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
Description: Exhibits steroid 11-beta-monooxygenase activity. Involved in several processes, including cellular response to hormone stimulus; cellular response to potassium ion; and primary alcohol biosynthetic process. Localizes to mitochondrion. Implicated in congenital adrenal hyperplasia; glucocorticoid-remediable aldosteronism; and primary hyperaldosteronism. Biomarker of adrenal cortical adenoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,872,356 - 142,879,846 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8142,872,354 - 142,879,846 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,872,357 - 142,879,825 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,953,773 - 143,961,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,950,775 - 143,958,238 (-)NCBINCBI36hg18NCBI36
Build 348143,952,217 - 143,958,238NCBI
Celera8140,263,402 - 140,270,865 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,206,042 - 139,213,505 (-)NCBIHuRef
CHM1_18143,994,059 - 144,001,520 (-)NCBICHM1_1
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)
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)
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)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Butylparaben  (ISO)
caffeine  (ISO)
colforsin daropate hydrochloride  (EXP)
corticosterone  (EXP)
cortisol  (EXP)
cyproconazole  (ISO)
decabromodiphenyl ether  (ISO)
deoxynivalenol  (EXP)
Di-n-hexyl phthalate  (ISO)
dibutyl 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)
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)
perflubron  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
potassium chloride  (EXP)
proanthocyanidin  (EXP)
prochloraz  (EXP,ISO)
quercetin  (EXP)
rotenone  (EXP)
simvastatin  (ISO)
testosterone  (ISO)
tetramethylpyrazine  (EXP)
toluene  (ISO)
torcetrapib  (EXP)
tributylstannane  (EXP)
triphenylstannane  (EXP,ISO)
Triptolide  (EXP)
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 aldosterone  (IAGP)
Abnormal circulating renin  (IAGP)
Abnormal EKG  (IAGP)
Abnormal labia majora morphology  (IAGP)
Abnormality of hair growth rate  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Abnormality of the urinary system  (IAGP)
Accelerated bone age after puberty  (IAGP)
Accelerated skeletal maturation  (IAGP)
Adrenal hyperplasia  (IAGP)
Adrenocorticotropic hormone excess  (IAGP)
Adrenogenital syndrome  (IAGP)
Ambiguous genitalia, female  (IAGP)
Aortic root aneurysm  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral cryptorchidism  (IAGP)
Caesarian section  (IAGP)
Clitoral hypertrophy  (IAGP)
Congenital adrenal hyperplasia  (IAGP)
Decreased circulating aldosterone level  (IAGP)
Decreased circulating cortisol level  (IAGP)
Decreased circulating renin level  (IAGP)
Decreased fertility in females  (IAGP)
Decreased fertility in males  (IAGP)
Decreased testicular size  (IAGP)
Delayed skeletal maturation  (IAGP)
Dexamethasone-suppressible primary hyperaldosteronism  (IAGP)
Ectopic adrenal gland  (IAGP)
Elevated serum 11-deoxycortisol  (IAGP)
Enlarged polycystic ovaries  (IAGP)
Epistaxis  (IAGP)
Feeding difficulties  (IAGP)
Female sexual dysfunction  (IAGP)
Fused labia minora  (IAGP)
Generalized hyperpigmentation  (IAGP)
Gynecomastia  (IAGP)
Headache  (IAGP)
Hirsutism  (IAGP)
Hyperaldosteronism  (IAGP)
Hyperkalemia  (IAGP)
Hypernatriuria  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperpigmented genitalia  (IAGP)
Hypertension  (IAGP)
Hypervolemia  (IAGP)
Hypokalemia  (IAGP)
Hyponatremia  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypoplasia of the vagina  (IAGP)
Hypovolemia  (IAGP)
Increased circulating ACTH level  (IAGP)
Increased circulating androgen level  (IAGP)
Increased serum androstenedione  (IAGP)
Increased serum testosterone level  (IAGP)
Intracranial hemorrhage  (IAGP)
Irregular menstruation  (IAGP)
Long penis  (IAGP)
Muscle weakness  (IAGP)
Nausea  (IAGP)
Neonatal onset  (IAGP)
Onset  (IAGP)
Osteoporosis  (IAGP)
Polydipsia  (IAGP)
Precocious puberty in males  (IAGP)
Preeclampsia  (IAGP)
Premature adrenarche  (IAGP)
Renal salt wasting  (IAGP)
Secretory adrenocortical adenoma  (IAGP)
Short stature  (IAGP)
Stroke  (IAGP)
Tall stature  (IAGP)
Tinnitus  (IAGP)
Urogenital sinus anomaly  (IAGP)
Vomiting  (IAGP)
References

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  


Genomics

Comparative Map Data
CYP11B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,872,356 - 142,879,846 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8142,872,354 - 142,879,846 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,872,357 - 142,879,825 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,953,773 - 143,961,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,950,775 - 143,958,238 (-)NCBINCBI36hg18NCBI36
Build 348143,952,217 - 143,958,238NCBI
Celera8140,263,402 - 140,270,865 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,206,042 - 139,213,505 (-)NCBIHuRef
CHM1_18143,994,059 - 144,001,520 (-)NCBICHM1_1
Cyp11b2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,838,590 - 106,845,004 (-)NCBI
Rnor_6.0 Ensembl7116,156,219 - 116,255,167 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,248,759 - 116,255,205 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,151,128 - 116,157,542 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,043,365 - 113,049,779 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.18142,628,706 - 142,634,654 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,629,127 - 142,634,654 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,584,976 - 139,592,466 (-)NCBIMhudiblu_PPA_v0panPan3
CYP11B1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,125,409 - 137,132,267 (-)NCBI

Position Markers
RH80276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,955,519 - 143,955,755UniSTSGRCh37
Build 368143,952,521 - 143,952,757RGDNCBI36
Celera8140,265,148 - 140,265,384RGD
Cytogenetic Map8q21UniSTS
HuRef8139,207,788 - 139,208,024UniSTS
GeneMap99-GB4 RH Map8566.1UniSTS
PMC60851P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,998,573 - 143,998,709UniSTSGRCh37
GRCh378143,960,546 - 143,960,682UniSTSGRCh37
Build 368143,957,548 - 143,957,684RGDNCBI36
Celera8140,270,175 - 140,270,311RGD
Celera8140,308,008 - 140,308,144UniSTS
Cytogenetic Map8q21-q22UniSTS
Cytogenetic Map8q21UniSTS
HuRef8139,250,829 - 139,250,965UniSTS
HuRef8139,212,815 - 139,212,951UniSTS
CYP11B1_2340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,992,787 - 143,993,473UniSTSGRCh37
GRCh378143,955,186 - 143,955,866UniSTSGRCh37
Build 368143,952,188 - 143,952,868RGDNCBI36
Celera8140,302,233 - 140,302,919UniSTS
Celera8140,264,815 - 140,265,495RGD
HuRef8139,245,056 - 139,245,742UniSTS
HuRef8139,207,455 - 139,208,135UniSTS
STS-M32879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,992,642 - 143,992,804UniSTSGRCh37
GRCh378143,955,041 - 143,955,203UniSTSGRCh37
Build 368143,952,043 - 143,952,205RGDNCBI36
Celera8140,302,088 - 140,302,250UniSTS
Celera8140,264,670 - 140,264,832RGD
Cytogenetic Map8q21-q22UniSTS
Cytogenetic Map8q21UniSTS
HuRef8139,207,310 - 139,207,472UniSTS
HuRef8139,244,911 - 139,245,073UniSTS
GeneMap99-GB4 RH Map8557.34UniSTS

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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High 254 1
Medium 7 10 15 4 4 2 21 4 11 4 28 7 2 8 12
Low 458 472 290 76 243 47 514 273 382 35 620 295 29 177 340
Below cutoff 1300 1513 675 255 806 151 2075 1123 2201 79 400 669 105 627 1380

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001026213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC083841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF332549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF478474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ431375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ431380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ431381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ431382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY054989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU236683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU201906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X85218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000292427   ⟹   ENSP00000292427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,872,357 - 142,879,825 (-)Ensembl
RefSeq Acc Id: ENST00000314111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,872,356 - 142,879,846 (-)Ensembl
RefSeq Acc Id: ENST00000377675   ⟹   ENSP00000366903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,873,825 - 142,879,820 (-)Ensembl
RefSeq Acc Id: ENST00000517471   ⟹   ENSP00000428043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,873,824 - 142,879,824 (-)Ensembl
RefSeq Acc Id: ENST00000519285   ⟹   ENSP00000430144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,872,357 - 142,875,797 (-)Ensembl
RefSeq Acc Id: NM_000497   ⟹   NP_000488
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,872,357 - 142,879,825 (-)NCBI
GRCh378143,953,773 - 143,961,236 (-)ENTREZGENE
Build 368143,950,775 - 143,958,238 (-)NCBI Archive
HuRef8139,206,042 - 139,213,505 (-)ENTREZGENE
CHM1_18143,994,059 - 144,001,520 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001026213   ⟹   NP_001021384
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,872,357 - 142,879,820 (-)NCBI
GRCh378143,953,773 - 143,961,236 (-)NCBI
Build 368143,950,775 - 143,958,238 (-)NCBI Archive
HuRef8139,206,042 - 139,213,505 (-)ENTREZGENE
CHM1_18143,994,059 - 144,001,520 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001021384   ⟸   NM_001026213
- Peptide Label: isoform 2 precursor
- UniProtKB: P15538 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000488   ⟸   NM_000497
- Peptide Label: isoform 1 precursor
- UniProtKB: P15538 (UniProtKB/Swiss-Prot),   Q8TDD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428043   ⟸   ENST00000517471
RefSeq Acc Id: ENSP00000292427   ⟸   ENST00000292427
RefSeq Acc Id: ENSP00000430144   ⟸   ENST00000519285
RefSeq Acc Id: ENSP00000366903   ⟸   ENST00000377675

Promoters
RGD ID:7214327
Promoter ID:EPDNEW_H12905
Type:single initiation site
Name:CYP11B1_1
Description:cytochrome P450 family 11 subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,879,826 - 142,879,886EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000497.3(CYP11B1):c.1266C>T (p.Arg422=) single nucleotide variant not provided [RCV000516859] Chr8:142875089 [GRCh38]
Chr8:143956505 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.617G>T (p.Gly206Val) single nucleotide variant not specified [RCV000517090] Chr8:142876864 [GRCh38]
Chr8:143958280 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001026213.1(CYP11B1):c.1181del (p.Asn394fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000668755]|not provided [RCV000518608] Chr8:142875253 [GRCh38]
Chr8:143956669 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) single nucleotide variant Congenital adrenal hyperplasia [RCV000029633]|Deficiency of steroid 11-beta-monooxygenase [RCV001095249]|Hyperaldosteronism, familial, type I [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_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) single nucleotide variant Congenital adrenal hyperplasia [RCV000029634]|not specified [RCV000516792] Chr8:142875818 [GRCh38]
Chr8:143957234 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) indel Congenital adrenal hyperplasia [RCV000029635] Chr8:142875817..142875818 [GRCh38]
Chr8:143957233..143957234 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1016C>T (p.Ala339Val) single nucleotide variant Congenital adrenal hyperplasia [RCV000029636] Chr8:142875817 [GRCh38]
Chr8:143957233 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000029637]|Hyperaldosteronism, familial, type I [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_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) single nucleotide variant Congenital adrenal hyperplasia [RCV000029638] Chr8:142875713 [GRCh38]
Chr8:143957129 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.1122-12C>T single nucleotide variant Congenital adrenal hyperplasia [RCV000029639] Chr8:142875324 [GRCh38]
Chr8:143956740 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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_000497.3(CYP11B1):c.1144C>T (p.Leu382=) single nucleotide variant Congenital adrenal hyperplasia [RCV000029641]|Deficiency of steroid 11-beta-monooxygenase [RCV001095138]|Hyperaldosteronism, familial, type I [RCV000291528]|not provided [RCV000874744] Chr8:142875290 [GRCh38]
Chr8:143956706 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) single nucleotide variant Congenital adrenal hyperplasia [RCV000029643] Chr8:142879689 [GRCh38]
Chr8:143961105 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) single nucleotide variant Congenital adrenal hyperplasia [RCV000029644]|Deficiency of steroid 11-beta-monooxygenase [RCV001095256]|Hyperaldosteronism, familial, type I [RCV000398212]|not provided [RCV000874015] Chr8:142879184 [GRCh38]
Chr8:143960600 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.3(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_000497.3(CYP11B1):c.413G>A (p.Arg138His) single nucleotide variant Congenital adrenal hyperplasia [RCV000029647]|Deficiency of steroid 11-beta-monooxygenase [RCV001158699]|Hyperaldosteronism, familial, type I [RCV001165427] Chr8:142877205 [GRCh38]
Chr8:143958621 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
NM_000497.3(CYP11B1):c.799+2T>C single nucleotide variant Congenital adrenal hyperplasia [RCV000029648] Chr8:142876680 [GRCh38]
Chr8:143958096 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.799+5G>C single nucleotide variant Congenital adrenal hyperplasia [RCV000029649]|Deficiency of steroid 11-beta-monooxygenase [RCV000665430]|not provided [RCV000517998] Chr8:142876677 [GRCh38]
Chr8:143958093 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001230]|Hyperaldosteronism, familial, type I [RCV001199200]|not provided [RCV000791917] Chr8:142875012 [GRCh38]
Chr8:143956428 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA variation Hyperaldosteronism, familial, type I [RCV000001231] Chr8:8q21 pathogenic
NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001232]|not provided [RCV001066246] Chr8:142876242 [GRCh38]
Chr8:143957658 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001233] Chr8:142875712 [GRCh38]
Chr8:143957128 [GRCh37]
Chr8:8q24.3
pathogenic
CYP11B1, 2-BP INS insertion Deficiency of steroid 11-beta-monooxygenase [RCV000001234] Chr8:8q21 pathogenic
NM_000497.3(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_000497.3(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_000497.3(CYP11B1):c.956C>T (p.Thr319Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001237] Chr8:142875877 [GRCh38]
Chr8:143957293 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) single nucleotide variant Congenital adrenal hyperplasia [RCV000029642]|Deficiency of steroid 11-beta-monooxygenase [RCV000001238] 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_000497.3(CYP11B1):c.1398+4A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001240] Chr8:142874953 [GRCh38]
Chr8:143956369 [GRCh37]
Chr8:8q24.3
pathogenic
CYP11B1, CYP11B1/CYP11B2 CHIMERA deletion Deficiency of steroid 11-beta-monooxygenase [RCV000001241] Chr8:8q21 pathogenic
NM_000497.3(CYP11B1):c.595+16G>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001242] Chr8:142877007 [GRCh38]
Chr8:143958423 [GRCh37]
Chr8:8q24.3
pathogenic
CYP11B1, CYP11B1/CYP11B2 CHIMERA deletion Deficiency of steroid 11-beta-monooxygenase [RCV000001243] Chr8:8q21 pathogenic
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001244] Chr8:142875086 [GRCh38]
Chr8:143956502 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) single nucleotide variant Congenital adrenal hyperplasia [RCV000029646]|Deficiency of steroid 11-beta-monooxygenase [RCV000001245]|not provided [RCV000517938] Chr8:142879146 [GRCh38]
Chr8:143960562 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic|not provided
NM_000497.3(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_000497.3(CYP11B1):c.954G>A (p.Thr318=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667365]|not provided [RCV000516213] Chr8:142876241 [GRCh38]
Chr8:143957657 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.50C>T (p.Ser17Phe) single nucleotide variant not specified [RCV000516509] Chr8:142879764 [GRCh38]
Chr8:143961180 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050223] Chr8:142877191 [GRCh38]
Chr8:143958607 [GRCh37]
Chr8:8q24.3
likely pathogenic|not provided
NM_000497.3(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_000497.3(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_000497.3(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_000497.3(CYP11B1):c.995G>A (p.Arg332Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050227] Chr8:142875838 [GRCh38]
Chr8:143957254 [GRCh37]
Chr8:8q24.3
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_000497.3(CYP11B1):c.422G>A (p.Arg141Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673573]|not provided [RCV000711402] Chr8:142877196 [GRCh38]
Chr8:143958612 [GRCh37]
Chr8:143955614 [NCBI36]
Chr8:8q24.3
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_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000672120]|not provided [RCV000224289] Chr8:142875024 [GRCh38]
Chr8:143956440 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_000497.3(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_000497.3(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_000497.3(CYP11B1):c.606G>A (p.Leu202=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000272874]|Hyperaldosteronism, familial, type I [RCV000320919]|not provided [RCV000877983] Chr8:142876875 [GRCh38]
Chr8:143958291 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*245C>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000396632]|Hyperaldosteronism, familial, type I [RCV000344586] Chr8:142874128 [GRCh38]
Chr8:143955544 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.239+13C>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000287575]|Hyperaldosteronism, familial, type I [RCV000344850]|not specified [RCV001289402] Chr8:142879562 [GRCh38]
Chr8:143960978 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*670A>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000337434]|Hyperaldosteronism, familial, type I [RCV000394825] Chr8:142873703 [GRCh38]
Chr8:143955119 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.800-14C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000314377]|Hyperaldosteronism, familial, type I [RCV000395352]|not provided [RCV000516230] Chr8:142876409 [GRCh38]
Chr8:143957825 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.825T>C (p.Tyr275=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000335488]|Hyperaldosteronism, familial, type I [RCV000395358]|not provided [RCV000873646]|not specified [RCV001289403] Chr8:142876370 [GRCh38]
Chr8:143957786 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*738G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000383461]|Hyperaldosteronism, familial, type I [RCV000284379] Chr8:142873635 [GRCh38]
Chr8:143955051 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000323554]|Hyperaldosteronism, familial, type I [RCV000284859]|not provided [RCV000874014] Chr8:142876265 [GRCh38]
Chr8:143957681 [GRCh37]
Chr8:8q24.3
likely benign
NM_000497.3(CYP11B1):c.*718T>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000335804]|Hyperaldosteronism, familial, type I [RCV000285529] Chr8:142873655 [GRCh38]
Chr8:143955071 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*634G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000311738]|Hyperaldosteronism, familial, type I [RCV000371065] Chr8:142873739 [GRCh38]
Chr8:143955155 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000401123]|Hyperaldosteronism, familial, type I [RCV000371156] Chr8:142876733 [GRCh38]
Chr8:143958149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000309802]|Hyperaldosteronism, familial, type I [RCV000396739] Chr8:142879589 [GRCh38]
Chr8:143961005 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*1076C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000283544]|Hyperaldosteronism, familial, type I [RCV000397287] Chr8:142873297 [GRCh38]
Chr8:143954713 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*1871T>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000310182]|Hyperaldosteronism, familial, type I [RCV000269132] Chr8:142872502 [GRCh38]
Chr8:143953918 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*848C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000328910]|Hyperaldosteronism, familial, type I [RCV000269207] Chr8:142873525 [GRCh38]
Chr8:143954941 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*132T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000398771]|Hyperaldosteronism, familial, type I [RCV000303302] Chr8:142874241 [GRCh38]
Chr8:143955657 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*1435T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000358563]|Hyperaldosteronism, familial, type I [RCV000303764] Chr8:142872938 [GRCh38]
Chr8:143954354 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000342727]|Hyperaldosteronism, familial, type I [RCV000304249]|not provided [RCV000517718] Chr8:142875735 [GRCh38]
Chr8:143957151 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*1499C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000400210]|Hyperaldosteronism, familial, type I [RCV000347968] Chr8:142872874 [GRCh38]
Chr8:143954290 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000324614]|Hyperaldosteronism, familial, type I [RCV000372260]|not provided [RCV000711404] Chr8:142877064 [GRCh38]
Chr8:143958480 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*1512G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000307226]|Hyperaldosteronism, familial, type I [RCV000398997] Chr8:142872861 [GRCh38]
Chr8:143954277 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*1417G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000268559]|Hyperaldosteronism, familial, type I [RCV000305031] Chr8:142872956 [GRCh38]
Chr8:143954372 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000357120]|Hyperaldosteronism, familial, type I [RCV000400145] Chr8:142875747 [GRCh38]
Chr8:143957163 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000344753]|Hyperaldosteronism, familial, type I [RCV000287487] Chr8:142875277 [GRCh38]
Chr8:143956693 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.823T>C (p.Tyr275His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000282706]|Hyperaldosteronism, familial, type I [RCV000349385]|not provided [RCV000875628] Chr8:142876372 [GRCh38]
Chr8:143957788 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*400C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000293179]|Hyperaldosteronism, familial, type I [RCV000350476] Chr8:142873973 [GRCh38]
Chr8:143955389 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*468C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000319051]|Hyperaldosteronism, familial, type I [RCV000375946] Chr8:142873905 [GRCh38]
Chr8:143955321 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*1555del deletion Congenital adrenal hyperplasia [RCV000296435]|Hyperaldosteronism, familial, type I [RCV000351310] Chr8:142872818 [GRCh38]
Chr8:143954234 [GRCh37]
Chr8:8q24.3
likely benign
NM_000497.3(CYP11B1):c.*613A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000401714]|Hyperaldosteronism, familial, type I [RCV000308215] Chr8:142873760 [GRCh38]
Chr8:143955176 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000365375]|Hyperaldosteronism, familial, type I [RCV000308366]|not provided [RCV000873572]|not specified [RCV000422800] Chr8:142876738 [GRCh38]
Chr8:143958154 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.954+9G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000376915]|Hyperaldosteronism, familial, type I [RCV000329356] Chr8:142876232 [GRCh38]
Chr8:143957648 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*1258G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000275454]|Hyperaldosteronism, familial, type I [RCV000330586] Chr8:142873115 [GRCh38]
Chr8:143954531 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*923G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000312470]|Hyperaldosteronism, familial, type I [RCV000400670] Chr8:142873450 [GRCh38]
Chr8:143954866 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*1042A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000343186]|Hyperaldosteronism, familial, type I [RCV000401464] Chr8:142873331 [GRCh38]
Chr8:143954747 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*193A>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000347855]|Hyperaldosteronism, familial, type I [RCV000309315] Chr8:142874180 [GRCh38]
Chr8:143955596 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000665161]|Hyperaldosteronism, familial, type I [RCV000354829]|not provided [RCV000711398] Chr8:142874434 [GRCh38]
Chr8:143955850 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*737C>T single nucleotide variant Congenital adrenal hyperplasia [RCV000320620]|Hyperaldosteronism, familial, type I [RCV000379908] Chr8:142873636 [GRCh38]
Chr8:143955052 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000278114]|Hyperaldosteronism, familial, type I [RCV000380524]|not specified [RCV000518376] Chr8:142876322 [GRCh38]
Chr8:143957738 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*471A>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000379427]|Hyperaldosteronism, familial, type I [RCV000259195] Chr8:142873902 [GRCh38]
Chr8:143955318 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*1138del deletion Congenital adrenal hyperplasia [RCV000346760]|Hyperaldosteronism, familial, type I [RCV000291805] Chr8:142873235 [GRCh38]
Chr8:143954651 [GRCh37]
Chr8:8q24.3
likely benign
NM_000497.3(CYP11B1):c.*1622C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000316337]|Hyperaldosteronism, familial, type I [RCV000261142] Chr8:142872751 [GRCh38]
Chr8:143954167 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*901G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000367235]|Hyperaldosteronism, familial, type I [RCV000277343] Chr8:142873472 [GRCh38]
Chr8:143954888 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000385596]|Hyperaldosteronism, familial, type I [RCV000293653] Chr8:142879181 [GRCh38]
Chr8:143960597 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1399-14G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000319378]|Hyperaldosteronism, familial, type I [RCV000261882]|not specified [RCV000518677] Chr8:142874500 [GRCh38]
Chr8:143955916 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000325754]|Hyperaldosteronism, familial, type I [RCV000277689]|not provided [RCV000877389]|not specified [RCV000499909] Chr8:142875819 [GRCh38]
Chr8:143957235 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000369678]|Hyperaldosteronism, familial, type I [RCV000312683]|not specified [RCV000503743] Chr8:142875791 [GRCh38]
Chr8:143957207 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.3(CYP11B1):c.595+12G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000266926]|Hyperaldosteronism, familial, type I [RCV000359290] Chr8:142877011 [GRCh38]
Chr8:143958427 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000274881]|Hyperaldosteronism, familial, type I [RCV000385679]|not provided [RCV000873561]|not specified [RCV000517786] Chr8:142875002 [GRCh38]
Chr8:143956418 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.*1566G>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000350010]|Hyperaldosteronism, familial, type I [RCV000385918] Chr8:142872807 [GRCh38]
Chr8:143954223 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*1209C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000389700]|Hyperaldosteronism, familial, type I [RCV000295446] Chr8:142873164 [GRCh38]
Chr8:143954580 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1488C>T (p.Leu496=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000268296]|Hyperaldosteronism, familial, type I [RCV000360638] Chr8:142874397 [GRCh38]
Chr8:143955813 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.375C>G (p.His125Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000318740]|Hyperaldosteronism, familial, type I [RCV000280074]|not provided [RCV000878847] Chr8:142879052 [GRCh38]
Chr8:143960468 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*318A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000388596]|Hyperaldosteronism, familial, type I [RCV000296570] Chr8:142874055 [GRCh38]
Chr8:143955471 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*1020C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000356758]|Hyperaldosteronism, familial, type I [RCV000297239] Chr8:142873353 [GRCh38]
Chr8:143954769 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.104T>C (p.Val35Ala) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000304435]|Hyperaldosteronism, familial, type I [RCV000361436]|not provided [RCV000876416] Chr8:142879710 [GRCh38]
Chr8:143961126 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*516A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000273065]|Hyperaldosteronism, familial, type I [RCV000363072] Chr8:142873857 [GRCh38]
Chr8:143955273 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1090T>C (p.Leu364=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000401066]|Hyperaldosteronism, familial, type I [RCV000298406]|not provided [RCV000918087] Chr8:142875743 [GRCh38]
Chr8:143957159 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000398709]|Hyperaldosteronism, familial, type I [RCV000339466] Chr8:142879686 [GRCh38]
Chr8:143961102 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*857T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000332454]|Hyperaldosteronism, familial, type I [RCV000363817] Chr8:142873516 [GRCh38]
Chr8:143954932 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*1852T>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000265547]|Hyperaldosteronism, familial, type I [RCV000364820] Chr8:142872521 [GRCh38]
Chr8:143953937 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*694T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000394822]|Hyperaldosteronism, familial, type I [RCV000282385] Chr8:142873679 [GRCh38]
Chr8:143955095 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*1288A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000356205]|Hyperaldosteronism, familial, type I [RCV000320128] Chr8:142873085 [GRCh38]
Chr8:143954501 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.*1770A>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000379863]|Hyperaldosteronism, familial, type I [RCV000320538] Chr8:142872603 [GRCh38]
Chr8:143954019 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.*1590G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000375733]|Hyperaldosteronism, familial, type I [RCV000281238] Chr8:142872783 [GRCh38]
Chr8:143954199 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.*1358T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000260308]|Hyperaldosteronism, familial, type I [RCV000354069] Chr8:142873015 [GRCh38]
Chr8:143954431 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.*485C>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000324878]|Hyperaldosteronism, familial, type I [RCV000264968] Chr8:142873888 [GRCh38]
Chr8:143955304 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.77C>T (p.Thr26Met) single nucleotide variant not provided [RCV000487967] Chr8:142879737 [GRCh38]
Chr8:143961153 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000332351]|Hyperaldosteronism, familial, type I [RCV000389302] Chr8:142875150 [GRCh38]
Chr8:143956566 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.26T>C (p.Val9Ala) single nucleotide variant not specified [RCV000517023] Chr8:142879788 [GRCh38]
Chr8:143961204 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.*495C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000359595]|Hyperaldosteronism, familial, type I [RCV000309572] Chr8:142873878 [GRCh38]
Chr8:143955294 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.*1164G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000381423]|Hyperaldosteronism, familial, type I [RCV000326825] Chr8:142873209 [GRCh38]
Chr8:143954625 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.969G>T (p.Leu323Phe) single nucleotide variant 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_000497.3(CYP11B1):c.835G>A (p.Ala279Thr) single nucleotide variant not provided [RCV000484244] Chr8:142876360 [GRCh38]
Chr8:143957776 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.395+9C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158701]|Hyperaldosteronism, familial, type I [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_000497.3(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_000497.3(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_000497.3(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_000497.3(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_000497.3(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_000497.3(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
uncertain significance
NM_000497.3(CYP11B1):c.385G>A (p.Val129Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673379]|Hyperaldosteronism, familial, type I [RCV001158704] Chr8:142879042 [GRCh38]
Chr8:143960458 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000671118] Chr8:142875306 [GRCh38]
Chr8:143956722 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(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_000497.3(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_000497.3(CYP11B1):c.1112A>G (p.Glu371Gly) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000670290] Chr8:142875721 [GRCh38]
Chr8:143957137 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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_000497.3(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_000497.3(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_000497.3(CYP11B1):c.992C>T (p.Ala331Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667891] Chr8:142875841 [GRCh38]
Chr8:143957257 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(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_000497.3(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_000497.3(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_000497.3(CYP11B1):c.187G>C (p.Asp63His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000668553] Chr8:142879627 [GRCh38]
Chr8:143961043 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000672406] Chr8:142874994 [GRCh38]
Chr8:143956410 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(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_000497.3(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_001026213.1(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_000497.3(CYP11B1):c.372del (p.His125fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000667181] Chr8:142879055 [GRCh38]
Chr8:143960471 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.1486del (p.Leu496fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000667414] Chr8:142874399 [GRCh38]
Chr8:143955815 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1280G>A (p.Arg427His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000670970] Chr8:142875075 [GRCh38]
Chr8:143956491 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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_000497.3(CYP11B1):c.1021C>A (p.Arg341Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000665440] Chr8:142875812 [GRCh38]
Chr8:143957228 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.45G>A (p.Trp15Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000674379] Chr8:142879769 [GRCh38]
Chr8:143961185 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.595+1G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667755]|not provided [RCV000732722] Chr8:142877022 [GRCh38]
Chr8:143958438 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_000497.3(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_000497.3(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_001026213.1(CYP11B1):c.1200+84del deletion Deficiency of steroid 11-beta-monooxygenase [RCV000666356] Chr8:142875150 [GRCh38]
Chr8:143956566 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.412C>T (p.Arg138Cys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000668003] Chr8:142877206 [GRCh38]
Chr8:143958622 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1145T>G (p.Leu382Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673616] Chr8:142875289 [GRCh38]
Chr8:143956705 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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_000497.3(CYP11B1):c.346T>G (p.Trp116Gly) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000668604]|Hyperaldosteronism, familial, type I [RCV001161915] Chr8:142879081 [GRCh38]
Chr8:143960497 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.235T>A (p.Phe79Ile) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000665385] Chr8:142879579 [GRCh38]
Chr8:143960995 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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_000497.3(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_001026213.1(CYP11B1):c.517_519AAG[2] (p.Lys175del) microsatellite Deficiency of steroid 11-beta-monooxygenase [RCV000664716] Chr8:142877093..142877095 [GRCh38]
Chr8:143958509..143958511 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667465]|Deficiency of steroid 11-beta-monooxygenase [RCV000763177] Chr8:142875283 [GRCh38]
Chr8:143956699 [GRCh37]
Chr8:8q24.3
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_000497.3(CYP11B1):c.1328T>C (p.Phe443Ser) single nucleotide variant not provided [RCV000711395] Chr8:142875027 [GRCh38]
Chr8:143956443 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1398+5G>C single nucleotide variant not provided [RCV000711396] Chr8:142874952 [GRCh38]
Chr8:143956368 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1443A>G (p.Ile481Met) single nucleotide variant not provided [RCV000711397] Chr8:142874442 [GRCh38]
Chr8:143955858 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.338T>G (p.Leu113Arg) single nucleotide variant not provided [RCV000711400] Chr8:142879089 [GRCh38]
Chr8:143960505 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.357C>T (p.Tyr119=) single nucleotide variant not provided [RCV000711401] Chr8:142879070 [GRCh38]
Chr8:143960486 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.538G>A (p.Ala180Thr) single nucleotide variant not provided [RCV000711403] Chr8:142877080 [GRCh38]
Chr8:143958496 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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
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.542G>C (p.Arg181Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165420]|Hyperaldosteronism, familial, type I [RCV001165421] Chr8:142877076 [GRCh38]
Chr8:143958492 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000497.4(CYP11B1):c.1200+11C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165191]|Hyperaldosteronism, familial, type I [RCV001165190] Chr8:142875223 [GRCh38]
Chr8:143956639 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165312]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [RCV001158703]|not provided [RCV000877600] 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 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_000497.3(CYP11B1):c.449C>T (p.Ser150Leu) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000779553]|Hyperaldosteronism, familial, type I [RCV001165426] Chr8:142877169 [GRCh38]
Chr8:143958585 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000497.3(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 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 not provided [RCV000874770] Chr8:142876250 [GRCh38]
Chr8:143957666 [GRCh37]
Chr8:8q24.3
benign
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln) single nucleotide variant 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 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 not provided [RCV000874906] Chr8:142875845 [GRCh38]
Chr8:143957261 [GRCh37]
Chr8:8q24.3
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.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 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 not provided [RCV000991869] Chr8:142877142 [GRCh38]
Chr8:143958558 [GRCh37]
Chr8:8q24.3
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]|Hyperaldosteronism, familial, type I [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 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]|Hyperaldosteronism, familial, type I [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] Chr8:142879204..142879205 [GRCh38]
Chr8:143960620..143960621 [GRCh37]
Chr8:8q24.3
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]|Hyperaldosteronism, familial, type I [RCV001158809] 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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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 Hyperaldosteronism, familial, type I [RCV001199201] Chr8:142876715 [GRCh38]
Chr8:143958131 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.1399-14G>A single nucleotide variant Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [RCV001158369] Chr8:142874056 [GRCh38]
Chr8:143955472 [GRCh37]
Chr8:8q24.3
uncertain significance
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 not provided [RCV000875265] 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] 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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [RCV001160056] Chr8:142873759 [GRCh38]
Chr8:143955175 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter) single nucleotide variant 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 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
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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [RCV001161120] Chr8:142872429 [GRCh38]
Chr8:143953845 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) single nucleotide variant not provided [RCV001063066] Chr8:142874997 [GRCh38]
Chr8:143956413 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.4(CYP11B1):c.*1313C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001162780]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [RCV001163110] 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]|Hyperaldosteronism, familial, type I [RCV001163322] Chr8:142877009 [GRCh38]
Chr8:143958425 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161919]|Hyperaldosteronism, familial, type I [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] Chr8:142876926 [GRCh38]
Chr8:143958342 [GRCh37]
Chr8:8q24.3
benign
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) single nucleotide variant 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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [RCV001165425] Chr8:142877168 [GRCh38]
Chr8:143958584 [GRCh37]
Chr8:8q24.3
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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [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]|Hyperaldosteronism, familial, type I [RCV001161808] Chr8:142876849 [GRCh38]
Chr8:143958265 [GRCh37]
Chr8:8q24.3
uncertain significance
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] Chr8:142875012 [GRCh38]
Chr8:143956428 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001290136] Chr8:142876249 [GRCh38]
Chr8:143957665 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs) deletion not provided [RCV001269700] Chr8:142875023..142875030 [GRCh38]
Chr8:143956439..143956446 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.4(CYP11B1):c.199del (p.Glu67fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV001334490] Chr8:142879615 [GRCh38]
Chr8:143961031 [GRCh37]
Chr8:8q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2591 AgrOrtholog
COSMIC CYP11B1 COSMIC
Ensembl Genes ENSG00000160882 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000292427 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366903 UniProtKB/TrEMBL
  ENSP00000428043 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430144 UniProtKB/TrEMBL
Ensembl Transcript ENST00000292427 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377675 UniProtKB/TrEMBL
  ENST00000517471 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519285 UniProtKB/TrEMBL
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160882 GTEx
HGNC ID HGNC:2591 ENTREZGENE
Human Proteome Map CYP11B1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I UniProtKB/TrEMBL
  Cyt_P450_E_grp-IV UniProtKB/TrEMBL
  Cyt_P450_mitochondrial UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1584 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1584 ENTREZGENE
OMIM 103900 OMIM
  202010 OMIM
  610613 OMIM
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA133 PharmGKB
PRINTS EP450I UniProtKB/TrEMBL
  EP450IV UniProtKB/TrEMBL
  MITP450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A9UF29_HUMAN UniProtKB/TrEMBL
  C11B1_HUMAN UniProtKB/Swiss-Prot
  D2KC07_HUMAN UniProtKB/TrEMBL
  H0YBR4_HUMAN UniProtKB/TrEMBL
  P15538 ENTREZGENE
  Q4VAR0_HUMAN UniProtKB/TrEMBL
  Q8TDD0 ENTREZGENE, UniProtKB/TrEMBL
  Q8TE38_HUMAN UniProtKB/TrEMBL
  Q8TE39_HUMAN UniProtKB/TrEMBL
  Q8TE40_HUMAN UniProtKB/TrEMBL
  Q8TE41_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q14095 UniProtKB/Swiss-Prot
  Q4VAQ8 UniProtKB/Swiss-Prot
  Q4VAQ9 UniProtKB/Swiss-Prot
  Q9UML2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP11B1  cytochrome P450 family 11 subfamily B member 1    cytochrome P450, family 11, subfamily B, polypeptide 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 CYP11B1  cytochrome P450, family 11, subfamily B, polypeptide 1  CYP11B1  cytochrome P450, family 11, subfamily B, polypeptide 1  Symbol and/or name change 5135510 APPROVED