CYP11B1 (cytochrome P450 family 11 subfamily B member 1) - Rat Genome Database

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Gene: CYP11B1 (cytochrome P450 family 11 subfamily B member 1) Homo sapiens
Analyze
Symbol: CYP11B1
Name: cytochrome P450 family 11 subfamily B member 1
RGD ID: 70835
HGNC Page HGNC:2591
Description: Enables steroid 11-beta-monooxygenase activity. Involved in several processes, including cellular response to hormone stimulus; cellular response to potassium ion; and steroid hormone biosynthetic process. Located in mitochondrion. Implicated in congenital adrenal hyperplasia; glucocorticoid-remediable aldosteronism; and primary hyperaldosteronism. Biomarker of adrenal cortical adenoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CPN1; CYP11B; CYPXIB1; cytochrome P-450c11; cytochrome P450 11B1, mitochondrial; cytochrome p450 XIB1; cytochrome P450, family 11, subfamily B, polypeptide 1; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1; cytochrome P450C11; DKFZp686B05283; FHI; FLJ36771; P450C11; steroid 11-beta-hydroxylase; steroid 11-beta-hydroxylase, CYP11B1; steroid 11-beta-monooxygenase
RGD Orthologs
Rat
Bonobo
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388142,872,357 - 142,879,825 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8142,872,356 - 142,879,846 (-)EnsemblGRCh38hg38GRCh38
GRCh378143,953,773 - 143,961,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,950,775 - 143,958,238 (-)NCBINCBI36Build 36hg18NCBI36
Build 348143,952,217 - 143,958,238NCBI
Celera8140,263,402 - 140,270,865 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,206,042 - 139,213,505 (-)NCBIHuRef
CHM1_18143,994,059 - 144,001,520 (-)NCBICHM1_1
T2T-CHM13v2.08144,015,692 - 144,023,160 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
11-deoxycorticosterone  (EXP,ISO)
11-deoxycortisol  (EXP)
18-hydroxycortisol  (EXP)
18-hydroxydeoxycorticosterone  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,3',4,4',5-Hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
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',4'-dimethoxyflavone  (EXP)
3',5'-cyclic AMP  (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)
8-Br-cAMP  (EXP)
alpha-naphthoflavone  (EXP)
androgen antagonist  (ISO)
apigenin  (EXP)
benidipine  (EXP)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (EXP)
bifenthrin  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bucladesine  (EXP)
Butylbenzyl phthalate  (ISO)
Butylparaben  (ISO)
caffeine  (ISO)
colforsin daropate hydrochloride  (EXP)
corticosterone  (EXP)
cortisol  (EXP)
cyproconazole  (ISO)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (ISO)
dibutyl phthalate  (ISO)
Dicyclohexyl phthalate  (ISO)
diethyl phthalate  (ISO)
diheptyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dipentyl phthalate  (ISO)
enniatin  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (EXP)
gentamycin  (ISO)
hydroxyitraconazole  (EXP)
itraconazole  (EXP)
ketoconazole  (EXP)
Methandrostenolone  (EXP)
methylmercury chloride  (EXP)
Mitotane  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-acetyl-L-cysteine  (EXP)
nicotine  (ISO)
paracetamol  (ISO)
perflubron  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
pirinixic acid  (ISO)
posaconazole  (EXP)
potassium chloride  (EXP)
proanthocyanidin  (EXP)
prochloraz  (EXP,ISO)
quercetin  (EXP)
rotenone  (EXP)
simvastatin  (ISO)
testosterone  (ISO)
tetramethylpyrazine  (EXP)
toluene  (ISO)
torcetrapib  (EXP)
triadimefon  (ISO)
tributylstannane  (EXP)
trichloroethene  (ISO)
triphenylstannane  (EXP,ISO)
Triptolide  (EXP)
triticonazole  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating renin concentration  (IAGP)
Abnormality of the urinary system  (IAGP)
Accelerated skeletal maturation  (IAGP)
Acne  (IAGP)
Adrenal hyperplasia  (IAGP)
Adrenogenital syndrome  (IAGP)
Adult onset  (IAGP)
Alopecia  (IAGP)
Ambiguous genitalia  (IAGP)
Ambiguous genitalia, female  (IAGP)
Arrhinencephaly  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Caesarian section  (IAGP)
Childhood onset  (IAGP)
Clitoral hypertrophy  (IAGP)
Congenital adrenal hyperplasia  (IAGP)
Decreased circulating aldosterone concentration  (IAGP)
Decreased circulating cortisol level  (IAGP)
Decreased circulating renin concentration  (IAGP)
Decreased testicular size  (IAGP)
Dexamethasone-suppressible primary hyperaldosteronism  (IAGP)
Elevated circulating 17-hydroxyprogesterone concentration  (IAGP)
Elevated serum 11-deoxycortisol  (IAGP)
Epistaxis  (IAGP)
Growth abnormality  (IAGP)
Gynecomastia  (IAGP)
Headache  (IAGP)
Hirsutism  (IAGP)
Holoprosencephaly  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertension  (IAGP)
Hypokalemia  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypoplasia of the vagina  (IAGP)
Increased circulating ACTH level  (IAGP)
Increased circulating aldosterone concentration  (IAGP)
Increased circulating androgen concentration  (IAGP)
Increased circulating androstenedione concentration  (IAGP)
Increased serum testosterone level  (IAGP)
Increased urinary 11-deoxycorticosterone level  (IAGP)
Intracranial hemorrhage  (IAGP)
Irregular menstruation  (IAGP)
Isosexual precocious puberty  (IAGP)
Juvenile onset  (IAGP)
Long penis  (IAGP)
Muscle weakness  (IAGP)
Nausea  (IAGP)
Neonatal onset  (IAGP)
Polycystic ovaries  (IAGP)
Polydipsia  (IAGP)
Precocious puberty  (IAGP)
Precocious puberty in males  (IAGP)
Preeclampsia  (IAGP)
Premature adrenarche  (IAGP)
Premature pubarche  (IAGP)
Premature thelarche  (IAGP)
Renal salt wasting  (IAGP)
Secretory adrenocortical adenoma  (IAGP)
Short stature  (IAGP)
Testicular adrenal rest tumor  (IAGP)
Tinnitus  (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. Linkage of 11 beta-hydroxylase mutations with altered steroid biosynthesis and blood pressure in the Dahl rat. Cicila GT, etal., Nat Genet 1993 Apr;3(4):346-53.
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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. 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.
6. Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. Helmberg A, etal., J Clin Endocrinol Metab 1992 Nov;75(5):1278-81.
7. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
8. 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.
9. Cardiac steroidogenesis and glucocorticoid in the development of cardiac hypertrophy during the progression to heart failure. Ohtani T, etal., J Hypertens. 2009 May;27(5):1074-83.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. 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.
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. Skinner CA, etal., J Clin Endocrinol Metab. 1996 Jun;81(6):2389-93.
Additional References at PubMed
PMID:1303253   PMID:1518866   PMID:1741400   PMID:2022736   PMID:2256920   PMID:2401360   PMID:2592361   PMID:3499608   PMID:7903314   PMID:8372604   PMID:8506298   PMID:9302260  
PMID:10391209   PMID:10391210   PMID:10411633   PMID:10599751   PMID:11095433   PMID:11549669   PMID:11549691   PMID:11675945   PMID:11903322   PMID:11932209   PMID:12452430   PMID:12477932  
PMID:14682466   PMID:14702039   PMID:15026188   PMID:15062555   PMID:15128046   PMID:15324322   PMID:15507509   PMID:15522937   PMID:15699546   PMID:15751602   PMID:15755848   PMID:15793791  
PMID:16030166   PMID:16110193   PMID:16114325   PMID:16396990   PMID:16984984   PMID:17075029   PMID:17121536   PMID:17296872   PMID:17556864   PMID:17651452   PMID:17980006   PMID:18215163  
PMID:18294861   PMID:18397978   PMID:18636124   PMID:18661760   PMID:18663314   PMID:18974272   PMID:19082699   PMID:19336370   PMID:19342457   PMID:19453261   PMID:19490893   PMID:19567537  
PMID:19598235   PMID:19820005   PMID:19844114   PMID:19913121   PMID:20089618   PMID:20214802   PMID:20331679   PMID:20339375   PMID:20486282   PMID:20523022   PMID:20529578   PMID:20628086  
PMID:20634641   PMID:20708777   PMID:20808686   PMID:20877624   PMID:20947076   PMID:21164264   PMID:21625068   PMID:21848792   PMID:21873635   PMID:22083159   PMID:22217843   PMID:22921894  
PMID:22964742   PMID:23146819   PMID:23150505   PMID:23345044   PMID:23825130   PMID:24022297   PMID:24536089   PMID:24837548   PMID:25100385   PMID:25911436   PMID:25913739   PMID:26066897  
PMID:26476331   PMID:26806323   PMID:26956189   PMID:27376426   PMID:27376433   PMID:28228528   PMID:28355486   PMID:28514642   PMID:28894201   PMID:28962970   PMID:29626607   PMID:29703198  
PMID:29734384   PMID:30242600   PMID:30425102   PMID:31586073   PMID:31982514   PMID:32687482   PMID:33245660   PMID:33271253   PMID:34743356   PMID:34754074   PMID:34800366   PMID:34821221  
PMID:35012455   PMID:35831903   PMID:36929050   PMID:37486441   PMID:38285409   PMID:38858218  


Genomics

Comparative Map Data
CYP11B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388142,872,357 - 142,879,825 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8142,872,356 - 142,879,846 (-)EnsemblGRCh38hg38GRCh38
GRCh378143,953,773 - 143,961,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,950,775 - 143,958,238 (-)NCBINCBI36Build 36hg18NCBI36
Build 348143,952,217 - 143,958,238NCBI
Celera8140,263,402 - 140,270,865 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,206,042 - 139,213,505 (-)NCBIHuRef
CHM1_18143,994,059 - 144,001,520 (-)NCBICHM1_1
T2T-CHM13v2.08144,015,692 - 144,023,160 (-)NCBIT2T-CHM13v2.0
Cyp11b2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87108,719,349 - 108,726,024 (-)NCBIGRCr8
mRatBN7.27106,838,590 - 106,845,004 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7106,838,590 - 106,845,004 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7108,564,515 - 108,570,947 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07110,788,181 - 110,794,613 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07110,734,122 - 110,740,554 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07116,248,759 - 116,255,205 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7116,156,219 - 116,255,167 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07116,151,128 - 116,157,542 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,043,365 - 113,049,779 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17113,077,595 - 113,084,003 (-)NCBI
Celera7103,210,977 - 103,217,398 (-)NCBICelera
Cytogenetic Map7q34NCBI
CYP11B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27160,309,139 - 160,316,623 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18135,835,342 - 135,842,827 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08139,584,976 - 139,592,466 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18142,628,706 - 142,634,654 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,629,127 - 142,634,654 (-)Ensemblpanpan1.1panPan2
CYP11B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,125,409 - 137,132,267 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660392,814,491 - 2,820,047 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CYP11B1
738 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000497.4(CYP11B1):c.75C>A (p.Gly25=) single nucleotide variant not provided [RCV001494549] Chr8:142879739 [GRCh38]
Chr8:143961155 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002496996]|not provided [RCV000516859] Chr8:142875089 [GRCh38]
Chr8:143956505 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.617G>T (p.Gly206Val) single nucleotide variant Glucocorticoid-remediable aldosteronism [RCV003989549]|not specified [RCV000517090] Chr8:142876864 [GRCh38]
Chr8:143958280 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) deletion CYP11B1-related disorder [RCV003403212]|Deficiency of steroid 11-beta-monooxygenase [RCV000668755]|Deficiency of steroid 11-beta-monooxygenase [RCV002481670]|not provided [RCV000518608] Chr8:142875253 [GRCh38]
Chr8:143956669 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) single nucleotide variant Congenital adrenal hyperplasia [RCV000029633]|Deficiency of steroid 11-beta-monooxygenase [RCV001095249]|Glucocorticoid-remediable aldosteronism [RCV000271806]|not provided [RCV000874647]|not specified [RCV000518202] Chr8:142875830 [GRCh38]
Chr8:143957246 [GRCh37]
Chr8:8q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr) single nucleotide variant Congenital adrenal hyperplasia [RCV000029634]|Deficiency of steroid 11-beta-monooxygenase [RCV002477017]|Inborn genetic diseases [RCV004018684]|not specified [RCV000516792] Chr8:142875818 [GRCh38]
Chr8:143957234 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) indel Congenital adrenal hyperplasia [RCV000029635]|Deficiency of steroid 11-beta-monooxygenase [RCV002482914] Chr8:142875817..142875818 [GRCh38]
Chr8:143957233..143957234 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val) single nucleotide variant Congenital adrenal hyperplasia [RCV000029636]|Inborn genetic diseases [RCV002513246] Chr8:142875817 [GRCh38]
Chr8:143957233 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000029637]|Deficiency of steroid 11-beta-monooxygenase [RCV002477018]|Glucocorticoid-remediable aldosteronism [RCV000397180]|not provided [RCV000711393]|not specified [RCV000454869] Chr8:142875713 [GRCh38]
Chr8:143957129 [GRCh37]
Chr8:8q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) single nucleotide variant Congenital adrenal hyperplasia [RCV000029638]|Deficiency of steroid 11-beta-monooxygenase [RCV002250464]|Deficiency of steroid 11-beta-monooxygenase [RCV002496449]|not provided [RCV004767021] Chr8:142875713 [GRCh38]
Chr8:143957129 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.1122-12C>T single nucleotide variant Congenital adrenal hyperplasia [RCV000029639]|not provided [RCV003546459] Chr8:142875324 [GRCh38]
Chr8:143956740 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.1122-20A>G single nucleotide variant Congenital adrenal hyperplasia [RCV000029640]|Deficiency of steroid 11-beta-monooxygenase [RCV001250135]|not provided [RCV000711394] Chr8:142875332 [GRCh38]
Chr8:143956748 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) single nucleotide variant Congenital adrenal hyperplasia [RCV000029641]|Deficiency of steroid 11-beta-monooxygenase [RCV001095138]|Glucocorticoid-remediable aldosteronism [RCV000291528]|not provided [RCV000874744] Chr8:142875290 [GRCh38]
Chr8:143956706 [GRCh37]
Chr8:8q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) single nucleotide variant Congenital adrenal hyperplasia [RCV000029643]|Deficiency of steroid 11-beta-monooxygenase [RCV002482915]|Deficiency of steroid 11-beta-monooxygenase [RCV003460492]|not provided [RCV001852593] Chr8:142879689 [GRCh38]
Chr8:143961105 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) single nucleotide variant Congenital adrenal hyperplasia [RCV000029644]|Deficiency of steroid 11-beta-monooxygenase [RCV001095256]|Glucocorticoid-remediable aldosteronism [RCV000398212]|not provided [RCV000874015] Chr8:142879184 [GRCh38]
Chr8:143960600 [GRCh37]
Chr8:8q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile) single nucleotide variant Congenital adrenal hyperplasia [RCV000029645] Chr8:142879163 [GRCh38]
Chr8:143960579 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158699]|Glucocorticoid-remediable aldosteronism [RCV001165427]|not provided [RCV003565385]|not specified [RCV004700284] Chr8:142877205 [GRCh38]
Chr8:143958621 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000497.4(CYP11B1):c.799+2T>C single nucleotide variant Congenital adrenal hyperplasia [RCV000029648] Chr8:142876680 [GRCh38]
Chr8:143958096 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.799+5G>C single nucleotide variant CYP11B1-related disorder [RCV003952372]|Congenital adrenal hyperplasia [RCV000029649]|Deficiency of steroid 11-beta-monooxygenase [RCV000665430]|Deficiency of steroid 11-beta-monooxygenase [RCV002504827]|not provided [RCV000517998] Chr8:142876677 [GRCh38]
Chr8:143958093 [GRCh37]
Chr8:8q24.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) single nucleotide variant CYP11B1-related disorder [RCV004751188]|Deficiency of steroid 11-beta-monooxygenase [RCV000001230]|Deficiency of steroid 11-beta-monooxygenase [RCV002496223]|Glucocorticoid-remediable aldosteronism [RCV001199200]|not provided [RCV000791917] Chr8:142875012 [GRCh38]
Chr8:143956428 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NC_000008.11:g.(142876886_142877022)_(142914909_142915045)dup duplication Glucocorticoid-remediable aldosteronism [RCV000001231] Chr8:142877022..142914909 [GRCh38]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001232]|Deficiency of steroid 11-beta-monooxygenase [RCV002504733]|not provided [RCV001066246] Chr8:142876242 [GRCh38]
Chr8:143957658 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001233]|not provided [RCV001851528] Chr8:142875712 [GRCh38]
Chr8:143957128 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
CYP11B1, 2-BP INS insertion Deficiency of steroid 11-beta-monooxygenase [RCV000001234] Chr8:8q21 pathogenic
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001235] Chr8:142879080 [GRCh38]
Chr8:143960496 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001236] Chr8:142877221 [GRCh38]
Chr8:143958637 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001237]|Deficiency of steroid 11-beta-monooxygenase [RCV002496224]|Glucocorticoid-remediable aldosteronism [RCV002247232]|not provided [RCV001781159] Chr8:142875877 [GRCh38]
Chr8:143957293 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) single nucleotide variant Congenital adrenal hyperplasia [RCV000029642]|Deficiency of steroid 11-beta-monooxygenase [RCV000001238]|Deficiency of steroid 11-beta-monooxygenase [RCV002476907]|not provided [RCV001851529] Chr8:142879690 [GRCh38]
Chr8:143961106 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|not provided
CYP11B1, 954G-A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001239] Chr8:8q21 pathogenic
NM_000497.4(CYP11B1):c.1398+4A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001240]|Deficiency of steroid 11-beta-monooxygenase [RCV002496225] Chr8:142874953 [GRCh38]
Chr8:143956369 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NC_000008.11:g.(142876396_142876681)_(142914419_142914704)del deletion Deficiency of steroid 11-beta-monooxygenase [RCV000001241] Chr8:142876681..142914419 [GRCh38]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.595+16G>T single nucleotide variant Congenital adrenal hyperplasia [RCV004585979]|Deficiency of steroid 11-beta-monooxygenase [RCV000001242] Chr8:142877007 [GRCh38]
Chr8:143958423 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
CYP11B1, CYP11B1/CYP11B2 CHIMERA deletion Deficiency of steroid 11-beta-monooxygenase [RCV000001243] Chr8:8q21 pathogenic
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) single nucleotide variant CYP11B1-related disorder [RCV003415613]|Deficiency of steroid 11-beta-monooxygenase [RCV000001244]|not provided [RCV001851530] Chr8:142875086 [GRCh38]
Chr8:143956502 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) single nucleotide variant Congenital adrenal hyperplasia [RCV000029646]|Deficiency of steroid 11-beta-monooxygenase [RCV000001245]|Deficiency of steroid 11-beta-monooxygenase [RCV002490289]|not provided [RCV000517938] Chr8:142879146 [GRCh38]
Chr8:143960562 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|not provided
NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001246] Chr8:142875730 [GRCh38]
Chr8:143957146 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) single nucleotide variant CYP11B1-related disorder [RCV004751577]|Congenital adrenal hyperplasia [RCV003387864]|Deficiency of steroid 11-beta-monooxygenase [RCV000667365]|not provided [RCV000516213] Chr8:142876241 [GRCh38]
Chr8:143957657 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.50C>T (p.Ser17Phe) single nucleotide variant not provided [RCV002060237]|not specified [RCV000516509] Chr8:142879764 [GRCh38]
Chr8:143961180 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.702C>T (p.Thr234=) single nucleotide variant not provided [RCV001495029] Chr8:142876779 [GRCh38]
Chr8:143958195 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050222]|Deficiency of steroid 11-beta-monooxygenase [RCV000763178]|not provided [RCV000711392] Chr8:142875767 [GRCh38]
Chr8:143957183 [GRCh37]
Chr8:8q24.3		 pathogenic|not provided
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050223]|not provided [RCV001781383] Chr8:142877191 [GRCh38]
Chr8:143958607 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|not provided
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050224]|not provided [RCV000991870] Chr8:142876299 [GRCh38]
Chr8:143957715 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|not provided
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050225]|not provided [RCV001239586] Chr8:142876278 [GRCh38]
Chr8:143957694 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|not provided
NM_000497.4(CYP11B1):c.928G>A (p.Glu310Lys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050226] Chr8:142876267 [GRCh38]
Chr8:143957683 [GRCh37]
Chr8:8q24.3		 not provided
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050227]|not provided [RCV001382848] Chr8:142875838 [GRCh38]
Chr8:143957254 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|not provided
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
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) single nucleotide variant CYP11B1-related disorder [RCV003421968]|Deficiency of steroid 11-beta-monooxygenase [RCV000673573]|not provided [RCV000711402] Chr8:142877196 [GRCh38]
Chr8:143958612 [GRCh37]
Chr8:143955614 [NCBI36]
Chr8:8q24.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000497.3(CYP11B1):c.396-536A>G single nucleotide variant Malignant melanoma [RCV000068192] Chr8:142877758 [GRCh38]
Chr8:143959174 [GRCh37]
Chr8:143956176 [NCBI36]
Chr8:8q24.3		 not provided
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(chr8:142809777-142910556)x3 copy number gain See cases [RCV000139849] Chr8:142809777..142910556 [GRCh38]
Chr8:143891193..143991972 [GRCh37]
Chr8:143888195..143988974 [NCBI36]
Chr8:8q24.3		 uncertain significance
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 8q24.3(chr8:142763122-142880038)x3 copy number gain See cases [RCV000140669] Chr8:142763122..142880038 [GRCh38]
Chr8:143844540..143961454 [GRCh37]
Chr8:143841542..143958456 [NCBI36]
Chr8:8q24.3		 likely benign
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 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 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_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000672120]|Deficiency of steroid 11-beta-monooxygenase [RCV002494612]|not provided [RCV000224289] Chr8:142875024 [GRCh38]
Chr8:143956440 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000670507] Chr8:142879123 [GRCh38]
Chr8:143960539 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) insertion Deficiency of steroid 11-beta-monooxygenase [RCV000668927]|not provided [RCV000517484] Chr8:142876353..142876354 [GRCh38]
Chr8:143957769..143957770 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000272874]|Glucocorticoid-remediable aldosteronism [RCV000320919]|not provided [RCV000877983] Chr8:142876875 [GRCh38]
Chr8:143958291 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*245C>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000396632]|Glucocorticoid-remediable aldosteronism [RCV000344586] Chr8:142874128 [GRCh38]
Chr8:143955544 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.239+13C>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000287575]|Glucocorticoid-remediable aldosteronism [RCV000344850]|not provided [RCV001707684]|not specified [RCV001289402] Chr8:142879562 [GRCh38]
Chr8:143960978 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*670A>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000337434]|Glucocorticoid-remediable aldosteronism [RCV000394825] Chr8:142873703 [GRCh38]
Chr8:143955119 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.800-14C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000314377]|Glucocorticoid-remediable aldosteronism [RCV000395352]|not provided [RCV000516230] Chr8:142876409 [GRCh38]
Chr8:143957825 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000335488]|Glucocorticoid-remediable aldosteronism [RCV000395358]|not provided [RCV000873646]|not specified [RCV001289403] Chr8:142876370 [GRCh38]
Chr8:143957786 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*738G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000383461]|Glucocorticoid-remediable aldosteronism [RCV000284379]|not provided [RCV001594998] Chr8:142873635 [GRCh38]
Chr8:143955051 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000323554]|Glucocorticoid-remediable aldosteronism [RCV000284859]|not provided [RCV000874014] Chr8:142876265 [GRCh38]
Chr8:143957681 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.*718T>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000335804]|Glucocorticoid-remediable aldosteronism [RCV000285529] Chr8:142873655 [GRCh38]
Chr8:143955071 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*634G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000311738]|Glucocorticoid-remediable aldosteronism [RCV000371065] Chr8:142873739 [GRCh38]
Chr8:143955155 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000401123]|Glucocorticoid-remediable aldosteronism [RCV000371156] Chr8:142876733 [GRCh38]
Chr8:143958149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000309802]|Glucocorticoid-remediable aldosteronism [RCV000396739]|not provided [RCV001512041]|not specified [RCV001529237] Chr8:142879589 [GRCh38]
Chr8:143961005 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1076C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000283544]|Glucocorticoid-remediable aldosteronism [RCV000397287] Chr8:142873297 [GRCh38]
Chr8:143954713 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*1871T>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000310182]|Glucocorticoid-remediable aldosteronism [RCV000269132] Chr8:142872502 [GRCh38]
Chr8:143953918 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*848C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000328910]|Glucocorticoid-remediable aldosteronism [RCV000269207] Chr8:142873525 [GRCh38]
Chr8:143954941 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*132T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000398771]|Glucocorticoid-remediable aldosteronism [RCV000303302]|not provided [RCV001653733] Chr8:142874241 [GRCh38]
Chr8:143955657 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1435T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000358563]|Glucocorticoid-remediable aldosteronism [RCV000303764] Chr8:142872938 [GRCh38]
Chr8:143954354 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000342727]|Deficiency of steroid 11-beta-monooxygenase [RCV002488811]|Glucocorticoid-remediable aldosteronism [RCV000304249]|not provided [RCV000517718] Chr8:142875735 [GRCh38]
Chr8:143957151 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*1499C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000400210]|Glucocorticoid-remediable aldosteronism [RCV000347968]|not provided [RCV004712522] Chr8:142872874 [GRCh38]
Chr8:143954290 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000324614]|Glucocorticoid-remediable aldosteronism [RCV000372260]|not provided [RCV000711404] Chr8:142877064 [GRCh38]
Chr8:143958480 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*1512G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000307226]|Glucocorticoid-remediable aldosteronism [RCV000398997] Chr8:142872861 [GRCh38]
Chr8:143954277 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*1417G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000268559]|Glucocorticoid-remediable aldosteronism [RCV000305031]|not provided [RCV004712523] Chr8:142872956 [GRCh38]
Chr8:143954372 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000357120]|Glucocorticoid-remediable aldosteronism [RCV000400145]|not provided [RCV001512038] Chr8:142875747 [GRCh38]
Chr8:143957163 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000344753]|Glucocorticoid-remediable aldosteronism [RCV000287487]|not provided [RCV001515368] Chr8:142875277 [GRCh38]
Chr8:143956693 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000282706]|Glucocorticoid-remediable aldosteronism [RCV000349385]|not provided [RCV000875628] Chr8:142876372 [GRCh38]
Chr8:143957788 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*400C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000293179]|Glucocorticoid-remediable aldosteronism [RCV000350476] Chr8:142873973 [GRCh38]
Chr8:143955389 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*468C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000319051]|Glucocorticoid-remediable aldosteronism [RCV000375946] Chr8:142873905 [GRCh38]
Chr8:143955321 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*1555del deletion Congenital adrenal hyperplasia [RCV000296435]|Glucocorticoid-remediable aldosteronism [RCV000351310] Chr8:142872818 [GRCh38]
Chr8:143954234 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.*613A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000401714]|Glucocorticoid-remediable aldosteronism [RCV000308215] Chr8:142873760 [GRCh38]
Chr8:143955176 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000365375]|Glucocorticoid-remediable aldosteronism [RCV000308366]|not provided [RCV000873572]|not specified [RCV000422800] Chr8:142876738 [GRCh38]
Chr8:143958154 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.954+9G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000376915]|Glucocorticoid-remediable aldosteronism [RCV000329356]|not provided [RCV001479988] Chr8:142876232 [GRCh38]
Chr8:143957648 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*1258G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000275454]|Glucocorticoid-remediable aldosteronism [RCV000330586] Chr8:142873115 [GRCh38]
Chr8:143954531 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*923G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000312470]|Glucocorticoid-remediable aldosteronism [RCV000400670]|not provided [RCV001533939] Chr8:142873450 [GRCh38]
Chr8:143954866 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1042A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000343186]|Glucocorticoid-remediable aldosteronism [RCV000401464]|not provided [RCV001636998] Chr8:142873331 [GRCh38]
Chr8:143954747 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*193A>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000347855]|Glucocorticoid-remediable aldosteronism [RCV000309315]|not provided [RCV004705455] Chr8:142874180 [GRCh38]
Chr8:143955596 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000665161]|Glucocorticoid-remediable aldosteronism [RCV000354829]|not provided [RCV000711398] Chr8:142874434 [GRCh38]
Chr8:143955850 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*737C>T single nucleotide variant Congenital adrenal hyperplasia [RCV000320620]|Glucocorticoid-remediable aldosteronism [RCV000379908] Chr8:142873636 [GRCh38]
Chr8:143955052 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000278114]|Glucocorticoid-remediable aldosteronism [RCV000380524]|not provided [RCV001512123]|not specified [RCV000518376] Chr8:142876322 [GRCh38]
Chr8:143957738 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*471A>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000379427]|Glucocorticoid-remediable aldosteronism [RCV000259195]|not provided [RCV004712526] Chr8:142873902 [GRCh38]
Chr8:143955318 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1138del deletion Congenital adrenal hyperplasia [RCV000346760]|Glucocorticoid-remediable aldosteronism [RCV000291805] Chr8:142873235 [GRCh38]
Chr8:143954651 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.*1622C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000316337]|Glucocorticoid-remediable aldosteronism [RCV000261142] Chr8:142872751 [GRCh38]
Chr8:143954167 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*901G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000367235]|Glucocorticoid-remediable aldosteronism [RCV000277343] Chr8:142873472 [GRCh38]
Chr8:143954888 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000385596]|Glucocorticoid-remediable aldosteronism [RCV000293653]|not provided [RCV001512040]|not specified [RCV001528546] Chr8:142879181 [GRCh38]
Chr8:143960597 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1399-14G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000319378]|Glucocorticoid-remediable aldosteronism [RCV000261882]|not provided [RCV002058705]|not specified [RCV000518677] Chr8:142874500 [GRCh38]
Chr8:143955916 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000325754]|Glucocorticoid-remediable aldosteronism [RCV000277689]|not provided [RCV000877389]|not specified [RCV000499909] Chr8:142875819 [GRCh38]
Chr8:143957235 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000369678]|Glucocorticoid-remediable aldosteronism [RCV000312683]|not provided [RCV002058706]|not specified [RCV000503743] Chr8:142875791 [GRCh38]
Chr8:143957207 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.595+12G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000266926]|Glucocorticoid-remediable aldosteronism [RCV000359290]|not provided [RCV001512039]|not specified [RCV001529766] Chr8:142877011 [GRCh38]
Chr8:143958427 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000274881]|Glucocorticoid-remediable aldosteronism [RCV000385679]|not provided [RCV000873561]|not specified [RCV000517786] Chr8:142875002 [GRCh38]
Chr8:143956418 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*1566G>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000350010]|Glucocorticoid-remediable aldosteronism [RCV000385918]|not provided [RCV004712521] Chr8:142872807 [GRCh38]
Chr8:143954223 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1209C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000389700]|Glucocorticoid-remediable aldosteronism [RCV000295446] Chr8:142873164 [GRCh38]
Chr8:143954580 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000268296]|Glucocorticoid-remediable aldosteronism [RCV000360638]|not provided [RCV001425759] Chr8:142874397 [GRCh38]
Chr8:143955813 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.375C>G (p.His125Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000318740]|Glucocorticoid-remediable aldosteronism [RCV000280074]|Inborn genetic diseases [RCV004022070]|not provided [RCV000878847] Chr8:142879052 [GRCh38]
Chr8:143960468 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*318A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000388596]|Glucocorticoid-remediable aldosteronism [RCV000296570]|not provided [RCV004712527] Chr8:142874055 [GRCh38]
Chr8:143955471 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1020C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000356758]|Glucocorticoid-remediable aldosteronism [RCV000297239]|not provided [RCV001712765] Chr8:142873353 [GRCh38]
Chr8:143954769 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000304435]|Glucocorticoid-remediable aldosteronism [RCV000361436]|not provided [RCV000876416] Chr8:142879710 [GRCh38]
Chr8:143961126 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*516A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000273065]|Glucocorticoid-remediable aldosteronism [RCV000363072]|not provided [RCV004712525] Chr8:142873857 [GRCh38]
Chr8:143955273 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000401066]|Glucocorticoid-remediable aldosteronism [RCV000298406]|not provided [RCV000918087] Chr8:142875743 [GRCh38]
Chr8:143957159 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000398709]|Glucocorticoid-remediable aldosteronism [RCV000339466]|not provided [RCV001515369]|not specified [RCV001805029] Chr8:142879686 [GRCh38]
Chr8:143961102 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*857T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000332454]|Glucocorticoid-remediable aldosteronism [RCV000363817] Chr8:142873516 [GRCh38]
Chr8:143954932 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*1852T>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000265547]|Glucocorticoid-remediable aldosteronism [RCV000364820]|not provided [RCV004712520] Chr8:142872521 [GRCh38]
Chr8:143953937 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*694T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000394822]|Glucocorticoid-remediable aldosteronism [RCV000282385]|not provided [RCV001594999] Chr8:142873679 [GRCh38]
Chr8:143955095 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1288A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000356205]|Glucocorticoid-remediable aldosteronism [RCV000320128]|not provided [RCV004712524] Chr8:142873085 [GRCh38]
Chr8:143954501 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1770A>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000379863]|Glucocorticoid-remediable aldosteronism [RCV000320538] Chr8:142872603 [GRCh38]
Chr8:143954019 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*1590G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000375733]|Glucocorticoid-remediable aldosteronism [RCV000281238] Chr8:142872783 [GRCh38]
Chr8:143954199 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1358T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000260308]|Glucocorticoid-remediable aldosteronism [RCV000354069] Chr8:142873015 [GRCh38]
Chr8:143954431 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*485C>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000324878]|Glucocorticoid-remediable aldosteronism [RCV000264968] Chr8:142873888 [GRCh38]
Chr8:143955304 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1476C>A (p.Ser492Arg) single nucleotide variant not provided [RCV002283263] Chr8:142874409 [GRCh38]
Chr8:143955825 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.77C>T (p.Thr26Met) single nucleotide variant not provided [RCV000487967] Chr8:142879737 [GRCh38]
Chr8:143961153 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000332351]|Deficiency of steroid 11-beta-monooxygenase [RCV002504183]|Glucocorticoid-remediable aldosteronism [RCV000389302] Chr8:142875150 [GRCh38]
Chr8:143956566 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002481671]|not specified [RCV000517023] Chr8:142879788 [GRCh38]
Chr8:143961204 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*495C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000359595]|Glucocorticoid-remediable aldosteronism [RCV000309572] Chr8:142873878 [GRCh38]
Chr8:143955294 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1164G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000381423]|Glucocorticoid-remediable aldosteronism [RCV000326825] Chr8:142873209 [GRCh38]
Chr8:143954625 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.969G>T (p.Leu323Phe) single nucleotide variant not provided [RCV004691824]|not specified [RCV000517472] Chr8:142875864 [GRCh38]
Chr8:143957280 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 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
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
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002481537]|not provided [RCV000484244] Chr8:142876360 [GRCh38]
Chr8:143957776 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.395+9C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158701]|Glucocorticoid-remediable aldosteronism [RCV001158700]|not provided [RCV000872189]|not specified [RCV000501378] Chr8:142879023 [GRCh38]
Chr8:143960439 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
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
NM_000497.4(CYP11B1):c.52del (p.Leu18fs) deletion not provided [RCV000492807] Chr8:142879762 [GRCh38]
Chr8:143961178 [GRCh37]
Chr8:8q24.3		 likely 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
NM_000497.3(CYP11B1):c.841_842ins11 (p.?) insertion Deficiency of steroid 11-beta-monooxygenase [RCV000668927] Chr8:142876353..142876354 [GRCh38]
Chr8:143957769 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.446T>C (p.Leu149Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000625625] Chr8:142877172 [GRCh38]
Chr8:143958588 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.785G>A (p.Cys262Tyr) single nucleotide variant Inborn genetic diseases [RCV003248439] Chr8:142876696 [GRCh38]
Chr8:143958112 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000625626] Chr8:142875806 [GRCh38]
Chr8:143957222 [GRCh37]
Chr8:8q24.3		 uncertain significance
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
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000672260] Chr8:142879646 [GRCh38]
Chr8:143961062 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000672937] Chr8:142877145 [GRCh38]
Chr8:143958561 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673116] Chr8:142877124 [GRCh38]
Chr8:143958540 [GRCh37]
Chr8:8q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673379]|Deficiency of steroid 11-beta-monooxygenase [RCV002477506]|Glucocorticoid-remediable aldosteronism [RCV001158704] Chr8:142879042 [GRCh38]
Chr8:143960458 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter) single nucleotide variant CYP11B1-related disorder [RCV004751658]|Deficiency of steroid 11-beta-monooxygenase [RCV000671118]|not provided [RCV002531270] Chr8:142875306 [GRCh38]
Chr8:143956722 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000669979]|not provided [RCV001227579] Chr8:142876741 [GRCh38]
Chr8:143958157 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.799+1G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673530] Chr8:142876681 [GRCh38]
Chr8:143958097 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly) single nucleotide variant CYP11B1-related disorder [RCV003420186]|Deficiency of steroid 11-beta-monooxygenase [RCV000670290]|not provided [RCV001868241] Chr8:142875721 [GRCh38]
Chr8:143957137 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000497.4(CYP11B1):c.395+1G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673849] Chr8:142879031 [GRCh38]
Chr8:143960447 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000665278] Chr8:142875277 [GRCh38]
Chr8:143956693 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667072]|not provided [RCV001040067] Chr8:142879759 [GRCh38]
Chr8:143961175 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667891]|not provided [RCV003558494] Chr8:142875841 [GRCh38]
Chr8:143957257 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000670838]|not provided [RCV000711405] Chr8:142876701 [GRCh38]
Chr8:143958117 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000674113]|not provided [RCV001233426] Chr8:142879597 [GRCh38]
Chr8:143961013 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000671379] Chr8:142879053 [GRCh38]
Chr8:143960469 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) single nucleotide variant Congenital adrenal hyperplasia [RCV002282305]|Deficiency of steroid 11-beta-monooxygenase [RCV000668553] Chr8:142879627 [GRCh38]
Chr8:143961043 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His) single nucleotide variant Congenital adrenal hyperplasia [RCV004526748]|Deficiency of steroid 11-beta-monooxygenase [RCV000672406]|Hereditary breast ovarian cancer syndrome [RCV004544930]|not provided [RCV002531315] Chr8:142874994 [GRCh38]
Chr8:143956410 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000672570]|not provided [RCV001224692] Chr8:142876242 [GRCh38]
Chr8:143957658 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000674543] Chr8:142876702 [GRCh38]
Chr8:143958118 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000667039]|not provided [RCV000820022] Chr8:142879083..142879110 [GRCh38]
Chr8:143960499..143960526 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.372del (p.His125fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000667181] Chr8:142879055 [GRCh38]
Chr8:143960471 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs) deletion CYP11B1-related disorder [RCV003420179]|Deficiency of steroid 11-beta-monooxygenase [RCV000667414] Chr8:142874399 [GRCh38]
Chr8:143955815 [GRCh37]
Chr8:8q24.3		 pathogenic|uncertain significance
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000670970]|Deficiency of steroid 11-beta-monooxygenase [RCV002477503]|not provided [RCV004696975]|not specified [RCV002509501] Chr8:142875075 [GRCh38]
Chr8:143956491 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000665111] Chr8:142876841..142876849 [GRCh38]
Chr8:143958257..143958265 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000665440]|Deficiency of steroid 11-beta-monooxygenase [RCV002477481]|not provided [RCV002281122] Chr8:142875812 [GRCh38]
Chr8:143957228 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000674379]|not provided [RCV001855607] Chr8:142879769 [GRCh38]
Chr8:143961185 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.595+1G>A single nucleotide variant Congenital adrenal hyperplasia [RCV003230566]|Deficiency of steroid 11-beta-monooxygenase [RCV000667755]|not provided [RCV000732722] Chr8:142877022 [GRCh38]
Chr8:143958438 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs) duplication Deficiency of steroid 11-beta-monooxygenase [RCV000667792] Chr8:142875274..142875275 [GRCh38]
Chr8:143956690..143956691 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.147del (p.Trp49fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000674573] Chr8:142879667 [GRCh38]
Chr8:143961083 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000666356] Chr8:142875150 [GRCh38]
Chr8:143956566 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000668003]|not provided [RCV002530733] Chr8:142877206 [GRCh38]
Chr8:143958622 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) single nucleotide variant Congenital adrenal hyperplasia [RCV004702305]|Deficiency of steroid 11-beta-monooxygenase [RCV000673616] Chr8:142875289 [GRCh38]
Chr8:143956705 [GRCh37]
Chr8:8q24.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.1398+2T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000674749] Chr8:142874955 [GRCh38]
Chr8:143956371 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000668604]|Glucocorticoid-remediable aldosteronism [RCV001161915]|not provided [RCV001868223] Chr8:142879081 [GRCh38]
Chr8:143960497 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) single nucleotide variant Congenital adrenal hyperplasia [RCV002271551]|Deficiency of steroid 11-beta-monooxygenase [RCV000665385] Chr8:142879579 [GRCh38]
Chr8:143960995 [GRCh37]
Chr8:8q24.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.955-15_955-1del deletion Deficiency of steroid 11-beta-monooxygenase [RCV000664656] Chr8:142875879..142875893 [GRCh38]
Chr8:143957295..143957309 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.955-1G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000666001] Chr8:142875879 [GRCh38]
Chr8:143957295 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del) microsatellite Deficiency of steroid 11-beta-monooxygenase [RCV000664716]|Deficiency of steroid 11-beta-monooxygenase [RCV002477478]|not provided [RCV003767945] Chr8:142877093..142877095 [GRCh38]
Chr8:143958509..143958511 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667465]|Deficiency of steroid 11-beta-monooxygenase [RCV000763177]|not provided [RCV001386864] Chr8:142875283 [GRCh38]
Chr8:143956699 [GRCh37]
Chr8:8q24.3		 pathogenic|likely 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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_000497.4(CYP11B1):c.1328T>C (p.Phe443Ser) single nucleotide variant not provided [RCV000711395] Chr8:142875027 [GRCh38]
Chr8:143956443 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1398+5G>C single nucleotide variant Congenital adrenal hyperplasia [RCV003387915]|Deficiency of steroid 11-beta-monooxygenase [RCV004569402]|not provided [RCV000711396] Chr8:142874952 [GRCh38]
Chr8:143956368 [GRCh37]
Chr8:8q24.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.1443A>G (p.Ile481Met) single nucleotide variant not provided [RCV000711397] Chr8:142874442 [GRCh38]
Chr8:143955858 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.338T>G (p.Leu113Arg) single nucleotide variant not provided [RCV000711400] Chr8:142879089 [GRCh38]
Chr8:143960505 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.357C>T (p.Tyr119=) single nucleotide variant not provided [RCV000711401] Chr8:142879070 [GRCh38]
Chr8:143960486 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002477644]|not provided [RCV000711403] Chr8:142877080 [GRCh38]
Chr8:143958496 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1460T>C (p.Phe487Ser) single nucleotide variant not provided [RCV000711399] Chr8:142874425 [GRCh38]
Chr8:143955841 [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_000497.4(CYP11B1):c.240-23C>T single nucleotide variant not provided [RCV001608968] Chr8:142879210 [GRCh38]
Chr8:143960626 [GRCh37]
Chr8:8q24.3		 benign
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_000497.4(CYP11B1):c.1200+1del deletion Deficiency of steroid 11-beta-monooxygenase [RCV001667864] Chr8:142875233 [GRCh38]
Chr8:143956649 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165420]|Glucocorticoid-remediable aldosteronism [RCV001165421]|not provided [RCV002559585] Chr8:142877076 [GRCh38]
Chr8:143958492 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_000497.4(CYP11B1):c.623G>A (p.Arg208Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001667865]|not provided [RCV002539671] Chr8:142876858 [GRCh38]
Chr8:143958274 [GRCh37]
Chr8:8q24.3		 pathogenic|uncertain significance
NM_000497.4(CYP11B1):c.1200+11C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165191]|Glucocorticoid-remediable aldosteronism [RCV001165190]|not provided [RCV003737011] Chr8:142875223 [GRCh38]
Chr8:143956639 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165312]|Glucocorticoid-remediable aldosteronism [RCV001165311] Chr8:142876283 [GRCh38]
Chr8:143957699 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.285G>A (p.Glu95=) single nucleotide variant not provided [RCV000944743] Chr8:142879142 [GRCh38]
Chr8:143960558 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+9del deletion not provided [RCV000981903] Chr8:142876673 [GRCh38]
Chr8:143958089 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.395+7G>A single nucleotide variant not provided [RCV000951437] Chr8:142879025 [GRCh38]
Chr8:143960441 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.228G>A (p.Gly76=) single nucleotide variant not provided [RCV000943961] Chr8:142879586 [GRCh38]
Chr8:143961002 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.435T>C (p.Asn145=) single nucleotide variant not provided [RCV000878756] Chr8:142877183 [GRCh38]
Chr8:143958599 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.391T>C (p.Leu131=) single nucleotide variant not provided [RCV000877034] Chr8:142879036 [GRCh38]
Chr8:143960452 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.395+6C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158702]|Glucocorticoid-remediable aldosteronism [RCV001158703]|not provided [RCV000877600]|not specified [RCV001817042] Chr8:142879026 [GRCh38]
Chr8:143960442 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.954+8C>G single nucleotide variant not provided [RCV000983422] Chr8:142876233 [GRCh38]
Chr8:143957649 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.288C>T (p.Asp96=) single nucleotide variant not provided [RCV000945622] Chr8:142879139 [GRCh38]
Chr8:143960555 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.395+10G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002502925]|not provided [RCV000950947] Chr8:142879022 [GRCh38]
Chr8:143960438 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1488C>A (p.Leu496=) single nucleotide variant not provided [RCV000904921] Chr8:142874397 [GRCh38]
Chr8:143955813 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.63A>G (p.Ala21=) single nucleotide variant not provided [RCV000977124] Chr8:142879751 [GRCh38]
Chr8:143961167 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.596-5C>T single nucleotide variant not provided [RCV000877188] Chr8:142876890 [GRCh38]
Chr8:143958306 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.994C>G (p.Arg332Gly) single nucleotide variant not provided [RCV001071218] Chr8:142875839 [GRCh38]
Chr8:143957255 [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_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000779553]|Glucocorticoid-remediable aldosteronism [RCV001165426] Chr8:142877169 [GRCh38]
Chr8:143958585 [GRCh37]
Chr8:8q24.3		 likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.4(CYP11B1):c.1360C>T (p.Arg454Cys) single nucleotide variant not provided [RCV000800350] Chr8:142874995 [GRCh38]
Chr8:143956411 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.282G>T (p.Pro94=) single nucleotide variant not provided [RCV000894948] Chr8:142879145 [GRCh38]
Chr8:143960561 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002495323]|not provided [RCV000876868] Chr8:142876836 [GRCh38]
Chr8:143958252 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002501333]|not provided [RCV000874770] Chr8:142876250 [GRCh38]
Chr8:143957666 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002488023]|not provided [RCV000945460] Chr8:142879725 [GRCh38]
Chr8:143961141 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002501331]|not provided [RCV000874651] Chr8:142879133 [GRCh38]
Chr8:143960549 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002501336]|not provided [RCV000874906] Chr8:142875845 [GRCh38]
Chr8:143957261 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.800-6G>A single nucleotide variant not provided [RCV000930239] Chr8:142876401 [GRCh38]
Chr8:143957817 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.504C>T (p.Phe168=) single nucleotide variant not provided [RCV000896873] Chr8:142877114 [GRCh38]
Chr8:143958530 [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
NM_000497.4(CYP11B1):c.1417G>C (p.Val473Leu) single nucleotide variant Inborn genetic diseases [RCV003271365] Chr8:142874468 [GRCh38]
Chr8:143955884 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1276del (p.Gln426fs) deletion not provided [RCV000821868] Chr8:142875079 [GRCh38]
Chr8:143956495 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002501307]|not provided [RCV000871336] Chr8:142877057 [GRCh38]
Chr8:143958473 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1272C>T (p.Asn424=) single nucleotide variant not provided [RCV000871388] Chr8:142875083 [GRCh38]
Chr8:143956499 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1266C>G (p.Arg422=) single nucleotide variant not provided [RCV000871389] Chr8:142875089 [GRCh38]
Chr8:143956505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu) single nucleotide variant Congenital adrenal hyperplasia [RCV003226412]|not provided [RCV000991869] Chr8:142877142 [GRCh38]
Chr8:143958558 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance
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
NC_000008.11:g.(?_142875702)_(142912895_?)del deletion not provided [RCV000802588] Chr8:142875702..142912895 [GRCh38]
Chr8:143957118..143994311 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.96del (p.Arg33fs) deletion not provided [RCV000991871] Chr8:142879718 [GRCh38]
Chr8:143961134 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.*390A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165079]|Glucocorticoid-remediable aldosteronism [RCV001165080] Chr8:142873983 [GRCh38]
Chr8:143955399 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.800-7C>T single nucleotide variant not provided [RCV000875918] Chr8:142876402 [GRCh38]
Chr8:143957818 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1077C>A (p.Thr359=) single nucleotide variant not provided [RCV000979492] Chr8:142875756 [GRCh38]
Chr8:143957172 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002507532]|not provided [RCV000875264] Chr8:142877159 [GRCh38]
Chr8:143958575 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.747C>T (p.Ser249=) single nucleotide variant not provided [RCV000981569] Chr8:142876734 [GRCh38]
Chr8:143958150 [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
NM_000497.4(CYP11B1):c.*1550C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001164738]|Glucocorticoid-remediable aldosteronism [RCV001164739] Chr8:142872823 [GRCh38]
Chr8:143954239 [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(chr8:143956846-143994131)x1 copy number loss not provided [RCV000846740] Chr8:143956846..143994131 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:143786100-143964656)x3 copy number gain not provided [RCV000849655] Chr8:143786100..143964656 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA indel not provided [RCV000991867]|not specified [RCV003235441] Chr8:142879204..142879205 [GRCh38]
Chr8:143960620..143960621 [GRCh37]
Chr8:8q24.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [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_000497.4(CYP11B1):c.369T>C (p.Arg123=) single nucleotide variant not provided [RCV000936782] Chr8:142879058 [GRCh38]
Chr8:143960474 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001163731]|Glucocorticoid-remediable aldosteronism [RCV001158809]|not provided [RCV004695008] Chr8:142879707 [GRCh38]
Chr8:143961123 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161920]|Glucocorticoid-remediable aldosteronism [RCV001163438] Chr8:142879183 [GRCh38]
Chr8:143960599 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.*1623G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001162681]|Glucocorticoid-remediable aldosteronism [RCV001162680] Chr8:142872750 [GRCh38]
Chr8:143954166 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 copy number gain not provided [RCV001006153] Chr8:143728492..144093928 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1296A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001162782]|Glucocorticoid-remediable aldosteronism [RCV001162781] Chr8:142873077 [GRCh38]
Chr8:143954493 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.465G>C (p.Gln155His) single nucleotide variant not provided [RCV000991868] Chr8:142877153 [GRCh38]
Chr8:143958569 [GRCh37]
Chr8:8q24.3		 uncertain significance
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
NM_000497.4(CYP11B1):c.546_552del (p.Ser183fs) deletion not provided [RCV001223180] Chr8:142877066..142877072 [GRCh38]
Chr8:143958482..143958488 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.348delinsCT (p.Trp116fs) indel not provided [RCV001246330] Chr8:142879079 [GRCh38]
Chr8:143960495 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr) single nucleotide variant Glucocorticoid-remediable aldosteronism [RCV001199201]|not provided [RCV003688924] Chr8:142876715 [GRCh38]
Chr8:143958131 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1399-14G>A single nucleotide variant Glucocorticoid-remediable aldosteronism [RCV001197785] Chr8:142874500 [GRCh38]
Chr8:143955916 [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_000497.4(CYP11B1):c.*596C>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161466]|Glucocorticoid-remediable aldosteronism [RCV001161465] Chr8:142873777 [GRCh38]
Chr8:143955193 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*193A>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161582]|Glucocorticoid-remediable aldosteronism [RCV001161581] Chr8:142874180 [GRCh38]
Chr8:143955596 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.*317T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158370]|Glucocorticoid-remediable aldosteronism [RCV001158369] Chr8:142874056 [GRCh38]
Chr8:143955472 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.800-45C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001658357]|not provided [RCV001636216] Chr8:142876440 [GRCh38]
Chr8:143957856 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.335G>T (p.Ser112Ile) single nucleotide variant Inborn genetic diseases [RCV003274392] Chr8:142879092 [GRCh38]
Chr8:143960508 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1122-48A>G single nucleotide variant not provided [RCV001660750] Chr8:142875360 [GRCh38]
Chr8:143956776 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.396-42C>T single nucleotide variant not provided [RCV001597831] Chr8:142877264 [GRCh38]
Chr8:143958680 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1122-197A>G single nucleotide variant not provided [RCV001709812] Chr8:142875509 [GRCh38]
Chr8:142875509..142875510 [GRCh38]
Chr8:143956925 [GRCh37]
Chr8:143956925..143956926 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1122-126C>T single nucleotide variant not provided [RCV001685706] Chr8:142875438 [GRCh38]
Chr8:143956854 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1201-1G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001667863] Chr8:142875155 [GRCh38]
Chr8:143956571 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.186G>A (p.Glu62=) single nucleotide variant not provided [RCV000907242] Chr8:142879628 [GRCh38]
Chr8:143961044 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.622C>A (p.Arg208=) single nucleotide variant not provided [RCV000905248] Chr8:142876859 [GRCh38]
Chr8:143958275 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.846C>T (p.Arg282=) single nucleotide variant not provided [RCV000932613] Chr8:142876349 [GRCh38]
Chr8:143957765 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-10C>A single nucleotide variant not provided [RCV000980885] Chr8:142875164 [GRCh38]
Chr8:143956580 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002487923]|not provided [RCV000875265]|not specified [RCV001644852] Chr8:142877162 [GRCh38]
Chr8:143958578 [GRCh37]
Chr8:8q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000497.4(CYP11B1):c.1122G>A (p.Arg374=) single nucleotide variant not provided [RCV000873627] Chr8:142875312 [GRCh38]
Chr8:143956728 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.239+20T>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001250133]|not provided [RCV001675986] Chr8:142879555 [GRCh38]
Chr8:143960971 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161917]|Glucocorticoid-remediable aldosteronism [RCV001161916] Chr8:142879093 [GRCh38]
Chr8:143960509 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1511C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001159825]|Glucocorticoid-remediable aldosteronism [RCV001159824] Chr8:142872862 [GRCh38]
Chr8:143954278 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*614C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001160057]|Glucocorticoid-remediable aldosteronism [RCV001160056] Chr8:142873759 [GRCh38]
Chr8:143955175 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002291733]|not provided [RCV001210277] Chr8:142875821 [GRCh38]
Chr8:143957237 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002502738]|not provided [RCV000911629] Chr8:142875795 [GRCh38]
Chr8:143957211 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1020G>C (p.Leu340=) single nucleotide variant not provided [RCV000934840] Chr8:142875813 [GRCh38]
Chr8:143957229 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002251185] Chr8:142876282 [GRCh38]
Chr8:143957698 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1214del (p.Val405fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV002251187] Chr8:142875141 [GRCh38]
Chr8:143956557 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.798C>T (p.Tyr266=) single nucleotide variant not provided [RCV001665493] Chr8:142876683 [GRCh38]
Chr8:143958099 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1122-80T>G single nucleotide variant not provided [RCV001656274] Chr8:142875392 [GRCh38]
Chr8:143956808 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1122-75C>G single nucleotide variant not provided [RCV001720624] Chr8:142875387 [GRCh38]
Chr8:143956803 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.800-75T>G single nucleotide variant not provided [RCV001639539] Chr8:142876470 [GRCh38]
Chr8:143957886 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1121+49G>A single nucleotide variant not provided [RCV001641726] Chr8:142875663 [GRCh38]
Chr8:143957079 [GRCh37]
Chr8:8q24.3		 benign
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
NM_000497.4(CYP11B1):c.*244C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161579]|Glucocorticoid-remediable aldosteronism [RCV001161580] Chr8:142874129 [GRCh38]
Chr8:143955545 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161806]|Glucocorticoid-remediable aldosteronism [RCV001161805] Chr8:142876745 [GRCh38]
Chr8:143958161 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_000497.4(CYP11B1):c.*1264A>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001162784]|Glucocorticoid-remediable aldosteronism [RCV001162783] Chr8:142873109 [GRCh38]
Chr8:143954525 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001163212]|Glucocorticoid-remediable aldosteronism [RCV001163211] Chr8:142875876 [GRCh38]
Chr8:143957292 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001163729]|Glucocorticoid-remediable aldosteronism [RCV001163730] Chr8:142879608 [GRCh38]
Chr8:143961024 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158583]|Glucocorticoid-remediable aldosteronism [RCV001158582] Chr8:142876393 [GRCh38]
Chr8:143957809 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158584]|Glucocorticoid-remediable aldosteronism [RCV001158585] Chr8:142876735 [GRCh38]
Chr8:143958151 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1929A>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161123]|Glucocorticoid-remediable aldosteronism [RCV001161122] Chr8:142872444 [GRCh38]
Chr8:143953860 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1476G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161230]|Glucocorticoid-remediable aldosteronism [RCV001161229] Chr8:142872897 [GRCh38]
Chr8:143954313 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*516A>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161467]|Glucocorticoid-remediable aldosteronism [RCV001161468] Chr8:142873857 [GRCh38]
Chr8:143955273 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1979G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001159724]|Glucocorticoid-remediable aldosteronism [RCV001159723] Chr8:142872394 [GRCh38]
Chr8:143953810 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1944G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161121]|Glucocorticoid-remediable aldosteronism [RCV001161120] Chr8:142872429 [GRCh38]
Chr8:143953845 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) single nucleotide variant Congenital adrenal hyperplasia [RCV002282447]|Deficiency of steroid 11-beta-monooxygenase [RCV002497451]|Deficiency of steroid 11-beta-monooxygenase [RCV004570261]|not provided [RCV001063066] Chr8:142874997 [GRCh38]
Chr8:143956413 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.955-62G>T single nucleotide variant not provided [RCV001667436] Chr8:142875940 [GRCh38]
Chr8:143957356 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1121+163T>C single nucleotide variant not provided [RCV001710790] Chr8:142875549 [GRCh38]
Chr8:143956965 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001535982] Chr8:142876305 [GRCh38]
Chr8:143957721 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.799+140C>T single nucleotide variant not provided [RCV001694924] Chr8:142876542 [GRCh38]
Chr8:142876542..142876543 [GRCh38]
Chr8:143957958 [GRCh37]
Chr8:143957958..143957959 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.*1313C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001162780]|Glucocorticoid-remediable aldosteronism [RCV001162779] Chr8:142873060 [GRCh38]
Chr8:143954476 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001163111]|Glucocorticoid-remediable aldosteronism [RCV001163110]|not provided [RCV001408631]|not specified [RCV003155365] Chr8:142874420 [GRCh38]
Chr8:143955836 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.595+14G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001163321]|Glucocorticoid-remediable aldosteronism [RCV001163322]|not provided [RCV003574853] Chr8:142877009 [GRCh38]
Chr8:143958425 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.799+119T>G single nucleotide variant not provided [RCV001679566] Chr8:142876563 [GRCh38]
Chr8:143957979 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161919]|Glucocorticoid-remediable aldosteronism [RCV001161918] Chr8:142879164 [GRCh38]
Chr8:143960580 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.596-41C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001250134]|not provided [RCV001655702] Chr8:142876926 [GRCh38]
Chr8:143958342 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003469377]|not provided [RCV001219956] Chr8:142875298 [GRCh38]
Chr8:143956714 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001163727]|Glucocorticoid-remediable aldosteronism [RCV001163728] Chr8:142879596 [GRCh38]
Chr8:143961012 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165424]|Glucocorticoid-remediable aldosteronism [RCV001165425]|not provided [RCV001405078] Chr8:142877168 [GRCh38]
Chr8:143958584 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.982_994del (p.Phe328fs) deletion not provided [RCV001210763] Chr8:142875839..142875851 [GRCh38]
Chr8:143957255..143957267 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.*345C>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158368]|Glucocorticoid-remediable aldosteronism [RCV001158367] Chr8:142874028 [GRCh38]
Chr8:143955444 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1253G>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001164851]|Glucocorticoid-remediable aldosteronism [RCV001164850] Chr8:142873120 [GRCh38]
Chr8:143954536 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165422]|Deficiency of steroid 11-beta-monooxygenase [RCV002483922]|Glucocorticoid-remediable aldosteronism [RCV001165423] Chr8:142877077 [GRCh38]
Chr8:143958493 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*1012A>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161343]|Glucocorticoid-remediable aldosteronism [RCV001161344] Chr8:142873361 [GRCh38]
Chr8:143954777 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*946G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161346]|Glucocorticoid-remediable aldosteronism [RCV001161345] Chr8:142873427 [GRCh38]
Chr8:143954843 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.*607C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161463]|Glucocorticoid-remediable aldosteronism [RCV001161464] Chr8:142873766 [GRCh38]
Chr8:143955182 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161807]|Glucocorticoid-remediable aldosteronism [RCV001161808]|Inborn genetic diseases [RCV004032854] Chr8:142876849 [GRCh38]
Chr8:143958265 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.938C>A (p.Ala313Glu) single nucleotide variant Inborn genetic diseases [RCV004608400] Chr8:142876257 [GRCh38]
Chr8:143957673 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.11:g.142880001TCC[2] microsatellite not provided [RCV001662982] Chr8:142879999..142880001 [GRCh38]
Chr8:143961415..143961417 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 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_000497.4(CYP11B1):c.850C>T (p.Gln284Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001264085] Chr8:142876345 [GRCh38]
Chr8:143957761 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001264086] Chr8:142876370 [GRCh38]
Chr8:143957786 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001264087] Chr8:142877193 [GRCh38]
Chr8:143958609 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1438del (p.Asp480fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV001290137] Chr8:142874447 [GRCh38]
Chr8:143955863 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001332501]|Glucocorticoid-remediable aldosteronism [RCV003989685] Chr8:142875012 [GRCh38]
Chr8:143956428 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.596-8C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002493949]|not provided [RCV001397543] Chr8:142876893 [GRCh38]
Chr8:143958309 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) single nucleotide variant CYP11B1-related disorder [RCV004751955]|Deficiency of steroid 11-beta-monooxygenase [RCV001290136]|not provided [RCV002541804] Chr8:142876249 [GRCh38]
Chr8:143957665 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV002250741]|not provided [RCV001269700] Chr8:142875023..142875030 [GRCh38]
Chr8:143956439..143956446 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002499904]|not provided [RCV001421231] Chr8:142874445 [GRCh38]
Chr8:143955861 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.810T>C (p.Cys270=) single nucleotide variant not provided [RCV001412779] Chr8:142876385 [GRCh38]
Chr8:143957801 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002493832]|not provided [RCV001358047] Chr8:142879785 [GRCh38]
Chr8:143961201 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.199del (p.Glu67fs) deletion Congenital adrenal hyperplasia [RCV003331773] Chr8:142879615 [GRCh38]
Chr8:143961031 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.954+9G>A single nucleotide variant not provided [RCV001481340] Chr8:142876232 [GRCh38]
Chr8:143957648 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.900G>A (p.Ser300=) single nucleotide variant not provided [RCV001454634] Chr8:142876295 [GRCh38]
Chr8:143957711 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1089C>G (p.Pro363=) single nucleotide variant not provided [RCV001416748] Chr8:142875744 [GRCh38]
Chr8:143957160 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.201A>G (p.Glu67=) single nucleotide variant not provided [RCV001492485] Chr8:142879613 [GRCh38]
Chr8:143961029 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.954+8C>T single nucleotide variant not provided [RCV001405039] Chr8:142876233 [GRCh38]
Chr8:143957649 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.595+7G>A single nucleotide variant not provided [RCV001399538] Chr8:142877016 [GRCh38]
Chr8:143958432 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.132T>A (p.Arg44=) single nucleotide variant not provided [RCV001479840] Chr8:142879682 [GRCh38]
Chr8:143961098 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1404G>A (p.Leu468=) single nucleotide variant not provided [RCV001441709] Chr8:142874481 [GRCh38]
Chr8:143955897 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) deletion Congenital adrenal hyperplasia [RCV001806163]|Deficiency of steroid 11-beta-monooxygenase [RCV002476727]|not provided [RCV001385193] Chr8:142876755 [GRCh38]
Chr8:143958171 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.73G>A (p.Gly25Ser) single nucleotide variant not provided [RCV001488844] Chr8:142879741 [GRCh38]
Chr8:143961157 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.867C>T (p.Ile289=) single nucleotide variant not provided [RCV001428743] Chr8:142876328 [GRCh38]
Chr8:143957744 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.678C>T (p.Ala226=) single nucleotide variant not provided [RCV001480212] Chr8:142876803 [GRCh38]
Chr8:143958219 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.291G>C (p.Val97=) single nucleotide variant not provided [RCV001466662] Chr8:142879136 [GRCh38]
Chr8:143960552 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:143958418-143996344) copy number loss Corticosterone 18-monooxygenase deficiency [RCV001536131] Chr8:143958418..143996344 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1215G>T (p.Val405=) single nucleotide variant not provided [RCV001504293] Chr8:142875140 [GRCh38]
Chr8:143956556 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.507C>G (p.Ser169=) single nucleotide variant not provided [RCV001466916] Chr8:142877111 [GRCh38]
Chr8:143958527 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1500A>G (p.Arg500=) single nucleotide variant not provided [RCV001491752] Chr8:142874385 [GRCh38]
Chr8:143955801 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002495673]|not provided [RCV001463995] Chr8:142879657 [GRCh38]
Chr8:143961073 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.456C>T (p.Asn152=) single nucleotide variant not provided [RCV001481557] Chr8:142877162 [GRCh38]
Chr8:143958578 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.555C>T (p.Thr185=) single nucleotide variant not provided [RCV001514419] Chr8:142877063 [GRCh38]
Chr8:143958479 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1005C>T (p.Asn335=) single nucleotide variant not provided [RCV001467570] Chr8:142875828 [GRCh38]
Chr8:143957244 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002488279]|not provided [RCV001477677] Chr8:142879592 [GRCh38]
Chr8:143961008 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.48G>T (p.Leu16=) single nucleotide variant not provided [RCV001402225] Chr8:142879766 [GRCh38]
Chr8:143961182 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.267G>A (p.Val89=) single nucleotide variant not provided [RCV001439500] Chr8:142879160 [GRCh38]
Chr8:143960576 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.48G>C (p.Leu16=) single nucleotide variant not provided [RCV001404499] Chr8:142879766 [GRCh38]
Chr8:143961182 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.477G>C (p.Pro159=) single nucleotide variant not provided [RCV001430466] Chr8:142877141 [GRCh38]
Chr8:143958557 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1296G>A (p.Arg432=) single nucleotide variant not provided [RCV001397964] Chr8:142875059 [GRCh38]
Chr8:143956475 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.138C>T (p.Gly46=) single nucleotide variant not provided [RCV001441225] Chr8:142879676 [GRCh38]
Chr8:143961092 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.395+9C>G single nucleotide variant not provided [RCV001430647] Chr8:142879023 [GRCh38]
Chr8:143960439 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1116C>A (p.Thr372=) single nucleotide variant not provided [RCV001439017] Chr8:142875717 [GRCh38]
Chr8:143957133 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1245C>G (p.Ala415=) single nucleotide variant not provided [RCV001431112] Chr8:142875110 [GRCh38]
Chr8:143956526 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.642_643del (p.His214fs) microsatellite Deficiency of steroid 11-beta-monooxygenase [RCV003463035]|not provided [RCV001390097] Chr8:142876838..142876839 [GRCh38]
Chr8:143958254..143958255 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.240-7C>T single nucleotide variant not provided [RCV001447181] Chr8:142879194 [GRCh38]
Chr8:143960610 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+1G>A single nucleotide variant not provided [RCV001379349] Chr8:142876681 [GRCh38]
Chr8:143958097 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.78G>A (p.Thr26=) single nucleotide variant not provided [RCV001444842] Chr8:142879736 [GRCh38]
Chr8:143961152 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1204T>C (p.Leu402=) single nucleotide variant not provided [RCV001417767] Chr8:142875151 [GRCh38]
Chr8:143956567 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.396-10G>C single nucleotide variant not provided [RCV001444896] Chr8:142877232 [GRCh38]
Chr8:143958648 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002495626]|not provided [RCV001445243] Chr8:142879157 [GRCh38]
Chr8:143960573 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1212C>G (p.Arg404=) single nucleotide variant not provided [RCV001411079] Chr8:142875143 [GRCh38]
Chr8:143956559 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.441A>G (p.Glu147=) single nucleotide variant not provided [RCV001431817] Chr8:142877177 [GRCh38]
Chr8:143958593 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1008G>C (p.Val336=) single nucleotide variant not provided [RCV001429638] Chr8:142875825 [GRCh38]
Chr8:143957241 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.726G>A (p.Arg242=) single nucleotide variant not provided [RCV001429667] Chr8:142876755 [GRCh38]
Chr8:143958171 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.99G>A (p.Arg33=) single nucleotide variant not provided [RCV001411473] Chr8:142879715 [GRCh38]
Chr8:143961131 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1308G>A (p.Arg436=) single nucleotide variant not provided [RCV001445714] Chr8:142875047 [GRCh38]
Chr8:143956463 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.970C>T (p.Leu324=) single nucleotide variant not provided [RCV001393846] Chr8:142875863 [GRCh38]
Chr8:143957279 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1200+1G>A single nucleotide variant not provided [RCV001384468] Chr8:142875233 [GRCh38]
Chr8:143956649 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1209G>A (p.Val403=) single nucleotide variant not provided [RCV001439243] Chr8:142875146 [GRCh38]
Chr8:143956562 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1080C>G (p.Thr360=) single nucleotide variant not provided [RCV001468527] Chr8:142875753 [GRCh38]
Chr8:143957169 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.450G>T (p.Ser150=) single nucleotide variant not provided [RCV001490501] Chr8:142877168 [GRCh38]
Chr8:143958584 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+126C>G single nucleotide variant not provided [RCV001670592] Chr8:142874831 [GRCh38]
Chr8:143956247 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1269T>C (p.Tyr423=) single nucleotide variant not provided [RCV001468809] Chr8:142875086 [GRCh38]
Chr8:143956502 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.453C>T (p.Pro151=) single nucleotide variant not provided [RCV001490601] Chr8:142877165 [GRCh38]
Chr8:143958581 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+8G>A single nucleotide variant not provided [RCV001474115] Chr8:142874949 [GRCh38]
Chr8:143956365 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1422G>A (p.Glu474=) single nucleotide variant not provided [RCV001451332] Chr8:142874463 [GRCh38]
Chr8:143955879 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.93C>A (p.Val31=) single nucleotide variant not provided [RCV001496477] Chr8:142879721 [GRCh38]
Chr8:143961137 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1041C>T (p.Ala347=) single nucleotide variant not provided [RCV001479577] Chr8:142875792 [GRCh38]
Chr8:143957208 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.955-111T>G single nucleotide variant not provided [RCV001643887] Chr8:142875989 [GRCh38]
Chr8:143957405 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.1047C>G (p.Ala349=) single nucleotide variant not provided [RCV001452420] Chr8:142875786 [GRCh38]
Chr8:143957202 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002502010]|not provided [RCV001665494] Chr8:142876296 [GRCh38]
Chr8:143957712 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1107C>T (p.Leu369=) single nucleotide variant not provided [RCV001483630] Chr8:142875726 [GRCh38]
Chr8:143957142 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1128C>T (p.Tyr376=) single nucleotide variant not provided [RCV001459416] Chr8:142875306 [GRCh38]
Chr8:143956722 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.948G>C (p.Val316=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002488284]|not provided [RCV001480482] Chr8:142876247 [GRCh38]
Chr8:143957663 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1255A>C (p.Arg419=) single nucleotide variant not provided [RCV001471032] Chr8:142875100 [GRCh38]
Chr8:143956516 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.204A>G (p.Val68=) single nucleotide variant not provided [RCV001463797] Chr8:142879610 [GRCh38]
Chr8:143961026 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.955-7C>T single nucleotide variant not provided [RCV001453435] Chr8:142875885 [GRCh38]
Chr8:143957301 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1395C>T (p.His465=) single nucleotide variant not provided [RCV001460890] Chr8:142874960 [GRCh38]
Chr8:143956376 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.351G>A (p.Val117=) single nucleotide variant not provided [RCV001478647] Chr8:142879076 [GRCh38]
Chr8:143960492 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.954+1G>A single nucleotide variant not provided [RCV001386865] Chr8:142876240 [GRCh38]
Chr8:143957656 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter) single nucleotide variant Congenital adrenal hyperplasia [RCV001779162]|Deficiency of steroid 11-beta-monooxygenase [RCV003469726]|not provided [RCV001386866] Chr8:142877197 [GRCh38]
Chr8:143958613 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1239C>T (p.Asn413=) single nucleotide variant not provided [RCV001473273] Chr8:142875116 [GRCh38]
Chr8:143956532 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002488218]|not provided [RCV001403255] Chr8:142875128 [GRCh38]
Chr8:143956544 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.84C>T (p.Ala28=) single nucleotide variant not provided [RCV001403260] Chr8:142879730 [GRCh38]
Chr8:143961146 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1320C>T (p.His440=) single nucleotide variant not provided [RCV001500064] Chr8:142875035 [GRCh38]
Chr8:143956451 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.246_247delinsTC (p.Asp82_Leu83=) indel not provided [RCV001464735] Chr8:142879180..142879181 [GRCh38]
Chr8:143960596..143960597 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.190C>T (p.Leu64=) single nucleotide variant not provided [RCV001438078] Chr8:142879624 [GRCh38]
Chr8:143961040 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1168T>C (p.Leu390=) single nucleotide variant not provided [RCV001481620] Chr8:142875266 [GRCh38]
Chr8:143956682 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.483G>C (p.Val161=) single nucleotide variant not provided [RCV001485951] Chr8:142877135 [GRCh38]
Chr8:143958551 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1402C>T (p.Leu468=) single nucleotide variant not provided [RCV001496042] Chr8:142874483 [GRCh38]
Chr8:143955899 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.414C>T (p.Arg138=) single nucleotide variant not provided [RCV001460611] Chr8:142877204 [GRCh38]
Chr8:143958620 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1218C>T (p.Phe406=) single nucleotide variant not provided [RCV001474321] Chr8:142875137 [GRCh38]
Chr8:143956553 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1158G>A (p.Ala386=) single nucleotide variant not provided [RCV001510347] Chr8:142875276 [GRCh38]
Chr8:143956692 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.595+8C>A single nucleotide variant not provided [RCV001451628] Chr8:142877015 [GRCh38]
Chr8:143958431 [GRCh37]
Chr8:8q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_000497.4(CYP11B1):c.240-5del deletion not provided [RCV001467594] Chr8:142879192 [GRCh38]
Chr8:143960608 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.891G>C (p.Ala297=) single nucleotide variant not provided [RCV001415503] Chr8:142876304 [GRCh38]
Chr8:143957720 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.9C>T (p.Leu3=) single nucleotide variant not provided [RCV001463108] Chr8:142879805 [GRCh38]
Chr8:143961221 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.546G>A (p.Gly182=) single nucleotide variant not provided [RCV001505213] Chr8:142877072 [GRCh38]
Chr8:143958488 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1494C>T (p.Thr498=) single nucleotide variant not provided [RCV001503680] Chr8:142874391 [GRCh38]
Chr8:143955807 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.596-4G>A single nucleotide variant not provided [RCV001436347] Chr8:142876889 [GRCh38]
Chr8:143958305 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.396-6C>T single nucleotide variant not provided [RCV001425460] Chr8:142877228 [GRCh38]
Chr8:143958644 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.395+10G>C single nucleotide variant not provided [RCV001461509] Chr8:142879022 [GRCh38]
Chr8:143960438 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.837C>T (p.Ala279=) single nucleotide variant not provided [RCV001452116] Chr8:142876358 [GRCh38]
Chr8:143957774 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002488232]|not provided [RCV001416128] Chr8:142877081 [GRCh38]
Chr8:143958497 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1080C>T (p.Thr360=) single nucleotide variant not provided [RCV001483798] Chr8:142875753 [GRCh38]
Chr8:143957169 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.474C>T (p.Leu158=) single nucleotide variant not provided [RCV001430518] Chr8:142877144 [GRCh38]
Chr8:143958560 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1425A>G (p.Thr475=) single nucleotide variant not provided [RCV001424100] Chr8:142874460 [GRCh38]
Chr8:143955876 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002501579]|not provided [RCV001450223] Chr8:142874966 [GRCh38]
Chr8:143956382 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1302C>T (p.Ser434=) single nucleotide variant not provided [RCV001499724] Chr8:142875053 [GRCh38]
Chr8:143956469 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.282G>A (p.Pro94=) single nucleotide variant not provided [RCV001435811] Chr8:142879145 [GRCh38]
Chr8:143960561 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.966C>T (p.Pro322=) single nucleotide variant not provided [RCV001482600] Chr8:142875867 [GRCh38]
Chr8:143957283 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser) single nucleotide variant Glucocorticoid-remediable aldosteronism [RCV002249852]|not provided [RCV003094023] Chr8:142876682 [GRCh38]
Chr8:143958098 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) duplication Congenital adrenal hyperplasia [RCV002240087]|Deficiency of steroid 11-beta-monooxygenase [RCV002496178]|Deficiency of steroid 11-beta-monooxygenase [RCV003471296] Chr8:142874995..142874996 [GRCh38]
Chr8:143956411..143956412 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.622C>T (p.Arg208Trp) single nucleotide variant Inborn genetic diseases [RCV004040198]|not provided [RCV001756984] Chr8:142876859 [GRCh38]
Chr8:143958275 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1375G>A (p.Glu459Lys) single nucleotide variant not provided [RCV001797535] Chr8:142874980 [GRCh38]
Chr8:143956396 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002478062]|not specified [RCV001817652] Chr8:142877161 [GRCh38]
Chr8:143958577 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.954+31G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001807988] Chr8:142876210 [GRCh38]
Chr8:143957626 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs) insertion Deficiency of steroid 11-beta-monooxygenase [RCV003471199]|not provided [RCV001983015] Chr8:142876341..142876342 [GRCh38]
Chr8:143957757..143957758 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003470993]|not provided [RCV001895798] Chr8:142877169 [GRCh38]
Chr8:143958585 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.520A>T (p.Lys174Ter) single nucleotide variant not provided [RCV001895527] Chr8:142877098 [GRCh38]
Chr8:143958514 [GRCh37]
Chr8:8q24.3		 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
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
NM_000497.4(CYP11B1):c.240-2A>G single nucleotide variant not provided [RCV002021422] Chr8:142879189 [GRCh38]
Chr8:143960605 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.518A>G (p.Lys173Arg) single nucleotide variant not provided [RCV002074403]|not specified [RCV001844509] Chr8:142877100 [GRCh38]
Chr8:143958516 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) duplication Deficiency of steroid 11-beta-monooxygenase [RCV002279773]|not provided [RCV001909041] Chr8:142875253..142875254 [GRCh38]
Chr8:143956669..143956670 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.546dup (p.Ser183fs) duplication not provided [RCV001942319] Chr8:142877071..142877072 [GRCh38]
Chr8:143958487..143958488 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.954+1G>C single nucleotide variant not provided [RCV001942036] Chr8:142876240 [GRCh38]
Chr8:143957656 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.907del (p.Ala303fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV003471159]|not provided [RCV001942054] Chr8:142876288 [GRCh38]
Chr8:143957704 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.954G>C (p.Thr318=) single nucleotide variant not provided [RCV001963560] Chr8:142876241 [GRCh38]
Chr8:143957657 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003471195]|not provided [RCV001959022] Chr8:142875013 [GRCh38]
Chr8:143956429 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.281C>A (p.Pro94Gln) single nucleotide variant not provided [RCV002019554] Chr8:142879146 [GRCh38]
Chr8:143960562 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1151G>T (p.Arg384Leu) single nucleotide variant not provided [RCV002026610] Chr8:142875283 [GRCh38]
Chr8:143956699 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.124C>G (p.Pro42Ala) single nucleotide variant not provided [RCV002033028] Chr8:142879690 [GRCh38]
Chr8:143961106 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.596-2A>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003464351]|not provided [RCV001994155] Chr8:142876887 [GRCh38]
Chr8:143958303 [GRCh37]
Chr8:8q24.3		 pathogenic|likely 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|no classifications from unflagged records
NM_000497.4(CYP11B1):c.348G>C (p.Trp116Cys) single nucleotide variant Congenital adrenal hyperplasia [RCV004770317]|not provided [RCV001956178] Chr8:142879079 [GRCh38]
Chr8:143960495 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.610_611del (p.Leu204fs) microsatellite not provided [RCV001938651] Chr8:142876870..142876871 [GRCh38]
Chr8:143958286..143958287 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_143955779)_(143958311_?)del deletion not provided [RCV002035561] Chr8:143955779..143958311 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.124C>A (p.Pro42Thr) single nucleotide variant not provided [RCV002048247] Chr8:142879690 [GRCh38]
Chr8:143961106 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003471042]|not provided [RCV001918990] Chr8:142876688 [GRCh38]
Chr8:143958104 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1151G>C (p.Arg384Pro) single nucleotide variant not provided [RCV002033582] Chr8:142875283 [GRCh38]
Chr8:143956699 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1215G>C (p.Val405=) single nucleotide variant not provided [RCV002166401] Chr8:142875140 [GRCh38]
Chr8:143956556 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.132T>C (p.Arg44=) single nucleotide variant not provided [RCV002186103] Chr8:142879682 [GRCh38]
Chr8:143961098 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.183T>C (p.Tyr61=) single nucleotide variant not provided [RCV002207139] Chr8:142879631 [GRCh38]
Chr8:143961047 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.239+8C>T single nucleotide variant not provided [RCV002086346] Chr8:142879567 [GRCh38]
Chr8:143960983 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1029G>A (p.Glu343=) single nucleotide variant not provided [RCV002091061] Chr8:142875804 [GRCh38]
Chr8:143957220 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.807C>T (p.Asn269=) single nucleotide variant not provided [RCV002107488] Chr8:142876388 [GRCh38]
Chr8:143957804 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.702C>G (p.Thr234=) single nucleotide variant not provided [RCV002207620] Chr8:142876779 [GRCh38]
Chr8:143958195 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-8G>C single nucleotide variant not provided [RCV002129896] Chr8:142875162 [GRCh38]
Chr8:143956578 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.72G>C (p.Leu24=) single nucleotide variant not provided [RCV002125299] Chr8:142879742 [GRCh38]
Chr8:143961158 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1329T>C (p.Phe443=) single nucleotide variant not provided [RCV002210745] Chr8:142875026 [GRCh38]
Chr8:143956442 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.955-9C>G single nucleotide variant not provided [RCV002170134] Chr8:142875887 [GRCh38]
Chr8:143957303 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.396-9C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002494130]|not provided [RCV002205811] Chr8:142877231 [GRCh38]
Chr8:143958647 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.489A>G (p.Ala163=) single nucleotide variant not provided [RCV002189171] Chr8:142877129 [GRCh38]
Chr8:143958545 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1032C>T (p.Ser344=) single nucleotide variant not provided [RCV002129173] Chr8:142875801 [GRCh38]
Chr8:143957217 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.595+9C>T single nucleotide variant not provided [RCV002206454] Chr8:142877014 [GRCh38]
Chr8:143958430 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002494241]|not provided [RCV002108002] Chr8:142876854 [GRCh38]
Chr8:143958270 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.942G>A (p.Gly314=) single nucleotide variant not provided [RCV002206246] Chr8:142876253 [GRCh38]
Chr8:143957669 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.90G>A (p.Arg30=) single nucleotide variant not provided [RCV002188496] Chr8:142879724 [GRCh38]
Chr8:143961140 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.756G>A (p.Val252=) single nucleotide variant not provided [RCV002111117] Chr8:142876725 [GRCh38]
Chr8:143958141 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-9C>T single nucleotide variant not provided [RCV002109453] Chr8:142875163 [GRCh38]
Chr8:143956579 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.596-10C>T single nucleotide variant not provided [RCV002188953] Chr8:142876895 [GRCh38]
Chr8:143958311 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.339G>A (p.Leu113=) single nucleotide variant not provided [RCV002165325] Chr8:142879088 [GRCh38]
Chr8:143960504 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1104C>A (p.Ala368=) single nucleotide variant not provided [RCV002210211] Chr8:142875729 [GRCh38]
Chr8:143957145 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.477G>A (p.Pro159=) single nucleotide variant not provided [RCV002084806] Chr8:142877141 [GRCh38]
Chr8:143958557 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.867C>A (p.Ile289=) single nucleotide variant not provided [RCV002195032] Chr8:142876328 [GRCh38]
Chr8:143957744 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.546G>T (p.Gly182=) single nucleotide variant not provided [RCV002133942] Chr8:142877072 [GRCh38]
Chr8:143958488 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.239+7C>T single nucleotide variant not provided [RCV002078253] Chr8:142879568 [GRCh38]
Chr8:143960984 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.54G>A (p.Leu18=) single nucleotide variant not provided [RCV002115277] Chr8:142879760 [GRCh38]
Chr8:143961176 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.438A>C (p.Pro146=) single nucleotide variant not provided [RCV002087116] Chr8:142877180 [GRCh38]
Chr8:143958596 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+9G>A single nucleotide variant not provided [RCV002192132] Chr8:142874948 [GRCh38]
Chr8:143956364 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.730C>T (p.Leu244=) single nucleotide variant not provided [RCV002215114] Chr8:142876751 [GRCh38]
Chr8:143958167 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.672C>T (p.Leu224=) single nucleotide variant not provided [RCV002078853] Chr8:142876809 [GRCh38]
Chr8:143958225 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-6C>T single nucleotide variant not provided [RCV002078039] Chr8:142875160 [GRCh38]
Chr8:143956576 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.921C>T (p.Asn307=) single nucleotide variant not provided [RCV002097670] Chr8:142876274 [GRCh38]
Chr8:143957690 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1017C>A (p.Ala339=) single nucleotide variant not provided [RCV002214582] Chr8:142875816 [GRCh38]
Chr8:143957232 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1065C>G (p.Pro355=) single nucleotide variant not provided [RCV002195616] Chr8:142875768 [GRCh38]
Chr8:143957184 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1242C>T (p.Pro414=) single nucleotide variant not provided [RCV002215891] Chr8:142875113 [GRCh38]
Chr8:143956529 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.102A>G (p.Thr34=) single nucleotide variant not provided [RCV002192926] Chr8:142879712 [GRCh38]
Chr8:143961128 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.870G>A (p.Val290=) single nucleotide variant not provided [RCV002195521] Chr8:142876325 [GRCh38]
Chr8:143957741 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.24G>A (p.Glu8=) single nucleotide variant not provided [RCV002116395] Chr8:142879790 [GRCh38]
Chr8:143961206 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1254G>A (p.Pro418=) single nucleotide variant not provided [RCV002114188] Chr8:142875101 [GRCh38]
Chr8:143956517 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-4G>A single nucleotide variant not provided [RCV002094993] Chr8:142875158 [GRCh38]
Chr8:143956574 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1122-7C>T single nucleotide variant not provided [RCV002193888] Chr8:142875319 [GRCh38]
Chr8:143956735 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.800-6G>T single nucleotide variant not provided [RCV002132925] Chr8:142876401 [GRCh38]
Chr8:143957817 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.108G>T (p.Leu36=) single nucleotide variant not provided [RCV002150871] Chr8:142879706 [GRCh38]
Chr8:143961122 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.880C>T (p.Leu294=) single nucleotide variant not provided [RCV002159679] Chr8:142876315 [GRCh38]
Chr8:143957731 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.954+8C>A single nucleotide variant not provided [RCV002137386] Chr8:142876233 [GRCh38]
Chr8:143957649 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.955-13GT[4] microsatellite not provided [RCV002139330] Chr8:142875887..142875888 [GRCh38]
Chr8:143957303..143957304 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.93C>T (p.Val31=) single nucleotide variant not provided [RCV002181608] Chr8:142879721 [GRCh38]
Chr8:143961137 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1002C>T (p.Pro334=) single nucleotide variant not provided [RCV002124123] Chr8:142875831 [GRCh38]
Chr8:143957247 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.603C>T (p.Asn201=) single nucleotide variant not provided [RCV002217948] Chr8:142876878 [GRCh38]
Chr8:143958294 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.93C>G (p.Val31=) single nucleotide variant not provided [RCV002204849] Chr8:142879721 [GRCh38]
Chr8:143961137 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.729C>T (p.Ser243=) single nucleotide variant not provided [RCV002184468] Chr8:142876752 [GRCh38]
Chr8:143958168 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1086G>T (p.Leu362=) single nucleotide variant not provided [RCV002156064] Chr8:142875747 [GRCh38]
Chr8:143957163 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.861C>T (p.Thr287=) single nucleotide variant not provided [RCV002163560] Chr8:142876334 [GRCh38]
Chr8:143957750 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-10G>C single nucleotide variant not provided [RCV002119943] Chr8:142879197 [GRCh38]
Chr8:143960613 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.528G>T (p.Val176=) single nucleotide variant not provided [RCV002175980] Chr8:142877090 [GRCh38]
Chr8:143958506 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.883T>C (p.Leu295=) single nucleotide variant not provided [RCV002122080] Chr8:142876312 [GRCh38]
Chr8:143957728 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.588C>T (p.Thr196=) single nucleotide variant not provided [RCV002176267] Chr8:142877030 [GRCh38]
Chr8:143958446 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.395+8G>T single nucleotide variant not provided [RCV002160923] Chr8:142879024 [GRCh38]
Chr8:143960440 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1385del (p.Leu462fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV002251276] Chr8:142874970 [GRCh38]
Chr8:143956386 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.240-4A>T single nucleotide variant not provided [RCV002176751] Chr8:142879191 [GRCh38]
Chr8:143960607 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1263G>A (p.Glu421=) single nucleotide variant not provided [RCV002139041] Chr8:142875092 [GRCh38]
Chr8:143956508 [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_000497.4(CYP11B1):c.1107C>G (p.Leu369=) single nucleotide variant not provided [RCV002118726] Chr8:142875726 [GRCh38]
Chr8:143957142 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.396-8C>A single nucleotide variant not provided [RCV002162404] Chr8:142877230 [GRCh38]
Chr8:143958646 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.660C>T (p.Ser220=) single nucleotide variant not provided [RCV002180353] Chr8:142876821 [GRCh38]
Chr8:143958237 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.774G>A (p.Glu258=) single nucleotide variant not provided [RCV002216449] Chr8:142876707 [GRCh38]
Chr8:143958123 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1053C>T (p.Ile351=) single nucleotide variant not provided [RCV002121719] Chr8:142875780 [GRCh38]
Chr8:143957196 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.39G>T (p.Val13=) single nucleotide variant not provided [RCV002199831] Chr8:142879775 [GRCh38]
Chr8:143961191 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-8C>T single nucleotide variant not provided [RCV002183576] Chr8:142879195 [GRCh38]
Chr8:143960611 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.159G>A (p.Leu53=) single nucleotide variant not provided [RCV002183642] Chr8:142879655 [GRCh38]
Chr8:143961071 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1203A>T (p.Thr401=) single nucleotide variant not provided [RCV002141217] Chr8:142875152 [GRCh38]
Chr8:143956568 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.297G>A (p.Lys99=) single nucleotide variant not provided [RCV002156767] Chr8:142879130 [GRCh38]
Chr8:143960546 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+17G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002494226]|not provided [RCV002122180] Chr8:142876665 [GRCh38]
Chr8:143958081 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_000497.4(CYP11B1):c.291G>A (p.Val97=) single nucleotide variant not provided [RCV002157026] Chr8:142879136 [GRCh38]
Chr8:143960552 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.90G>T (p.Arg30=) single nucleotide variant not provided [RCV002178266] Chr8:142879724 [GRCh38]
Chr8:143961140 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.239+156C>T single nucleotide variant not specified [RCV003123393] Chr8:142879419 [GRCh38]
Chr8:143960835 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.845G>A (p.Arg282His) single nucleotide variant Inborn genetic diseases [RCV004608399] Chr8:142876350 [GRCh38]
Chr8:143957766 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.596-2A>G single nucleotide variant Congenital adrenal hyperplasia [RCV002282830] Chr8:142876887 [GRCh38]
Chr8:143958303 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.954+3C>G single nucleotide variant not specified [RCV003236441] Chr8:142876238 [GRCh38]
Chr8:143957654 [GRCh37]
Chr8:8q24.3		 uncertain significance
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
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del) deletion Deficiency of steroid 11-beta-monooxygenase [RCV002269805] Chr8:142875143..142875145 [GRCh38]
Chr8:143956559..143956561 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.655G>A (p.Ala219Thr) single nucleotide variant Inborn genetic diseases [RCV003281426] Chr8:142876826 [GRCh38]
Chr8:143958242 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1265G>T (p.Arg422Leu) single nucleotide variant Inborn genetic diseases [RCV003259552] Chr8:142875090 [GRCh38]
Chr8:143956506 [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_000497.4(CYP11B1):c.595+1G>C single nucleotide variant Congenital adrenal hyperplasia [RCV003230921] Chr8:142877022 [GRCh38]
Chr8:143958438 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs) insertion Deficiency of steroid 11-beta-monooxygenase [RCV002309422] Chr8:142876729..142876730 [GRCh38]
Chr8:143958145..143958146 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs) indel Deficiency of steroid 11-beta-monooxygenase [RCV002309467] Chr8:142876787..142876788 [GRCh38]
Chr8:143958203..143958204 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.712dup (p.Met238fs) duplication Deficiency of steroid 11-beta-monooxygenase [RCV002306490]|not provided [RCV003565516] Chr8:142876768..142876769 [GRCh38]
Chr8:143958184..143958185 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002306897] Chr8:142877208 [GRCh38]
Chr8:143958624 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV002307203] Chr8:142876817..142876818 [GRCh38]
Chr8:143958233..143958234 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs) duplication Deficiency of steroid 11-beta-monooxygenase [RCV002307082] Chr8:142876247..142876248 [GRCh38]
Chr8:143957663..143957664 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV002309163] Chr8:142876687..142876688 [GRCh38]
Chr8:143958103..143958104 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs) insertion Deficiency of steroid 11-beta-monooxygenase [RCV002309563] Chr8:142876383..142876384 [GRCh38]
Chr8:143957799..143957800 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002310011] Chr8:142876381 [GRCh38]
Chr8:143957797 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV002308096] Chr8:142876787 [GRCh38]
Chr8:143958203 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.937del (p.Ala313fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV002306928] Chr8:142876258 [GRCh38]
Chr8:143957674 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.576C>T (p.Ile192=) single nucleotide variant not provided [RCV003014554] Chr8:142877042 [GRCh38]
Chr8:143958458 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1210C>T (p.Arg404Cys) single nucleotide variant not provided [RCV002727060] Chr8:142875145 [GRCh38]
Chr8:143956561 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1092G>A (p.Leu364=) single nucleotide variant not provided [RCV003012040] Chr8:142875741 [GRCh38]
Chr8:143957157 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.882G>C (p.Leu294=) single nucleotide variant not provided [RCV002881136] Chr8:142876313 [GRCh38]
Chr8:143957729 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1113G>A (p.Glu371=) single nucleotide variant not provided [RCV002858552] Chr8:142875720 [GRCh38]
Chr8:143957136 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.146G>A (p.Trp49Ter) single nucleotide variant not provided [RCV002908920] Chr8:142879668 [GRCh38]
Chr8:143961084 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.789C>T (p.Ile263=) single nucleotide variant not provided [RCV002843066] Chr8:142876692 [GRCh38]
Chr8:143958108 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.452C>T (p.Pro151Leu) single nucleotide variant Inborn genetic diseases [RCV002840329] Chr8:142877166 [GRCh38]
Chr8:143958582 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.804C>T (p.Asp268=) single nucleotide variant not provided [RCV002816190] Chr8:142876391 [GRCh38]
Chr8:143957807 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.330G>A (p.Arg110=) single nucleotide variant not provided [RCV002774979] Chr8:142879097 [GRCh38]
Chr8:143960513 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.895C>T (p.Leu299=) single nucleotide variant not provided [RCV003016695] Chr8:142876300 [GRCh38]
Chr8:143957716 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1362C>A (p.Arg454=) single nucleotide variant not provided [RCV002947979] Chr8:142874993 [GRCh38]
Chr8:143956409 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1191C>T (p.Ile397=) single nucleotide variant not provided [RCV002863863] Chr8:142875243 [GRCh38]
Chr8:143956659 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.852_853inv (p.Gln285Ter) inversion not provided [RCV002863756] Chr8:142876342..142876343 [GRCh38]
Chr8:143957758..143957759 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1243G>A (p.Ala415Thr) single nucleotide variant not provided [RCV002975137] Chr8:142875112 [GRCh38]
Chr8:143956528 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1265G>A (p.Arg422His) single nucleotide variant not provided [RCV002882012] Chr8:142875090 [GRCh38]
Chr8:143956506 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.663G>C (p.Leu221=) single nucleotide variant not provided [RCV002797215] Chr8:142876818 [GRCh38]
Chr8:143958234 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.610C>G (p.Leu204Val) single nucleotide variant not provided [RCV003081724] Chr8:142876871 [GRCh38]
Chr8:143958287 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.395+12_395+13insGAGTTGG insertion not provided [RCV002572119] Chr8:142879019..142879020 [GRCh38]
Chr8:143960435..143960436 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.42C>T (p.Pro14=) single nucleotide variant not provided [RCV003021612] Chr8:142879772 [GRCh38]
Chr8:143961188 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.21A>G (p.Ala7=) single nucleotide variant not provided [RCV003003125] Chr8:142879793 [GRCh38]
Chr8:143961209 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.684G>A (p.Glu228=) single nucleotide variant not provided [RCV002800463] Chr8:142876797 [GRCh38]
Chr8:143958213 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.703G>A (p.Val235Ile) single nucleotide variant not provided [RCV002914174] Chr8:142876778 [GRCh38]
Chr8:143958194 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.596-5del deletion not provided [RCV002979005] Chr8:142876890 [GRCh38]
Chr8:143958306 [GRCh37]
Chr8:8q24.3		 benign
NM_000497.4(CYP11B1):c.256G>C (p.Ala86Pro) single nucleotide variant Inborn genetic diseases [RCV002952085] Chr8:142879171 [GRCh38]
Chr8:143960587 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.396-16G>A single nucleotide variant not provided [RCV002867412] Chr8:142877238 [GRCh38]
Chr8:143958654 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.258A>C (p.Ala86=) single nucleotide variant not provided [RCV003036298] Chr8:142879169 [GRCh38]
Chr8:143960585 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1100C>T (p.Ala367Val) single nucleotide variant Inborn genetic diseases [RCV002912778]|not provided [RCV002912779] Chr8:142875733 [GRCh38]
Chr8:143957149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.559G>A (p.Asp187Asn) single nucleotide variant Inborn genetic diseases [RCV002691825] Chr8:142877059 [GRCh38]
Chr8:143958475 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.777C>T (p.Ala259=) single nucleotide variant not provided [RCV003000149] Chr8:142876704 [GRCh38]
Chr8:143958120 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.825T>A (p.Tyr275Ter) single nucleotide variant not provided [RCV002846500] Chr8:142876370 [GRCh38]
Chr8:143957786 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.706C>T (p.Gln236Ter) single nucleotide variant not provided [RCV003038529] Chr8:142876775 [GRCh38]
Chr8:143958191 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.854A>G (p.Gln285Arg) single nucleotide variant not provided [RCV002952528] Chr8:142876341 [GRCh38]
Chr8:143957757 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1228_1229del (p.Leu410fs) microsatellite not provided [RCV002592077] Chr8:142875126..142875127 [GRCh38]
Chr8:143956542..143956543 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.385G>C (p.Val129Leu) single nucleotide variant Inborn genetic diseases [RCV002927427]|not provided [RCV002927426] Chr8:142879042 [GRCh38]
Chr8:143960458 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1398+7A>C single nucleotide variant not provided [RCV002846672] Chr8:142874950 [GRCh38]
Chr8:143956366 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.844C>T (p.Arg282Cys) single nucleotide variant not provided [RCV002978990] Chr8:142876351 [GRCh38]
Chr8:143957767 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.298C>T (p.Leu100=) single nucleotide variant not provided [RCV002847374] Chr8:142879129 [GRCh38]
Chr8:143960545 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.138C>A (p.Gly46=) single nucleotide variant not provided [RCV002866696] Chr8:142879676 [GRCh38]
Chr8:143961092 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.501C>T (p.Asp167=) single nucleotide variant not provided [RCV002570286] Chr8:142877117 [GRCh38]
Chr8:143958533 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1121+7G>C single nucleotide variant not provided [RCV002918799] Chr8:142875705 [GRCh38]
Chr8:143957121 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.995G>C (p.Arg332Pro) single nucleotide variant not provided [RCV002875592] Chr8:142875838 [GRCh38]
Chr8:143957254 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.4G>A (p.Ala2Thr) single nucleotide variant not provided [RCV002645652] Chr8:142879810 [GRCh38]
Chr8:143961226 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.396-1G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV004572728]|not provided [RCV003058204] Chr8:142877223 [GRCh38]
Chr8:143958639 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.588C>A (p.Thr196=) single nucleotide variant not provided [RCV003026238] Chr8:142877030 [GRCh38]
Chr8:143958446 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.647C>T (p.Pro216Leu) single nucleotide variant Inborn genetic diseases [RCV002790689]|not provided [RCV002790688] Chr8:142876834 [GRCh38]
Chr8:143958250 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.858C>T (p.Tyr286=) single nucleotide variant not provided [RCV002642964] Chr8:142876337 [GRCh38]
Chr8:143957753 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003333809]|Inborn genetic diseases [RCV003004834] Chr8:142875115 [GRCh38]
Chr8:143956531 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.822C>A (p.Ile274=) single nucleotide variant not provided [RCV002890224] Chr8:142876373 [GRCh38]
Chr8:143957789 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.425T>C (p.Leu142Ser) single nucleotide variant Inborn genetic diseases [RCV002917030] Chr8:142877193 [GRCh38]
Chr8:143958609 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1201-19C>T single nucleotide variant not provided [RCV002593480] Chr8:142875173 [GRCh38]
Chr8:143956589 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.675T>C (p.His225=) single nucleotide variant not provided [RCV002825662] Chr8:142876806 [GRCh38]
Chr8:143958222 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1041C>G (p.Ala347=) single nucleotide variant not provided [RCV002595517] Chr8:142875792 [GRCh38]
Chr8:143957208 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1261G>A (p.Glu421Lys) single nucleotide variant Inborn genetic diseases [RCV002803702] Chr8:142875094 [GRCh38]
Chr8:143956510 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1077C>T (p.Thr359=) single nucleotide variant not provided [RCV002917937] Chr8:142875756 [GRCh38]
Chr8:143957172 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.801C>A (p.Gly267=) single nucleotide variant not provided [RCV002875630] Chr8:142876394 [GRCh38]
Chr8:143957810 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1008G>A (p.Val336=) single nucleotide variant not provided [RCV002624956] Chr8:142875825 [GRCh38]
Chr8:143957241 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.270T>A (p.Cys90Ter) single nucleotide variant not provided [RCV003039682] Chr8:142879157 [GRCh38]
Chr8:143960573 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.240-16G>C single nucleotide variant not provided [RCV002914782] Chr8:142879203 [GRCh38]
Chr8:143960619 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.114T>C (p.Phe38=) single nucleotide variant not provided [RCV002871895] Chr8:142879700 [GRCh38]
Chr8:143961116 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.392del (p.Leu131fs) deletion not provided [RCV002596465] Chr8:142879035 [GRCh38]
Chr8:143960451 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1200+8A>T single nucleotide variant not provided [RCV002871742] Chr8:142875226 [GRCh38]
Chr8:143956642 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-8G>A single nucleotide variant not provided [RCV003084430] Chr8:142875162 [GRCh38]
Chr8:143956578 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1293C>T (p.Ile431=) single nucleotide variant not provided [RCV002852188] Chr8:142875062 [GRCh38]
Chr8:143956478 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.318G>A (p.Leu106=) single nucleotide variant not provided [RCV003007439] Chr8:142879109 [GRCh38]
Chr8:143960525 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1303G>A (p.Gly435Ser) single nucleotide variant not provided [RCV002574213] Chr8:142875052 [GRCh38]
Chr8:143956468 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1438G>A (p.Asp480Asn) single nucleotide variant not provided [RCV002953866] Chr8:142874447 [GRCh38]
Chr8:143955863 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1123C>G (p.Leu375Val) single nucleotide variant not provided [RCV002829681] Chr8:142875311 [GRCh38]
Chr8:143956727 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1314C>T (p.Phe438=) single nucleotide variant not provided [RCV002890010] Chr8:142875041 [GRCh38]
Chr8:143956457 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.874G>T (p.Glu292Ter) single nucleotide variant not provided [RCV003030990] Chr8:142876321 [GRCh38]
Chr8:143957737 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.396-3T>C single nucleotide variant not provided [RCV002650946] Chr8:142877225 [GRCh38]
Chr8:143958641 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.106C>T (p.Leu36=) single nucleotide variant not provided [RCV002650541] Chr8:142879708 [GRCh38]
Chr8:143961124 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.994C>T (p.Arg332Trp) single nucleotide variant not provided [RCV002628917] Chr8:142875839 [GRCh38]
Chr8:143957255 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.799+10G>A single nucleotide variant not provided [RCV003010281] Chr8:142876672 [GRCh38]
Chr8:143958088 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.445C>T (p.Leu149=) single nucleotide variant not provided [RCV002598638] Chr8:142877173 [GRCh38]
Chr8:143958589 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.199G>A (p.Glu67Lys) single nucleotide variant Inborn genetic diseases [RCV002792799] Chr8:142879615 [GRCh38]
Chr8:143961031 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1150C>G (p.Arg384Gly) single nucleotide variant not provided [RCV003062182] Chr8:142875284 [GRCh38]
Chr8:143956700 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.858C>A (p.Tyr286Ter) single nucleotide variant not provided [RCV002792084] Chr8:142876337 [GRCh38]
Chr8:143957753 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.125C>G (p.Pro42Arg) single nucleotide variant not provided [RCV003046345] Chr8:142879689 [GRCh38]
Chr8:143961105 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1057G>T (p.Glu353Ter) single nucleotide variant not provided [RCV002857282] Chr8:142875776 [GRCh38]
Chr8:143957192 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1110G>A (p.Lys370=) single nucleotide variant not provided [RCV002856427] Chr8:142875723 [GRCh38]
Chr8:143957139 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1215_1216del (p.Phe406fs) microsatellite not provided [RCV002832922] Chr8:142875139..142875140 [GRCh38]
Chr8:143956555..143956556 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.821del (p.Ile274fs) deletion not provided [RCV002857759] Chr8:142876374 [GRCh38]
Chr8:143957790 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.479TGG[1] (p.Val161del) microsatellite not provided [RCV003062183] Chr8:142877134..142877136 [GRCh38]
Chr8:143958550..143958552 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.207C>G (p.His69Gln) single nucleotide variant CYP11B1-related disorder [RCV004750858]|Inborn genetic diseases [RCV002674790] Chr8:142879607 [GRCh38]
Chr8:143961023 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.801C>G (p.Gly267=) single nucleotide variant not provided [RCV002578873] Chr8:142876394 [GRCh38]
Chr8:143957810 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1234C>T (p.Arg412Cys) single nucleotide variant Inborn genetic diseases [RCV002919791] Chr8:142875121 [GRCh38]
Chr8:143956537 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.428G>T (p.Arg143Leu) single nucleotide variant not provided [RCV002671371]|not specified [RCV004690313] Chr8:142877190 [GRCh38]
Chr8:143958606 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1398+7_1398+13del deletion not provided [RCV003009983] Chr8:142874944..142874950 [GRCh38]
Chr8:143956360..143956366 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.249G>A (p.Leu83=) single nucleotide variant not provided [RCV003010323] Chr8:142879178 [GRCh38]
Chr8:143960594 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1150C>A (p.Arg384=) single nucleotide variant not provided [RCV002634783] Chr8:142875284 [GRCh38]
Chr8:143956700 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.111C>T (p.Pro37=) single nucleotide variant not provided [RCV002654799] Chr8:142879703 [GRCh38]
Chr8:143961119 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1122-10C>T single nucleotide variant not provided [RCV003051948] Chr8:142875322 [GRCh38]
Chr8:143956738 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1121G>C (p.Arg374Pro) single nucleotide variant not provided [RCV002635044] Chr8:142875712 [GRCh38]
Chr8:143957128 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.744C>A (p.Thr248=) single nucleotide variant not provided [RCV002611187] Chr8:142876737 [GRCh38]
Chr8:143958153 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1196C>G (p.Ala399Gly) single nucleotide variant not provided [RCV002589030] Chr8:142875238 [GRCh38]
Chr8:143956654 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.916G>A (p.Ala306Thr) single nucleotide variant not provided [RCV002633988] Chr8:142876279 [GRCh38]
Chr8:143957695 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1236C>A (p.Arg412=) single nucleotide variant not provided [RCV002942266] Chr8:142875119 [GRCh38]
Chr8:143956535 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+7A>T single nucleotide variant not provided [RCV002607010] Chr8:142874950 [GRCh38]
Chr8:143956366 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.396-2A>G single nucleotide variant Congenital adrenal hyperplasia [RCV003155793] Chr8:142877224 [GRCh38]
Chr8:143958640 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1471C>T (p.Pro491Ser) single nucleotide variant not provided [RCV003145972] Chr8:142874414 [GRCh38]
Chr8:143955830 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1148A>G (p.Glu383Gly) single nucleotide variant not provided [RCV003145971] Chr8:142875286 [GRCh38]
Chr8:143956702 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003459903]   uncertain significance
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003459904]   likely pathogenic
NM_000497.4(CYP11B1):c.1361G>C (p.Arg454Pro) single nucleotide variant not specified [RCV003324385] Chr8:142874994 [GRCh38]
Chr8:143956410 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.842G>A (p.Ser281Asn) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003333836] Chr8:142876353 [GRCh38]
Chr8:143957769 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.748C>A (p.Pro250Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003333866] Chr8:142876733 [GRCh38]
Chr8:143958149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(143957812_143958097)_(143961237_?)dup duplication not specified [RCV003331888] Chr8:143958097..143961237 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1399-1G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003468619] Chr8:142874487 [GRCh38]
Chr8:143955903 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV003468623] Chr8:142875753 [GRCh38]
Chr8:143957169 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1064C>T (p.Pro355Leu) single nucleotide variant Inborn genetic diseases [RCV003366023] Chr8:142875769 [GRCh38]
Chr8:143957185 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003459901] Chr8:142876682 [GRCh38]
Chr8:143958098 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003459905]   uncertain significance
NM_000497.4(CYP11B1):c.800-2A>G single nucleotide variant not provided [RCV003569684] Chr8:142876397 [GRCh38]
Chr8:143957813 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu) microsatellite Deficiency of steroid 11-beta-monooxygenase [RCV003468620] Chr8:142874961..142874962 [GRCh38]
Chr8:143956377..143956378 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.360del (p.Arg120fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV003468626] Chr8:142879067 [GRCh38]
Chr8:143960483 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1201-9C>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003468617] Chr8:142875163 [GRCh38]
Chr8:143956579 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.954+1del deletion Deficiency of steroid 11-beta-monooxygenase [RCV003468625] Chr8:142876240 [GRCh38]
Chr8:143957656 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.395+7G>C single nucleotide variant not provided [RCV003570547] Chr8:142879025 [GRCh38]
Chr8:143960441 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+20C>A single nucleotide variant not provided [RCV003570581] Chr8:142876662 [GRCh38]
Chr8:143958078 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1399-23T>G single nucleotide variant not provided [RCV003440710] Chr8:142874509 [GRCh38]
Chr8:143955925 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1039G>A (p.Ala347Thr) single nucleotide variant not provided [RCV003440711] Chr8:142875794 [GRCh38]
Chr8:143957210 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.239+167C>G single nucleotide variant not provided [RCV003440712] Chr8:142879408 [GRCh38]
Chr8:143960824 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.596-13A>G single nucleotide variant not provided [RCV003569025] Chr8:142876898 [GRCh38]
Chr8:143958314 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3 copy number gain not provided [RCV003484754] Chr8:143689344..144448860 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:143757257-143957270)x3 copy number gain not provided [RCV003484756] Chr8:143757257..143957270 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143911521-144160011)x1 copy number loss not provided [RCV003483042] Chr8:143911521..144160011 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1122-2A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003468616] Chr8:142875314 [GRCh38]
Chr8:143956730 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.359_363dup (p.His122fs) duplication Deficiency of steroid 11-beta-monooxygenase [RCV003459895]   pathogenic
NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003459898]   likely pathogenic
NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003459902]   likely pathogenic
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003388670]|not provided [RCV003561333] Chr8:142876683 [GRCh38]
Chr8:143958099 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly) indel Deficiency of steroid 11-beta-monooxygenase [RCV003459899]   pathogenic
NM_000497.4(CYP11B1):c.1200+1G>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003468624] Chr8:142875233 [GRCh38]
Chr8:143956649 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs) microsatellite Deficiency of steroid 11-beta-monooxygenase [RCV003459896]   pathogenic
NM_000497.4(CYP11B1):c.623G>C (p.Arg208Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003388240] Chr8:142876858 [GRCh38]
Chr8:143958274 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV003468618] Chr8:142876750..142876766 [GRCh38]
Chr8:143958166..143958182 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV003468622] Chr8:142875281..142875284 [GRCh38]
Chr8:143956697..143956700 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003459897]|Inborn genetic diseases [RCV004364765]   uncertain significance
NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV003459906]|not provided [RCV003778514]   pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.984T>C (p.Phe328=) single nucleotide variant not provided [RCV003688289] Chr8:142875849 [GRCh38]
Chr8:143957265 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.954+14C>T single nucleotide variant not provided [RCV003739332] Chr8:142876227 [GRCh38]
Chr8:143957643 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+12C>G single nucleotide variant not provided [RCV003828553] Chr8:142874945 [GRCh38]
Chr8:143956361 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.800-13G>A single nucleotide variant not provided [RCV003690321] Chr8:142876408 [GRCh38]
Chr8:143957824 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.800-7C>G single nucleotide variant not provided [RCV003696786] Chr8:142876402 [GRCh38]
Chr8:143957818 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1330G>T (p.Gly444Cys) single nucleotide variant not provided [RCV003663543] Chr8:142875025 [GRCh38]
Chr8:143956441 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.9C>G (p.Leu3=) single nucleotide variant not provided [RCV003695206] Chr8:142879805 [GRCh38]
Chr8:143961221 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+6C>G single nucleotide variant not specified [RCV003490854] Chr8:142874951 [GRCh38]
Chr8:143956367 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.800-16C>G single nucleotide variant not provided [RCV003572266] Chr8:142876411 [GRCh38]
Chr8:143957827 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1224C>T (p.Tyr408=) single nucleotide variant not provided [RCV003660501] Chr8:142875131 [GRCh38]
Chr8:143956547 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.531G>A (p.Leu177=) single nucleotide variant not provided [RCV003713136] Chr8:142877087 [GRCh38]
Chr8:143958503 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1248G>A (p.Leu416=) single nucleotide variant not provided [RCV003686899] Chr8:142875107 [GRCh38]
Chr8:143956523 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.615T>C (p.Phe205=) single nucleotide variant not provided [RCV003693275] Chr8:142876866 [GRCh38]
Chr8:143958282 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.596-20G>C single nucleotide variant not provided [RCV003572470] Chr8:142876905 [GRCh38]
Chr8:143958321 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.396-10G>T single nucleotide variant not provided [RCV003547323] Chr8:142877232 [GRCh38]
Chr8:143958648 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.654T>C (p.Ser218=) single nucleotide variant not provided [RCV003662275] Chr8:142876827 [GRCh38]
Chr8:143958243 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.633G>A (p.Leu211=) single nucleotide variant not provided [RCV003545336] Chr8:142876848 [GRCh38]
Chr8:143958264 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.430C>T (p.Leu144=) single nucleotide variant not provided [RCV003738768] Chr8:142877188 [GRCh38]
Chr8:143958604 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+9A>G single nucleotide variant not provided [RCV003876041] Chr8:142876673 [GRCh38]
Chr8:143958089 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.896T>A (p.Leu299Gln) single nucleotide variant not provided [RCV003876724] Chr8:142876299 [GRCh38]
Chr8:143957715 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1509C>T (p.Asn503=) single nucleotide variant not provided [RCV003714246] Chr8:142874376 [GRCh38]
Chr8:143955792 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1350C>A (p.Cys450Ter) single nucleotide variant not provided [RCV003690559] Chr8:142875005 [GRCh38]
Chr8:143956421 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.954+14C>A single nucleotide variant not provided [RCV003661563] Chr8:142876227 [GRCh38]
Chr8:143957643 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+16C>G single nucleotide variant not provided [RCV003575899] Chr8:142876666 [GRCh38]
Chr8:143958082 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1122-13C>T single nucleotide variant not provided [RCV003690763] Chr8:142875325 [GRCh38]
Chr8:143956741 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.609T>C (p.Ala203=) single nucleotide variant not provided [RCV003879444] Chr8:142876872 [GRCh38]
Chr8:143958288 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1121+20T>C single nucleotide variant not provided [RCV003716144] Chr8:142875692 [GRCh38]
Chr8:143957108 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-17C>T single nucleotide variant not provided [RCV003880696] Chr8:142879204 [GRCh38]
Chr8:143960620 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-20C>T single nucleotide variant not provided [RCV003830624] Chr8:142879207 [GRCh38]
Chr8:143960623 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.955-11G>C single nucleotide variant not provided [RCV003578733] Chr8:142875889 [GRCh38]
Chr8:143957305 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.954+20C>T single nucleotide variant not provided [RCV003881214] Chr8:142876221 [GRCh38]
Chr8:143957637 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.258A>G (p.Ala86=) single nucleotide variant not provided [RCV003714340] Chr8:142879169 [GRCh38]
Chr8:143960585 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.955-14T>C single nucleotide variant not provided [RCV003880980] Chr8:142875892 [GRCh38]
Chr8:143957308 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.558G>A (p.Leu186=) single nucleotide variant not provided [RCV003687069] Chr8:142877060 [GRCh38]
Chr8:143958476 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.960G>A (p.Val320=) single nucleotide variant not provided [RCV003687026] Chr8:142875873 [GRCh38]
Chr8:143957289 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-18T>C single nucleotide variant not provided [RCV003688417] Chr8:142879205 [GRCh38]
Chr8:143960621 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.800-12C>T single nucleotide variant not provided [RCV003880258] Chr8:142876407 [GRCh38]
Chr8:143957823 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.105G>T (p.Val35=) single nucleotide variant not provided [RCV003572402] Chr8:142879709 [GRCh38]
Chr8:143961125 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1200+17C>T single nucleotide variant not provided [RCV003663059] Chr8:142875217 [GRCh38]
Chr8:143956633 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.699C>T (p.Ser233=) single nucleotide variant not provided [RCV003691862] Chr8:142876782 [GRCh38]
Chr8:143958198 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.395+18A>C single nucleotide variant not provided [RCV003878931] Chr8:142879014 [GRCh38]
Chr8:143960430 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1399-16C>G single nucleotide variant not provided [RCV003576335] Chr8:142874502 [GRCh38]
Chr8:143955918 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.192G>A (p.Leu64=) single nucleotide variant not provided [RCV003572385] Chr8:142879622 [GRCh38]
Chr8:143961038 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1257G>A (p.Arg419=) single nucleotide variant not provided [RCV003548611] Chr8:142875098 [GRCh38]
Chr8:143956514 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1356G>A (p.Gly452=) single nucleotide variant not provided [RCV003850484] Chr8:142874999 [GRCh38]
Chr8:143956415 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1356_1359del (p.Arg453fs) deletion not provided [RCV003579596] Chr8:142874996..142874999 [GRCh38]
Chr8:143956412..143956415 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1121+16G>A single nucleotide variant not provided [RCV003549526] Chr8:142875696 [GRCh38]
Chr8:143957112 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.633G>T (p.Leu211=) single nucleotide variant not provided [RCV003580349] Chr8:142876848 [GRCh38]
Chr8:143958264 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.595+19G>T single nucleotide variant not provided [RCV003581059] Chr8:142877004 [GRCh38]
Chr8:143958420 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.879_890delinsGTCGCCAGAT (p.Leu294fs) indel not provided [RCV003726920] Chr8:142876305..142876316 [GRCh38]
Chr8:143957721..143957732 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1201-11A>C single nucleotide variant not provided [RCV003579633] Chr8:142875165 [GRCh38]
Chr8:143956581 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.27G>A (p.Val9=) single nucleotide variant not provided [RCV003663993] Chr8:142879787 [GRCh38]
Chr8:143961203 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1158G>C (p.Ala386=) single nucleotide variant not provided [RCV003670457] Chr8:142875276 [GRCh38]
Chr8:143956692 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.316C>T (p.Leu106=) single nucleotide variant not provided [RCV003671266] Chr8:142879111 [GRCh38]
Chr8:143960527 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.326A>T (p.His109Leu) single nucleotide variant not provided [RCV003562139] Chr8:142879101 [GRCh38]
Chr8:143960517 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.595+20A>G single nucleotide variant not provided [RCV003816223] Chr8:142877003 [GRCh38]
Chr8:143958419 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-13C>T single nucleotide variant not provided [RCV003665830] Chr8:142879200 [GRCh38]
Chr8:143960616 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1170G>A (p.Leu390=) single nucleotide variant not provided [RCV003856614] Chr8:142875264 [GRCh38]
Chr8:143956680 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-16G>A single nucleotide variant not provided [RCV003703304] Chr8:142879203 [GRCh38]
Chr8:143960619 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1122-19T>C single nucleotide variant not provided [RCV003579943] Chr8:142875331 [GRCh38]
Chr8:143956747 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.705C>G (p.Val235=) single nucleotide variant not provided [RCV003579975] Chr8:142876776 [GRCh38]
Chr8:143958192 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1399-15C>T single nucleotide variant not provided [RCV003580014] Chr8:142874501 [GRCh38]
Chr8:143955917 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.800-1G>C single nucleotide variant not provided [RCV003561537] Chr8:142876396 [GRCh38]
Chr8:143957812 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.800-10C>T single nucleotide variant not provided [RCV003664545] Chr8:142876405 [GRCh38]
Chr8:143957821 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+17T>A single nucleotide variant not provided [RCV003849624] Chr8:142874940 [GRCh38]
Chr8:143956356 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1206G>A (p.Leu402=) single nucleotide variant not provided [RCV003836262] Chr8:142875149 [GRCh38]
Chr8:143956565 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+18G>C single nucleotide variant not provided [RCV003725326] Chr8:142874939 [GRCh38]
Chr8:143956355 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.239+17_239+26del deletion not provided [RCV003667890] Chr8:142879549..142879558 [GRCh38]
Chr8:143960965..143960974 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1044A>G (p.Ala348=) single nucleotide variant not provided [RCV003723299] Chr8:142875789 [GRCh38]
Chr8:143957205 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.165C>A (p.Ile55=) single nucleotide variant not provided [RCV003669533] Chr8:142879649 [GRCh38]
Chr8:143961065 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-10C>T single nucleotide variant not provided [RCV003673542] Chr8:142875164 [GRCh38]
Chr8:143956580 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+12C>A single nucleotide variant not provided [RCV003839590] Chr8:142874945 [GRCh38]
Chr8:143956361 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.768C>T (p.His256=) single nucleotide variant not provided [RCV003669972] Chr8:142876713 [GRCh38]
Chr8:143958129 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.396-13C>T single nucleotide variant not provided [RCV003559716] Chr8:142877235 [GRCh38]
Chr8:143958651 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1200+17C>A single nucleotide variant not provided [RCV003833836] Chr8:142875217 [GRCh38]
Chr8:143956633 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.800-17T>C single nucleotide variant not provided [RCV003659186] Chr8:142876412 [GRCh38]
Chr8:143957828 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1149G>A (p.Glu383=) single nucleotide variant not provided [RCV003701840] Chr8:142875285 [GRCh38]
Chr8:143956701 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.596-16T>C single nucleotide variant not provided [RCV003548414] Chr8:142876901 [GRCh38]
Chr8:143958317 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1074A>G (p.Ala358=) single nucleotide variant not provided [RCV003697420] Chr8:142875759 [GRCh38]
Chr8:143957175 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+12dup duplication not provided [RCV003854433] Chr8:142874944..142874945 [GRCh38]
Chr8:143956360..143956361 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.801C>T (p.Gly267=) single nucleotide variant not provided [RCV003659183] Chr8:142876394 [GRCh38]
Chr8:143957810 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.595+15G>C single nucleotide variant not provided [RCV003833800] Chr8:142877008 [GRCh38]
Chr8:143958424 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.954+18C>T single nucleotide variant not provided [RCV003668612] Chr8:142876223 [GRCh38]
Chr8:143957639 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.800-19C>T single nucleotide variant not provided [RCV003724292] Chr8:142876414 [GRCh38]
Chr8:143957830 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.595+13T>C single nucleotide variant not provided [RCV003816224] Chr8:142877010 [GRCh38]
Chr8:143958426 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.595+11C>T single nucleotide variant not provided [RCV003816225] Chr8:142877012 [GRCh38]
Chr8:143958428 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1368A>G (p.Ala456=) single nucleotide variant not provided [RCV003697425] Chr8:142874987 [GRCh38]
Chr8:143956403 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.596-7C>T single nucleotide variant not provided [RCV003554267] Chr8:142876892 [GRCh38]
Chr8:143958308 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1268A>G (p.Tyr423Cys) single nucleotide variant not provided [RCV003709341] Chr8:142875087 [GRCh38]
Chr8:143956503 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.46C>T (p.Leu16=) single nucleotide variant not provided [RCV003553285] Chr8:142879768 [GRCh38]
Chr8:143961184 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1294del (p.Arg432fs) deletion not provided [RCV003567391] Chr8:142875061 [GRCh38]
Chr8:143956477 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1491C>G (p.Leu497=) single nucleotide variant not provided [RCV003567549] Chr8:142874394 [GRCh38]
Chr8:143955810 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.573C>T (p.Ser191=) single nucleotide variant not provided [RCV003555247] Chr8:142877045 [GRCh38]
Chr8:143958461 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+11G>A single nucleotide variant not provided [RCV003675835] Chr8:142876671 [GRCh38]
Chr8:143958087 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.737G>C (p.Arg246Pro) single nucleotide variant not provided [RCV003732428] Chr8:142876744 [GRCh38]
Chr8:143958160 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1201-9C>G single nucleotide variant not provided [RCV003707129] Chr8:142875163 [GRCh38]
Chr8:143956579 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.955-18C>A single nucleotide variant not provided [RCV003551082] Chr8:142875896 [GRCh38]
Chr8:143957312 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.301C>T (p.Gln101Ter) single nucleotide variant not provided [RCV003563733] Chr8:142879126 [GRCh38]
Chr8:143960542 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1399-12C>A single nucleotide variant not provided [RCV003556588] Chr8:142874498 [GRCh38]
Chr8:143955914 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1398+8G>C single nucleotide variant not provided [RCV003562257] Chr8:142874949 [GRCh38]
Chr8:143956365 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-19C>G single nucleotide variant not provided [RCV003551479] Chr8:142875173 [GRCh38]
Chr8:143956589 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.519G>A (p.Lys173=) single nucleotide variant not provided [RCV003566849] Chr8:142877099 [GRCh38]
Chr8:143958515 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.595+19dup duplication not provided [RCV003709664] Chr8:142877003..142877004 [GRCh38]
Chr8:143958419..143958420 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.405T>C (p.Pro135=) single nucleotide variant not provided [RCV003823226] Chr8:142877213 [GRCh38]
Chr8:143958629 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.612T>C (p.Leu204=) single nucleotide variant not provided [RCV003705104] Chr8:142876869 [GRCh38]
Chr8:143958285 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-19C>T single nucleotide variant not provided [RCV003730944] Chr8:142879206 [GRCh38]
Chr8:143960622 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1344C>T (p.Arg448=) single nucleotide variant not provided [RCV003553645] Chr8:142875011 [GRCh38]
Chr8:143956427 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.679C>T (p.Leu227=) single nucleotide variant not provided [RCV003542640] Chr8:142876802 [GRCh38]
Chr8:143958218 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.648C>G (p.Pro216=) single nucleotide variant not provided [RCV003869602] Chr8:142876833 [GRCh38]
Chr8:143958249 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+16C>T single nucleotide variant not provided [RCV003737735] Chr8:142876666 [GRCh38]
Chr8:143958082 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1121+11G>A single nucleotide variant not provided [RCV003721127] Chr8:142875701 [GRCh38]
Chr8:143957117 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1236C>T (p.Arg412=) single nucleotide variant not provided [RCV003871324] Chr8:142875119 [GRCh38]
Chr8:143956535 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1322T>G (p.Val441Gly) single nucleotide variant not provided [RCV003557427] Chr8:142875033 [GRCh38]
Chr8:143956449 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1150C>T (p.Arg384Ter) single nucleotide variant Glucocorticoid-remediable aldosteronism [RCV003984889]|not provided [RCV003557428] Chr8:142875284 [GRCh38]
Chr8:143956700 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_000497.4(CYP11B1):c.483G>A (p.Val161=) single nucleotide variant not provided [RCV003565274] Chr8:142877135 [GRCh38]
Chr8:143958551 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.427C>A (p.Arg143=) single nucleotide variant not provided [RCV003737550] Chr8:142877191 [GRCh38]
Chr8:143958607 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1209G>T (p.Val403=) single nucleotide variant not provided [RCV003737552] Chr8:142875146 [GRCh38]
Chr8:143956562 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.596-11C>T single nucleotide variant not provided [RCV003704622] Chr8:142876896 [GRCh38]
Chr8:143958312 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.954+12A>C single nucleotide variant not provided [RCV003823874] Chr8:142876229 [GRCh38]
Chr8:143957645 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-18G>A single nucleotide variant not provided [RCV003556992] Chr8:142875172 [GRCh38]
Chr8:143956588 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000497.4(CYP11B1):c.105G>A (p.Val35=) single nucleotide variant not provided [RCV003685809] Chr8:142879709 [GRCh38]
Chr8:143961125 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.978G>A (p.Thr326=) single nucleotide variant not provided [RCV003867064] Chr8:142875855 [GRCh38]
Chr8:143957271 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1354G>C (p.Gly452Arg) single nucleotide variant not provided [RCV003678290] Chr8:142875001 [GRCh38]
Chr8:143956417 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1122-11C>T single nucleotide variant not provided [RCV003871136] Chr8:142875323 [GRCh38]
Chr8:143956739 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.607G>A (p.Ala203Thr) single nucleotide variant not provided [RCV003737986] Chr8:142876874 [GRCh38]
Chr8:143958290 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.240-14G>T single nucleotide variant not provided [RCV003555818] Chr8:142879201 [GRCh38]
Chr8:143960617 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.687C>G (p.Val229=) single nucleotide variant not provided [RCV003721554] Chr8:142876794 [GRCh38]
Chr8:143958210 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.345C>A (p.Pro115=) single nucleotide variant not provided [RCV003718681] Chr8:142879082 [GRCh38]
Chr8:143960498 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.412C>G (p.Arg138Gly) single nucleotide variant not provided [RCV003563091] Chr8:142877206 [GRCh38]
Chr8:143958622 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1399-5C>T single nucleotide variant not provided [RCV003568767] Chr8:142874491 [GRCh38]
Chr8:143955907 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.239+12C>A single nucleotide variant not provided [RCV003556959] Chr8:142879563 [GRCh38]
Chr8:143960979 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1200+15C>T single nucleotide variant not provided [RCV003865069] Chr8:142875219 [GRCh38]
Chr8:143956635 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1282T>G (p.Trp428Gly) single nucleotide variant not provided [RCV003865311] Chr8:142875073 [GRCh38]
Chr8:143956489 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.239+14T>C single nucleotide variant not provided [RCV003729278] Chr8:142879561 [GRCh38]
Chr8:143960977 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.522G>A (p.Lys174=) single nucleotide variant not provided [RCV003859244] Chr8:142877096 [GRCh38]
Chr8:143958512 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+18G>C single nucleotide variant not provided [RCV003562346] Chr8:142876664 [GRCh38]
Chr8:143958080 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1212C>T (p.Arg404=) single nucleotide variant not provided [RCV003705141] Chr8:142875143 [GRCh38]
Chr8:143956559 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.426G>A (p.Leu142=) single nucleotide variant not provided [RCV003709337] Chr8:142877192 [GRCh38]
Chr8:143958608 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.438A>G (p.Pro146=) single nucleotide variant not provided [RCV003675857] Chr8:142877180 [GRCh38]
Chr8:143958596 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.765G>A (p.Glu255=) single nucleotide variant not provided [RCV003860960] Chr8:142876716 [GRCh38]
Chr8:143958132 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1416G>A (p.Gln472=) single nucleotide variant not provided [RCV003678380] Chr8:142874469 [GRCh38]
Chr8:143955885 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.240-13C>G single nucleotide variant not provided [RCV003732884] Chr8:142879200 [GRCh38]
Chr8:143960616 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-5C>T single nucleotide variant not provided [RCV003567998] Chr8:142875159 [GRCh38]
Chr8:143956575 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.799+20C>T single nucleotide variant not provided [RCV003706641] Chr8:142876662 [GRCh38]
Chr8:143958078 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1201-15C>A single nucleotide variant not provided [RCV003729978] Chr8:142875169 [GRCh38]
Chr8:143956585 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1359G>A (p.Arg453=) single nucleotide variant not provided [RCV003706815] Chr8:142874996 [GRCh38]
Chr8:143956412 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1377_1378del (p.Glu459fs) microsatellite not provided [RCV003552077] Chr8:142874977..142874978 [GRCh38]
Chr8:143956393..143956394 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1503C>T (p.Ala501=) single nucleotide variant not provided [RCV003677697] Chr8:142874382 [GRCh38]
Chr8:143955798 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1024C>T (p.Gln342Ter) single nucleotide variant not provided [RCV003565487] Chr8:142875809 [GRCh38]
Chr8:143957225 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1201-17C>G single nucleotide variant not provided [RCV003861688] Chr8:142875171 [GRCh38]
Chr8:143956587 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1291A>T (p.Ile431Phe) single nucleotide variant Inborn genetic diseases [RCV004367751] Chr8:142875064 [GRCh38]
Chr8:143956480 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.266T>C (p.Val89Ala) single nucleotide variant Inborn genetic diseases [RCV004367753] Chr8:142879161 [GRCh38]
Chr8:143960577 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1123C>A (p.Leu375Ile) single nucleotide variant Inborn genetic diseases [RCV004367750] Chr8:142875311 [GRCh38]
Chr8:143956727 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.650G>A (p.Ser217Asn) single nucleotide variant Inborn genetic diseases [RCV004367754] Chr8:142876831 [GRCh38]
Chr8:143958247 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1081G>A (p.Glu361Lys) single nucleotide variant Inborn genetic diseases [RCV004367749] Chr8:142875752 [GRCh38]
Chr8:143957168 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.868G>A (p.Val290Met) single nucleotide variant Inborn genetic diseases [RCV004367755] Chr8:142876327 [GRCh38]
Chr8:143957743 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.-10G>A single nucleotide variant CYP11B1-related disorder [RCV003967182] Chr8:142879823 [GRCh38]
Chr8:143961239 [GRCh37]
Chr8:8q24.3		 likely benign
NM_000497.4(CYP11B1):c.1231G>A (p.Gly411Ser) single nucleotide variant not specified [RCV004527025] Chr8:142875124 [GRCh38]
Chr8:143956540 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_000497.4(CYP11B1):c.593_594delinsGT (p.Glu198Gly) indel not specified [RCV004527102] Chr8:142877024..142877025 [GRCh38]
Chr8:143958440..143958441 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.955-2A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV004575746] Chr8:142875880 [GRCh38]
Chr8:143957296 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.1136del (p.Gly379fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV004575747] Chr8:142875298 [GRCh38]
Chr8:143956714 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.228del (p.Ile78fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV004575748] Chr8:142879586 [GRCh38]
Chr8:143961002 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NC_000008.10:g.(?_143955789)_(143961229_?)del deletion not provided [RCV004583314] Chr8:143955789..143961229 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_000497.4(CYP11B1):c.1111G>A (p.Glu371Lys) single nucleotide variant Congenital adrenal hyperplasia [RCV004586335] Chr8:142875722 [GRCh38]
Chr8:143957138 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NC_000008.10:g.(?_143958078)_(143995854_?)dup duplication not provided [RCV004583315] Chr8:143958078..143995854 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.367C>G (p.Arg123Gly) single nucleotide variant CYP11B1-related disorder [RCV004752266] Chr8:142879060 [GRCh38]
Chr8:143960476 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.950A>T (p.Asp317Val) single nucleotide variant Congenital adrenal hyperplasia [RCV004766488] Chr8:142876245 [GRCh38]
Chr8:143957661 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_000497.4(CYP11B1):c.783C>G (p.Asp261Glu) single nucleotide variant CYP11B1-related disorder [RCV004752190] Chr8:142876698 [GRCh38]
Chr8:143958114 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_000497.4(CYP11B1):c.1393C>T (p.His465Tyr) single nucleotide variant not specified [RCV004699798] Chr8:142874962 [GRCh38]
Chr8:143956378 [GRCh37]
Chr8:8q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2987
Count of miRNA genes:808
Interacting mature miRNAs:928
Transcripts:ENST00000292427, ENST00000314111, ENST00000377675, ENST00000517471, ENST00000519285
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407273540GWAS922516_Hbody height QTL GWAS922516 (human)2e-118body height (VT:0001253)body height (CMO:0000106)8142875989142875990Human
407219815GWAS868791_Htestosterone measurement QTL GWAS868791 (human)2e-09testosterone measurementserum testosterone level (CMO:0000568)8142876470142876471Human
407220320GWAS869296_Htestosterone measurement QTL GWAS869296 (human)7e-15testosterone measurementserum testosterone level (CMO:0000568)8142873902142873903Human
407218016GWAS866992_Htestosterone measurement QTL GWAS866992 (human)1e-11testosterone measurementserum testosterone level (CMO:0000568)8142875509142875510Human
407208995GWAS857971_Hskeletal age QTL GWAS857971 (human)2e-10skeletal age8142875989142875990Human
407072901GWAS721877_Htestosterone measurement QTL GWAS721877 (human)3e-21testosterone measurementserum testosterone level (CMO:0000568)8142876470142876471Human
407208994GWAS857970_Hskeletal age QTL GWAS857970 (human)6e-12skeletal age8142875989142875990Human
407332174GWAS981150_Hdiastolic blood pressure QTL GWAS981150 (human)3e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)8142877996142877997Human
407020782GWAS669758_Htestosterone measurement QTL GWAS669758 (human)7e-32testosterone measurementserum testosterone level (CMO:0000568)8142872874142872875Human
407109590GWAS758566_Handrostenedione measurement QTL GWAS758566 (human)4e-10androstenedione measurement8142876542142876543Human
407033050GWAS682026_Hfree androgen index QTL GWAS682026 (human)1e-15free androgen index8142876470142876471Human
407109593GWAS758569_Handrostenedione measurement QTL GWAS758569 (human)0.000007androstenedione measurement8142876542142876543Human
407109592GWAS758568_Handrostenedione measurement QTL GWAS758568 (human)4e-08androstenedione measurement8142878061142878062Human

Markers in Region
RH80276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,955,519 - 143,955,755UniSTSGRCh37
Build 368143,952,521 - 143,952,757RGD