NR0B1 (nuclear receptor subfamily 0 group B member 1) - Rat Genome Database

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Gene: NR0B1 (nuclear receptor subfamily 0 group B member 1) Homo sapiens
Analyze
Symbol: NR0B1
Name: nuclear receptor subfamily 0 group B member 1
RGD ID: 1350844
HGNC Page HGNC
Description: Exhibits several functions, including AF-2 domain binding activity; nucleic acid binding activity; and protein homodimerization activity. Involved in several processes, including adrenal gland development; negative regulation of intracellular steroid hormone receptor signaling pathway; and regulation of transcription, DNA-templated. Localizes to several cellular components, including centriolar satellite; nuclear speck; and polysomal ribosome. Implicated in 46,XY sex reversal 2 and X-linked adrenal hypoplasia congenita.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AHC; AHCH; AHX; DAX-1; DAX1; DSS; DSS-AHC critical region on the X chromosome protein 1; GTD; HHG; NROB1; nuclear hormone receptor; nuclear receptor DAX-1; nuclear receptor DAX1; nuclear receptor subfamily 0, group B, member 1; SRXY2; truncated nuclear receptor subfamily 0 group B member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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 EnsemblX30,304,206 - 30,309,390 (-)EnsemblGRCh38hg38GRCh38
GRCh38X30,304,206 - 30,309,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X30,322,323 - 30,327,507 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X30,232,506 - 30,237,413 (-)NCBINCBI36hg18NCBI36
Build 34X30,082,242 - 30,087,149NCBI
CeleraX34,444,104 - 34,449,076 (-)NCBI
Cytogenetic MapXp21.2NCBI
HuRefX28,059,200 - 28,064,172 (-)NCBIHuRef
CHM1_1X30,353,361 - 30,358,333 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
3',5'-cyclic AMP  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
alternariol  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bucladesine  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
calyculin a  (ISO)
cisplatin  (EXP,ISO)
colforsin daropate hydrochloride  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyproterone acetate  (EXP)
dibutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dipentyl phthalate  (ISO)
dorsomorphin  (EXP)
enniatin  (EXP)
etoposide  (ISO)
fenvalerate  (ISO)
GW 4064  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
mycotoxin  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
paracetamol  (EXP)
phenols  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
propanal  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
simvastatin  (ISO)
stigmasterol  (ISO)
T-2 toxin  (EXP)
tamoxifen  (EXP)
testosterone  (ISO)
testosterone enanthate  (ISO)
valproic acid  (EXP,ISO)
verapamil  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal labia morphology  (IAGP)
Abnormal sex determination  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the scrotum  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Adrenal hypoplasia  (IAGP)
Adrenal insufficiency  (IAGP)
Ambiguous genitalia  (IAGP)
Azoospermia  (IAGP)
Clitoral hypertrophy  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating aldosterone level  (IAGP)
Decreased circulating cortisol level  (IAGP)
Decreased fertility in females  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum testosterone level  (IAGP)
Decreased testicular size  (IAGP)
Dehydration  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (IAGP)
Failure to thrive  (IAGP)
Female external genitalia in individual with 46,XY karyotype  (IAGP)
Gonadal dysgenesis  (IAGP)
Gynecomastia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hyponatremia  (IAGP)
Hypoplasia of the vagina  (IAGP)
Hypospadias  (IAGP)
Male hypogonadism  (IAGP)
Male infertility  (IAGP)
Male pseudohermaphroditism  (IAGP)
Micropenis  (IAGP)
Muscular dystrophy  (IAGP)
Nephroblastoma  (IAGP)
Nephrotic syndrome  (IAGP)
Oligospermia  (IAGP)
Osteoporosis  (IAGP)
Ovarian gonadoblastoma  (IAGP)
Polycystic ovaries  (IAGP)
Precocious puberty  (IAGP)
Primary amenorrhea  (IAGP)
Primary gonadal insufficiency  (IAGP)
Renal salt wasting  (IAGP)
Schizophrenia  (IAGP)
Sex reversal  (IAGP)
Sparse axillary hair  (IAGP)
Sparse pubic hair  (IAGP)
Streak ovary  (IAGP)
Testicular dysgenesis  (IAGP)
Testicular gonadoblastoma  (IAGP)
Urogenital sinus anomaly  (IAGP)
Vanishing testis  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1301166   PMID:1505987   PMID:6891556   PMID:7677767   PMID:7951319   PMID:7990953   PMID:7990958   PMID:8593542   PMID:8636263   PMID:8675564   PMID:8855822   PMID:9003500  
PMID:9063431   PMID:9360549   PMID:9384387   PMID:9415399   PMID:9486644   PMID:9529340   PMID:10323730   PMID:10341858   PMID:10361383   PMID:10412368   PMID:10522996   PMID:10599709  
PMID:10675358   PMID:10713076   PMID:10848616   PMID:11053406   PMID:11113848   PMID:11443184   PMID:11459805   PMID:11549627   PMID:11713202   PMID:11738790   PMID:11748852   PMID:11788621  
PMID:11875111   PMID:12034880   PMID:12083815   PMID:12213854   PMID:12213901   PMID:12477932   PMID:12482977   PMID:12519885   PMID:12629128   PMID:12636049   PMID:12727988   PMID:12771131  
PMID:12843196   PMID:14963109   PMID:15044589   PMID:15084237   PMID:15100213   PMID:15379426   PMID:15464421   PMID:15489334   PMID:15589120   PMID:15604093   PMID:15800903   PMID:15841486  
PMID:15879363   PMID:15988384   PMID:16146703   PMID:16206264   PMID:16232195   PMID:16275267   PMID:16355812   PMID:16645015   PMID:16684822   PMID:16709599   PMID:16713569   PMID:16834661  
PMID:17114343   PMID:17308433   PMID:17573657   PMID:17686645   PMID:18038713   PMID:18160712   PMID:18202527   PMID:18381063   PMID:18417736   PMID:18591936   PMID:18819054   PMID:18824868  
PMID:18827407   PMID:18941128   PMID:18984668   PMID:19015525   PMID:19129717   PMID:19188450   PMID:19199243   PMID:19237537   PMID:19274049   PMID:19384854   PMID:19508677   PMID:19528230  
PMID:19596656   PMID:19644015   PMID:19651776   PMID:19672728   PMID:19726747   PMID:19773398   PMID:19920188   PMID:20080977   PMID:20301604   PMID:20301714   PMID:20573681   PMID:21029627  
PMID:21164257   PMID:21227944   PMID:21270512   PMID:21378322   PMID:21632081   PMID:21672607   PMID:21739173   PMID:21775412   PMID:21856289   PMID:21873635   PMID:22456342   PMID:22749036  
PMID:22761912   PMID:22768659   PMID:22843091   PMID:22896671   PMID:23018754   PMID:23378245   PMID:23512386   PMID:23585174   PMID:23824603   PMID:23846226   PMID:24104199   PMID:24531914  
PMID:24668626   PMID:24751136   PMID:25003377   PMID:25079468   PMID:25171651   PMID:25416956   PMID:25910212   PMID:25968435   PMID:25985323   PMID:26168243   PMID:26207377   PMID:27035099  
PMID:27281610   PMID:27803151   PMID:28075027   PMID:28284037   PMID:29497051   PMID:30537713   PMID:30840280   PMID:31030432   PMID:31219797   PMID:32028936   PMID:32166680   PMID:32296183  
PMID:32694731  


Genomics

Comparative Map Data
NR0B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX30,304,206 - 30,309,390 (-)EnsemblGRCh38hg38GRCh38
GRCh38X30,304,206 - 30,309,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X30,322,323 - 30,327,507 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X30,232,506 - 30,237,413 (-)NCBINCBI36hg18NCBI36
Build 34X30,082,242 - 30,087,149NCBI
CeleraX34,444,104 - 34,449,076 (-)NCBI
Cytogenetic MapXp21.2NCBI
HuRefX28,059,200 - 28,064,172 (-)NCBIHuRef
CHM1_1X30,353,361 - 30,358,333 (-)NCBICHM1_1
Nr0b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X85,235,381 - 85,239,553 (+)NCBIGRCm39mm39
GRCm39 EnsemblX85,235,370 - 85,239,553 (+)Ensembl
GRCm38X86,191,775 - 86,195,947 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX86,191,764 - 86,195,947 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X83,437,114 - 83,441,283 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X82,444,494 - 82,448,663 (+)NCBImm8
CeleraX77,386,142 - 77,390,314 (+)NCBICelera
Cytogenetic MapXC1NCBI
cM MapX39.67NCBI
Nr0b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X50,756,886 - 50,761,014 (+)NCBI
Rnor_6.0 EnsemblX54,734,385 - 54,738,513 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X54,734,385 - 54,738,513 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X54,937,819 - 54,941,947 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X73,006,294 - 73,010,422 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X73,079,585 - 73,083,711 (+)NCBI
CeleraX51,292,676 - 51,296,804 (+)NCBICelera
Cytogenetic MapXq21NCBI
Nr0b1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955531567,173 - 572,331 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955531567,491 - 572,329 (+)NCBIChiLan1.0ChiLan1.0
NR0B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X30,459,527 - 30,464,652 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX30,459,527 - 30,464,652 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X22,903,403 - 22,908,527 (-)NCBIMhudiblu_PPA_v0panPan3
NR0B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X25,396,527 - 25,401,587 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX25,396,527 - 25,401,715 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX30,371,048 - 30,375,977 (-)NCBI
Nr0b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X18,343,850 - 18,347,995 (-)NCBI
SpeTri2.0NW_0049365536,436,371 - 6,440,141 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NR0B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX26,117,868 - 26,122,995 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X26,117,874 - 26,122,951 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X28,384,122 - 28,389,200 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig CytomapXp24NCBI
NR0B1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X28,707,698 - 28,713,158 (-)NCBI
ChlSab1.1 EnsemblX28,707,699 - 28,712,708 (-)Ensembl
Nr0b1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476225,759,976 - 25,769,543 (+)NCBI

Position Markers
RH80290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,322,474 - 30,322,669UniSTSGRCh37
Build 36X30,232,395 - 30,232,590RGDNCBI36
CeleraX34,444,039 - 34,444,234RGD
Cytogenetic MapXp21.3UniSTS
HuRefX28,059,135 - 28,059,330UniSTS
GeneMap99-GB4 RH MapX105.73UniSTS
GDB:555626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,326,527 - 30,327,515UniSTSGRCh37
Build 36X30,236,448 - 30,237,436RGDNCBI36
CeleraX34,448,108 - 34,449,096RGD
Cytogenetic MapXp21.3UniSTS
HuRefX28,063,204 - 28,064,192UniSTS
GDB:555633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,326,812 - 30,327,200UniSTSGRCh37
Build 36X30,236,733 - 30,237,121RGDNCBI36
CeleraX34,448,393 - 34,448,781RGD
Cytogenetic MapXp21.3UniSTS
HuRefX28,063,489 - 28,063,877UniSTS
GDB:555638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,326,667 - 30,326,826UniSTSGRCh37
Build 36X30,236,588 - 30,236,747RGDNCBI36
CeleraX34,448,248 - 34,448,407RGD
Cytogenetic MapXp21.3UniSTS
HuRefX28,063,344 - 28,063,503UniSTS
NR0B1_2627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,322,277 - 30,322,967UniSTSGRCh37
Build 36X30,232,198 - 30,232,888RGDNCBI36
CeleraX34,443,842 - 34,444,532RGD
HuRefX28,058,938 - 28,059,628UniSTS
NR0B1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,326,650 - 30,327,056UniSTSGRCh37
CeleraX34,448,231 - 34,448,637UniSTS
HuRefX28,063,327 - 28,063,733UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:391
Count of miRNA genes:234
Interacting mature miRNAs:243
Transcripts:ENST00000378963, ENST00000378970, ENST00000453287
Prediction methods:Miranda, Pita, 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 2
Medium 252 5 1 7 12 18 21 16 420 77 1
Low 65 107 304 28 23 17 469 20 2282 30 367 76 11 209 168
Below cutoff 1526 1026 384 212 486 90 2213 959 1288 120 313 532 124 771 1330

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000378963   ⟹   ENSP00000368246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,305,674 - 30,308,488 (-)Ensembl
RefSeq Acc Id: ENST00000378970   ⟹   ENSP00000368253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,304,206 - 30,309,390 (-)Ensembl
RefSeq Acc Id: NM_000475   ⟹   NP_000466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,304,206 - 30,309,390 (-)NCBI
GRCh37X30,322,539 - 30,327,495 (-)ENTREZGENE
Build 36X30,232,506 - 30,237,413 (-)NCBI Archive
HuRefX28,059,200 - 28,064,172 (-)ENTREZGENE
CHM1_1X30,353,361 - 30,358,333 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000466   ⟸   NM_000475
- UniProtKB: P51843 (UniProtKB/Swiss-Prot),   F1D8P4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000368246   ⟸   ENST00000378963
RefSeq Acc Id: ENSP00000368253   ⟸   ENST00000378970
Protein Domains
NR LBD

Promoters
RGD ID:13604980
Promoter ID:EPDNEW_H28674
Type:multiple initiation site
Name:NR0B1_1
Description:nuclear receptor subfamily 0 group B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28675  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,309,390 - 30,309,450EPDNEW
RGD ID:13604982
Promoter ID:EPDNEW_H28675
Type:initiation region
Name:NR0B1_2
Description:nuclear receptor subfamily 0 group B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28674  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,309,528 - 30,309,588EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000475.5(NR0B1):c.1354A>T (p.Ile452Phe) single nucleotide variant not provided [RCV000722431] ChrX:30304638 [GRCh38]
ChrX:30322755 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000030343] ChrX:30308270 [GRCh38]
ChrX:30326387 [GRCh37]
ChrX:Xp21.2
likely pathogenic
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000030344] ChrX:30308223 [GRCh38]
ChrX:30326340 [GRCh37]
ChrX:Xp21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) indel not provided [RCV000722833] ChrX:30309056..30309057 [GRCh38]
ChrX:30327173..30327174 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011696] ChrX:30308517 [GRCh38]
ChrX:30326634 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011697] ChrX:30308257 [GRCh38]
ChrX:30326374 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011698] ChrX:30308576 [GRCh38]
ChrX:30326693 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011699] ChrX:30308564 [GRCh38]
ChrX:30326681 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011700] ChrX:30308660 [GRCh38]
ChrX:30326777 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011701] ChrX:30308851 [GRCh38]
ChrX:30326968 [GRCh37]
ChrX:Xp21.2
pathogenic
NR0B1, 1-BP DEL deletion Congenital adrenal hypoplasia, X-linked [RCV000011702] ChrX:Xp21.3-p21.2 pathogenic
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011703]|not provided [RCV000413730] ChrX:30309091 [GRCh38]
ChrX:30327208 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011704] ChrX:30304673 [GRCh38]
ChrX:30322790 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011705]|not provided [RCV000481802] ChrX:30304809 [GRCh38]
ChrX:30322926 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011706] ChrX:30308551 [GRCh38]
ChrX:30326668 [GRCh37]
ChrX:Xp21.2
pathogenic
NR0B1, 2-BP DEL, 1610AG, AND 1-BP INS indel Congenital adrenal hypoplasia, X-linked [RCV000011707] ChrX:Xp21.3-p21.2 pathogenic
NR0B1, 1-BP DEL, 1169C deletion Congenital adrenal hypoplasia, X-linked [RCV000011708] ChrX:Xp21.3-p21.2 pathogenic
NR0B1, DUP duplication 46,XY sex reversal, type 2 [RCV000011709] ChrX:Xp21.3-p21.2 pathogenic
NR0B1, 2-BP DEL, 388AG deletion Congenital adrenal hypoplasia, X-linked [RCV000011710] ChrX:Xp21.3-p21.2 pathogenic
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011711] ChrX:30308218 [GRCh38]
ChrX:30326335 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011712] ChrX:30308491 [GRCh38]
ChrX:30326608 [GRCh37]
ChrX:Xp21.2
pathogenic
NR0B1, DEL deletion Congenital adrenal hypoplasia, X-linked [RCV000011713] ChrX:Xp21.3-p21.2 pathogenic
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) deletion Congenital adrenal hypoplasia, X-linked [RCV000011714] ChrX:30304758..30304761 [GRCh38]
ChrX:30322875..30322878 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011715] ChrX:30308773 [GRCh38]
ChrX:30326890 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011716] ChrX:30304676 [GRCh38]
ChrX:30322793 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.501del (p.Gly169fs) deletion Congenital adrenal hypoplasia, X-linked [RCV000011717] ChrX:30308863 [GRCh38]
ChrX:30326980 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011718] ChrX:30308222 [GRCh38]
ChrX:30326339 [GRCh37]
ChrX:Xp21.2
pathogenic
NR0B1, 1-BP INS, 430G insertion Congenital adrenal hypoplasia, X-linked [RCV000011719] ChrX:Xp21.3-p21.2 pathogenic
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011720] ChrX:30308226 [GRCh38]
ChrX:30326343 [GRCh37]
ChrX:Xp21.2
pathogenic
NR0B1, 2.2-KB DEL/27-BP INS indel Congenital adrenal hypoplasia, X-linked [RCV000011721] ChrX:Xp21.3-p21.2 pathogenic
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011722] ChrX:30304795 [GRCh38]
ChrX:30322912 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011723] ChrX:30308474 [GRCh38]
ChrX:30326591 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000011724] ChrX:30309255 [GRCh38]
ChrX:30327372 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) single nucleotide variant Mineralocorticoid deficiency, isolated [RCV000011725] ChrX:30309049 [GRCh38]
ChrX:30327166 [GRCh37]
ChrX:Xp21.2
pathogenic|uncertain significance
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000049288] ChrX:30304718 [GRCh38]
ChrX:30322835 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0 copy number loss See cases [RCV000136548] ChrX:30093911..34060667 [GRCh38]
ChrX:30112028..34078784 [GRCh37]
ChrX:30021949..33988705 [NCBI36]
ChrX:Xp21.2-21.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp21.2(chrX:29601718-30322946)x3 copy number gain See cases [RCV000138204] ChrX:29601718..30322946 [GRCh38]
ChrX:29619835..30341063 [GRCh37]
ChrX:29529756..30250984 [NCBI36]
ChrX:Xp21.2
likely pathogenic|likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3 copy number gain See cases [RCV000138078] ChrX:28234352..37850186 [GRCh38]
ChrX:28252469..37709439 [GRCh37]
ChrX:28162390..37594383 [NCBI36]
ChrX:Xp21.3-11.4
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp21.2(chrX:30303676-30307893)x1 copy number loss See cases [RCV000140270] ChrX:30303676..30307893 [GRCh38]
ChrX:30321793..30326010 [GRCh37]
ChrX:30231714..30235931 [NCBI36]
ChrX:Xp21.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.2(chrX:30303940-30322946)x2 copy number gain See cases [RCV000139718] ChrX:30303940..30322946 [GRCh38]
ChrX:30322057..30341063 [GRCh37]
ChrX:30231978..30250984 [NCBI36]
ChrX:Xp21.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.2(chrX:30027017-30322887)x0 copy number loss See cases [RCV000141381] ChrX:30027017..30322887 [GRCh38]
ChrX:30045134..30341004 [GRCh37]
ChrX:29955055..30250925 [NCBI36]
ChrX:Xp21.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3 copy number gain See cases [RCV000143685] ChrX:28218244..37855706 [GRCh38]
ChrX:28236361..37714959 [GRCh37]
ChrX:28146282..37599903 [NCBI36]
ChrX:Xp21.3-11.4
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000475.5(NR0B1):c.552del (p.Glu185fs) deletion Congenital adrenal hypoplasia, X-linked [RCV000550678] ChrX:30308812 [GRCh38]
ChrX:30326929 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1168+1_1168+20del deletion Congenital adrenal hypoplasia, X-linked [RCV000582454] ChrX:30308176..30308195 [GRCh38]
ChrX:30326293..30326312 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000475.5(NR0B1):c.463_467delinsTGAGCTCCG (p.Gln155_Thr156delinsTer) indel not provided [RCV000516185] ChrX:30308897..30308901 [GRCh38]
ChrX:30327014..30327018 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000239459] ChrX:30309248 [GRCh38]
ChrX:30327365 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) single nucleotide variant not provided [RCV000712443]|not specified [RCV000253669] ChrX:30309250 [GRCh38]
ChrX:30327367 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) single nucleotide variant not provided [RCV000712444]|not specified [RCV000245484] ChrX:30308866 [GRCh38]
ChrX:30326983 [GRCh37]
ChrX:Xp21.2
benign
NM_000475.5(NR0B1):c.1301del (p.Phe434fs) deletion not provided [RCV000260370] ChrX:30304691 [GRCh38]
ChrX:30322808 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000490511]|Congenital adrenal hypoplasia, X-linked [RCV000864291]|not specified [RCV000614813] ChrX:30308988 [GRCh38]
ChrX:30327105 [GRCh37]
ChrX:Xp21.2
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000475.5(NR0B1):c.348_388delinsAGAA (p.Arg117fs) indel not provided [RCV000490136] ChrX:30308976..30309016 [GRCh38]
ChrX:30327093..30327133 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1362_1363CA[1] (p.Thr455fs) microsatellite Congenital adrenal hypoplasia, X-linked [RCV000584295] ChrX:30304627..30304628 [GRCh38]
ChrX:30322744..30322745 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000584385]|Congenital adrenal hypoplasia, X-linked [RCV000635250] ChrX:30308222 [GRCh38]
ChrX:30326339 [GRCh37]
ChrX:Xp21.2
pathogenic|uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000475.5(NR0B1):c.277del (p.Ala93fs) deletion Congenital adrenal hypoplasia, X-linked [RCV000581188] ChrX:30309087 [GRCh38]
ChrX:30327204 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000583015] ChrX:30308558 [GRCh38]
ChrX:30326675 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs) insertion Congenital adrenal hypoplasia, X-linked [RCV000583156] ChrX:30308240..30308241 [GRCh38]
ChrX:30326357..30326358 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.548del (p.Gly183fs) deletion not provided [RCV000599390] ChrX:30308816 [GRCh38]
ChrX:30326933 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000583254] ChrX:30304652 [GRCh38]
ChrX:30322769 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.754del (p.Gln252fs) deletion Congenital adrenal hypoplasia, X-linked [RCV000581750] ChrX:30308610 [GRCh38]
ChrX:30326727 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000581862] ChrX:30308412 [GRCh38]
ChrX:30326529 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) indel not provided [RCV000722454] ChrX:30308770..30308771 [GRCh38]
ChrX:30326887..30326888 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_000475.5(NR0B1):c.580del (p.Ala194fs) deletion not provided [RCV000413027] ChrX:30308784 [GRCh38]
ChrX:30326901 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000540337] ChrX:30308848 [GRCh38]
ChrX:30326965 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) single nucleotide variant not provided [RCV000871426]|not specified [RCV000439694] ChrX:30309348 [GRCh38]
ChrX:30327465 [GRCh37]
ChrX:Xp21.2
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.2(chrX:30326814-30327501)x2 copy number gain See cases [RCV000448090] ChrX:30326814..30327501 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000475.5(NR0B1):c.745_746del (p.Lys249fs) deletion not provided [RCV000479228] ChrX:30308618..30308619 [GRCh38]
ChrX:30326735..30326736 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000462560] ChrX:30308516 [GRCh38]
ChrX:30326633 [GRCh37]
ChrX:Xp21.2
likely pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) single nucleotide variant not specified [RCV000504078] ChrX:30304627 [GRCh38]
ChrX:30322744 [GRCh37]
ChrX:Xp21.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000584087]|Congenital adrenal hypoplasia, X-linked [RCV000763207]|not provided [RCV000493558] ChrX:30308656 [GRCh38]
ChrX:30326773 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000528817] ChrX:30308463 [GRCh38]
ChrX:30326580 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_000475.5(NR0B1):c.652dup (p.Thr218fs) duplication Congenital adrenal hypoplasia, X-linked [RCV000512669] ChrX:30308711..30308712 [GRCh38]
ChrX:30326828..30326829 [GRCh37]
ChrX:Xp21.2
pathogenic
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del deletion Congenital adrenal hypoplasia, X-linked [RCV000512729] ChrX:28753427..31819902 [GRCh38]
ChrX:28771544..31838019 [GRCh37]
ChrX:Xp21.3-21.1
pathogenic
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs) insertion Congenital adrenal hypoplasia, X-linked [RCV000512757] ChrX:30308818..30308819 [GRCh38]
ChrX:30326935..30326936 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000512779] ChrX:30308492 [GRCh38]
ChrX:30326609 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1169-1G>A single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000512813] ChrX:30304824 [GRCh38]
ChrX:30322941 [GRCh37]
ChrX:Xp21.2
pathogenic
NC_000023.11:g.(?_30304579)_(30309363_?)del deletion Congenital adrenal hypoplasia, X-linked [RCV000512827] ChrX:30304579..30309363 [GRCh38]
ChrX:30322696..30327480 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000512882] ChrX:30309037 [GRCh38]
ChrX:30327154 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000512986] ChrX:30308599 [GRCh38]
ChrX:30326716 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000513001] ChrX:30308542 [GRCh38]
ChrX:30326659 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000513037] ChrX:30309049 [GRCh38]
ChrX:30327166 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.543del (p.Gly183fs) deletion Congenital adrenal hypoplasia, X-linked [RCV000513071] ChrX:30308821 [GRCh38]
ChrX:30326938 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs) deletion Congenital adrenal hypoplasia, X-linked [RCV000513078] ChrX:30308812..30308813 [GRCh38]
ChrX:30326929..30326930 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1169-112_*17delinsTG indel Congenital adrenal hypoplasia, X-linked [RCV000513110] ChrX:30304562..30304935 [GRCh38]
ChrX:30322679..30323052 [GRCh37]
ChrX:Xp21.2
pathogenic
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del deletion Congenital adrenal hypoplasia, X-linked [RCV000513148] ChrX:29955053..30309388 [GRCh38]
ChrX:29973170..30327505 [GRCh37]
ChrX:Xp21.3-21.2
pathogenic
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000513186] ChrX:30308493 [GRCh38]
ChrX:30326610 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.0_1168+260del deletion Congenital adrenal hypoplasia, X-linked [RCV000513227] ChrX:30307936..30311263 [GRCh38]
ChrX:30326053..30329380 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer) duplication Congenital adrenal hypoplasia, X-linked [RCV000513366] ChrX:30308815..30308816 [GRCh38]
ChrX:30326932..30326933 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs) indel Congenital adrenal hypoplasia, X-linked [RCV000513408] ChrX:30308710..30308726 [GRCh38]
ChrX:30326827..30326843 [GRCh37]
ChrX:Xp21.2
pathogenic
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del deletion Congenital adrenal hypoplasia, X-linked [RCV000513432] ChrX:30064519..31178619 [GRCh38]
ChrX:30082636..31196736 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000513478] ChrX:30308849 [GRCh38]
ChrX:30326966 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer) deletion Congenital adrenal hypoplasia, X-linked [RCV000513523] ChrX:30304757..30304758 [GRCh38]
ChrX:30322874..30322875 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000513598] ChrX:30308591 [GRCh38]
ChrX:30326708 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000513603] ChrX:30308520 [GRCh38]
ChrX:30326637 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.11-21.1(chrX:24650157-31844543)x2 copy number gain not provided [RCV000684294] ChrX:24650157..31844543 [GRCh37]
ChrX:Xp22.11-21.1
pathogenic
NM_000475.5(NR0B1):c.625C>T (p.Gln209Ter) single nucleotide variant not provided [RCV000712446] ChrX:30308739 [GRCh38]
ChrX:30326856 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.99del (p.Leu34fs) deletion not provided [RCV000712447] ChrX:30309265 [GRCh38]
ChrX:30327382 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000722070]|Congenital adrenal hypoplasia, X-linked [RCV000797777] ChrX:30308445 [GRCh38]
ChrX:30326562 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.1267del (p.His423fs) deletion Congenital adrenal hypoplasia, X-linked [RCV000714749] ChrX:30304725 [GRCh38]
ChrX:30322842 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.542_557del (p.Pro181fs) deletion not provided [RCV000712445] ChrX:30308807..30308822 [GRCh38]
ChrX:30326924..30326939 [GRCh37]
ChrX:Xp21.2
likely pathogenic
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000703137] ChrX:30308836 [GRCh38]
ChrX:30326953 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) single nucleotide variant not provided [RCV000960412] ChrX:30309212 [GRCh38]
ChrX:30327329 [GRCh37]
ChrX:Xp21.2
benign
NM_000475.5(NR0B1):c.851_856TGGTGC[1] (p.284_285LV[1]) microsatellite Congenital adrenal hypoplasia, X-linked [RCV000761451] ChrX:30308502..30308507 [GRCh38]
ChrX:30326619..30326624 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) single nucleotide variant not provided [RCV000945344] ChrX:30308764 [GRCh38]
ChrX:30326881 [GRCh37]
ChrX:Xp21.2
benign
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) single nucleotide variant not provided [RCV000876360] ChrX:30308494 [GRCh38]
ChrX:30326611 [GRCh37]
ChrX:Xp21.2
benign
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000945535] ChrX:30308985 [GRCh38]
ChrX:30327102 [GRCh37]
ChrX:Xp21.2
benign
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) deletion Congenital adrenal hypoplasia, X-linked [RCV001037323] ChrX:30308322 [GRCh38]
ChrX:30326439 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) duplication Congenital adrenal hypoplasia, X-linked [RCV001058717] ChrX:30309204..30309205 [GRCh38]
ChrX:30327321..30327322 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) single nucleotide variant not provided [RCV000966276] ChrX:30309142 [GRCh38]
ChrX:30327259 [GRCh37]
ChrX:Xp21.2
likely benign
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV000872882] ChrX:30308335 [GRCh38]
ChrX:30326452 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
Single allele deletion Chromosome Xp21 deletion syndrome [RCV000845038] ChrX:27346252..33328836 [GRCh37]
ChrX:Xp21.3-21.1
not provided
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NC_000023.11:g.(?_30304559)_(30309383_?)dup duplication Congenital adrenal hypoplasia, X-linked [RCV001031913] ChrX:30322676..30327500 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000475.5(NR0B1):c.90A>G (p.Pro30=) single nucleotide variant not provided [RCV000910577] ChrX:30309274 [GRCh38]
ChrX:30327391 [GRCh37]
ChrX:Xp21.2
likely benign
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) single nucleotide variant not provided [RCV000954333] ChrX:30308819 [GRCh38]
ChrX:30326936 [GRCh37]
ChrX:Xp21.2
benign
NM_000475.5(NR0B1):c.423G>A (p.Arg141=) single nucleotide variant not provided [RCV000896696] ChrX:30308941 [GRCh38]
ChrX:30327058 [GRCh37]
ChrX:Xp21.2
likely benign
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) single nucleotide variant not provided [RCV000872956] ChrX:30308776 [GRCh38]
ChrX:30326893 [GRCh37]
ChrX:Xp21.2
benign
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) single nucleotide variant not provided [RCV000877054] ChrX:30308371 [GRCh38]
ChrX:30326488 [GRCh37]
ChrX:Xp21.2
benign
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV001060092] ChrX:30309209 [GRCh38]
ChrX:30327326 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV001236051] ChrX:30308579 [GRCh38]
ChrX:30326696 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.3-21.1(chrX:28309706-31853992)x1 copy number loss not provided [RCV001259445] ChrX:28309706..31853992 [GRCh37]
ChrX:Xp21.3-21.1
pathogenic
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln) single nucleotide variant Congenital adrenal hypoplasia, X-linked [RCV001257092] ChrX:30304581 [GRCh38]
ChrX:30322698 [GRCh37]
ChrX:Xp21.2
likely pathogenic
NM_000475.5(NR0B1):c.1006dup (p.Val336fs) duplication Congenital adrenal hypoplasia, X-linked [RCV001260902] ChrX:30308357..30308358 [GRCh38]
ChrX:30326474..30326475 [GRCh37]
ChrX:Xp21.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000475.5(NR0B1):c.986_987delinsA (p.Gly329fs) indel not provided [RCV001288260] ChrX:30308377..30308378 [GRCh38]
ChrX:30326494..30326495 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.998_1001dup (p.Pro335fs) duplication not provided [RCV001288261] ChrX:30308362..30308363 [GRCh38]
ChrX:30326479..30326480 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000475.5(NR0B1):c.215_218dup (p.His73fs) duplication Congenital adrenal hypoplasia, X-linked [RCV001270620] ChrX:30309145..30309146 [GRCh38]
ChrX:30327262..30327263 [GRCh37]
ChrX:Xp21.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7960 AgrOrtholog
COSMIC NR0B1 COSMIC
Ensembl Genes ENSG00000169297 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000368246 UniProtKB/TrEMBL
  ENSP00000368253 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378963 UniProtKB/TrEMBL
  ENST00000378970 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169297 GTEx
HGNC ID HGNC:7960 ENTREZGENE
Human Proteome Map NR0B1 Human Proteome Map
InterPro NHR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NR0B1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucl_hrmn_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_receptor_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 190 ENTREZGENE
OMIM 300018 OMIM
  300200 OMIM
  300473 OMIM
PANTHER PTHR24081 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NR_Repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31746 PharmGKB
PRINTS STRDHORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NR_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A218PFR0_HUMAN UniProtKB/TrEMBL
  A6NNU8_HUMAN UniProtKB/TrEMBL
  F1D8P4 ENTREZGENE, UniProtKB/TrEMBL
  NR0B1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96F69 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NR0B1  nuclear receptor subfamily 0 group B member 1  NR0B1  nuclear receptor subfamily 0, group B, member 1  Symbol and/or name change 5135510 APPROVED