase; steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	142,910,559 - 142,917,843 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	142,910,559 - 142,917,843 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	143,991,975 - 143,999,259 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	143,988,977 - 143,996,261 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	143,988,976 - 143,996,261	NCBI
Celera	8	140,301,421 - 140,308,694 (-)	NCBI		Celera
Cytogenetic Map	8	q24.3	NCBI
HuRef	8	139,244,244 - 139,251,515 (-)	NCBI		HuRef
CHM1_1	8	144,032,236 - 144,039,525 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	144,053,900 - 144,061,172 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adrenal cortical adenoma (IEP)

Albuminuria (ISO)

autism spectrum disorder (EXP)

Cardiomegaly (ISO)

congestive heart failure (ISO)

corticosterone methyloxidase deficiency 1 (EXP,IAGP)

diabetes mellitus (IAGP)

Diabetic Nephropathies (IAGP)

dilated cardiomyopathy 1H (IAGP)

epidermolysis bullosa simplex with muscular dystrophy (IAGP)

Experimental Diabetes Mellitus (ISO)

Fetal Growth Retardation (ISO)

Fibrosis (ISO)

genetic disease (IAGP)

glucocorticoid-remediable aldosteronism (EXP,IAGP)

heart disease (ISO)

holoprosencephaly (IAGP)

hypertension (IAGP,ISO)

Hypoaldosteronism (EXP,IAGP)

Left Ventricular Hypertrophy (IAGP)

Metabolic Syndrome (IAGP)

myocardial infarction (ISO)

myocarditis (ISO)

pre-eclampsia (IAGP)

primary hyperaldosteronism (EXP,IAGP)

Prostatic Neoplasms (EXP)

renal tubular acidosis (ISO)

Stroke (IAGP)

type 2 diabetes mellitus (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

11-deoxycorticosterone (EXP)

11-deoxycortisol (EXP)

18-hydroxycortisol (EXP)

18-hydroxydeoxycorticosterone (EXP)

18-oxocortisol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP,ISO)

2,3',4,4',5-Pentachlorobiphenyl (EXP)

2,3,3',4,4',5-Hexachlorobiphenyl (EXP)

2,3,7,8-tetrabromodibenzodioxine (EXP)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4,6-tribromophenol (EXP)

2,4-dibromophenol (EXP)

2,6-dibromophenol (EXP)

2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one (EXP)

3,3',4,4',5-pentachlorobiphenyl (EXP)

3,3',4,4'-tetrachlorobiphenyl (EXP)

3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol (EXP)

3,4,5,3',4',5'-Hexachlorobiphenyl (EXP)

4,4'-sulfonyldiphenol (EXP)

4-(5,6,7,8-tetrahydroimidazo[1,5-a]pyridin-5-yl)benzonitrile (EXP)

6-propyl-2-thiouracil (ISO)

8-Br-cAMP (EXP)

acenaphthenes (EXP)

Acetyl tributyl citrate (EXP)

aldehydo-D-glucose (ISO)

aldosterone (EXP,ISO)

alternariol (EXP)

ammonium chloride (ISO)

amoxicillin (EXP)

androgen antagonist (ISO)

Bay-K-8644 (EXP)

benazepril (EXP)

benidipine (EXP)

benzo[a]pyrene (EXP)

benzofurans (EXP)

bifenthrin (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

bucladesine (EXP)

Butylbenzyl phthalate (ISO)

C60 fullerene (ISO)

caffeine (ISO)

calmidazolium (EXP)

candesartan (EXP,ISO)

Candesartan cilexetil (ISO)

carbamazepine (EXP)

chlorohydrocarbon (EXP)

clofibrate (ISO)

colforsin daropate hydrochloride (EXP)

copper atom (ISO)

copper(0) (ISO)

corticosterone (EXP)

Cuprizon (ISO)

cyproconazole (ISO)

D-glucose (ISO)

DDE (ISO)

deoxynivalenol (EXP)

Di-n-hexyl phthalate (ISO)

dibutyl phthalate (ISO)

Dicyclohexyl phthalate (ISO)

diethyl phthalate (ISO)

diisobutyl phthalate (ISO)

Diisodecyl phthalate (ISO)

diisononyl phthalate (ISO)

dimethyl sulfoxide (ISO)

dipentyl phthalate (ISO)

dutasteride (EXP)

endosulfan (ISO)

enniatin (EXP)

epoxiconazole (ISO)

erythromycin A (EXP)

gamma-hexachlorocyclohexane (EXP)

gentamycin (ISO)

glucose (ISO)

glycyrrhizinic acid (ISO)

hydrochlorothiazide (ISO)

hydroxyitraconazole (EXP)

imidapril (EXP)

irbesartan (EXP)

itraconazole (EXP)

ketoconazole (EXP)

KN-93 (EXP)

Methandrostenolone (EXP)

methylmercury chloride (EXP)

Mibefradil (EXP)

Mitotane (EXP)

mycotoxin (EXP)

N-acetyl-L-cysteine (EXP)

naringin (EXP)

nitroglycerin (ISO)

paracetamol (ISO)

perflubron (EXP)

perfluorooctane-1-sulfonic acid (EXP)

phenylephrine (ISO)

phorbol 13-acetate 12-myristate (EXP)

pirinixic acid (ISO)

posaconazole (EXP)

potassium atom (EXP,ISO)

potassium chloride (EXP)

potassium dichromate (ISO)

proanthocyanidin (EXP)

rotenone (EXP)

simvastatin (ISO)

sodium arsenite (EXP)

sodium atom (EXP)

sodium chloride (ISO)

spironolactone (ISO)

streptozocin (ISO)

testosterone (EXP)

torasemide (ISO)

torcetrapib (EXP)

triadimefon (ISO)

tributylstannane (EXP)

trichloroethene (ISO)

triphenylstannane (EXP)

Triptolide (EXP)

tris(2-chloroethyl) phosphate (EXP)

valproic acid (EXP)

valsartan (ISO)

vitamin E (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adrenal gland development (ISO)

aldosterone biosynthetic process (IBA,IDA,IMP,ISO)

C21-steroid hormone biosynthetic process (IDA)

cellular response to hormone stimulus (IEP)

cellular response to peptide hormone stimulus (IBA)

cellular response to potassium ion (IEP)

cholesterol metabolic process (IBA)

cortisol biosynthetic process (IMP)

cortisol metabolic process (IBA)

drinking behavior (ISO)

glucocorticoid biosynthetic process (IBA)

lipid metabolic process (IEA)

mineralocorticoid biosynthetic process (TAS)

monoatomic ion homeostasis (ISO)

potassium ion homeostasis (IMP)

regulation of blood volume by renal aldosterone (IMP,ISO)

regulation of systemic arterial blood pressure by circulatory renin-angiotensin (ISO)

renal water homeostasis (IC)

response to peptide hormone (ISO)

sodium ion homeostasis (IMP)

steroid biosynthetic process (IEA)

steroid metabolic process (IEA,ISO)

sterol metabolic process (TAS)

Cellular Component

membrane (IEA)

mitochondrial inner membrane (IBA,IC,IEA,TAS)

mitochondrion (IDA,IEA)

Molecular Function

corticosterone 18-monooxygenase activity (IBA,IEA,ISO)

heme binding (IC,IDA,IEA)

iron ion binding (IEA)

metal ion binding (IEA)

monooxygenase activity (IEA)

oxidoreductase activity (IEA)

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (IEA)

steroid 11-beta-monooxygenase activity (IBA,IDA,IEA,ISO,TAS)

steroid hydroxylase activity (TAS)

Molecular Pathway Annotations Click to see Annotation Detail View

11-beta-hydroxylase deficiency pathway (EXP)

17-alpha-hydroxylase deficiency pathway (EXP)

21-alpha-hydroxylase deficiency pathway (EXP)

aldosterone biosynthetic pathway (ISO)

apparent mineralocorticoid excess syndrome pathway (EXP)

C21-steroid hormone biosynthetic pathway (ISS)

lipoid congenital adrenal hyperplasia pathway (EXP)

steroid hormone biosynthetic pathway (EXP,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating corticosterone level (IAGP)

Abnormal circulating renin (IAGP)

Abnormal external genitalia (IAGP)

Adrenal hyperplasia (IAGP)

Arrhinencephaly (IAGP)

Autosomal recessive inheritance (IAGP)

Caesarian section (IAGP)

Decreased circulating aldosterone level (IAGP)

Dehydration (IAGP)

Dexamethasone-suppressible primary hyperaldosteronism (IAGP)

Elevated serum 11-deoxycortisol (IAGP)

Epistaxis (IAGP)

Failure to thrive (IAGP)

Feeding difficulties (IAGP)

Feeding difficulties in infancy (IAGP)

Generalized hypotonia (IAGP)

Glucose intolerance (IAGP)

Growth delay (IAGP)

Headache (IAGP)

Holoprosencephaly (IAGP)

Hyperkalemia (IAGP)

Hypertension (IAGP)

Hypokalemia (IAGP)

Hyponatremia (IAGP)

Hypotension (IAGP)

Increased circulating 18-hydroxycortisone level (IAGP)

Increased circulating corticosterone level (IAGP)

Increased circulating renin level (IAGP)

Intracranial hemorrhage (IAGP)

Muscle weakness (IAGP)

Nausea (IAGP)

Neonatal onset (IAGP)

Orthostatic hypotension (IAGP)

Polydipsia (IAGP)

Postnatal growth retardation (IAGP)

Recurrent fever (IAGP)

Reduced left ventricular ejection fraction (IAGP)

Renal salt wasting (IAGP)

Renal sodium wasting (IAGP)

Secretory adrenocortical adenoma (IAGP)

Tinnitus (IAGP)

Vomiting (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Fetal adrenal gland alterations in a rat model of adverse intrauterine environment.	Bibeau K, etal., Am J Physiol Regul Integr Comp Physiol. 2010 Apr;298(4):R899-911. Epub 2009 Nov 18.
2.	Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2.	Davies E, etal., Hypertension. 1999 Feb;33(2):703-7.
3.	Quantitative assessment of CYP11B1 and CYP11B2 expression in aldosterone-producing adenomas.	Fallo F, etal., Eur J Endocrinol. 2002 Dec;147(6):795-802.
4.	Metabolic acidosis has dual effects on sodium handling by rat kidney.	Faroqui S, etal., Am J Physiol Renal Physiol. 2006 Aug;291(2):F322-31. Epub 2006 Feb 21.
5.	Aldosterone synthase inhibitor ameliorates angiotensin II-induced organ damage.	Fiebeler A, etal., Circulation. 2005 Jun 14;111(23):3087-94. Epub 2005 Jun 6.
6.	Mineralocorticoid receptor antagonist spironolactone prevents pig serum-induced hepatic fibrosis in rats.	Fujisawa G, etal., Transl Res. 2006 Sep;148(3):149-56.
7.	Cardiac specific increase in aldosterone production induces coronary dysfunction in aldosterone synthase-transgenic mice.	Garnier A, etal., Circulation. 2004 Sep 28;110(13):1819-25. Epub 2004 Sep 13.
8.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
9.	Aldosterone synthesis in the brain contributes to Dahl salt-sensitive rat hypertension.	Gomez-Sanchez EP, etal., Exp Physiol. 2010 Jan;95(1):120-30. Epub 2009 Oct 16.
10.	Central infusion of aldosterone synthase inhibitor prevents sympathetic hyperactivity and hypertension by central Na+ in Wistar rats.	Huang BS, etal., Am J Physiol Regul Integr Comp Physiol. 2008 Jul;295(1):R166-72. Epub 2008 May 21.
11.	Central infusion of aldosterone synthase inhibitor attenuates left ventricular dysfunction and remodelling in rats after myocardial infarction.	Huang BS, etal., Cardiovasc Res. 2009 Feb 15;81(3):574-81. Epub 2008 Aug 8.
12.	Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion.	Keavney B, etal., J Clin Endocrinol Metab. 2005 Feb;90(2):1072-7. Epub 2004 Nov 2.
13.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
14.	Polymorphism of the aldosterone synthase gene is not associated with progression of diabetic nephropathy, but associated with hypertension in type 2 diabetic patients.	Ko GJ, etal., Nephrology (Carlton). 2008 Dec;13(6):492-9. Epub 2008 Sep 1.
15.	Associations between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass, and function.	Kupari M, etal., Circulation. 1998 Feb 17;97(6):569-75.
16.	A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.	Lifton RP, etal., Nature. 1992 Jan 16;355(6357):262-5.
17.	Mutations in aldosterone synthase gene of Milan hypertensive rats: phenotypic consequences.	Lloyd-MacGilp SA, etal., Am J Physiol Endocrinol Metab 2002 Mar;282(3):E608-17.
18.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
19.	Lack of association among five genetic polymorphisms of the renin-angiotensin system and cardiac hypertrophy in patients with aortic stenosis.	Ortlepp JR, etal., Am Heart J. 2001 Apr;141(4):671-6.
20.	Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.	Pascoe L, etal., Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):4996-5000.
21.	Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy.	Patel R, etal., J Mol Cell Cardiol. 2000 Dec;32(12):2369-77.
22.	Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones.	Payne AH and Hales DB, Endocr Rev. 2004 Dec;25(6):947-70.
23.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
24.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
25.	Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms.	Prasad P, etal., BMC Med Genet. 2006 May 3;7:42.
26.	Genetic variation in aldosterone synthase predicts plasma glucose levels.	Ranade K, etal., Proc Natl Acad Sci U S A. 2001 Nov 6;98(23):13219-24. Epub 2001 Oct 30.
27.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
29.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30.	-344C/T Variant in the promoter of the aldosterone synthase gene (CYP11B2) is associated with metabolic syndrome in men.	Russo P, etal., Am J Hypertens. 2007 Feb;20(2):218-22.
31.	Aldosterone synthase gene polymorphism, stroke volume and age-related changes in aortic pulse wave velocity in subjects with hypertension.	Safar ME, etal., J Hypertens. 2005 Jun;23(6):1159-66.
32.	Evidence for compromised aldosterone synthase enzyme activity in preeclampsia.	Shojaati K, etal., Kidney Int. 2004 Dec;66(6):2322-8.
33.	Spironolactone exhibits direct renoprotective effects and inhibits renal renin-angiotensin-aldosterone system in diabetic rats.	Taira M, etal., Eur J Pharmacol. 2008 Jul 28;589(1-3):264-71. Epub 2008 Jun 10.
34.	[Effects of various diuretics on cardiac function in rats with heart failure].	Tanaka H, etal., Yakugaku Zasshi. 2009 Jul;129(7):871-9.
35.	An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy.	Tiago AD, etal., Cardiovasc Res. 2002 Jun;54(3):584-9.
36.	Torasemide, a long-acting loop diuretic, reduces the progression of myocarditis to dilated cardiomyopathy.	Veeraveedu PT, etal., Eur J Pharmacol. 2008 Feb 26;581(1-2):121-31. Epub 2007 Nov 28.

Additional References at PubMed

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PMID:11696658	PMID:11696688	PMID:11711521	PMID:11711524	PMID:11725161	PMID:11728005	PMID:11728946	PMID:11841224	PMID:11856349	PMID:11903322	PMID:11910301	PMID:11923700
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PMID:23209837	PMID:23257211	PMID:23257735	PMID:23275203	PMID:23322723	PMID:23443813	PMID:23479071	PMID:23490082	PMID:23535359	PMID:23681285	PMID:23701507	PMID:23748625
PMID:23936266	PMID:23950878	PMID:24015270	PMID:24388430	PMID:24423307	PMID:24472523	PMID:24549414	PMID:24599807	PMID:24837548	PMID:24842915	PMID:25102047	PMID:25208931
PMID:25351194	PMID:25354523	PMID:25504670	PMID:25572238	PMID:25768006	PMID:25890613	PMID:25917967	PMID:25966076	PMID:26066897	PMID:26200036	PMID:26222001	PMID:26280318
PMID:26305278	PMID:26556555	PMID:26686590	PMID:26765578	PMID:26941570	PMID:27009287	PMID:27149293	PMID:27754862	PMID:27781210	PMID:27793677	PMID:27935319	PMID:28017963
PMID:28078278	PMID:28190867	PMID:28319085	PMID:28355486	PMID:28540892	PMID:28566337	PMID:28625318	PMID:28692307	PMID:28953657	PMID:29202495	PMID:29229168	PMID:29523271
PMID:29627490	PMID:29665181	PMID:29739797	PMID:30529851	PMID:30561227	PMID:30695674	PMID:30737933	PMID:30974191	PMID:31296661	PMID:31302112	PMID:31935507	PMID:32289837
PMID:32539318	PMID:32540969	PMID:32790508	PMID:32857720	PMID:32938270	PMID:33098647	PMID:33189850	PMID:33235094	PMID:33271253	PMID:33438832	PMID:33925539	PMID:34015331
PMID:34227426	PMID:34415991	PMID:34743356	PMID:34897049	PMID:35012455	PMID:35130889	PMID:36036158	PMID:36070092	PMID:37372364

Genomics

Comparative Map Data

CYP11B2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	142,910,559 - 142,917,843 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	142,910,559 - 142,917,843 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	143,991,975 - 143,999,259 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	143,988,977 - 143,996,261 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	143,988,976 - 143,996,261	NCBI
Celera	8	140,301,421 - 140,308,694 (-)	NCBI		Celera
Cytogenetic Map	8	q24.3	NCBI
HuRef	8	139,244,244 - 139,251,515 (-)	NCBI		HuRef
CHM1_1	8	144,032,236 - 144,039,525 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	144,053,900 - 144,061,172 (-)	NCBI		T2T-CHM13v2.0

Cyp11b2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	74,722,467 - 74,728,080 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	74,722,859 - 74,728,167 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	74,850,618 - 74,856,231 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	74,851,010 - 74,856,318 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	74,681,440 - 74,686,748 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	74,678,294 - 74,683,480 (-)	NCBI		MGSCv36	mm8
Celera	15	76,357,529 - 76,362,843 (-)	NCBI		Celera
Cytogenetic Map	15	D3	NCBI
cM Map	15	34.29	NCBI

Cyp11b3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	7	106,808,559 - 106,814,048 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	106,808,559 - 106,814,048 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	108,534,544 - 108,540,024 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	110,758,218 - 110,763,690 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	110,704,151 - 110,709,631 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	116,155,928 - 116,161,781 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	116,156,219 - 116,255,167 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	116,059,008 - 116,064,497 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	113,013,335 - 113,018,824 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	113,047,564 - 113,053,054 (-)	NCBI
Celera	7	103,180,975 - 103,186,464 (-)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

CYP11B2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	8	135,873,004 - 135,880,399 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	139,622,632 - 139,630,014 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	142,666,534 - 142,672,575 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	142,666,534 - 142,672,575 (-)	Ensembl	panpan1.1		panPan2

CYP11B1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	36,866,476 - 36,880,625 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	36,823,864 - 36,833,784 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	37,342,302 - 37,352,691 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	13	37,015,530 - 37,025,564 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	37,134,290 - 37,144,097 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	37,610,637 - 37,619,980 (+)	NCBI		UU_Cfam_GSD_1.0

CYP11B2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	4	1,365,725 - 1,373,138 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

LOC101700701
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624735	13,701,382 - 13,708,750 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CYP11B2
430 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000498.3(CYP11B2):c.104_109delinsG (p.Val35fs)	indel	Corticosterone 18-monooxygenase deficiency [RCV000018374]	Chr8:142917732..142917737 [GRCh38] Chr8:143999148..143999153 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000018375]	Chr8:142912546 [GRCh38] Chr8:143993962 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000018376]\|Corticosterone methyl oxidase type II deficiency [RCV001271156]\|Corticosterone methyloxidase type 2 deficiency [RCV002250462]\|not provided [RCV001059131]	Chr8:142914741 [GRCh38] Chr8:143996157 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002496398]\|Corticosterone methyl oxidase type II deficiency [RCV001826477]\|Corticosterone methyloxidase type 2 deficiency [RCV000018377]\|not provided [RCV000808165]	Chr8:142915087 [GRCh38] Chr8:143996503 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_000498.3(CYP11B2):c.423_428dup (p.Leu144_Asn145insArgLeu)	duplication	Corticosterone 18-monooxygenase deficiency [RCV000018378]	Chr8:142915212..142915213 [GRCh38] Chr8:143996628..143996629 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.-344T=	single nucleotide variant	Aldosterone to renin ratio, increased [RCV000018379]	Chr8:142918184 [GRCh38] Chr8:143999600 [GRCh37] Chr8:8q24.3	association
CYP11B2, IVS2 CONVERSION	variation	Aldosterone to renin ratio, increased [RCV000018380]	Chr8:8q21	pathogenic
NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala)	single nucleotide variant	Corticosterone methyloxidase type 2 deficiency [RCV000018381]	Chr8:142912000 [GRCh38] Chr8:143993416 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter)	single nucleotide variant	Corticosterone methyloxidase type 2 deficiency [RCV000018382]	Chr8:142914404 [GRCh38] Chr8:143995820 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.195C>T (p.His65=)	single nucleotide variant	not provided [RCV001494654]	Chr8:142917646 [GRCh38] Chr8:143999062 [GRCh37] Chr8:8q24.3	likely benign
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	copy number gain	See cases [RCV000050830]	Chr8:128220912..145049449 [GRCh38] Chr8:129233158..146274835 [GRCh37] Chr8:129302340..146245639 [NCBI36] Chr8:8q24.21-24.3	pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	copy number gain	See cases [RCV000050638]	Chr8:113580402..145054634 [GRCh38] Chr8:114592631..146280020 [GRCh37] Chr8:114661807..146250824 [NCBI36] Chr8:8q23.3-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|See cases [RCV000053677]	Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	copy number gain	See cases [RCV000053678]	Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]\|See cases [RCV000053701]	Chr8:139447227..145054775 [GRCh38] Chr8:140459470..146280161 [GRCh37] Chr8:140528652..146250965 [NCBI36] Chr8:8q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	copy number gain	See cases [RCV002292707]	Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	copy number gain	See cases [RCV000134353]	Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	copy number loss	See cases [RCV000135981]	Chr8:142201468..144002730 [GRCh38] Chr8:143282829..145076898 [GRCh37] Chr8:143280736..145148886 [NCBI36] Chr8:8q24.3	pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	copy number gain	See cases [RCV000137644]	Chr8:130639182..145068712 [GRCh38] Chr8:131651428..146294098 [GRCh37] Chr8:131720610..146264902 [NCBI36] Chr8:8q24.22-24.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	copy number gain	See cases [RCV000137466]	Chr8:139236824..145068712 [GRCh38] Chr8:140249067..146294098 [GRCh37] Chr8:140318249..146264902 [NCBI36] Chr8:8q24.3	likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	copy number gain	See cases [RCV000137340]	Chr8:139004218..145049449 [GRCh38] Chr8:140016461..146274835 [GRCh37] Chr8:140085643..146245639 [NCBI36] Chr8:8q24.3	likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	copy number gain	See cases [RCV000137346]	Chr8:124498498..145068712 [GRCh38] Chr8:125510739..146294098 [GRCh37] Chr8:125579920..146264902 [NCBI36] Chr8:8q24.13-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	copy number gain	See cases [RCV000138551]	Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	copy number gain	See cases [RCV000139036]	Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	copy number gain	See cases [RCV000140447]	Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	copy number loss	See cases [RCV000140913]	Chr8:141738068..144140607 [GRCh38] Chr8:142764538..145195510 [GRCh37] Chr8:142823655..145267498 [NCBI36] Chr8:8q24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	copy number gain	See cases [RCV000141694]	Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	copy number gain	See cases [RCV000142810]	Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	copy number gain	See cases [RCV000142597]	Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	copy number gain	See cases [RCV000143659]	Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3	pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	copy number gain	See cases [RCV000148117]	Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3	pathogenic
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000272288]\|Corticosterone methyloxidase type 2 deficiency [RCV000357616]\|Glucocorticoid-remediable aldosteronism [RCV000321492]\|not provided [RCV000949532]	Chr8:142912850 [GRCh38] Chr8:143994266 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1350C>A (p.Cys450Ter)	single nucleotide variant	not provided [RCV000224086]	Chr8:142912578 [GRCh38] Chr8:143993994 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.567G>A (p.Gln189=)	single nucleotide variant	not provided [RCV002189259]	Chr8:142915074 [GRCh38] Chr8:143996490 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000376237]\|Corticosterone 18-monooxygenase deficiency [RCV002504184]\|Corticosterone methyloxidase type 2 deficiency [RCV000266543]\|Glucocorticoid-remediable aldosteronism [RCV000323926]\|not provided [RCV000927603]	Chr8:142914351 [GRCh38] Chr8:143995767 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000320888]\|Corticosterone methyl oxidase type II deficiency [RCV001271162]\|Corticosterone methyloxidase type 2 deficiency [RCV000377865]\|Glucocorticoid-remediable aldosteronism [RCV000268061]\|not provided [RCV000969225]	Chr8:142917752 [GRCh38] Chr8:143999168 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000283934]\|Corticosterone methyloxidase type 2 deficiency [RCV000384246]\|Glucocorticoid-remediable aldosteronism [RCV000327248]	Chr8:142914374 [GRCh38] Chr8:143995790 [GRCh37] Chr8:8q24.3	benign\|uncertain significance
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000346107]\|Corticosterone methyloxidase type 2 deficiency [RCV000284163]\|Glucocorticoid-remediable aldosteronism [RCV000376315]\|not provided [RCV001409635]	Chr8:142915217 [GRCh38] Chr8:143996633 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000378861]\|Corticosterone methyloxidase type 2 deficiency [RCV000339480]\|Glucocorticoid-remediable aldosteronism [RCV000284201]\|not provided [RCV002058707]	Chr8:142913400 [GRCh38] Chr8:143994816 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.*81G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000393363]\|Corticosterone methyloxidase type 2 deficiency [RCV000356040]\|Glucocorticoid-remediable aldosteronism [RCV000301190]	Chr8:142911899 [GRCh38] Chr8:143993315 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000394654]\|Corticosterone methyloxidase type 2 deficiency [RCV000301527]\|Glucocorticoid-remediable aldosteronism [RCV000353934]\|not provided [RCV002058709]	Chr8:142914752 [GRCh38] Chr8:143996168 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000342621]\|Corticosterone methyloxidase type 2 deficiency [RCV000372892]\|Glucocorticoid-remediable aldosteronism [RCV000285419]	Chr8:142915165 [GRCh38] Chr8:143996581 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000396944]\|Corticosterone methyloxidase type 2 deficiency [RCV000341935]\|Glucocorticoid-remediable aldosteronism [RCV000302342]\|not provided [RCV000947143]	Chr8:142913326 [GRCh38] Chr8:143994742 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000269208]\|Corticosterone 18-monooxygenase deficiency [RCV002488813]\|Corticosterone methyl oxidase type II deficiency [RCV001275480]\|Corticosterone methyloxidase type 2 deficiency [RCV000366140]\|Glucocorticoid-remediable aldosteronism [RCV000307908]\|not provided [RCV001520473]\|not specified [RCV000609130]	Chr8:142915123 [GRCh38] Chr8:143996539 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.*566C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000285898]\|Corticosterone methyloxidase type 2 deficiency [RCV000334889]\|Glucocorticoid-remediable aldosteronism [RCV000380143]	Chr8:142911414 [GRCh38] Chr8:143992830 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000306484]\|Corticosterone methyloxidase type 2 deficiency [RCV000271874]\|Glucocorticoid-remediable aldosteronism [RCV000366392]\|Inborn genetic diseases [RCV003243115]	Chr8:142913367 [GRCh38] Chr8:143994783 [GRCh37] Chr8:8q24.3	benign\|uncertain significance
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000287551]\|Corticosterone 18-monooxygenase deficiency [RCV002481242]\|Corticosterone methyloxidase type 2 deficiency [RCV000405585]\|Glucocorticoid-remediable aldosteronism [RCV000351587]\|not provided [RCV000891433]	Chr8:142914376 [GRCh38] Chr8:143995792 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000288509]\|Corticosterone methyl oxidase type II deficiency [RCV001271150]\|Corticosterone methyloxidase type 2 deficiency [RCV000327328]\|Glucocorticoid-remediable aldosteronism [RCV000382899]\|not provided [RCV000949533]	Chr8:142912863 [GRCh38] Chr8:143994279 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000336090]\|Corticosterone methyloxidase type 2 deficiency [RCV000305780]\|Glucocorticoid-remediable aldosteronism [RCV000396937]\|not provided [RCV000882731]	Chr8:142913308 [GRCh38] Chr8:143994724 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.*532G>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000346205]\|Corticosterone methyloxidase type 2 deficiency [RCV000306434]\|Glucocorticoid-remediable aldosteronism [RCV000394920]	Chr8:142911448 [GRCh38] Chr8:143992864 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.395+10G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000402832]\|Corticosterone methyloxidase type 2 deficiency [RCV000344858]\|Glucocorticoid-remediable aldosteronism [RCV000306272]\|not provided [RCV000979338]	Chr8:142917049 [GRCh38] Chr8:143998465 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.*744G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000357554]\|Corticosterone methyloxidase type 2 deficiency [RCV000302709]\|Glucocorticoid-remediable aldosteronism [RCV000272062]	Chr8:142911236 [GRCh38] Chr8:143992652 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000365143]\|Corticosterone methyloxidase type 2 deficiency [RCV000322116]\|Glucocorticoid-remediable aldosteronism [RCV000273132]\|not provided [RCV000892319]	Chr8:142914864 [GRCh38] Chr8:143996280 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.*239T>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000289248]\|Corticosterone methyloxidase type 2 deficiency [RCV000344283]\|Glucocorticoid-remediable aldosteronism [RCV000384561]	Chr8:142911741 [GRCh38] Chr8:143993157 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000370864]\|Corticosterone methyl oxidase type II deficiency [RCV001271160]\|Corticosterone methyloxidase type 2 deficiency [RCV000273968]\|Glucocorticoid-remediable aldosteronism [RCV000331401]\|not provided [RCV001520474]\|not specified [RCV000615092]	Chr8:142915137 [GRCh38] Chr8:143996553 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000345229]\|Corticosterone methyloxidase type 2 deficiency [RCV000406067]\|Glucocorticoid-remediable aldosteronism [RCV000309020]\|not provided [RCV002058708]	Chr8:142913447 [GRCh38] Chr8:143994863 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.*735G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000332815]\|Corticosterone methyloxidase type 2 deficiency [RCV000387341]\|Glucocorticoid-remediable aldosteronism [RCV000274392]\|not provided [RCV001613211]	Chr8:142911245 [GRCh38] Chr8:143992661 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.*537C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000340828]\|Corticosterone methyloxidase type 2 deficiency [RCV000394905]\|Glucocorticoid-remediable aldosteronism [RCV000291822]	Chr8:142911443 [GRCh38] Chr8:143992859 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000357855]\|Corticosterone methyloxidase type 2 deficiency [RCV000395989]\|Glucocorticoid-remediable aldosteronism [RCV000309100]\|not provided [RCV001495845]	Chr8:142915112 [GRCh38] Chr8:143996528 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1246_1248del	deletion	Corticosterone 18-monooxygenase deficiency [RCV000355582]\|Corticosterone methyloxidase type 2 deficiency [RCV000259490]\|Glucocorticoid-remediable aldosteronism [RCV000298335]	Chr8:142910732..142910734 [GRCh38] Chr8:143992148..143992150 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.*299G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000354495]\|Corticosterone methyloxidase type 2 deficiency [RCV000324310]\|Glucocorticoid-remediable aldosteronism [RCV000259713]	Chr8:142911681 [GRCh38] Chr8:143993097 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000275205]\|Corticosterone methyl oxidase type II deficiency [RCV001828359]\|Corticosterone methyloxidase type 2 deficiency [RCV000357155]\|Glucocorticoid-remediable aldosteronism [RCV000311623]\|not provided [RCV001511210]	Chr8:142914327 [GRCh38] Chr8:143995743 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000357492]\|Corticosterone methyloxidase type 2 deficiency [RCV000275370]\|Glucocorticoid-remediable aldosteronism [RCV000300100]	Chr8:142917198 [GRCh38] Chr8:143998614 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000330960]\|Corticosterone methyloxidase type 2 deficiency [RCV000370449]\|Glucocorticoid-remediable aldosteronism [RCV000275819]\|not provided [RCV002523645]	Chr8:142913385 [GRCh38] Chr8:143994801 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000379456]\|Corticosterone 18-monooxygenase deficiency [RCV002502394]\|Corticosterone methyloxidase type 2 deficiency [RCV000317922]\|Glucocorticoid-remediable aldosteronism [RCV000260232]\|not provided [RCV000899782]	Chr8:142917730 [GRCh38] Chr8:143999146 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.800-14T>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000350320]\|Corticosterone methyloxidase type 2 deficiency [RCV000394655]\|Glucocorticoid-remediable aldosteronism [RCV000293062]\|not provided [RCV002523646]	Chr8:142914432 [GRCh38] Chr8:143995848 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.*504C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000400981]\|Corticosterone methyloxidase type 2 deficiency [RCV000312174]\|Glucocorticoid-remediable aldosteronism [RCV000370370]	Chr8:142911476 [GRCh38] Chr8:143992892 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.595+14G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000336638]\|Corticosterone methyloxidase type 2 deficiency [RCV000404022]\|Glucocorticoid-remediable aldosteronism [RCV000278118]\|not provided [RCV002523647]	Chr8:142915032 [GRCh38] Chr8:143996448 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000278472]\|Corticosterone methyloxidase type 2 deficiency [RCV000342872]\|Glucocorticoid-remediable aldosteronism [RCV000372642]\|not provided [RCV000892873]	Chr8:142913390 [GRCh38] Chr8:143994806 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000388744]\|Corticosterone methyl oxidase type II deficiency [RCV001271152]\|Corticosterone methyloxidase type 2 deficiency [RCV000334245]\|Glucocorticoid-remediable aldosteronism [RCV000294441]\|not provided [RCV001511983]\|not specified [RCV000614059]	Chr8:142913286 [GRCh38] Chr8:143994702 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000294724]\|Corticosterone 18-monooxygenase deficiency [RCV002504185]\|Corticosterone methyl oxidase type II deficiency [RCV001271157]\|Corticosterone methyloxidase type 2 deficiency [RCV000325823]\|Glucocorticoid-remediable aldosteronism [RCV000382714]\|not provided [RCV000963652]\|not specified [RCV001701872]	Chr8:142914898 [GRCh38] Chr8:143996314 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000315890]\|Corticosterone methyl oxidase type II deficiency [RCV001271153]\|Corticosterone methyloxidase type 2 deficiency [RCV000354330]\|Glucocorticoid-remediable aldosteronism [RCV000263084]\|not provided [RCV001511985]\|not specified [RCV000613874]	Chr8:142914345 [GRCh38] Chr8:143995761 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000385370]\|Corticosterone methyl oxidase type II deficiency [RCV001833479]\|Corticosterone methyloxidase type 2 deficiency [RCV000318058]\|Glucocorticoid-remediable aldosteronism [RCV000262745]\|not provided [RCV001511984]	Chr8:142913390 [GRCh38] Chr8:143994806 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.*204C>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000403348]\|Corticosterone methyloxidase type 2 deficiency [RCV000350208]\|Glucocorticoid-remediable aldosteronism [RCV000295178]	Chr8:142911776 [GRCh38] Chr8:143993192 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000369828]\|Corticosterone 18-monooxygenase deficiency [RCV002488812]\|Corticosterone methyloxidase type 2 deficiency [RCV000315028]\|Glucocorticoid-remediable aldosteronism [RCV000395007]\|not provided [RCV000965712]	Chr8:142914273 [GRCh38] Chr8:143995689 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000263147]\|Corticosterone methyloxidase type 2 deficiency [RCV000374419]\|Glucocorticoid-remediable aldosteronism [RCV000315985]\|not provided [RCV000897922]	Chr8:142915164 [GRCh38] Chr8:143996580 [GRCh37] Chr8:8q24.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000498.3(CYP11B2):c.*1178T>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000330291]\|Corticosterone methyloxidase type 2 deficiency [RCV000387104]\|Glucocorticoid-remediable aldosteronism [RCV000263179]	Chr8:142910802 [GRCh38] Chr8:143992218 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.*579T>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000320075]\|Corticosterone methyloxidase type 2 deficiency [RCV000279909]\|Glucocorticoid-remediable aldosteronism [RCV000374420]	Chr8:142911401 [GRCh38] Chr8:143992817 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.*746G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000342527]\|Corticosterone methyloxidase type 2 deficiency [RCV000297006]\|Glucocorticoid-remediable aldosteronism [RCV000396774]	Chr8:142911234 [GRCh38] Chr8:143992650 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000367726]\|Corticosterone methyloxidase type 2 deficiency [RCV000315409]\|Glucocorticoid-remediable aldosteronism [RCV000396255]\|Inborn genetic diseases [RCV002523648]\|not provided [RCV002058710]	Chr8:142917102 [GRCh38] Chr8:143998518 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000304516]\|Corticosterone methyloxidase type 2 deficiency [RCV000264588]\|Glucocorticoid-remediable aldosteronism [RCV000361561]	Chr8:142914830 [GRCh38] Chr8:143996246 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000349324]\|Corticosterone methyloxidase type 2 deficiency [RCV000281440]\|Glucocorticoid-remediable aldosteronism [RCV000375942]\|not provided [RCV000884546]	Chr8:142913305 [GRCh38] Chr8:143994721 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000361114]\|Corticosterone methyl oxidase type II deficiency [RCV001833478]\|Corticosterone methyloxidase type 2 deficiency [RCV000297061]\|Glucocorticoid-remediable aldosteronism [RCV000266476]\|not provided [RCV001511982]	Chr8:142912837 [GRCh38] Chr8:143994253 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.*789G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000283610]\|Corticosterone methyloxidase type 2 deficiency [RCV000396782]\|Glucocorticoid-remediable aldosteronism [RCV000340999]	Chr8:142911191 [GRCh38] Chr8:143992607 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162097]\|Corticosterone methyl oxidase type II deficiency [RCV001271149]\|Corticosterone methyloxidase type 2 deficiency [RCV000393406]\|Glucocorticoid-remediable aldosteronism [RCV001162098]\|not provided [RCV001511981]\|not specified [RCV000455482]	Chr8:142912625 [GRCh38] Chr8:143994041 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.292_294dup	duplication	Corticosterone 18-monooxygenase deficiency [RCV000378643]\|Corticosterone methyloxidase type 2 deficiency [RCV000320734]\|Glucocorticoid-remediable aldosteronism [RCV000284409]	Chr8:142911685..142911686 [GRCh38] Chr8:143993101..143993102 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.*431A>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000318389]\|Corticosterone methyloxidase type 2 deficiency [RCV000366730]\|Glucocorticoid-remediable aldosteronism [RCV000262816]	Chr8:142911549 [GRCh38] Chr8:143992965 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*1047C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000381469]\|Corticosterone methyloxidase type 2 deficiency [RCV000276270]\|Glucocorticoid-remediable aldosteronism [RCV000333731]	Chr8:142910933 [GRCh38] Chr8:143992349 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*743C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000308428]\|Corticosterone methyloxidase type 2 deficiency [RCV000363222]\|Glucocorticoid-remediable aldosteronism [RCV000277997]	Chr8:142911237 [GRCh38] Chr8:143992653 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.635T>C (p.Val212Ala)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002486038]\|Corticosterone methyl oxidase type II deficiency [RCV001278641]	Chr8:142914869 [GRCh38] Chr8:143996285 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.101C>T (p.Thr34Met)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002486039]\|Corticosterone methyl oxidase type II deficiency [RCV001278650]	Chr8:142917740 [GRCh38] Chr8:143999156 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002499469]\|Corticosterone methyl oxidase type II deficiency [RCV001278112]\|not provided [RCV001478649]	Chr8:142913371 [GRCh38] Chr8:143994787 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.595+15G>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000293540]\|Corticosterone methyloxidase type 2 deficiency [RCV000385430]\|Glucocorticoid-remediable aldosteronism [RCV000333354]	Chr8:142915031 [GRCh38] Chr8:143996447 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000335545]\|Corticosterone methyloxidase type 2 deficiency [RCV000305481]\|Glucocorticoid-remediable aldosteronism [RCV000395978]	Chr8:142915050 [GRCh38] Chr8:143996466 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*972C>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000384911]\|Corticosterone methyloxidase type 2 deficiency [RCV000346730]\|Glucocorticoid-remediable aldosteronism [RCV000289331]	Chr8:142911008 [GRCh38] Chr8:143992424 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.-14G>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV000381522]\|Corticosterone methyloxidase type 2 deficiency [RCV000291813]\|Glucocorticoid-remediable aldosteronism [RCV000345330]	Chr8:142917854 [GRCh38] Chr8:143999270 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001833552]\|not provided [RCV000911079]\|not specified [RCV000434753]	Chr8:142914706 [GRCh38] Chr8:143996122 [GRCh37] Chr8:8q24.3	benign\|likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	copy number gain	See cases [RCV000448954]	Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3	pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	copy number gain	See cases [RCV000448348]	Chr8:134825277..146280828 [GRCh37] Chr8:8q24.22-24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	copy number gain	See cases [RCV000512003]	Chr8:136378789..146295771 [GRCh37] Chr8:8q24.22-24.3	likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	copy number gain	See cases [RCV000511002]	Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020)	copy number gain	Intellectual disability [RCV000626547]	Chr8:142840194..146280020 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	copy number gain	See cases [RCV000512401]	Chr8:114853126..146295771 [GRCh37] Chr8:8q23.3-24.3	pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	copy number gain	not provided [RCV000683044]	Chr8:121694649..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	copy number gain	not provided [RCV000683020]	Chr8:143815037..146295771 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143958399-143994806)x1	copy number loss	not provided [RCV000747917]	Chr8:143958399..143994806 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.596-39T>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532768]\|Corticosterone methyloxidase type 2 deficiency [RCV001532769]	Chr8:142914947 [GRCh38] Chr8:143996363 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.39G>A (p.Ala13=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001275487]\|not provided [RCV000977629]	Chr8:142917802 [GRCh38] Chr8:143999218 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.88C>T (p.Arg30Trp)	single nucleotide variant	Inborn genetic diseases [RCV003268782]	Chr8:142917753 [GRCh38] Chr8:143999169 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1201-9C>T	single nucleotide variant	not provided [RCV000982661]	Chr8:142912736 [GRCh38] Chr8:143994152 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.342G>A (p.Glu114=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001159609]\|Corticosterone methyloxidase type 2 deficiency [RCV001159607]\|Glucocorticoid-remediable aldosteronism [RCV001159608]\|not provided [RCV000944990]	Chr8:142917112 [GRCh38] Chr8:143998528 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002489405]\|Corticosterone methyl oxidase type II deficiency [RCV001827056]\|not provided [RCV000970191]	Chr8:142914825 [GRCh38] Chr8:143996241 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.225G>A (p.Leu75=)	single nucleotide variant	not provided [RCV000975247]	Chr8:142917616 [GRCh38] Chr8:143999032 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.325T>C (p.Cys109Arg)	single nucleotide variant	not provided [RCV000892102]	Chr8:142917129 [GRCh38] Chr8:143998545 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1266G>C (p.Arg422=)	single nucleotide variant	not provided [RCV000969550]	Chr8:142912662 [GRCh38] Chr8:143994078 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001273474]\|Corticosterone 18-monooxygenase deficiency [RCV002489433]\|not provided [RCV000975944]	Chr8:142914375 [GRCh38] Chr8:143995791 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.-344T>C	single nucleotide variant	not provided [RCV000937219]	Chr8:142918184 [GRCh38] Chr8:143999600 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002505305]\|Corticosterone methyl oxidase type II deficiency [RCV001275481]\|not provided [RCV000901634]	Chr8:142915227 [GRCh38] Chr8:143996643 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.459C>T (p.Ala153=)	single nucleotide variant	not provided [RCV000901176]	Chr8:142915182 [GRCh38] Chr8:143996598 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.282G>A (p.Pro94=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001275483]\|not provided [RCV000893213]	Chr8:142917172 [GRCh38] Chr8:143998588 [GRCh37] Chr8:8q24.3	benign\|uncertain significance
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001275478]\|Corticosterone 18-monooxygenase deficiency [RCV002488006]\|not provided [RCV000928334]	Chr8:142914718 [GRCh38] Chr8:143996134 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.102G>A (p.Thr34=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001275486]\|not provided [RCV000968940]	Chr8:142917739 [GRCh38] Chr8:143999155 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1150C>T (p.Arg384Ter)	single nucleotide variant	not provided [RCV001050464]	Chr8:142912857 [GRCh38] Chr8:143994273 [GRCh37] Chr8:8q24.3	pathogenic
NC_000008.11:g.(?_142874363)_(142918184_?)del	deletion	not provided [RCV001031449]	Chr8:143955779..143999600 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer)	deletion	Corticosterone 18-monooxygenase deficiency [RCV001195423]\|not provided [RCV001051643]	Chr8:142917693..142917702 [GRCh38] Chr8:143999109..143999118 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NC_000008.11:g.(?_142911970)_(142914428_?)del	deletion	not provided [RCV001031646]	Chr8:143993386..143995844 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.251dup (p.Gly85fs)	duplication	not provided [RCV001048165]	Chr8:142917202..142917203 [GRCh38] Chr8:143998618..143998619 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1398+1G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002497350]\|Corticosterone methyl oxidase type II deficiency [RCV001832369]\|not provided [RCV001035065]	Chr8:142912529 [GRCh38] Chr8:143993945 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_000498.3(CYP11B2):c.1200+1G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002501103]\|not provided [RCV000811326]	Chr8:142912806 [GRCh38] Chr8:143994222 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.1002C>T (p.Pro334=)	single nucleotide variant	not provided [RCV000941381]	Chr8:142913404 [GRCh38] Chr8:143994820 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.240-9del	deletion	Corticosterone 18-monooxygenase deficiency [RCV001275484]\|not provided [RCV000879605]	Chr8:142917223 [GRCh38] Chr8:143998639 [GRCh37] Chr8:8q24.3	benign\|uncertain significance
NM_000498.3(CYP11B2):c.596-4G>A	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278642]\|not provided [RCV000983626]	Chr8:142914912 [GRCh38] Chr8:143996328 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1015A>G (p.Ile339Val)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001825798]\|not provided [RCV000892466]	Chr8:142913391 [GRCh38] Chr8:143994807 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.596-5C>T	single nucleotide variant	not provided [RCV000982277]	Chr8:142914913 [GRCh38] Chr8:143996329 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.369T>A (p.Arg123=)	single nucleotide variant	not provided [RCV000938368]	Chr8:142917085 [GRCh38] Chr8:143998501 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.768C>T (p.His256=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001271155]\|not provided [RCV000976227]	Chr8:142914736 [GRCh38] Chr8:143996152 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.142A>C (p.Arg48=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001836050]\|not provided [RCV000981043]	Chr8:142917699 [GRCh38] Chr8:143999115 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162390]\|Corticosterone methyl oxidase type II deficiency [RCV001275479]\|Corticosterone methyloxidase type 2 deficiency [RCV001162389]\|Glucocorticoid-remediable aldosteronism [RCV001160767]\|not provided [RCV000964503]	Chr8:142914761 [GRCh38] Chr8:143996177 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1209A>G (p.Val403=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001825847]\|not provided [RCV000917844]	Chr8:142912719 [GRCh38] Chr8:143994135 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001160463]\|Corticosterone methyloxidase type 2 deficiency [RCV001160464]\|Glucocorticoid-remediable aldosteronism [RCV001160465]\|not provided [RCV000917179]	Chr8:142912575 [GRCh38] Chr8:143993991 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002507562]\|Corticosterone methyl oxidase type II deficiency [RCV001830935]\|not provided [RCV000883273]	Chr8:142915206 [GRCh38] Chr8:143996622 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	copy number loss	not provided [RCV001006150]	Chr8:142132678..145569441 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	copy number loss	not provided [RCV001006152]	Chr8:143616831..144930611 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.954G>A (p.Thr318=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002501120]\|not provided [RCV000815493]	Chr8:142914264 [GRCh38] Chr8:143995680 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.545_546dup (p.Ser183fs)	duplication	not provided [RCV000819581]	Chr8:142915094..142915095 [GRCh38] Chr8:143996510..143996511 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.27G>A (p.Val9=)	single nucleotide variant	not provided [RCV000976417]	Chr8:142917814 [GRCh38] Chr8:143999230 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.412C>T (p.Arg138Cys)	single nucleotide variant	not provided [RCV000976544]	Chr8:142915229 [GRCh38] Chr8:143996645 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	copy number gain	not provided [RCV000846814]	Chr8:139188797..146295771 [GRCh37] Chr8:8q24.23-24.3	pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	copy number gain	not provided [RCV000849762]	Chr8:122193546..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3	copy number gain	not provided [RCV000846118]	Chr8:142988974..144218537 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.845G>A (p.Arg282His)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001164319]\|Corticosterone 18-monooxygenase deficiency [RCV002505744]\|Corticosterone methyloxidase type 2 deficiency [RCV001164318]\|Glucocorticoid-remediable aldosteronism [RCV001164317]	Chr8:142914373 [GRCh38] Chr8:143995789 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002497435]\|not provided [RCV001058716]	Chr8:142914265 [GRCh38] Chr8:143995681 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_000498.3(CYP11B2):c.1009C>T (p.Gln337Ter)	single nucleotide variant	not provided [RCV000804171]	Chr8:142913397 [GRCh38] Chr8:143994813 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001275485]\|not provided [RCV000916860]	Chr8:142917659 [GRCh38] Chr8:143999075 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001273473]\|not provided [RCV000941027]	Chr8:142913365 [GRCh38] Chr8:143994781 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001271158]\|Corticosterone 18-monooxygenase deficiency [RCV001535987]\|not provided [RCV000793582]	Chr8:142915047 [GRCh38] Chr8:143996463 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NC_000008.11:g.(?_142875702)_(142912895_?)del	deletion	not provided [RCV000802588]	Chr8:142875702..142912895 [GRCh38] Chr8:143957118..143994311 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
NM_000498.3(CYP11B2):c.1227G>T (p.Ser409=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001273470]\|not provided [RCV000936628]	Chr8:142912701 [GRCh38] Chr8:143994117 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q24.3(chr8:143956846-143994131)x1	copy number loss	not provided [RCV000846740]	Chr8:143956846..143994131 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	copy number gain	not provided [RCV000847171]	Chr8:136059859..146295771 [GRCh37] Chr8:8q24.22-24.3	pathogenic
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3	copy number gain	not provided [RCV001006153]	Chr8:143728492..144093928 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*993A>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001163539]\|Corticosterone methyloxidase type 2 deficiency [RCV001163538]\|Glucocorticoid-remediable aldosteronism [RCV001163537]	Chr8:142910987 [GRCh38] Chr8:143992403 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*591T>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001163627]\|Corticosterone methyloxidase type 2 deficiency [RCV001163626]\|Glucocorticoid-remediable aldosteronism [RCV001163628]	Chr8:142911389 [GRCh38] Chr8:143992805 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	copy number gain	not provided [RCV000845705]	Chr8:125496223..146295771 [GRCh37] Chr8:8q24.13-24.3	pathogenic
NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001159113]\|Corticosterone methyloxidase type 2 deficiency [RCV001159112]\|Glucocorticoid-remediable aldosteronism [RCV001159111]	Chr8:142912051 [GRCh38] Chr8:143993467 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1398+10C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001160462]\|Corticosterone methyloxidase type 2 deficiency [RCV001159115]\|Glucocorticoid-remediable aldosteronism [RCV001159114]	Chr8:142912520 [GRCh38] Chr8:143993936 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	copy number gain	not provided [RCV001006146]	Chr8:128877995..146295771 [GRCh37] Chr8:8q24.21-24.3	pathogenic
NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001160467]\|Corticosterone methyloxidase type 2 deficiency [RCV001160466]\|Glucocorticoid-remediable aldosteronism [RCV001160468]	Chr8:142912585 [GRCh38] Chr8:143994001 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001160766]\|Corticosterone methyloxidase type 2 deficiency [RCV001160764]\|Glucocorticoid-remediable aldosteronism [RCV001160765]	Chr8:142914708 [GRCh38] Chr8:143996124 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.157C>T (p.Leu53=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001160998]\|Corticosterone methyloxidase type 2 deficiency [RCV001160996]\|Glucocorticoid-remediable aldosteronism [RCV001160997]\|not provided [RCV002070994]	Chr8:142917684 [GRCh38] Chr8:143999100 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.*879G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001163835]\|Corticosterone methyloxidase type 2 deficiency [RCV001163837]\|Glucocorticoid-remediable aldosteronism [RCV001163836]	Chr8:142911101 [GRCh38] Chr8:143992517 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.395+1G>A	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001830005]\|not provided [RCV001247095]	Chr8:142917058 [GRCh38] Chr8:143998474 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.396-303C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532792]\|Corticosterone methyloxidase type 2 deficiency [RCV001532793]	Chr8:142915548 [GRCh38] Chr8:143996964 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.1122-20A>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532845]\|Corticosterone methyloxidase type 2 deficiency [RCV001532846]\|not provided [RCV002071910]	Chr8:142912905 [GRCh38] Chr8:143994321 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.1122-87C>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532849]\|Corticosterone methyloxidase type 2 deficiency [RCV001532850]	Chr8:142912972 [GRCh38] Chr8:143994388 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.1122-90C>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532851]\|Corticosterone methyloxidase type 2 deficiency [RCV001532852]	Chr8:142912975 [GRCh38] Chr8:143994391 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001273469]\|Corticosterone 18-monooxygenase deficiency [RCV002503060]\|not provided [RCV000969549]	Chr8:142912656 [GRCh38] Chr8:143994072 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.326G>A (p.Cys109Tyr)	single nucleotide variant	not provided [RCV000892101]	Chr8:142917128 [GRCh38] Chr8:143998544 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.85G>A (p.Ala29Thr)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162582]\|Corticosterone methyl oxidase type II deficiency [RCV001271163]\|Corticosterone methyloxidase type 2 deficiency [RCV001162583]\|Glucocorticoid-remediable aldosteronism [RCV001162584]\|not provided [RCV000888737]	Chr8:142917756 [GRCh38] Chr8:143999172 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162585]\|Corticosterone methyl oxidase type II deficiency [RCV001275488]\|Corticosterone methyloxidase type 2 deficiency [RCV001164639]\|Glucocorticoid-remediable aldosteronism [RCV001164638]\|not provided [RCV000916467]	Chr8:142917832 [GRCh38] Chr8:143999248 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162182]\|Corticosterone methyloxidase type 2 deficiency [RCV001162180]\|Glucocorticoid-remediable aldosteronism [RCV001162181]\|not provided [RCV000978657]	Chr8:142913320 [GRCh38] Chr8:143994736 [GRCh37] Chr8:8q24.3	benign\|likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002501427]\|Corticosterone methyl oxidase type II deficiency [RCV001271164]\|not provided [RCV000886832]	Chr8:142917763 [GRCh38] Chr8:143999179 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1240G>C (p.Ala414Pro)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001827043]\|not provided [RCV000954692]	Chr8:142912688 [GRCh38] Chr8:143994104 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1239T>C (p.Asn413=)	single nucleotide variant	not provided [RCV000954693]	Chr8:142912689 [GRCh38] Chr8:143994105 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278109]\|not provided [RCV000917843]	Chr8:142912713 [GRCh38] Chr8:143994129 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.954+9A>G	single nucleotide variant	not provided [RCV000909376]	Chr8:142914255 [GRCh38] Chr8:143995671 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.70C>T (p.Leu24=)	single nucleotide variant	not provided [RCV000919595]	Chr8:142917771 [GRCh38] Chr8:143999187 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1398+7A>C	single nucleotide variant	not provided [RCV000915441]	Chr8:142912523 [GRCh38] Chr8:143993939 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002489436]\|Corticosterone methyl oxidase type II deficiency [RCV001278120]\|not provided [RCV000977614]	Chr8:142914802 [GRCh38] Chr8:143996218 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.595+9C>T	single nucleotide variant	not provided [RCV000930075]	Chr8:142915037 [GRCh38] Chr8:143996453 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.624G>T (p.Arg208=)	single nucleotide variant	not provided [RCV000978810]	Chr8:142914880 [GRCh38] Chr8:143996296 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.*1340T>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001158811]\|Corticosterone methyloxidase type 2 deficiency [RCV001158812]\|Glucocorticoid-remediable aldosteronism [RCV001158810]	Chr8:142910640 [GRCh38] Chr8:143992056 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*1277G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001158813]\|Corticosterone methyloxidase type 2 deficiency [RCV001160155]\|Glucocorticoid-remediable aldosteronism [RCV001158814]	Chr8:142910703 [GRCh38] Chr8:143992119 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*759A>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001158919]\|Corticosterone methyloxidase type 2 deficiency [RCV001158917]\|Glucocorticoid-remediable aldosteronism [RCV001158918]	Chr8:142911221 [GRCh38] Chr8:143992637 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.30C>A (p.Cys10Ter)	single nucleotide variant	not provided [RCV001207883]	Chr8:142917811 [GRCh38] Chr8:143999227 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1201-9C>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162103]\|Corticosterone methyloxidase type 2 deficiency [RCV001162104]\|Glucocorticoid-remediable aldosteronism [RCV001162102]	Chr8:142912736 [GRCh38] Chr8:143994152 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*876C>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001163839]\|Corticosterone methyloxidase type 2 deficiency [RCV001163840]\|Glucocorticoid-remediable aldosteronism [RCV001163838]	Chr8:142911104 [GRCh38] Chr8:143992520 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.799+2T>C	single nucleotide variant	not provided [RCV001239585]	Chr8:142914703 [GRCh38] Chr8:143996119 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.1116_1117del (p.Leu373fs)	deletion	not provided [RCV001062790]	Chr8:142913289..142913290 [GRCh38] Chr8:143994705..143994706 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1122-10C>T	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001271151]\|not provided [RCV000891432]	Chr8:142912895 [GRCh38] Chr8:143994311 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001271154]\|not provided [RCV000891434]	Chr8:142914393 [GRCh38] Chr8:143995809 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.801T>C (p.Gly267=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001275476]\|not provided [RCV000891435]	Chr8:142914417 [GRCh38] Chr8:143995833 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.800-7T>C	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001275477]\|not provided [RCV000891436]	Chr8:142914425 [GRCh38] Chr8:143995841 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1	copy number loss	not provided [RCV001006151]	Chr8:143570920..144459613 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*298C>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001160351]\|Corticosterone methyloxidase type 2 deficiency [RCV001160350]\|Glucocorticoid-remediable aldosteronism [RCV001162010]	Chr8:142911682 [GRCh38] Chr8:143993098 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*205G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162011]\|Corticosterone methyloxidase type 2 deficiency [RCV001162013]\|Glucocorticoid-remediable aldosteronism [RCV001162012]	Chr8:142911775 [GRCh38] Chr8:143993191 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.*613C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001163625]\|Corticosterone methyloxidase type 2 deficiency [RCV001163623]\|Glucocorticoid-remediable aldosteronism [RCV001163624]	Chr8:142911367 [GRCh38] Chr8:143992783 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001159109]\|Corticosterone methyloxidase type 2 deficiency [RCV001159110]\|Glucocorticoid-remediable aldosteronism [RCV001159108]	Chr8:142912038 [GRCh38] Chr8:143993454 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001159212]\|Corticosterone methyloxidase type 2 deficiency [RCV001159211]\|Glucocorticoid-remediable aldosteronism [RCV001159213]	Chr8:142912871 [GRCh38] Chr8:143994287 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001159612]\|Corticosterone methyloxidase type 2 deficiency [RCV001159611]\|Glucocorticoid-remediable aldosteronism [RCV001159610]	Chr8:142917174 [GRCh38] Chr8:143998590 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001159306]\|Corticosterone methyloxidase type 2 deficiency [RCV001159308]\|Glucocorticoid-remediable aldosteronism [RCV001159307]\|not provided [RCV002070966]	Chr8:142913427 [GRCh38] Chr8:143994843 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.955-77A>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532764]\|Corticosterone methyloxidase type 2 deficiency [RCV001532765]	Chr8:142913528 [GRCh38] Chr8:143994944 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.396-191T>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532788]\|Corticosterone methyloxidase type 2 deficiency [RCV001532789]	Chr8:142915436 [GRCh38] Chr8:143996852 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.395+49G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532794]\|Corticosterone methyloxidase type 2 deficiency [RCV001532795]	Chr8:142917010 [GRCh38] Chr8:143998426 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.240-32C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532796]\|Corticosterone methyloxidase type 2 deficiency [RCV001532797]	Chr8:142917246 [GRCh38] Chr8:143998662 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.1122-48A>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532847]\|Corticosterone methyloxidase type 2 deficiency [RCV001532848]	Chr8:142912933 [GRCh38] Chr8:143994349 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.1122-95T>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532853]\|Corticosterone methyloxidase type 2 deficiency [RCV001532854]	Chr8:142912980 [GRCh38] Chr8:143994396 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001271159]\|not provided [RCV001043588]	Chr8:142915100 [GRCh38] Chr8:143996516 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.924T>C (p.Ser308=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001160671]\|Corticosterone methyloxidase type 2 deficiency [RCV001160672]\|Glucocorticoid-remediable aldosteronism [RCV001162286]\|not provided [RCV001459657]	Chr8:142914294 [GRCh38] Chr8:143995710 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1398+2T>G	single nucleotide variant	not provided [RCV001049059]	Chr8:142912528 [GRCh38] Chr8:143993944 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162489]\|Corticosterone methyloxidase type 2 deficiency [RCV001162491]\|Glucocorticoid-remediable aldosteronism [RCV001162490]	Chr8:142915192 [GRCh38] Chr8:143996608 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162493]\|Corticosterone methyloxidase type 2 deficiency [RCV001162492]\|Glucocorticoid-remediable aldosteronism [RCV001164534]\|not provided [RCV003117792]	Chr8:142915214 [GRCh38] Chr8:143996630 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1014_1015insTA (p.Ile339Ter)	insertion	not provided [RCV001070730]	Chr8:142913391..142913392 [GRCh38] Chr8:143994807..143994808 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.449C>A (p.Ser150Ter)	single nucleotide variant	not provided [RCV001066442]	Chr8:142915192 [GRCh38] Chr8:143996608 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.240-1G>A	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001271161]\|not provided [RCV001035921]	Chr8:142917215 [GRCh38] Chr8:143998631 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.*25A>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001164021]\|Corticosterone methyloxidase type 2 deficiency [RCV001164020]\|Glucocorticoid-remediable aldosteronism [RCV001164019]	Chr8:142911955 [GRCh38] Chr8:143993371 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001162100]\|Corticosterone methyloxidase type 2 deficiency [RCV001162099]\|Glucocorticoid-remediable aldosteronism [RCV001162101]	Chr8:142912712 [GRCh38] Chr8:143994128 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	copy number gain	not provided [RCV001006140]	Chr8:121042467..146295771 [GRCh37] Chr8:8q24.12-24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	copy number gain	See cases [RCV002285066]	Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002486033]\|Corticosterone methyl oxidase type II deficiency [RCV001278115]	Chr8:142913445 [GRCh38] Chr8:143994861 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.954+7C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002493472]\|Corticosterone methyl oxidase type II deficiency [RCV001278117]	Chr8:142914257 [GRCh38] Chr8:143995673 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.800-3C>T	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278118]\|not provided [RCV002542888]	Chr8:142914421 [GRCh38] Chr8:143995837 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.590T>C (p.Ile197Thr)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278643]	Chr8:142915051 [GRCh38] Chr8:143996467 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.493G>T (p.Ala165Ser)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278645]	Chr8:142915148 [GRCh38] Chr8:143996564 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:143958418-143996344)	copy number loss	Corticosterone 18-monooxygenase deficiency [RCV001536131]	Chr8:143958418..143996344 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.660C>T (p.Ser220=)	single nucleotide variant	not provided [RCV001422133]	Chr8:142914844 [GRCh38] Chr8:143996260 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1044A>G (p.Ala348=)	single nucleotide variant	not provided [RCV001433041]	Chr8:142913362 [GRCh38] Chr8:143994778 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.450G>T (p.Ser150=)	single nucleotide variant	not provided [RCV001396969]	Chr8:142915191 [GRCh38] Chr8:143996607 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1167C>T (p.Asp389=)	single nucleotide variant	not provided [RCV001412923]	Chr8:142912840 [GRCh38] Chr8:143994256 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002480893]\|Corticosterone methyl oxidase type II deficiency [RCV001278106]\|Inborn genetic diseases [RCV003263915]	Chr8:142912663 [GRCh38] Chr8:143994079 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1096C>T (p.Arg366Trp)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002480894]\|Corticosterone methyl oxidase type II deficiency [RCV001278111]	Chr8:142913310 [GRCh38] Chr8:143994726 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1022G>A (p.Arg341His)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278114]	Chr8:142913384 [GRCh38] Chr8:143994800 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278644]\|not provided [RCV001447119]	Chr8:142915104 [GRCh38] Chr8:143996520 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278651]\|not provided [RCV002069432]	Chr8:142917757 [GRCh38] Chr8:143999173 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.396-5T>C	single nucleotide variant	not provided [RCV001433463]	Chr8:142915250 [GRCh38] Chr8:143996666 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.955-10G>T	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278116]\|not provided [RCV001423029]	Chr8:142913461 [GRCh38] Chr8:143994877 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.677C>T (p.Ala226Val)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278121]	Chr8:142914827 [GRCh38] Chr8:143996243 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.384C>T (p.Gly128=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278647]	Chr8:142917070 [GRCh38] Chr8:143998486 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.260G>A (p.Arg87His)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278648]	Chr8:142917194 [GRCh38] Chr8:143998610 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002493483]\|Corticosterone methyl oxidase type II deficiency [RCV001278652]	Chr8:142917782 [GRCh38] Chr8:143999198 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1253C>T (p.Pro418Leu)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278107]	Chr8:142912675 [GRCh38] Chr8:143994091 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002486032]\|Corticosterone methyl oxidase type II deficiency [RCV001278113]	Chr8:142913376 [GRCh38] Chr8:143994792 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278119]\|not provided [RCV002069420]	Chr8:142914767 [GRCh38] Chr8:143996183 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.395+6C>T	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278646]	Chr8:142917053 [GRCh38] Chr8:143998469 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.38C>T (p.Ala13Val)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278653]	Chr8:142917803 [GRCh38] Chr8:143999219 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278105]\|not provided [RCV002069419]	Chr8:142912587 [GRCh38] Chr8:143994003 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1122-4C>T	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278110]\|not provided [RCV001505983]	Chr8:142912889 [GRCh38] Chr8:143994305 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278649]\|not provided [RCV001438766]	Chr8:142917682 [GRCh38] Chr8:143999098 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278108]\|not provided [RCV001428725]	Chr8:142912701 [GRCh38] Chr8:143994117 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.30C>T (p.Cys10=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001278654]\|not provided [RCV002069433]	Chr8:142917811 [GRCh38] Chr8:143999227 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.994C>T (p.Arg332Trp)	single nucleotide variant	not provided [RCV001412753]	Chr8:142913412 [GRCh38] Chr8:143994828 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.390C>A (p.Phe130Leu)	single nucleotide variant	not provided [RCV001367247]	Chr8:142917064 [GRCh38] Chr8:143998480 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.978G>A (p.Thr326=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002499906]\|not provided [RCV001421402]	Chr8:142913428 [GRCh38] Chr8:143994844 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.558G>C (p.Leu186=)	single nucleotide variant	not provided [RCV001421449]	Chr8:142915083 [GRCh38] Chr8:143996499 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.495C>T (p.Ala165=)	single nucleotide variant	not provided [RCV001395228]	Chr8:142915146 [GRCh38] Chr8:143996562 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1201-4G>A	single nucleotide variant	not provided [RCV001413165]	Chr8:142912731 [GRCh38] Chr8:143994147 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1302C>T (p.Ser434=)	single nucleotide variant	not provided [RCV001395503]	Chr8:142912626 [GRCh38] Chr8:143994042 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1329T>C (p.Phe443=)	single nucleotide variant	not provided [RCV001395229]	Chr8:142912599 [GRCh38] Chr8:143994015 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1044A>C (p.Ala348=)	single nucleotide variant	not provided [RCV001490254]	Chr8:142913362 [GRCh38] Chr8:143994778 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.450G>A (p.Ser150=)	single nucleotide variant	not provided [RCV001490385]	Chr8:142915191 [GRCh38] Chr8:143996607 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.324C>T (p.Pro108=)	single nucleotide variant	not provided [RCV001470346]	Chr8:142917130 [GRCh38] Chr8:143998546 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.169A>C (p.Arg57=)	single nucleotide variant	not provided [RCV001514750]	Chr8:142917672 [GRCh38] Chr8:143999088 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.753G>A (p.Lys251=)	single nucleotide variant	not provided [RCV001452522]	Chr8:142914751 [GRCh38] Chr8:143996167 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.996G>C (p.Arg332=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002501597]\|not provided [RCV001455642]	Chr8:142913410 [GRCh38] Chr8:143994826 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1428A>C (p.Leu476=)	single nucleotide variant	not provided [RCV001397851]	Chr8:142912064 [GRCh38] Chr8:143993480 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.942G>C (p.Gly314=)	single nucleotide variant	not provided [RCV001483569]	Chr8:142914276 [GRCh38] Chr8:143995692 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.912C>A (p.Ile304=)	single nucleotide variant	not provided [RCV001483598]	Chr8:142914306 [GRCh38] Chr8:143995722 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.531G>A (p.Leu177=)	single nucleotide variant	not provided [RCV001493482]	Chr8:142915110 [GRCh38] Chr8:143996526 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.800-1G>T	single nucleotide variant	not provided [RCV001377239]	Chr8:142914419 [GRCh38] Chr8:143995835 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.762G>A (p.Lys254=)	single nucleotide variant	not provided [RCV001477492]	Chr8:142914742 [GRCh38] Chr8:143996158 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1121+9T>C	single nucleotide variant	not provided [RCV001477544]	Chr8:142913276 [GRCh38] Chr8:143994692 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.981C>T (p.Leu327=)	single nucleotide variant	not provided [RCV001435229]	Chr8:142913425 [GRCh38] Chr8:143994841 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.651T>C (p.Ser217=)	single nucleotide variant	not provided [RCV001441027]	Chr8:142914853 [GRCh38] Chr8:143996269 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1074A>G (p.Ala358=)	single nucleotide variant	not provided [RCV001446048]	Chr8:142913332 [GRCh38] Chr8:143994748 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.507C>A (p.Ser169=)	single nucleotide variant	not provided [RCV001412002]	Chr8:142915134 [GRCh38] Chr8:143996550 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.309G>A (p.Val103=)	single nucleotide variant	not provided [RCV001400770]	Chr8:142917145 [GRCh38] Chr8:143998561 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.800-4A>G	single nucleotide variant	not provided [RCV001406978]	Chr8:142914422 [GRCh38] Chr8:143995838 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.395+10G>C	single nucleotide variant	not provided [RCV001404862]	Chr8:142917049 [GRCh38] Chr8:143998465 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.654T>G (p.Ser218=)	single nucleotide variant	not provided [RCV001415557]	Chr8:142914850 [GRCh38] Chr8:143996266 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.924T>G (p.Ser308=)	single nucleotide variant	not provided [RCV001415599]	Chr8:142914294 [GRCh38] Chr8:143995710 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.396-8C>T	single nucleotide variant	not provided [RCV001409760]	Chr8:142915253 [GRCh38] Chr8:143996669 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.240-6C>T	single nucleotide variant	not provided [RCV001399988]	Chr8:142917220 [GRCh38] Chr8:143998636 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1005C>T (p.Asp335=)	single nucleotide variant	not provided [RCV001430632]	Chr8:142913401 [GRCh38] Chr8:143994817 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1074A>C (p.Ala358=)	single nucleotide variant	not provided [RCV001441898]	Chr8:142913332 [GRCh38] Chr8:143994748 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1122-126T>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532762]\|Corticosterone methyloxidase type 2 deficiency [RCV001532763]	Chr8:142913011 [GRCh38] Chr8:143994427 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.799+140C>T	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532766]\|Corticosterone methyloxidase type 2 deficiency [RCV001532767]	Chr8:142914565 [GRCh38] Chr8:143995981 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.396-262G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV001532790]\|Corticosterone methyloxidase type 2 deficiency [RCV001532791]	Chr8:142915507 [GRCh38] Chr8:143996923 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.966C>G (p.Pro322=)	single nucleotide variant	not provided [RCV001410119]	Chr8:142913440 [GRCh38] Chr8:143994856 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.395+1_395+2del	deletion	Corticosterone methyl oxidase type II deficiency [RCV001826123]\|not provided [RCV001376872]	Chr8:142917057..142917058 [GRCh38] Chr8:143998473..143998474 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.395+10G>T	single nucleotide variant	not provided [RCV001447234]	Chr8:142917049 [GRCh38] Chr8:143998465 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.421C>T (p.Arg141Ter)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001831395]\|not provided [RCV001386696]	Chr8:142915220 [GRCh38] Chr8:143996636 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.800-8C>T	single nucleotide variant	not provided [RCV001406066]	Chr8:142914426 [GRCh38] Chr8:143995842 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1350C>T (p.Cys450=)	single nucleotide variant	not provided [RCV001408456]	Chr8:142912578 [GRCh38] Chr8:143993994 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1201-6C>T	single nucleotide variant	not provided [RCV001434604]	Chr8:142912733 [GRCh38] Chr8:143994149 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1332C>T (p.Gly444=)	single nucleotide variant	not provided [RCV001445548]	Chr8:142912596 [GRCh38] Chr8:143994012 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.955-9C>T	single nucleotide variant	not provided [RCV001411465]	Chr8:142913460 [GRCh38] Chr8:143994876 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.72G>A (p.Leu24=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002499916]\|not provided [RCV001424381]	Chr8:142917769 [GRCh38] Chr8:143999185 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.625C>T (p.Leu209=)	single nucleotide variant	not provided [RCV001408945]	Chr8:142914879 [GRCh38] Chr8:143996295 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.799+10G>C	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002495634]\|not provided [RCV001448504]	Chr8:142914695 [GRCh38] Chr8:143996111 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.395+1G>T	single nucleotide variant	not provided [RCV001377473]	Chr8:142917058 [GRCh38] Chr8:143998474 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.1201-8G>A	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002504706]\|not provided [RCV001428533]	Chr8:142912735 [GRCh38] Chr8:143994151 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1221C>T (p.Leu407=)	single nucleotide variant	not provided [RCV001448584]	Chr8:142912707 [GRCh38] Chr8:143994123 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.261C>G (p.Arg87=)	single nucleotide variant	not provided [RCV001472248]	Chr8:142917193 [GRCh38] Chr8:143998609 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.816G>A (p.Gln272=)	single nucleotide variant	not provided [RCV001457031]	Chr8:142914402 [GRCh38] Chr8:143995818 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.957A>G (p.Thr319=)	single nucleotide variant	not provided [RCV001458389]	Chr8:142913449 [GRCh38] Chr8:143994865 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1242C>T (p.Ala414=)	single nucleotide variant	not provided [RCV001473490]	Chr8:142912686 [GRCh38] Chr8:143994102 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1096C>A (p.Arg366=)	single nucleotide variant	not provided [RCV001454901]	Chr8:142913310 [GRCh38] Chr8:143994726 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.135A>G (p.Pro45=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001832676]\|not provided [RCV001510248]	Chr8:142917706 [GRCh38] Chr8:143999122 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1095G>A (p.Leu365=)	single nucleotide variant	not provided [RCV001486690]	Chr8:142913311 [GRCh38] Chr8:143994727 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1134G>C (p.Val378=)	single nucleotide variant	not provided [RCV001459270]	Chr8:142912873 [GRCh38] Chr8:143994289 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.228G>T (p.Gly76=)	single nucleotide variant	not provided [RCV001487824]	Chr8:142917613 [GRCh38] Chr8:143999029 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.999C>T (p.Asn333=)	single nucleotide variant	not provided [RCV001460546]	Chr8:142913407 [GRCh38] Chr8:143994823 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.501C>T (p.Asp167=)	single nucleotide variant	not provided [RCV001488750]	Chr8:142915140 [GRCh38] Chr8:143996556 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.207C>T (p.His69=)	single nucleotide variant	not provided [RCV001456748]	Chr8:142917634 [GRCh38] Chr8:143999050 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.813C>T (p.Ile271=)	single nucleotide variant	not provided [RCV001471807]	Chr8:142914405 [GRCh38] Chr8:143995821 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.288T>C (p.Asp96=)	single nucleotide variant	Corticosterone methyl oxidase type II deficiency [RCV001832704]\|not provided [RCV001518978]	Chr8:142917166 [GRCh38] Chr8:143998582 [GRCh37] Chr8:8q24.3	benign\|likely benign
NM_000498.3(CYP11B2):c.1276C>T (p.Gln426Ter)	single nucleotide variant	not provided [RCV001386808]	Chr8:142912652 [GRCh38] Chr8:143994068 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1485C>T (p.Pro495=)	single nucleotide variant	not provided [RCV001464138]	Chr8:142912007 [GRCh38] Chr8:143993423 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1503G>A (p.Ala501=)	single nucleotide variant	not provided [RCV001425253]	Chr8:142911989 [GRCh38] Chr8:143993405 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.93C>T (p.Ala31=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002504704]\|not provided [RCV001427140]	Chr8:142917748 [GRCh38] Chr8:143999164 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1239_1240delinsCC (p.Ala414Pro)	indel	Corticosterone 18-monooxygenase deficiency [RCV002506573]\|not provided [RCV001495875]	Chr8:142912688..142912689 [GRCh38] Chr8:143994104..143994105 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.144G>A (p.Arg48=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002495733]\|not provided [RCV001487697]	Chr8:142917697 [GRCh38] Chr8:143999113 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1093C>T (p.Leu365=)	single nucleotide variant	not provided [RCV001403510]	Chr8:142913313 [GRCh38] Chr8:143994729 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.396-6C>T	single nucleotide variant	not provided [RCV001464302]	Chr8:142915251 [GRCh38] Chr8:143996667 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1032C>T (p.Ser344=)	single nucleotide variant	not provided [RCV001468714]	Chr8:142913374 [GRCh38] Chr8:143994790 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.180T>C (p.Gly60=)	single nucleotide variant	not provided [RCV001496394]	Chr8:142917661 [GRCh38] Chr8:143999077 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1038C>T (p.Ala346=)	single nucleotide variant	not provided [RCV001464570]	Chr8:142913368 [GRCh38] Chr8:143994784 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.596-10C>G	single nucleotide variant	not provided [RCV001392983]	Chr8:142914918 [GRCh38] Chr8:143996334 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.942G>A (p.Gly314=)	single nucleotide variant	not provided [RCV001461848]	Chr8:142914276 [GRCh38] Chr8:143995692 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.972G>A (p.Leu324=)	single nucleotide variant	not provided [RCV001521813]	Chr8:142913434 [GRCh38] Chr8:143994850 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.459C>G (p.Ala153=)	single nucleotide variant	not provided [RCV001483757]	Chr8:142915182 [GRCh38] Chr8:143996598 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.384C>A (p.Gly128=)	single nucleotide variant	not provided [RCV001438707]	Chr8:142917070 [GRCh38] Chr8:143998486 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1426C>T (p.Leu476=)	single nucleotide variant	not provided [RCV001499509]	Chr8:142912066 [GRCh38] Chr8:143993482 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.342_343dup (p.Pro115fs)	duplication	not provided [RCV001384379]	Chr8:142917110..142917111 [GRCh38] Chr8:143998526..143998527 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.104_107del (p.Val35fs)	deletion	not provided [RCV001384261]	Chr8:142917734..142917737 [GRCh38] Chr8:143999150..143999153 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.237C>T (p.Phe79=)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002501659]\|not provided [RCV001480982]	Chr8:142917604 [GRCh38] Chr8:143999020 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.675T>C (p.His225=)	single nucleotide variant	not provided [RCV001502648]	Chr8:142914829 [GRCh38] Chr8:143996245 [GRCh37] Chr8:8q24.3	likely benign
NC_000008.10:g.(?_143998465)_(143999600_?)del	deletion	not provided [RCV001387703]	Chr8:143998465..143999600 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_000498.3(CYP11B2):c.1379TGC[6] (p.Leu464dup)	microsatellite	not provided [RCV001815973]	Chr8:142912534..142912535 [GRCh38] Chr8:143993950..143993951 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_000498.3(CYP11B2):c.892G>T (p.Glu298Ter)	single nucleotide variant	not provided [RCV001949442]	Chr8:142914326 [GRCh38] Chr8:143995742 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.541dup (p.Arg181fs)	duplication	not provided [RCV001890811]	Chr8:142915099..142915100 [GRCh38] Chr8:143996515..143996516 [GRCh37] Chr8:8q24.3	pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	copy number gain	not specified [RCV002053797]	Chr8:130863093..146295771 [GRCh37] Chr8:8q24.21-24.3	pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	copy number gain	not specified [RCV002053772]	Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
NM_000498.3(CYP11B2):c.1416G>A (p.Leu472=)	single nucleotide variant	not provided [RCV001970103]	Chr8:142912076 [GRCh38] Chr8:143993492 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.532C>T (p.Gln178Ter)	single nucleotide variant	not provided [RCV001985338]	Chr8:142915109 [GRCh38] Chr8:143996525 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.596-2A>G	single nucleotide variant	not provided [RCV002034337]	Chr8:142914910 [GRCh38] Chr8:143996326 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.531del (p.Gln178fs)	deletion	not provided [RCV001962966]	Chr8:142915110 [GRCh38] Chr8:143996526 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.240-2A>G	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002479578]\|not provided [RCV001939543]	Chr8:142917216 [GRCh38] Chr8:143998632 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1314C>T (p.Phe438=)	single nucleotide variant	not provided [RCV001974405]	Chr8:142912614 [GRCh38] Chr8:143994030 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.760A>T (p.Lys254Ter)	single nucleotide variant	not provided [RCV001993170]	Chr8:142914744 [GRCh38] Chr8:143996160 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1066C>T (p.Gln356Ter)	single nucleotide variant	not provided [RCV001935883]	Chr8:142913340 [GRCh38] Chr8:143994756 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.595+1del	deletion	not provided [RCV001881742]	Chr8:142915045 [GRCh38] Chr8:143996461 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1034_1047del (p.Leu345fs)	deletion	not provided [RCV001930641]	Chr8:142913359..142913372 [GRCh38] Chr8:143994775..143994788 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.553del (p.Thr185fs)	deletion	not provided [RCV001900720]	Chr8:142915088 [GRCh38] Chr8:143996504 [GRCh37] Chr8:8q24.3	pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup	duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]\|Holoprosencephaly sequence [RCV003107891]\|not provided [RCV001922894]	Chr8:143822561..145743168 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.517AAG[2] (p.Lys175del)	microsatellite	Corticosterone methyloxidase type 2 deficiency [RCV002250796]\|not provided [RCV002014993]	Chr8:142915116..142915118 [GRCh38] Chr8:143996532..143996534 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.217C>T (p.Gln73Ter)	single nucleotide variant	not provided [RCV001958927]	Chr8:142917624 [GRCh38] Chr8:143999040 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.304C>T (p.Gln102Ter)	single nucleotide variant	not provided [RCV001958911]	Chr8:142917150 [GRCh38] Chr8:143998566 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002506952]\|not provided [RCV001897625]	Chr8:142914822 [GRCh38] Chr8:143996238 [GRCh37] Chr8:8q24.3	pathogenic\|likely pathogenic
NM_000498.3(CYP11B2):c.69A>T (p.Ala23=)	single nucleotide variant	not provided [RCV002088710]	Chr8:142917772 [GRCh38] Chr8:143999188 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.61G>A (p.Ala21Thr)	single nucleotide variant	Inborn genetic diseases [RCV003269125]\|not provided [RCV002112172]	Chr8:142917780 [GRCh38] Chr8:143999196 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.441T>A (p.Asp147Glu)	single nucleotide variant	not provided [RCV002112584]	Chr8:142915200 [GRCh38] Chr8:143996616 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.396-4G>A	single nucleotide variant	not provided [RCV002210106]	Chr8:142915249 [GRCh38] Chr8:143996665 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.552G>A (p.Leu184=)	single nucleotide variant	not provided [RCV002075316]	Chr8:142915089 [GRCh38] Chr8:143996505 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.222G>A (p.Glu74=)	single nucleotide variant	not provided [RCV002192669]	Chr8:142917619 [GRCh38] Chr8:143999035 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1500A>G (p.Arg500=)	single nucleotide variant	not provided [RCV002092349]	Chr8:142911992 [GRCh38] Chr8:143993408 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1356G>A (p.Gly452=)	single nucleotide variant	not provided [RCV002108554]	Chr8:142912572 [GRCh38] Chr8:143993988 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1317C>T (p.His439=)	single nucleotide variant	not provided [RCV002084723]	Chr8:142912611 [GRCh38] Chr8:143994027 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1008G>T (p.Val336=)	single nucleotide variant	not provided [RCV002072427]	Chr8:142913398 [GRCh38] Chr8:143994814 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1023C>G (p.Arg341=)	single nucleotide variant	not provided [RCV002185342]	Chr8:142913383 [GRCh38] Chr8:143994799 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1002C>G (p.Pro334=)	single nucleotide variant	not provided [RCV002071207]	Chr8:142913404 [GRCh38] Chr8:143994820 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.726G>A (p.Arg242=)	single nucleotide variant	not provided [RCV002085302]	Chr8:142914778 [GRCh38] Chr8:143996194 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1326C>T (p.Pro442=)	single nucleotide variant	not provided [RCV002129962]	Chr8:142912602 [GRCh38] Chr8:143994018 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.105G>A (p.Val35=)	single nucleotide variant	not provided [RCV002209522]	Chr8:142917736 [GRCh38] Chr8:143999152 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.65G>A (p.Arg22Gln)	single nucleotide variant	not provided [RCV002212755]	Chr8:142917776 [GRCh38] Chr8:143999192 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.261C>A (p.Arg87=)	single nucleotide variant	not provided [RCV002134712]	Chr8:142917193 [GRCh38] Chr8:143998609 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.703G>A (p.Val235Ile)	single nucleotide variant	not provided [RCV002190728]	Chr8:142914801 [GRCh38] Chr8:143996217 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.546G>A (p.Gly182=)	single nucleotide variant	not provided [RCV002150914]	Chr8:142915095 [GRCh38] Chr8:143996511 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1479G>A (p.Thr493=)	single nucleotide variant	not provided [RCV002089059]	Chr8:142912013 [GRCh38] Chr8:143993429 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.672C>T (p.Leu224=)	single nucleotide variant	not provided [RCV002168466]	Chr8:142914832 [GRCh38] Chr8:143996248 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.240-8C>T	single nucleotide variant	not provided [RCV002071252]	Chr8:142917222 [GRCh38] Chr8:143998638 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.960G>C (p.Ala320=)	single nucleotide variant	not provided [RCV002191672]	Chr8:142913446 [GRCh38] Chr8:143994862 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1264C>A (p.Arg422=)	single nucleotide variant	not provided [RCV002080397]	Chr8:142912664 [GRCh38] Chr8:143994080 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1465T>C (p.Leu489=)	single nucleotide variant	not provided [RCV002094637]	Chr8:142912027 [GRCh38] Chr8:143993443 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1458C>T (p.Ser486=)	single nucleotide variant	not provided [RCV002168107]	Chr8:142912034 [GRCh38] Chr8:143993450 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1323G>A (p.Val441=)	single nucleotide variant	not provided [RCV002195195]	Chr8:142912605 [GRCh38] Chr8:143994021 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.729C>T (p.Ser243=)	single nucleotide variant	not provided [RCV002173435]	Chr8:142914775 [GRCh38] Chr8:143996191 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.561C>T (p.Asp187=)	single nucleotide variant	not provided [RCV002107525]	Chr8:142915080 [GRCh38] Chr8:143996496 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.596-10del	deletion	not provided [RCV002200100]	Chr8:142914918 [GRCh38] Chr8:143996334 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1038C>G (p.Ala346=)	single nucleotide variant	not provided [RCV002177601]	Chr8:142913368 [GRCh38] Chr8:143994784 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.239+9C>T	single nucleotide variant	not provided [RCV002154650]	Chr8:142917593 [GRCh38] Chr8:143999009 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.597C>T (p.Ala199=)	single nucleotide variant	not provided [RCV002136232]	Chr8:142914907 [GRCh38] Chr8:143996323 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1476C>A (p.Gly492=)	single nucleotide variant	not provided [RCV002198913]	Chr8:142912016 [GRCh38] Chr8:143993432 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1157_1158inv (p.Val386Ala)	inversion	not provided [RCV002158743]	Chr8:142912849..142912850 [GRCh38] Chr8:143994265..143994266 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.267G>A (p.Val89=)	single nucleotide variant	not provided [RCV002200926]	Chr8:142917187 [GRCh38] Chr8:143998603 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.596-5del	deletion	not provided [RCV002081489]	Chr8:142914913 [GRCh38] Chr8:143996329 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.744C>T (p.Ile248=)	single nucleotide variant	not provided [RCV002083550]	Chr8:142914760 [GRCh38] Chr8:143996176 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1090T>C (p.Leu364=)	single nucleotide variant	not provided [RCV002198037]	Chr8:142913316 [GRCh38] Chr8:143994732 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.390C>T (p.Phe130=)	single nucleotide variant	not provided [RCV002218857]	Chr8:142917064 [GRCh38] Chr8:143998480 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.966C>T (p.Pro322=)	single nucleotide variant	not provided [RCV002137799]	Chr8:142913440 [GRCh38] Chr8:143994856 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.960G>A (p.Ala320=)	single nucleotide variant	not provided [RCV002139792]	Chr8:142913446 [GRCh38] Chr8:143994862 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1221C>G (p.Leu407=)	single nucleotide variant	not provided [RCV002143323]	Chr8:142912707 [GRCh38] Chr8:143994123 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.75C>A (p.Gly25=)	single nucleotide variant	not provided [RCV002163936]	Chr8:142917766 [GRCh38] Chr8:143999182 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.948G>A (p.Val316=)	single nucleotide variant	not provided [RCV002162356]	Chr8:142914270 [GRCh38] Chr8:143995686 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.52C>T (p.Leu18=)	single nucleotide variant	not provided [RCV002164385]	Chr8:142917789 [GRCh38] Chr8:143999205 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1116C>T (p.Thr372=)	single nucleotide variant	not provided [RCV002164390]	Chr8:142913290 [GRCh38] Chr8:143994706 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1302_1303delinsTA (p.Gly435Ser)	indel	not provided [RCV002140371]	Chr8:142912625..142912626 [GRCh38] Chr8:143994041..143994042 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1083G>A (p.Glu361=)	single nucleotide variant	not provided [RCV002157831]	Chr8:142913323 [GRCh38] Chr8:143994739 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.955-7T>C	single nucleotide variant	not provided [RCV002098173]	Chr8:142913458 [GRCh38] Chr8:143994874 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.783C>T (p.Asp261=)	single nucleotide variant	not provided [RCV002144580]	Chr8:142914721 [GRCh38] Chr8:143996137 [GRCh37] Chr8:8q24.3	likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	copy number gain	not provided [RCV002221452]	Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3	pathogenic
NM_000498.3(CYP11B2):c.645C>T (p.Ser215=)	single nucleotide variant	not provided [RCV002136607]	Chr8:142914859 [GRCh38] Chr8:143996275 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1398+9G>A	single nucleotide variant	not provided [RCV002162474]	Chr8:142912521 [GRCh38] Chr8:143993937 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.83C>T (p.Ala28Val)	single nucleotide variant	not provided [RCV002216985]	Chr8:142917758 [GRCh38] Chr8:143999174 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1368A>C (p.Ala456=)	single nucleotide variant	not provided [RCV002202267]	Chr8:142912560 [GRCh38] Chr8:143993976 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1023C>A (p.Arg341=)	single nucleotide variant	not provided [RCV002157021]	Chr8:142913383 [GRCh38] Chr8:143994799 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.190C>T (p.Leu64=)	single nucleotide variant	not provided [RCV002181997]	Chr8:142917651 [GRCh38] Chr8:143999067 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.540C>G (p.Ala180=)	single nucleotide variant	not provided [RCV002178396]	Chr8:142915101 [GRCh38] Chr8:143996517 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1398+9G>C	single nucleotide variant	not provided [RCV002163002]	Chr8:142912521 [GRCh38] Chr8:143993937 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.756G>T (p.Val252=)	single nucleotide variant	not provided [RCV002182488]	Chr8:142914748 [GRCh38] Chr8:143996164 [GRCh37] Chr8:8q24.3	likely benign
NC_000008.10:g.(?_143993936)_(143994311_?)del	deletion	not provided [RCV003111321]	Chr8:143993936..143994311 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.573C>T (p.Ser191=)	single nucleotide variant	not provided [RCV003116939]	Chr8:142915068 [GRCh38] Chr8:143996484 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1077C>A (p.Thr359=)	single nucleotide variant	not provided [RCV003121157]	Chr8:142913329 [GRCh38] Chr8:143994745 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1012C>T (p.Gln338Ter)	single nucleotide variant	Corticosterone methyloxidase type 2 deficiency [RCV003153059]	Chr8:142913394 [GRCh38] Chr8:143994810 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)	single nucleotide variant	Corticosterone 18-monooxygenase deficiency [RCV002267703]	Chr8:142914296 [GRCh38] Chr8:143995712 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.623G>A (p.Arg208Gln)	single nucleotide variant	not provided [RCV002269468]	Chr8:142914881 [GRCh38] Chr8:143996297 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3	copy number gain	not provided [RCV002472598]	Chr8:143895666..144568446 [GRCh37] Chr8:8q24.3	uncertain significance
GRCh37/hg19 8q24.3(chr8:142836592-144175046)x1	copy number loss	not provided [RCV002473674]	Chr8:142836592..144175046 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.546G>T (p.Gly182=)	single nucleotide variant	not provided [RCV002730544]	Chr8:142915095 [GRCh38] Chr8:143996511 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1393C>T (p.His465Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002774209]	Chr8:142912535 [GRCh38] Chr8:143993951 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.656C>T (p.Ala219Val)	single nucleotide variant	Inborn genetic diseases [RCV002860975]	Chr8:142914848 [GRCh38] Chr8:143996264 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1390C>T (p.Leu464=)	single nucleotide variant	not provided [RCV002815718]	Chr8:142912538 [GRCh38] Chr8:143993954 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.507C>T (p.Ser169=)	single nucleotide variant	not provided [RCV002838938]	Chr8:142915134 [GRCh38] Chr8:143996550 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.800-10C>T	single nucleotide variant	not provided [RCV003011612]	Chr8:142914428 [GRCh38] Chr8:143995844 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1123C>A (p.Leu375Ile)	single nucleotide variant	not provided [RCV002615812]	Chr8:142912884 [GRCh38] Chr8:143994300 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.282G>C (p.Pro94=)	single nucleotide variant	not provided [RCV002617949]	Chr8:142917172 [GRCh38] Chr8:143998588 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.395+13_395+19del	deletion	not provided [RCV003076613]	Chr8:142917040..142917046 [GRCh38] Chr8:143998456..143998462 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.337C>T (p.Leu113=)	single nucleotide variant	not provided [RCV003015895]	Chr8:142917117 [GRCh38] Chr8:143998533 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1320C>T (p.His440=)	single nucleotide variant	not provided [RCV002750098]	Chr8:142912608 [GRCh38] Chr8:143994024 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1211A>G (p.Gln404Arg)	single nucleotide variant	not provided [RCV002972639]	Chr8:142912717 [GRCh38] Chr8:143994133 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1371G>A (p.Glu457=)	single nucleotide variant	not provided [RCV002881696]	Chr8:142912557 [GRCh38] Chr8:143993973 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.446_449dup (p.Pro151fs)	duplication	not provided [RCV002686019]	Chr8:142915191..142915192 [GRCh38] Chr8:143996607..143996608 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1084del (p.Leu362fs)	deletion	not provided [RCV003016480]	Chr8:142913322 [GRCh38] Chr8:143994738 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.845del (p.Arg282fs)	deletion	not provided [RCV002867168]	Chr8:142914373 [GRCh38] Chr8:143995789 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.564C>T (p.Val188=)	single nucleotide variant	not provided [RCV002866843]	Chr8:142915077 [GRCh38] Chr8:143996493 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.595+13C>A	single nucleotide variant	not provided [RCV003081723]	Chr8:142915033 [GRCh38] Chr8:143996449 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1158G>A (p.Val386=)	single nucleotide variant	not provided [RCV002800404]	Chr8:142912849 [GRCh38] Chr8:143994265 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1201-12C>T	single nucleotide variant	not provided [RCV002640511]	Chr8:142912739 [GRCh38] Chr8:143994155 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.240-1G>T	single nucleotide variant	not provided [RCV003038150]	Chr8:142917215 [GRCh38] Chr8:143998631 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.1201-19T>C	single nucleotide variant	not provided [RCV002637926]	Chr8:142912746 [GRCh38] Chr8:143994162 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.171G>A (p.Arg57=)	single nucleotide variant	not provided [RCV002976508]	Chr8:142917670 [GRCh38] Chr8:143999086 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1247T>A (p.Leu416Ter)	single nucleotide variant	not provided [RCV003054819]	Chr8:142912681 [GRCh38] Chr8:143994097 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.800-17C>T	single nucleotide variant	not provided [RCV003081214]	Chr8:142914435 [GRCh38] Chr8:143995851 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.198G>A (p.Leu66=)	single nucleotide variant	not provided [RCV003035912]	Chr8:142917643 [GRCh38] Chr8:143999059 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.987G>A (p.Glu329=)	single nucleotide variant	not provided [RCV003053702]	Chr8:142913419 [GRCh38] Chr8:143994835 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1301C>A (p.Ser434Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002925613]	Chr8:142912627 [GRCh38] Chr8:143994043 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1334T>C (p.Phe445Ser)	single nucleotide variant	not provided [RCV002927488]	Chr8:142912594 [GRCh38] Chr8:143994010 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.261C>T (p.Arg87=)	single nucleotide variant	not provided [RCV002711834]	Chr8:142917193 [GRCh38] Chr8:143998609 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1020G>A (p.Leu340=)	single nucleotide variant	not provided [RCV002853063]	Chr8:142913386 [GRCh38] Chr8:143994802 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1420G>A (p.Glu474Lys)	single nucleotide variant	Inborn genetic diseases [RCV002874265]	Chr8:142912072 [GRCh38] Chr8:143993488 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)	single nucleotide variant	not provided [RCV003058205]	Chr8:142915099 [GRCh38] Chr8:143996515 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.802G>A (p.Asp268Asn)	single nucleotide variant	Inborn genetic diseases [RCV002709636]	Chr8:142914416 [GRCh38] Chr8:143995832 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.777C>T (p.Ala259=)	single nucleotide variant	not provided [RCV002890007]	Chr8:142914727 [GRCh38] Chr8:143996143 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.946G>A (p.Val316Met)	single nucleotide variant	Inborn genetic diseases [RCV002954522]	Chr8:142914272 [GRCh38] Chr8:143995688 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.633G>C (p.Leu211=)	single nucleotide variant	not provided [RCV002890175]	Chr8:142914871 [GRCh38] Chr8:143996287 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.595+2T>C	single nucleotide variant	not provided [RCV002871875]	Chr8:142915044 [GRCh38] Chr8:143996460 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.396-10G>A	single nucleotide variant	not provided [RCV002982204]	Chr8:142915255 [GRCh38] Chr8:143996671 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.800-19T>C	single nucleotide variant	not provided [RCV002644529]	Chr8:142914437 [GRCh38] Chr8:143995853 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.1260T>G (p.Pro420=)	single nucleotide variant	not provided [RCV002872575]	Chr8:142912668 [GRCh38] Chr8:143994084 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1398+17del	deletion	not provided [RCV002644384]	Chr8:142912513 [GRCh38] Chr8:143993929 [GRCh37] Chr8:8q24.3	benign
NM_000498.3(CYP11B2):c.824A>G (p.Tyr275Cys)	single nucleotide variant	not provided [RCV002918922]	Chr8:142914394 [GRCh38] Chr8:143995810 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.273G>A (p.Val91=)	single nucleotide variant	not provided [RCV002593475]	Chr8:142917181 [GRCh38] Chr8:143998597 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.916dup (p.Ala306fs)	duplication	not provided [RCV002871664]	Chr8:142914301..142914302 [GRCh38] Chr8:143995717..143995718 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.867C>A (p.Ile289=)	single nucleotide variant	not provided [RCV003086707]	Chr8:142914351 [GRCh38] Chr8:143995767 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.821T>C (p.Ile274Thr)	single nucleotide variant	Inborn genetic diseases [RCV002965768]	Chr8:142914397 [GRCh38] Chr8:143995813 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.46C>T (p.Leu16=)	single nucleotide variant	not provided [RCV003090267]	Chr8:142917795 [GRCh38] Chr8:143999211 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.110C>T (p.Pro37Leu)	single nucleotide variant	not provided [RCV003089475]	Chr8:142917731 [GRCh38] Chr8:143999147 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.408A>G (p.Glu136=)	single nucleotide variant	not provided [RCV003027081]	Chr8:142915233 [GRCh38] Chr8:143996649 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.64C>T (p.Arg22Trp)	single nucleotide variant	Inborn genetic diseases [RCV002629635]\|not provided [RCV002654970]	Chr8:142917777 [GRCh38] Chr8:143999193 [GRCh37] Chr8:8q24.3	likely benign\|uncertain significance
NM_000498.3(CYP11B2):c.879C>A (p.Leu293=)	single nucleotide variant	not provided [RCV003028756]	Chr8:142914339 [GRCh38] Chr8:143995755 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1122-7C>T	single nucleotide variant	not provided [RCV003061953]	Chr8:142912892 [GRCh38] Chr8:143994308 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.508C>T (p.Gln170Ter)	single nucleotide variant	not provided [RCV003062185]	Chr8:142915133 [GRCh38] Chr8:143996549 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.240-9G>A	single nucleotide variant	not provided [RCV002938415]	Chr8:142917223 [GRCh38] Chr8:143998639 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1251C>T (p.Phe417=)	single nucleotide variant	not provided [RCV003048414]	Chr8:142912677 [GRCh38] Chr8:143994093 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1293C>T (p.Ile431=)	single nucleotide variant	not provided [RCV002650688]	Chr8:142912635 [GRCh38] Chr8:143994051 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1368A>G (p.Ala456=)	single nucleotide variant	not provided [RCV002720062]	Chr8:142912560 [GRCh38] Chr8:143993976 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1122-9C>T	single nucleotide variant	not provided [RCV003048243]	Chr8:142912894 [GRCh38] Chr8:143994310 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.882G>A (p.Leu294=)	single nucleotide variant	not provided [RCV002835240]	Chr8:142914336 [GRCh38] Chr8:143995752 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.493G>A (p.Ala165Thr)	single nucleotide variant	not provided [RCV002598953]	Chr8:142915148 [GRCh38] Chr8:143996564 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.895del (p.Leu299fs)	deletion	not provided [RCV003030762]	Chr8:142914323 [GRCh38] Chr8:143995739 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.788T>A (p.Ile263Asn)	single nucleotide variant	not provided [RCV003062184]	Chr8:142914716 [GRCh38] Chr8:143996132 [GRCh37] Chr8:8q24.3	pathogenic
NM_000498.3(CYP11B2):c.954+1G>A	single nucleotide variant	not provided [RCV002857440]	Chr8:142914263 [GRCh38] Chr8:143995679 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.596-1G>T	single nucleotide variant	not provided [RCV002877357]	Chr8:142914909 [GRCh38] Chr8:143996325 [GRCh37] Chr8:8q24.3	likely pathogenic
NM_000498.3(CYP11B2):c.1212G>C (p.Gln404His)	single nucleotide variant	Inborn genetic diseases [RCV002724665]	Chr8:142912716 [GRCh38] Chr8:143994132 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.799+17G>A	single nucleotide variant	not provided [RCV002633868]	Chr8:142914688 [GRCh38] Chr8:143996104 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.325_326inv (p.Cys109His)	inversion	not provided [RCV002634057]	Chr8:142917128..142917129 [GRCh38] Chr8:143998544..143998545 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1079C>A (p.Thr360Asn)	single nucleotide variant	Inborn genetic diseases [RCV003161783]\|not provided [RCV003092720]	Chr8:142913327 [GRCh38] Chr8:143994743 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.174G>A (p.Glu58=)	single nucleotide variant	not provided [RCV002603604]	Chr8:142917667 [GRCh38] Chr8:143999083 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.297G>A (p.Lys99=)	single nucleotide variant	not provided [RCV002613091]	Chr8:142917157 [GRCh38] Chr8:143998573 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1407G>A (p.Lys469=)	single nucleotide variant	not provided [RCV003051041]	Chr8:142912085 [GRCh38] Chr8:143993501 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1015_1016delinsGC (p.Ile339Ala)	indel	not provided [RCV002654660]	Chr8:142913390..142913391 [GRCh38] Chr8:143994806..143994807 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.246C>T (p.Asn82=)	single nucleotide variant	not provided [RCV003050361]	Chr8:142917208 [GRCh38] Chr8:143998624 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.855C>G (p.His285Gln)	single nucleotide variant	not provided [RCV003093250]	Chr8:142914363 [GRCh38] Chr8:143995779 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.870G>T (p.Val290=)	single nucleotide variant	not provided [RCV003071122]	Chr8:142914348 [GRCh38] Chr8:143995764 [GRCh37] Chr8:8q24.3	likely benign
NM_000498.3(CYP11B2):c.1297G>T (p.Gly433Cys)	single nucleotide variant	Inborn genetic diseases [RCV003215015]	Chr8:142912631 [GRCh38] Chr8:143994047 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1263G>T (p.Glu421Asp)	single nucleotide variant	Inborn genetic diseases [RCV003173073]	Chr8:142912665 [GRCh38] Chr8:143994081 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.868G>A (p.Val290Met)	single nucleotide variant	Inborn genetic diseases [RCV003206163]	Chr8:142914350 [GRCh38] Chr8:143995766 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.1264C>T (p.Arg422Trp)	single nucleotide variant	Inborn genetic diseases [RCV003173079]	Chr8:142912664 [GRCh38] Chr8:143994080 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.203T>G (p.Met68Arg)	single nucleotide variant	Inborn genetic diseases [RCV003193775]	Chr8:142917638 [GRCh38] Chr8:143999054 [GRCh37] Chr8:8q24.3	uncertain significance
NM_000498.3(CYP11B2):c.422G>A (p.Arg141Gln)	single nucleotide variant	not specified [RCV003324386]	Chr8:142915219 [GRCh38] Chr8:143996635 [GRCh37] Chr8:8q24.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	819
Count of miRNA genes:	565
Interacting mature miRNAs:	613
Transcripts:	ENST00000323110
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

RH121974

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,993,127 - 143,993,339	UniSTS	GRCh37
Build 36	8	143,990,129 - 143,990,341	RGD	NCBI36
Celera	8	140,302,573 - 140,302,785	RGD
Cytogenetic Map	8	q21-q22	UniSTS
HuRef	8	139,245,396 - 139,245,608	UniSTS
TNG Radiation Hybrid Map	8	70927.0	UniSTS

GDB:635986

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	144,000,055 - 144,000,164	UniSTS	GRCh37
Build 36	8	143,997,057 - 143,997,166	RGD	NCBI36
Celera	8	140,309,490 - 140,309,599	RGD
Cytogenetic Map	8	q21-q22	UniSTS
HuRef	8	139,252,311 - 139,252,421	UniSTS

PMC60851P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,998,573 - 143,998,709	UniSTS	GRCh37
GRCh37	8	143,960,546 - 143,960,682	UniSTS	GRCh37
Build 36	8	143,957,548 - 143,957,684	RGD	NCBI36
Celera	8	140,270,175 - 140,270,311	RGD
Celera	8	140,308,008 - 140,308,144	UniSTS
Cytogenetic Map	8	q21-q22	UniSTS
Cytogenetic Map	8	q21	UniSTS
HuRef	8	139,250,829 - 139,250,965	UniSTS
HuRef	8	139,212,815 - 139,212,951	UniSTS

CYP11B1_2340

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,992,787 - 143,993,473	UniSTS	GRCh37
GRCh37	8	143,955,186 - 143,955,866	UniSTS	GRCh37
Build 36	8	143,952,188 - 143,952,868	RGD	NCBI36
Celera	8	140,302,233 - 140,302,919	UniSTS
Celera	8	140,264,815 - 140,265,495	RGD
HuRef	8	139,245,056 - 139,245,742	UniSTS
HuRef	8	139,207,455 - 139,208,135	UniSTS

CYP11B2_1990

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,991,834 - 143,992,539	UniSTS	GRCh37
Build 36	8	143,988,836 - 143,989,541	RGD	NCBI36
Celera	8	140,301,280 - 140,301,985	RGD
HuRef	8	139,244,103 - 139,244,808	UniSTS

RH18106

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,992,059 - 143,992,310	UniSTS	GRCh37
Build 36	8	143,989,061 - 143,989,312	RGD	NCBI36
Celera	8	140,301,505 - 140,301,756	RGD
Cytogenetic Map	8	q21-q22	UniSTS
HuRef	8	139,244,328 - 139,244,579	UniSTS
GeneMap99-GB4 RH Map	8	547.4	UniSTS

RH79160

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,992,098 - 143,992,274	UniSTS	GRCh37
Build 36	8	143,989,100 - 143,989,276	RGD	NCBI36
Celera	8	140,301,544 - 140,301,720	RGD
Cytogenetic Map	8	q21-q22	UniSTS
HuRef	8	139,244,367 - 139,244,543	UniSTS
GeneMap99-GB4 RH Map	8	561.19	UniSTS

STS-M32879

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	143,992,642 - 143,992,804	UniSTS	GRCh37
GRCh37	8	143,955,041 - 143,955,203	UniSTS	GRCh37
Build 36	8	143,952,043 - 143,952,205	RGD	NCBI36
Celera	8	140,302,088 - 140,302,250	UniSTS
Celera	8	140,264,670 - 140,264,832	RGD
Cytogenetic Map	8	q21-q22	UniSTS
Cytogenetic Map	8	q21	UniSTS
HuRef	8	139,207,310 - 139,207,472	UniSTS
HuRef	8	139,244,911 - 139,245,073	UniSTS
GeneMap99-GB4 RH Map	8	557.34	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

	alimentary part of gastrointestinal system	circulatory system	endocrine system	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	adipose tissue	appendage
High			17
Medium		2	232	2		1			1				1
Low	10	8	24	7	3	6	17	6	11	2	17	6	1	5	12
Below cutoff	752	754	464	174	440	122	1003	571	1168	53	667	427	52	315	664

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC073385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH001448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH004767	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D13752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU326306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S77397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X54741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000323110 ⟹ ENSP00000325822

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	142,910,559 - 142,917,843 (-)	Ensembl

RefSeq Acc Id:

NM_000498 ⟹ NP_000489

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	142,910,559 - 142,917,843 (-)	NCBI
GRCh37	8	143,991,975 - 143,999,259 (-)	ENTREZGENE
Build 36	8	143,988,977 - 143,996,261 (-)	NCBI Archive
HuRef	8	139,244,244 - 139,251,515 (-)	ENTREZGENE
CHM1_1	8	144,032,236 - 144,039,525 (-)	NCBI
T2T-CHM13v2.0	8	144,053,900 - 144,061,172 (-)	NCBI

Sequence:

show sequence

GGAATGGCACTCAGGGCAAAGGCAGAGGTGTGCGTGGCAGCGCCCTGGCTGTCCCTGCAAAGGG
CACGGGCACTGGGCACTAGAGCCGCTCGGGCCCCTAGGACGGTGCTGCCGTTTGAAGCCATGCC
CCAGCATCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGTTATGAGCAC
CTGCACCTGGAGATGCACCAGACCTTCCAGGAGCTGGGGCCCATTTTCAGGTACAACTTGGGAG
GACCACGCATGGTGTGTGTGATGCTGCCGGAGGATGTGGAGAAGCTGCAACAGGTGGACAGCCT
GCATCCCTGCAGGATGATCCTGGAGCCCTGGGTGGCCTACAGACAACATCGTGGGCACAAATGT
GGCGTGTTCTTGTTGAATGGGCCTGAATGGCGCTTCAACCGATTGCGGCTGAACCCAGATGTGC
TGTCGCCCAAGGCCGTGCAGAGGTTCCTCCCGATGGTGGATGCAGTGGCCAGGGACTTCTCCCA
GGCCCTGAAGAAGAAGGTGCTGCAGAACGCCCGGGGGAGCCTGACCCTGGACGTCCAGCCCAGC
ATCTTCCACTACACCATAGAAGCCAGCAACTTAGCTCTTTTTGGAGAGCGGCTGGGCCTGGTTG
GCCACAGCCCCAGTTCTGCCAGCCTGAACTTCCTCCATGCCCTGGAGGTCATGTTCAAATCCAC
CGTCCAGCTCATGTTCATGCCCAGGAGCCTGTCTCGCTGGATCAGCCCCAAGGTGTGGAAGGAG
CACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGACAACTGTATCCAGAAAATCTACCAGG
AACTGGCCTTCAACCGCCCTCAACACTACACAGGCATCGTGGCGGAGCTCCTGTTGAAGGCGGA
ACTGTCACTAGAAGCCATCAAGGCCAACTCTATGGAACTCACTGCAGGGAGCGTGGACACGACA
GCGTTTCCCTTGCTGATGACGCTCTTTGAGCTGGCTCGGAACCCCGACGTGCAGCAGATCCTGC
GCCAGGAGAGCCTGGCCGCCGCAGCCAGCATCAGTGAACATCCCCAGAAGGCAACCACCGAGCT
GCCCTTGCTGCGGGCGGCCCTCAAGGAGACCTTGCGGCTCTACCCTGTGGGTCTGTTTTTGGAG
CGAGTGGTGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGACATTGGTACAGG
TTTTCCTCTACTCGCTGGGTCGCAATGCCGCCTTGTTCCCGAGGCCTGAGCGGTATAATCCCCA
GCGCTGGCTAGACATCAGGGGCTCCGGCAGGAACTTCCACCACGTGCCCTTTGGCTTTGGCATG
CGCCAGTGCCTCGGGCGGCGCCTGGCAGAGGCAGAGATGCTGCTGCTGCTGCACCACGTGCTGA
AGCACTTCCTGGTGGAGACACTAACTCAAGAGGACATAAAGATGGTCTACAGCTTCATATTGAG
GCCTGGCACGTCCCCCCTCCTCACTTTCAGAGCGATTAACTAGTCTTGCATCTGCACCCAGGGT
CCCAGCCTGGCCACCAGCTTCCCTCTGCCTGACCCCAGGCCACCTGTCTTCTCTCCCACGTGCA
CAGCTTCCTGAGTCACCCCTCTGTCCAGCCAGCTCCTGCACAAATGGAACTCCCCAGGGCCTCC
AGGACTGGGGCTTGCCAGGCTTGTCAAATAGCAAGGCCAGGGCACAGCTGGAGACGATCTTGCT
GGCAGGGCCTGGCCTTGTCCCCAGCTCCACCTGGCCCCTTCTCCAGCAAGCAGTGCCCTCTGGA
CAGCTTGACTCTACTCCCAGCGCTGGCTCCAGGCTCCTCATGAGGCCATGCAAGGGTGCTGTGA
TTTTGTCCCTTGCCTTCCTGCCTAGTCTCACATGTCCCTGTCCCTCTCGCCCTGGCCAGGGCCT
CTGTGCAGACAGTGTCAGAGTCATTAAGCGGGATCCCAGCATCTCAGAGTCCAGTCAAGTTCCC
TCCTGCAGCCTGACCCCAGGCAGCTCGAGCATGCCCTGAGCTCTCTGAAAGTTGTCACCCTGGA
ATACGATCCTGCAGGGTAGACTAAAAAGGCCCCTGTGGTCACTTATCCTGACACATTTTCAAGT
GATACAACTGAGTCTCGAGGGGCGTGTGTTCCCCAGCTGATCATGTCAGCCTCATGCCCCAGGC
CTCGTCTTTCATGGACCAGGTCTTGTTCAAGCAGCGAGTGTTGGGTCCTCTGCTTCCTGAGCTG
TCCCCTGGAGAAGGTCCCGAGGATGCTGTCAGGAGATGGAAGAGTCATGTGGGGTGGGAACCTG
GGGTGTGGTTCCAGAAATGTTTTTGGCAACAGGAGAGACAGGATTGGGCCAACAAGGACTCAGA
TGAGTTTTATTGACTCATTCCTCTGGTTGATACGGAGCCATGTCATGTGCCACGACCTGGGGTG
GGCACAGGGAGGCTGCAGTTCCCTACGTGAACCTGCCTTGGGCCTCATCTGCTCCTAGCCCAGC
AGAGAGAGTTGACCCCTCCTGAACTGGCCACTCCCCAGTGCTCCTGTGCAGGGATAGGAAGTGC
CCCAGGGTGAGAACGTGCCCAGCCACATCATCTTTATCTCCTGGGATTTTCATTAGGGCAAAGA
TCTCAGCAGCCAGCTCCTGGTAGCTGATGAGGATCAGAGCGTTTGTTCCCCCATGAAAGGGGAA
ATACTTAGGTAATCATTCCAGGTGTGTTCAGTAGTTCCAGGACTCAGGGACTCAGGCCAGTCAC
CCTGTGACCGCAGGTTGCTTTCCCACCCTGGGCAATGCAGTGCAGCATGGGAAAGGAATAAGGG
GGCAACAAGGTGCACAGACCTCAGAGATGGCTTCCTTGTTTATGGGGCTCTCACAGATACCCAT
CCAACTCCTCTAGTCAGCACTAGATCATGGGATCCTAAAATAAACCTTGGAAAAAT

hide sequence

Protein Sequences


Protein RefSeqs	NP_000489	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA35741	(Get FASTA)	NCBI Sequence Viewer
	AAB34642	(Get FASTA)	NCBI Sequence Viewer
	AAB34643	(Get FASTA)	NCBI Sequence Viewer
	ACA05912	(Get FASTA)	NCBI Sequence Viewer
	BAA02899	(Get FASTA)	NCBI Sequence Viewer
	CAA38539	(Get FASTA)	NCBI Sequence Viewer
	EAW82292	(Get FASTA)	NCBI Sequence Viewer
	P19099	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_000489 ⟸ NM_000498
- Peptide Label:	precursor
- UniProtKB:	B0ZBE4 (UniProtKB/Swiss-Prot), Q16726 (UniProtKB/Swiss-Prot), P19099 (UniProtKB/Swiss-Prot), Q8TDD0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHL HLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCG VFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSI FHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFMPRSLSRWISPKVWKEH FEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTA FPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLER VVSSDLVLQNYHIPAGTLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMR QCLGRRLAEAEMLLLLHHVLKHFLVETLTQEDIKMVYSFILRPGTSPLLTFRAIN hide sequence

RefSeq Acc Id:

ENSP00000325822 ⟸ ENST00000323110

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P19099-F1-model_v2	AlphaFold	P19099	1-503	view protein structure

Promoters

RGD ID:

7214319

Promoter ID:

EPDNEW_H12906

Type:

single initiation site

Name:

CYP11B2_1

Description:

cytochrome P450 family 11 subfamily B member 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	142,917,852 - 142,917,912	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2592	AgrOrtholog
COSMIC	CYP11B2	COSMIC
Ensembl Genes	ENSG00000179142	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000325822	ENTREZGENE
	ENSP00000325822.2	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000323110	ENTREZGENE
	ENST00000323110.2	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.630.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000179142	GTEx
HGNC ID	HGNC:2592	ENTREZGENE
Human Proteome Map	CYP11B2	Human Proteome Map
InterPro	Cyt_P450	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cyt_P450_CS	UniProtKB/Swiss-Prot
	Cyt_P450_mitochondrial	UniProtKB/Swiss-Prot
	Cyt_P450_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1585	UniProtKB/Swiss-Prot
NCBI Gene	1585	ENTREZGENE
OMIM	124080	OMIM
PANTHER	CYTOCHROME P450 11B2, MITOCHONDRIAL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR24279	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	p450	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	CYP11B2	RGD, PharmGKB
PRINTS	MITP450	UniProtKB/Swiss-Prot
	P450	UniProtKB/Swiss-Prot
PROSITE	CYTOCHROME_P450	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48264	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B0ZBE4	ENTREZGENE
	C11B2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q16315_HUMAN	UniProtKB/TrEMBL
	Q16316_HUMAN	UniProtKB/TrEMBL
	Q16726	ENTREZGENE
	Q8TDD0	ENTREZGENE
UniProt Secondary	B0ZBE4	UniProtKB/Swiss-Prot
	Q16726	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	CYP11B2	cytochrome P450 family 11 subfamily B member 2		cytochrome P450, family 11, subfamily B, polypeptide 2	Symbol and/or name change	5135510	APPROVED
2011-08-16	CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar