ANOS1 (anosmin 1) - Rat Genome Database

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Gene: ANOS1 (anosmin 1) Homo sapiens
Analyze
Symbol: ANOS1
Name: anosmin 1
RGD ID: 1350490
HGNC Page HGNC
Description: Predicted to be an extracellular matrix structural constituent. Predicted to be involved in neuron differentiation. Predicted to localize to cell surface. Implicated in hypogonadotropic hypogonadism 1 with or without anosmia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adhesion molecule-like X-linked; ADMLX; anosmin-1; HH1; HHA; KAL; KAL1; KALIG-1; Kallmann syndrome 1 sequence; Kallmann syndrome interval gene 1; kallmann syndrome protein; Kallmann syndrome-1 sequence (anosmin-1); KMS; WAP four-disulfide core domain 19; WFDC19
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ANOS2P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX8,528,874 - 8,732,137 (-)EnsemblGRCh38hg38GRCh38
GRCh38X8,528,874 - 8,732,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X8,496,915 - 8,700,178 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X8,456,915 - 8,660,227 (-)NCBINCBI36hg18NCBI36
Build 34X8,306,650 - 8,509,963NCBI
CeleraX12,674,609 - 12,877,889 (-)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX6,324,418 - 6,527,699 (-)NCBIHuRef
CHM1_1X8,527,798 - 8,731,484 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal morphology of female internal genitalia  (IAGP)
Abnormality of body height  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the voice  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anxiety  (IAGP)
Ataxia  (IAGP)
Azoospermia  (IAGP)
Bimanual synkinesia  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Cleft palate  (IAGP)
Color vision defect  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating follicle stimulating hormone level  (IAGP)
Decreased circulating luteinizing hormone level  (IAGP)
Decreased fertility  (IAGP)
Decreased serum testosterone level  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depressivity  (IAGP)
Dysarthria  (IAGP)
Dyspareunia  (IAGP)
Erectile dysfunction  (IAGP)
Eunuchoid habitus  (IAGP)
Facial asymmetry  (IAGP)
Female hypogonadism  (IAGP)
Gait disturbance  (IAGP)
Generalized joint laxity  (IAGP)
Gynecomastia  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hyposmia  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Impotence  (IAGP)
Increased female libido  (IAGP)
Leydig cell insensitivity to gonadotropin  (IAGP)
Male hypogonadism  (IAGP)
Micropenis  (IAGP)
Muscle weakness  (IAGP)
Non-obstructive azoospermia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Olfactory lobe agenesis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Paraplegia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Primary amenorrhea  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced number of teeth  (IAGP)
Renal agenesis  (IAGP)
Schizophrenia  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal dysplasia  (IAGP)
Sparse body hair  (IAGP)
Sparse pubic hair  (IAGP)
Testicular atrophy  (IAGP)
Tremor  (IAGP)
Unilateral renal agenesis  (IAGP)
Visual impairment  (IAGP)
Wide intermamillary distance  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1302031   PMID:1303284   PMID:1913827   PMID:1922361   PMID:1977309   PMID:7590336   PMID:8504298   PMID:8832397   PMID:8842728   PMID:8989261   PMID:9589672   PMID:9713559  
PMID:10591208   PMID:11297579   PMID:11463336   PMID:12050219   PMID:12477932   PMID:12627230   PMID:15001591   PMID:15004876   PMID:15146197   PMID:15324302   PMID:15471890   PMID:15548653  
PMID:15605412   PMID:15636431   PMID:15949815   PMID:16344560   PMID:16876430   PMID:17054399   PMID:17213338   PMID:17223984   PMID:17603054   PMID:18160472   PMID:18463157   PMID:18682503  
PMID:18723471   PMID:19696444   PMID:19734936   PMID:19844165   PMID:20219326   PMID:20301509   PMID:20362962   PMID:20530987   PMID:20734064   PMID:20874775   PMID:21351529   PMID:21497178  
PMID:21682876   PMID:21717404   PMID:21873635   PMID:22016523   PMID:22801565   PMID:22939629   PMID:23189990   PMID:23357298   PMID:23410897   PMID:23533228   PMID:23721716   PMID:24002956  
PMID:24189182   PMID:24232061   PMID:24732674   PMID:25060050   PMID:25300141   PMID:25300351   PMID:25662897   PMID:25726327   PMID:25892360   PMID:26051373   PMID:26278626   PMID:26375424  
PMID:27184500   PMID:27899353   PMID:28122887   PMID:28780519   PMID:28854193   PMID:29211946   PMID:29222041   PMID:29507755   PMID:31377880   PMID:31669640   PMID:32296183  


Genomics

Comparative Map Data
ANOS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX8,528,874 - 8,732,137 (-)EnsemblGRCh38hg38GRCh38
GRCh38X8,528,874 - 8,732,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X8,496,915 - 8,700,178 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X8,456,915 - 8,660,227 (-)NCBINCBI36hg18NCBI36
Build 34X8,306,650 - 8,509,963NCBI
CeleraX12,674,609 - 12,877,889 (-)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX6,324,418 - 6,527,699 (-)NCBIHuRef
CHM1_1X8,527,798 - 8,731,484 (-)NCBICHM1_1
Wfdc17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391183,594,882 - 83,597,095 (+)NCBIGRCm39mm39
GRCm39 Ensembl1183,594,817 - 83,597,094 (+)Ensembl
GRCm381183,704,056 - 83,706,269 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1183,703,991 - 83,706,268 (+)EnsemblGRCm38mm10GRCm38
MGSCv371183,517,558 - 83,519,771 (+)NCBIGRCm37mm9NCBIm37
MGSCv361183,517,558 - 83,519,771 (+)NCBImm8
Celera1193,308,603 - 93,310,817 (+)NCBICelera
Cytogenetic Map11CNCBI
Anos1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21068,561,954 - 68,562,801 (+)NCBI
Rnor_6.0 Ensembl1070,999,780 - 71,000,627 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01071,184,154 - 71,185,001 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41071,861,031 - 71,861,878 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1067,496,704 - 67,498,775 (+)NCBICelera
Cytogenetic Map10 NCBI
Anos1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554996,486,682 - 6,687,484 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554996,486,287 - 6,686,739 (-)NCBIChiLan1.0ChiLan1.0
ANOS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X8,396,742 - 8,594,270 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX8,396,290 - 8,598,406 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X1,035,112 - 1,235,112 (-)NCBIMhudiblu_PPA_v0panPan3
ANOS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X5,413,958 - 5,601,663 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX5,415,575 - 5,762,656 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX5,367,752 - 5,554,283 (-)NCBI
ROS_Cfam_1.0X5,352,344 - 5,540,023 (-)NCBI
UMICH_Zoey_3.1X5,349,001 - 5,536,136 (-)NCBI
UNSW_CanFamBas_1.0X5,380,797 - 5,570,226 (-)NCBI
UU_Cfam_GSD_1.0X5,373,980 - 5,560,664 (-)NCBI
Anos1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049533,537,020 - 3,681,666 (-)NCBI
SpeTri2.0NW_004936644722,849 - 839,723 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANOS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X5,163,638 - 5,363,835 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1Y3,807,032 - 4,014,112 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X5,365,573 - 5,562,552 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANOS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X7,012,410 - 7,223,223 (-)NCBI
Anos1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248346,125,737 - 6,303,205 (-)NCBI

Position Markers
RH38682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,029,488 - 16,029,649UniSTSGRCh37
GRCh37X8,499,092 - 8,499,253UniSTSGRCh37
Build 36X8,459,092 - 8,459,253RGDNCBI36
CeleraX3,009,343 - 3,009,504UniSTS
CeleraX12,676,786 - 12,676,947RGD
Cytogenetic MapXp22.32UniSTS
HuRefY10,673,577 - 10,673,738UniSTS
HuRefX6,326,595 - 6,326,756UniSTS
GDB:293973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,591,651 - 8,591,710UniSTSGRCh37
Build 36X8,551,651 - 8,551,710RGDNCBI36
CeleraX12,769,415 - 12,769,474RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,419,166 - 6,419,225UniSTS
GDB:293971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,521,945 - 8,522,063UniSTSGRCh37
Build 36X8,481,945 - 8,482,063RGDNCBI36
CeleraX12,699,645 - 12,699,763RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,349,455 - 6,349,573UniSTS
G42691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,701,902 - 8,701,999UniSTSGRCh37
Build 36X8,661,902 - 8,661,999RGDNCBI36
CeleraX12,879,564 - 12,879,661RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,529,374 - 6,529,471UniSTS
DXS1090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,027,824 - 16,028,034UniSTSGRCh37
GRCh37X8,500,706 - 8,500,916UniSTSGRCh37
Build 36X8,460,706 - 8,460,916RGDNCBI36
CeleraX3,007,679 - 3,007,889UniSTS
CeleraX12,678,400 - 12,678,610RGD
Cytogenetic MapXp22.32UniSTS
HuRefY10,671,913 - 10,672,123UniSTS
HuRefX6,328,208 - 6,328,418UniSTS
DXS1091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,500,831 - 8,500,987UniSTSGRCh37
Build 36X8,460,831 - 8,460,987RGDNCBI36
CeleraX12,678,525 - 12,678,681RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,328,333 - 6,328,489UniSTS
GDB:679268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,699,827 - 8,700,171UniSTSGRCh37
Build 36X8,659,827 - 8,660,171RGDNCBI36
CeleraX12,877,489 - 12,877,833RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,527,299 - 6,527,643UniSTS
GDB:679271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,667,654 - 8,667,783UniSTSGRCh37
Build 36X8,627,654 - 8,627,783RGDNCBI36
CeleraX12,845,422 - 12,845,551RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,495,156 - 6,495,285UniSTS
SHGC-172120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,547,010 - 8,547,300UniSTSGRCh37
Build 36X8,507,010 - 8,507,300RGDNCBI36
CeleraX12,724,714 - 12,725,004RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,374,595 - 6,374,885UniSTS
TNG Radiation Hybrid MapX1748.0UniSTS
KAL1_177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,496,763 - 8,497,576UniSTSGRCh37
Build 36X8,456,763 - 8,457,576RGDNCBI36
CeleraX12,674,457 - 12,675,270RGD
HuRefX6,324,266 - 6,325,079UniSTS
DXS7714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,678,622 - 8,678,701UniSTSGRCh37
Build 36X8,638,622 - 8,638,701RGDNCBI36
CeleraX12,856,390 - 12,856,469RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,506,124 - 6,506,203UniSTS
DXS7053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,681,015 - 8,681,141UniSTSGRCh37
Build 36X8,641,015 - 8,641,141RGDNCBI36
CeleraX12,858,783 - 12,858,909RGD
Cytogenetic MapXp22.32UniSTS
HuRefX6,508,517 - 6,508,643UniSTS
Whitehead-RH MapX14.0UniSTS
NCBI RH MapX10.0UniSTS
SHGC-12678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,028,285 - 16,028,619UniSTSGRCh37
GRCh37X8,500,120 - 8,500,454UniSTSGRCh37
Build 36X8,460,120 - 8,460,454RGDNCBI36
CeleraX3,008,140 - 3,008,474UniSTS
CeleraX12,677,814 - 12,678,148RGD
Cytogenetic MapXp22.32UniSTS
HuRefY10,672,374 - 10,672,708UniSTS
HuRefX6,327,622 - 6,327,956UniSTS
Whitehead-YAC Contig MapX UniSTS
G66217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y15,881,253 - 15,881,352UniSTSGRCh37
GRCh37X8,678,505 - 8,678,604UniSTSGRCh37
Build 36X8,638,505 - 8,638,604RGDNCBI36
CeleraX2,863,960 - 2,864,059UniSTS
CeleraX12,856,273 - 12,856,372RGD
Cytogenetic MapXp22.32UniSTS
HuRefY10,525,543 - 10,525,642UniSTS
HuRefX6,506,007 - 6,506,106UniSTS
G66228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y15,880,900 - 15,880,988UniSTSGRCh37
GRCh37X8,678,871 - 8,678,959UniSTSGRCh37
Build 36X8,638,871 - 8,638,959RGDNCBI36
CeleraX2,863,607 - 2,863,695UniSTS
CeleraX12,856,639 - 12,856,727RGD
Cytogenetic MapXp22.32UniSTS
HuRefY10,525,190 - 10,525,278UniSTS
HuRefX6,506,373 - 6,506,461UniSTS
KALP-6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y15,983,329 - 15,983,802UniSTSGRCh37
GRCh37X8,553,162 - 8,553,685UniSTSGRCh37
CeleraX2,966,036 - 2,966,509UniSTS
CeleraX12,730,866 - 12,731,389UniSTS
HuRefX6,380,744 - 6,381,267UniSTS
HuRefY10,626,395 - 10,626,868UniSTS
sY1759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,012,246 - 16,012,467UniSTSGRCh37
CeleraX12,687,794 - 12,688,015UniSTS
HuRefX6,337,603 - 6,337,824UniSTS
sY1758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y15,878,117 - 15,878,258UniSTSGRCh37
GRCh37X8,681,310 - 8,681,451UniSTSGRCh37
CeleraX2,860,824 - 2,860,965UniSTS
CeleraX12,859,078 - 12,859,219UniSTS
HuRefX6,508,812 - 6,508,953UniSTS
HuRefY10,522,407 - 10,522,548UniSTS
sY1762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,012,986 - 16,013,130UniSTSGRCh37
GRCh37X8,509,423 - 8,509,575UniSTSGRCh37
CeleraX12,687,124 - 12,687,275UniSTS
sY1889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,013,505 - 16,013,690UniSTSGRCh37
GRCh37X8,508,863 - 8,509,048UniSTSGRCh37
CeleraX12,686,564 - 12,686,749UniSTS
HuRefX6,336,373 - 6,336,558UniSTS
sY1890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,013,956 - 16,014,178UniSTSGRCh37
GRCh37X8,508,376 - 8,508,597UniSTSGRCh37
CeleraX12,686,077 - 12,686,298UniSTS
HuRefX6,335,886 - 6,336,107UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3099
Count of miRNA genes:1222
Interacting mature miRNAs:1533
Transcripts:ENST00000262648, ENST00000481896, ENST00000488294
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 19 303 166 4 19 4 404 150 347 22 142 582 4 1 19 201
Low 1350 1934 968 270 442 112 3828 1812 3168 258 1077 960 166 1150 2556 5 2
Below cutoff 996 693 574 335 1098 332 75 218 192 121 227 30 4 35 31 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA678961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI582702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD642906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN417843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA809233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB214183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP769542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X60299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262648   ⟹   ENSP00000262648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX8,528,874 - 8,732,137 (-)Ensembl
RefSeq Acc Id: ENST00000481896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX8,535,181 - 8,536,936 (-)Ensembl
RefSeq Acc Id: ENST00000488294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX8,565,806 - 8,570,650 (-)Ensembl
RefSeq Acc Id: NM_000216   ⟹   NP_000207
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X8,528,874 - 8,732,137 (-)NCBI
GRCh37X8,496,915 - 8,700,227 (-)ENTREZGENE
Build 36X8,456,915 - 8,660,227 (-)NCBI Archive
HuRefX6,324,418 - 6,527,699 (-)ENTREZGENE
CHM1_1X8,527,798 - 8,731,484 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274501   ⟹   XP_005274558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X8,565,806 - 8,732,132 (-)NCBI
GRCh37X8,496,915 - 8,700,227 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000207   ⟸   NM_000216
- Peptide Label: precursor
- UniProtKB: P23352 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274558   ⟸   XM_005274501
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000262648   ⟸   ENST00000262648
Protein Domains
Fibronectin type-III   WAP

Promoters
RGD ID:13604684
Promoter ID:EPDNEW_H28526
Type:initiation region
Name:ANOS1_1
Description:anosmin 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
GRCh38X8,732,137 - 8,732,197EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000216.4(ANOS1):c.1270C>T (p.Arg424Ter) single nucleotide variant not provided [RCV000518347] ChrX:8554036 [GRCh38]
ChrX:8522077 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.409C>G (p.Pro137Ala) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000541979] ChrX:8597166 [GRCh38]
ChrX:8565207 [GRCh37]
ChrX:Xp22.31
likely benign|uncertain significance
NM_000216.4(ANOS1):c.158G>A (p.Cys53Tyr) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000639014] ChrX:8731879 [GRCh38]
ChrX:8699920 [GRCh37]
ChrX:Xp22.31
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
ANOS1, 3,300-BP DEL deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010685] ChrX:Xp22.3 pathogenic
ANOS1, 1-BP DEL, PRO277FS deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010689] ChrX:Xp22.3 pathogenic
ANOS1, EX3-5DEL deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010690] ChrX:Xp22.3 pathogenic
ANOS1, EX5DEL deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010692] ChrX:Xp22.3 pathogenic
ANOS1, 11-BP DUP, NT158 duplication Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010693] ChrX:Xp22.3 pathogenic
ANOS1, EX3-13 DEL deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010695] ChrX:Xp22.3 pathogenic
ANOS1, EX3-6 DEL deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010697] ChrX:Xp22.3 pathogenic
NM_000216.4(ANOS1):c.711G>A (p.Trp237Ter) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010686] ChrX:8587809 [GRCh38]
ChrX:8555850 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010687] ChrX:8585354 [GRCh38]
ChrX:8553395 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.774G>A (p.Trp258Ter) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010688] ChrX:8585349 [GRCh38]
ChrX:8553390 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010691] ChrX:8536852 [GRCh38]
ChrX:8504893 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010694] ChrX:8585339 [GRCh38]
ChrX:8553380 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010696] ChrX:8568252 [GRCh38]
ChrX:8536293 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.1062+1G>T single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000010698] ChrX:8570498 [GRCh38]
ChrX:8538539 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.2(ANOS1):c.1355-6902A>G single nucleotide variant Lung cancer [RCV000102855] ChrX:8546660 [GRCh38]
ChrX:8514701 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.2(ANOS1):c.857-4578C>G single nucleotide variant Lung cancer [RCV000102858] ChrX:8575282 [GRCh38]
ChrX:8543323 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.31(chrX:7917055-8588267)x3 copy number gain See cases [RCV000051052] ChrX:7917055..8588267 [GRCh38]
ChrX:7885096..8556308 [GRCh37]
ChrX:7845096..8516308 [NCBI36]
ChrX:Xp22.31
uncertain significance
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-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 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
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 Xp22.31(chrX:7992018-8563130)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052330]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052330]|See cases [RCV000052330] ChrX:7992018..8563130 [GRCh38]
ChrX:7960059..8531171 [GRCh37]
ChrX:7920059..8491171 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8168621-8571550)x2 copy number gain See cases [RCV000052331] ChrX:8168621..8571550 [GRCh38]
ChrX:8136662..8539591 [GRCh37]
ChrX:8096662..8499591 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8452094-8729487)x2 copy number gain See cases [RCV000052332] ChrX:8452094..8729487 [GRCh38]
ChrX:8420135..8697528 [GRCh37]
ChrX:8380135..8657528 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8469933-8736337)x3 copy number gain See cases [RCV000052333] ChrX:8469933..8736337 [GRCh38]
ChrX:8437974..8704378 [GRCh37]
ChrX:8397974..8664378 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x2 copy number gain See cases [RCV000052334] ChrX:8627004..8736337 [GRCh38]
ChrX:8595045..8704378 [GRCh37]
ChrX:8555045..8664378 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8628853-8737453)x2 copy number gain See cases [RCV000052337] ChrX:8628853..8737453 [GRCh38]
ChrX:8596894..8705494 [GRCh37]
ChrX:8556894..8665494 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8629706-8706315)x3 copy number gain See cases [RCV000052338] ChrX:8629706..8706315 [GRCh38]
ChrX:8597747..8674356 [GRCh37]
ChrX:8557747..8634356 [NCBI36]
ChrX:Xp22.31
pathogenic|uncertain significance|conflicting data from submitters
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 Xp22.31-22.2(chrX:8327550-10980235)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|See cases [RCV000053056] ChrX:8327550..10980235 [GRCh38]
ChrX:8295591..10998355 [GRCh37]
ChrX:8255591..10908276 [NCBI36]
ChrX:Xp22.31-22.2
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-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 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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 Xp22.32-22.2(chrX:4557134-10838424)x1 copy number loss See cases [RCV000053028] ChrX:4557134..10838424 [GRCh38]
ChrX:4475175..10856543 [GRCh37]
ChrX:4485175..10766464 [NCBI36]
ChrX:Xp22.32-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0 copy number loss See cases [RCV000053011] ChrX:2782275..8961059 [GRCh38]
ChrX:2700316..8929100 [GRCh37]
ChrX:2710316..8889100 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
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 Xp22.31(chrX:8672728-8961059)x2 copy number gain See cases [RCV000054137] ChrX:8672728..8961059 [GRCh38]
ChrX:8640769..8929100 [GRCh37]
ChrX:8600769..8889100 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8695720-8700128)x3 copy number gain See cases [RCV000054138] ChrX:8695720..8700128 [GRCh38]
ChrX:8663761..8668169 [GRCh37]
ChrX:8623761..8628169 [NCBI36]
ChrX:Xp22.31
uncertain significance
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
NM_000216.4(ANOS1):c.1449+2del deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000074341] ChrX:8539662 [GRCh38]
ChrX:8507703 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.773G>A (p.Trp258Ter) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001004065] ChrX:8585350 [GRCh38]
ChrX:8553391 [GRCh37]
ChrX:Xp22.31
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
NM_000216.4(ANOS1):c.1A>G (p.Met1Val) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000128830] ChrX:8732036 [GRCh38]
ChrX:8700077 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:8588208-8752717)x3 copy number gain See cases [RCV000133803] ChrX:8588208..8752717 [GRCh38]
ChrX:8556249..8720758 [GRCh37]
ChrX:8516249..8680758 [NCBI36]
ChrX:Xp22.31
uncertain significance
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)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: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: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 Xp22.31(chrX:8627004-8736337)x3 copy number gain See cases [RCV000052335] ChrX:8627004..8736337 [GRCh38]
ChrX:8595045..8704378 [GRCh37]
ChrX:8555045..8664378 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-11.21(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 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31
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-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 Xp22.31-11.22(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 Xp22.33-21.1(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 Xp22.31(chrX:8629775-8730225)x2 copy number gain See cases [RCV000134866] ChrX:8629775..8730225 [GRCh38]
ChrX:8597816..8698266 [GRCh37]
ChrX:8557816..8658266 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.31(chrX:8629706-8706315)x2 copy number gain See cases [RCV000135723] ChrX:8629706..8706315 [GRCh38]
ChrX:8597747..8674356 [GRCh37]
ChrX:8557747..8634356 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8480218-8706315)x3 copy number gain See cases [RCV000135736] ChrX:8480218..8706315 [GRCh38]
ChrX:8448259..8674356 [GRCh37]
ChrX:8408259..8634356 [NCBI36]
ChrX:Xp22.31
benign|uncertain significance
GRCh38/hg38 Xp22.31(chrX:8480218-8706315)x2 copy number gain See cases [RCV000135737] ChrX:8480218..8706315 [GRCh38]
ChrX:8448259..8674356 [GRCh37]
ChrX:8408259..8634356 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:7072209-9374317)x0 copy number loss See cases [RCV000135789] ChrX:7072209..9374317 [GRCh38]
ChrX:6990250..9342357 [GRCh37]
ChrX:7000250..9302357 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:8585230-8939501)x2 copy number gain See cases [RCV000136601] ChrX:8585230..8939501 [GRCh38]
ChrX:8553271..8907542 [GRCh37]
ChrX:8513271..8867542 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:7666592-8706315)x3 copy number gain See cases [RCV000136551] ChrX:7666592..8706315 [GRCh38]
ChrX:7584633..8674356 [GRCh37]
ChrX:7594633..8634356 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.31(chrX:8548406-8752717)x2 copy number gain See cases [RCV000135963] ChrX:8548406..8752717 [GRCh38]
ChrX:8516447..8720758 [GRCh37]
ChrX:8476447..8680758 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
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 Xp22.31(chrX:8629706-8736616)x3 copy number gain See cases [RCV000137629] ChrX:8629706..8736616 [GRCh38]
ChrX:8597747..8704657 [GRCh37]
ChrX:8557747..8664657 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 Xp22.31(chrX:8504456-8673782)x2 copy number gain See cases [RCV000138113] ChrX:8504456..8673782 [GRCh38]
ChrX:8472497..8641823 [GRCh37]
ChrX:8432497..8601823 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8629706-8736954)x3 copy number gain See cases [RCV000138131] ChrX:8629706..8736954 [GRCh38]
ChrX:8597747..8704995 [GRCh37]
ChrX:8557747..8664995 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:7971169-8604859)x2 copy number gain See cases [RCV000138080] ChrX:7971169..8604859 [GRCh38]
ChrX:7939210..8572900 [GRCh37]
ChrX:7899210..8532900 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:8673723-8961059)x3 copy number gain See cases [RCV000138031] ChrX:8673723..8961059 [GRCh38]
ChrX:8641764..8929100 [GRCh37]
ChrX:8601764..8889100 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:8629706-8737453)x3 copy number gain See cases [RCV000137858] ChrX:8629706..8737453 [GRCh38]
ChrX:8597747..8705494 [GRCh37]
ChrX:8557747..8665494 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:8629706-8737453)x2 copy number gain See cases [RCV000137861] ChrX:8629706..8737453 [GRCh38]
ChrX:8597747..8705494 [GRCh37]
ChrX:8557747..8665494 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
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 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.31(chrX:8625445-8737453)x2 copy number gain See cases [RCV000138279] ChrX:8625445..8737453 [GRCh38]
ChrX:8593486..8705494 [GRCh37]
ChrX:8553486..8665494 [NCBI36]
ChrX:Xp22.31
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.31(chrX:8467892-8563130)x2 copy number gain See cases [RCV000139423] ChrX:8467892..8563130 [GRCh38]
ChrX:8435933..8531171 [GRCh37]
ChrX:8395933..8491171 [NCBI36]
ChrX:Xp22.31
uncertain significance
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-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-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 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 Xp22.31(chrX:6534654-8529736)x3 copy number gain See cases [RCV000139606] ChrX:6534654..8529736 [GRCh38]
ChrX:6452695..8497777 [GRCh37]
ChrX:6462695..8457777 [NCBI36]
ChrX:Xp22.31
benign
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 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 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.31(chrX:8462878-8579625)x3 copy number gain See cases [RCV000141788] ChrX:8462878..8579625 [GRCh38]
ChrX:8430919..8547666 [GRCh37]
ChrX:8390919..8507666 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:8480218-8568401)x3 copy number gain See cases [RCV000141521] ChrX:8480218..8568401 [GRCh38]
ChrX:8448259..8536442 [GRCh37]
ChrX:8408259..8496442 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:8627778-8734240)x2 copy number gain See cases [RCV000141664] ChrX:8627778..8734240 [GRCh38]
ChrX:8595819..8702281 [GRCh37]
ChrX:8555819..8662281 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:8167603-8602694)x3 copy number gain See cases [RCV000142086] ChrX:8167603..8602694 [GRCh38]
ChrX:8135644..8570735 [GRCh37]
ChrX:8095644..8530735 [NCBI36]
ChrX:Xp22.31
likely benign|uncertain significance
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 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.31(chrX:8451420-8998206)x3 copy number gain See cases [RCV000143068] ChrX:8451420..8998206 [GRCh38]
ChrX:8419461..8966247 [GRCh37]
ChrX:8379461..8926247 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:8327550-8588267)x3 copy number gain See cases [RCV000142681] ChrX:8327550..8588267 [GRCh38]
ChrX:8295591..8556308 [GRCh37]
ChrX:8255591..8516308 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:8619710-8740650)x3 copy number gain See cases [RCV000143380] ChrX:8619710..8740650 [GRCh38]
ChrX:8587751..8708691 [GRCh37]
ChrX:8547751..8668691 [NCBI36]
ChrX:Xp22.31
uncertain significance
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-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 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 Xp22.33-22.31(chrX:1539767-9473964)x0 copy number loss See cases [RCV000143697] ChrX:1539767..9473964 [GRCh38]
ChrX:1658660..9442004 [GRCh37]
ChrX:1618660..9402004 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:8629706-8706315)x3 copy number gain See cases [RCV000148058] ChrX:8629706..8706315 [GRCh38]
ChrX:8597747..8674356 [GRCh37]
ChrX:8557747..8634356 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:7842674-8627284)x3 copy number gain See cases [RCV000143622] ChrX:7842674..8627284 [GRCh38]
ChrX:7810715..8595325 [GRCh37]
ChrX:7770715..8555325 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:7965857-8614176)x3 copy number gain See cases [RCV000143565] ChrX:7965857..8614176 [GRCh38]
ChrX:7933898..8582217 [GRCh37]
ChrX:7893898..8542217 [NCBI36]
ChrX:Xp22.31
uncertain significance
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
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
NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter) single nucleotide variant Delayed puberty [RCV000156964]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000156963] ChrX:8539744 [GRCh38]
ChrX:8507785 [GRCh37]
ChrX:Xp22.31
likely pathogenic
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001260298]|not provided [RCV000255172] ChrX:8534412 [GRCh38]
ChrX:8502453 [GRCh37]
ChrX:Xp22.31
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
NM_000216.4(ANOS1):c.1420G>A (p.Gly474Arg) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000200960] ChrX:8539693 [GRCh38]
ChrX:8507734 [GRCh37]
ChrX:Xp22.31
likely benign
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
NM_000216.4(ANOS1):c.1627G>A (p.Val543Ile) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000553803] ChrX:8535806 [GRCh38]
ChrX:8503847 [GRCh37]
ChrX:Xp22.31
benign
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
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
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
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
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
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000216.4(ANOS1):c.1600G>A (p.Val534Ile) single nucleotide variant not specified [RCV000251173] ChrX:8536792 [GRCh38]
ChrX:8504833 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.422G>A (p.Ser141Asn) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000496168] ChrX:8597153 [GRCh38]
ChrX:8565194 [GRCh37]
ChrX:Xp22.31
likely 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 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
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
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.31(chrX:8601505-8703029)x2 copy number gain See cases [RCV000240443] ChrX:8601505..8703029 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.1833C>T (p.Ile611=) single nucleotide variant not specified [RCV000243087] ChrX:8535600 [GRCh38]
ChrX:8503641 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000490378]|not provided [RCV000874142] ChrX:8535755 [GRCh38]
ChrX:8503796 [GRCh37]
ChrX:Xp22.31
benign|uncertain significance
NC_000023.10:g.(?_8667719)_(8700097_?)dup duplication Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000528596] ChrX:8699678..8732056 [GRCh38]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.255+4C>T single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000872378]|not specified [RCV000600916] ChrX:8699694 [GRCh38]
ChrX:8667735 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1267C>T (p.Arg423Ter) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000639015]|not provided [RCV000578810] ChrX:8554039 [GRCh38]
ChrX:8522080 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.495G>A (p.Ser165=) single nucleotide variant not specified [RCV000604012] ChrX:8597080 [GRCh38]
ChrX:8565121 [GRCh37]
ChrX:Xp22.31
likely benign
NC_000023.10:g.(?_8555815)_(8700097_?)dup duplication Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000817931] ChrX:8587774..8732056 [GRCh38]
ChrX:8555815..8700097 [GRCh37]
ChrX:Xp22.31
uncertain significance
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
NM_000216.4(ANOS1):c.1532C>A (p.Ser511Tyr) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000538901] ChrX:8536860 [GRCh38]
ChrX:8504901 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1955C>A (p.Thr652Lys) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000505565] ChrX:8534348 [GRCh38]
ChrX:8502389 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:8601505-8702970)x3 copy number gain See cases [RCV000449397] ChrX:8601505..8702970 [GRCh37]
ChrX:Xp22.31
likely benign
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-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:8428907-8765770)x3 copy number gain See cases [RCV000449255] ChrX:8428907..8765770 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(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: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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:70297-8654089)x0 copy number loss See cases [RCV000446121] ChrX:70297..8654089 [GRCh37]
ChrX:Xp22.33-22.31
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 Xp22.31(chrX:8458992-8639989)x3 copy number gain See cases [RCV000447068] ChrX:8458992..8639989 [GRCh37]
ChrX:Xp22.31
uncertain significance
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000216.4(ANOS1):c.72G>A (p.Ala24=) single nucleotide variant not specified [RCV000434432] ChrX:8731965 [GRCh38]
ChrX:8700006 [GRCh37]
ChrX:Xp22.31
likely benign
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_000216.4(ANOS1):c.33_34insA (p.Leu12fs) insertion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000445556] ChrX:8732003..8732004 [GRCh38]
ChrX:8700044..8700045 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000445562] ChrX:8731892 [GRCh38]
ChrX:8699933 [GRCh37]
ChrX:Xp22.31
likely pathogenic
NM_000216.4(ANOS1):c.1283C>T (p.Pro428Leu) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000865159]|not specified [RCV000432110] ChrX:8554023 [GRCh38]
ChrX:8522064 [GRCh37]
ChrX:Xp22.31
benign|likely benign
NM_000216.4(ANOS1):c.463A>G (p.Asn155Asp) single nucleotide variant not specified [RCV000426145] ChrX:8597112 [GRCh38]
ChrX:8565153 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:8458992-8639989)x2 copy number gain See cases [RCV000447989] ChrX:8458992..8639989 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:8492395-8797458)x3 copy number gain See cases [RCV000448715] ChrX:8492395..8797458 [GRCh37]
ChrX:Xp22.31
likely benign
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000416582]|not specified [RCV000438127] ChrX:8533023 [GRCh38]
ChrX:8501064 [GRCh37]
ChrX:Xp22.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000416541] ChrX:8534399 [GRCh38]
ChrX:8502440 [GRCh37]
ChrX:Xp22.31
likely pathogenic
NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000416595] ChrX:8597171 [GRCh38]
ChrX:8565212 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.31(chrX:3711398-9389098)x0 copy number loss See cases [RCV000447912] ChrX:3711398..9389098 [GRCh37]
ChrX:Xp22.33-22.31
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 Xp22.31(chrX:8641742-8797458)x3 copy number gain See cases [RCV000448402] ChrX:8641742..8797458 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:8601505-8702970)x2 copy number gain See cases [RCV000448412] ChrX:8601505..8702970 [GRCh37]
ChrX:Xp22.31
likely 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_000216.4(ANOS1):c.580G>T (p.Glu194Ter) single nucleotide variant not provided [RCV000483000] ChrX:8587940 [GRCh38]
ChrX:8555981 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.1883C>T (p.Thr628Ile) single nucleotide variant not provided [RCV000487417] ChrX:8534420 [GRCh38]
ChrX:8502461 [GRCh37]
ChrX:Xp22.31
uncertain significance
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_000216.4(ANOS1):c.555G>C (p.Lys185Asn) single nucleotide variant not provided [RCV000782190]|not specified [RCV000498901] ChrX:8587965 [GRCh38]
ChrX:8556006 [GRCh37]
ChrX:Xp22.31
benign|likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000501949] ChrX:8731928 [GRCh38]
ChrX:8699969 [GRCh37]
ChrX:Xp22.31
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
NM_000216.4(ANOS1):c.357C>G (p.Ser119Arg) single nucleotide variant not provided [RCV000498038] ChrX:8597218 [GRCh38]
ChrX:8565259 [GRCh37]
ChrX:Xp22.31
uncertain significance
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
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
NM_000216.4(ANOS1):c.1887_1888del (p.Tyr630fs) deletion not provided [RCV000493459] ChrX:8534415..8534416 [GRCh38]
ChrX:8502456..8502457 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.255+5G>A single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000490637] ChrX:8699693 [GRCh38]
ChrX:8667734 [GRCh37]
ChrX:Xp22.31
likely 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 Xp22.31(chrX:6179830-8605251)x2 copy number gain See cases [RCV000515607] ChrX:6179830..8605251 [GRCh37]
ChrX:Xp22.31
likely 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 Xp22.31-22.2(chrX:6954111-10636640)x1 copy number loss See cases [RCV000511565] ChrX:6954111..10636640 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8430919-8553558)x3 copy number gain See cases [RCV000511741] ChrX:8430919..8553558 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000216.4(ANOS1):c.1615G>T (p.Glu539Ter) single nucleotide variant not provided [RCV000493134] ChrX:8536777 [GRCh38]
ChrX:8504818 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000493184] ChrX:8732034 [GRCh38]
ChrX:8700075 [GRCh37]
ChrX:Xp22.31
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.31(chrX:8425969-8651163)x3 copy number gain See cases [RCV000511023] ChrX:8425969..8651163 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
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_000216.4(ANOS1):c.957G>A (p.Glu319=) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000860728]|not specified [RCV000607035] ChrX:8570604 [GRCh38]
ChrX:8538645 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.90_100dup (p.Arg34fs) duplication Inborn genetic diseases [RCV000624132] ChrX:8731936..8731937 [GRCh38]
ChrX:8699977..8699978 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.1354+19_1354+22del microsatellite not provided [RCV000712034]|not specified [RCV000606130] ChrX:8553930..8553933 [GRCh38]
ChrX:8521971..8521974 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000860590]|not specified [RCV000612848] ChrX:8535674 [GRCh38]
ChrX:8503715 [GRCh37]
ChrX:Xp22.31
benign|likely benign
NM_000216.4(ANOS1):c.1A>T (p.Met1Leu) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000527090] ChrX:8732036 [GRCh38]
ChrX:8700077 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:8595319-8702281)x4 copy number gain See cases [RCV000512180] ChrX:8595319..8702281 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7983491-9267589)x3 copy number gain See cases [RCV000512189] ChrX:7983491..9267589 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
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
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_000216.4(ANOS1):c.640C>G (p.Pro214Ala) single nucleotide variant not provided [RCV000658094] ChrX:8587880 [GRCh38]
ChrX:8555921 [GRCh37]
ChrX:Xp22.31
uncertain significance
Single allele duplication Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000677962] ChrX:8601505..8703029 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31(chrX:8140963-8786707)x2 copy number gain not provided [RCV000684262] ChrX:8140963..8786707 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8430919-8940202)x2 copy number gain not provided [RCV000684263] ChrX:8430919..8940202 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8445776-9047716)x2 copy number gain not provided [RCV000684264] ChrX:8445776..9047716 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.31(chrX:8588402-8702277)x3 copy number gain not provided [RCV000684265] ChrX:8588402..8702277 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-11.23(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 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.31(chrX:8641611-8922732)x2 copy number gain not provided [RCV000684266] ChrX:8641611..8922732 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.397dup (p.Asp133fs) duplication not provided [RCV000681688] ChrX:8597177..8597178 [GRCh38]
ChrX:8565218..8565219 [GRCh37]
ChrX:Xp22.31
likely 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
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 Xp22.31(chrX:8437993-8693233)x3 copy number gain not provided [RCV000753367] ChrX:8437993..8693233 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8439382-8865574)x2 copy number gain not provided [RCV000753368] ChrX:8439382..8865574 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:8595820-8676423)x3 copy number gain not provided [RCV000753369] ChrX:8595820..8676423 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:8595820-8694839)x3 copy number gain not provided [RCV000753370] ChrX:8595820..8694839 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
NM_000216.4(ANOS1):c.76G>C (p.Gly26Arg) single nucleotide variant not provided [RCV000872391] ChrX:8731961 [GRCh38]
ChrX:8700002 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1419C>T (p.Thr473=) single nucleotide variant not provided [RCV000872837] ChrX:8539694 [GRCh38]
ChrX:8507735 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.618G>A (p.Ser206=) single nucleotide variant not provided [RCV000860674] ChrX:8587902 [GRCh38]
ChrX:8555943 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.21_22CG[1] (p.Ala8fs) microsatellite Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000761284] ChrX:8732013..8732014 [GRCh38]
ChrX:8700054..8700055 [GRCh37]
ChrX:Xp22.31
pathogenic
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 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000216.4(ANOS1):c.1284G>A (p.Pro428=) single nucleotide variant not provided [RCV000922522] ChrX:8554022 [GRCh38]
ChrX:8522063 [GRCh37]
ChrX:Xp22.31
likely benign
NM_000216.4(ANOS1):c.1932G>A (p.Pro644=) single nucleotide variant not provided [RCV000906347] ChrX:8534371 [GRCh38]
ChrX:8502412 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NC_000023.11:g.(?_8532975)_(8597276_?)del deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001033726] ChrX:8501016..8565317 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000216.4(ANOS1):c.264G>A (p.Glu88=) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000872148] ChrX:8623662 [GRCh38]
ChrX:8591703 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.911A>G (p.Asn304Ser) single nucleotide variant not provided [RCV000874317] ChrX:8570650 [GRCh38]
ChrX:8538691 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1921G>A (p.Gly641Arg) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000874324] ChrX:8534382 [GRCh38]
ChrX:8502423 [GRCh37]
ChrX:Xp22.31
likely benign
NM_000216.4(ANOS1):c.1842+9C>T single nucleotide variant not provided [RCV000928544] ChrX:8535582 [GRCh38]
ChrX:8503623 [GRCh37]
ChrX:Xp22.31
likely benign
NM_000216.4(ANOS1):c.890G>A (p.Arg297Gln) single nucleotide variant not provided [RCV000875962] ChrX:8570671 [GRCh38]
ChrX:8538712 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_000216.4(ANOS1):c.1449+1G>A single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000815592] ChrX:8539663 [GRCh38]
ChrX:8507704 [GRCh37]
ChrX:Xp22.31
likely pathogenic
NM_000216.4(ANOS1):c.1621+160A>G single nucleotide variant not provided [RCV000832597] ChrX:8536611 [GRCh38]
ChrX:8504652 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.113C>T (p.Ser38Leu) single nucleotide variant not provided [RCV000999314] ChrX:8731924 [GRCh38]
ChrX:8699965 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8588404-8603599)x0 copy number loss not provided [RCV000848288] ChrX:8588404..8603599 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8684769-8718318)x3 copy number gain not provided [RCV000849130] ChrX:8684769..8718318 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000216.4(ANOS1):c.541+66A>T single nucleotide variant not provided [RCV000836368] ChrX:8596968 [GRCh38]
ChrX:8565009 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:8588404-8710465)x3 copy number gain not provided [RCV000847883] ChrX:8588404..8710465 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8588404-8695657)x2 copy number gain not provided [RCV000848632] ChrX:8588404..8695657 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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
GRCh37/hg19 Xp22.31(chrX:8430919-8547666)x2 copy number gain not provided [RCV001007252] ChrX:8430919..8547666 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.1699G>A (p.Gly567Ser) single nucleotide variant not provided [RCV000782189] ChrX:8535734 [GRCh38]
ChrX:8503775 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.1355-263G>A single nucleotide variant not provided [RCV000826427] ChrX:8540021 [GRCh38]
ChrX:8508062 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1745T>C (p.Met582Thr) single nucleotide variant not provided [RCV000875670] ChrX:8535688 [GRCh38]
ChrX:8503729 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:8588404-8695657)x2 copy number gain not provided [RCV000846412] ChrX:8588404..8695657 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.1354+1del deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000851320] ChrX:8553951 [GRCh38]
ChrX:8521992 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1 copy number loss not provided [RCV001007202] ChrX:168546..8503210 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:8588404-8695657)x2 copy number gain not provided [RCV000845752] ChrX:8588404..8695657 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8642030-8923005)x3 copy number gain not provided [RCV000847575] ChrX:8642030..8923005 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
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-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_000216.4(ANOS1):c.1381C>T (p.Arg461Trp) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000873984] ChrX:8539732 [GRCh38]
ChrX:8507773 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.214G>A (p.Gly72Ser) single nucleotide variant not provided [RCV000875563] ChrX:8699739 [GRCh38]
ChrX:8667780 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1782G>A (p.Thr594=) single nucleotide variant not provided [RCV000875570] ChrX:8535651 [GRCh38]
ChrX:8503692 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.906C>T (p.Thr302=) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV000874106] ChrX:8570655 [GRCh38]
ChrX:8538696 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.1642C>T (p.Leu548=) single nucleotide variant not provided [RCV000872453] ChrX:8535791 [GRCh38]
ChrX:8503832 [GRCh37]
ChrX:Xp22.31
benign
NM_000216.4(ANOS1):c.494C>A (p.Ser165Ter) single nucleotide variant not provided [RCV001008710] ChrX:8597081 [GRCh38]
ChrX:8565122 [GRCh37]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(?_8553932)_(8597276_?)dup duplication Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001031837] ChrX:8521973..8565317 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31(chrX:8437305-9078873)x3 copy number gain not provided [RCV001007253] ChrX:8437305..9078873 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8614388-8841933)x2 copy number gain not provided [RCV001007255] ChrX:8614388..8841933 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.31(chrX:8609327-8874464)x2 copy number gain not provided [RCV001007254] ChrX:8609327..8874464 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.313del (p.Cys105fs) deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001004068] ChrX:8623613 [GRCh38]
ChrX:8591654 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:8369924-8672531)x3 copy number gain not provided [RCV001007250] ChrX:8369924..8672531 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8401014-8621660)x3 copy number gain not provided [RCV001007251] ChrX:8401014..8621660 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:8135644-8747411)x2 copy number gain not provided [RCV001007249] ChrX:8135644..8747411 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.171_174dup (p.Thr59fs) duplication Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001253001] ChrX:8731862..8731863 [GRCh38]
ChrX:8699903..8699904 [GRCh37]
ChrX:Xp22.31
likely pathogenic
NM_000216.4(ANOS1):c.879G>A (p.Pro293=) single nucleotide variant not provided [RCV001253843] ChrX:8570682 [GRCh38]
ChrX:8538723 [GRCh37]
ChrX:Xp22.31
likely benign
NM_000216.4(ANOS1):c.1539del (p.Glu514fs) deletion Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001253077] ChrX:8536853 [GRCh38]
ChrX:8504894 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:7863476-9234976)x1 copy number loss not provided [RCV001260014] ChrX:7863476..9234976 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:8158933-8572776)x0 copy number loss not provided [RCV001260015] ChrX:8158933..8572776 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000216.4(ANOS1):c.515G>C (p.Cys172Ser) single nucleotide variant not provided [RCV001289010] ChrX:8597060 [GRCh38]
ChrX:8565101 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.337A>C (p.Ser113Arg) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001331074] ChrX:8597238 [GRCh38]
ChrX:8565279 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_000216.4(ANOS1):c.1871T>G (p.Leu624Arg) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001339622] ChrX:8534432 [GRCh38]
ChrX:8502473 [GRCh37]
ChrX:Xp22.31
uncertain significance
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_000216.4(ANOS1):c.1536G>A (p.Lys512=) single nucleotide variant Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [RCV001331073] ChrX:8536856 [GRCh38]
ChrX:8504897 [GRCh37]
ChrX:Xp22.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6211 AgrOrtholog
COSMIC ANOS1 COSMIC
Ensembl Genes ENSG00000011201 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000262648 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262648 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.75.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000011201 GTEx
HGNC ID HGNC:6211 ENTREZGENE
Human Proteome Map ANOS1 Human Proteome Map
InterPro Anosmin-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anosmin-1_Cys_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Elafin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3730 UniProtKB/Swiss-Prot
NCBI Gene 3730 ENTREZGENE
OMIM 300836 OMIM
  308700 OMIM
PANTHER PTHR14131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cys_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30012 PharmGKB
PRINTS 4DISULPHCORE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0RPQ5_HUMAN UniProtKB/TrEMBL
  KALM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RPF8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-04-14 ANOS1  anosmin 1  KAL1  Kallmann syndrome 1 sequence  Symbol and/or name change 5135510 APPROVED
2011-08-16 KAL1  Kallmann syndrome 1 sequence  KAL1  Kallmann syndrome 1 sequence  Symbol and/or name change 5135510 APPROVED