GNRHR (gonadotropin releasing hormone receptor) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: GNRHR (gonadotropin releasing hormone receptor) Homo sapiens
Analyze
Symbol: GNRHR
Name: gonadotropin releasing hormone receptor
RGD ID: 737339
HGNC Page HGNC:4421
Description: Enables gonadotropin-releasing hormone receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway; cellular response to hormone stimulus; and circadian rhythm. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in hypogonadotropic hypogonadism 7 with or without anosmia. Biomarker of primary sclerosing cholangitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: gnRH receptor; gnRH-R; GNRHR1; gonadotropin-releasing hormone (type 1) receptor 1; gonadotropin-releasing hormone receptor; GRHR; HH7; leutinizing hormone releasing horomone receptor; leutinizing-releasing hormone receptor; LHRHR; LRHR; luliberin receptor; type I GnRH receptor
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38467,737,118 - 67,754,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl467,737,118 - 67,754,388 (-)EnsemblGRCh38hg38GRCh38
GRCh37468,602,836 - 68,620,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36468,285,688 - 68,304,399 (-)NCBINCBI36Build 36hg18NCBI36
Build 34468,434,963 - 68,450,570NCBI
Celera466,065,459 - 66,084,171 (-)NCBICelera
Cytogenetic Map4q13.2NCBI
HuRef464,516,278 - 64,534,988 (-)NCBIHuRef
CHM1_1468,640,204 - 68,658,910 (-)NCBICHM1_1
T2T-CHM13v2.0471,180,228 - 71,197,499 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrophenol  (EXP)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
ammonium chloride  (ISO)
ammonium hexachloroplatinate  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
bifenthrin  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buserelin  (EXP)
cadmium dichloride  (ISO)
calcidiol  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chromium(6+)  (ISO)
decabromodiphenyl ether  (ISO)
Deslorelin  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dipentyl phthalate  (ISO)
doxorubicin  (EXP)
equol  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
flutamide  (ISO)
galaxolide  (ISO)
hexamethylene diisocyanate  (EXP)
isoflavones  (ISO)
lipoic acid  (ISO)
maleic acid  (EXP)
melatonin  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentobarbital  (ISO)
perfluorododecanoic acid  (ISO)
perfluoroundecanoic acid  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
picrotoxin  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
rac-lactic acid  (EXP)
sophoraflavanone B  (ISO)
T-2 toxin  (ISO)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
thimerosal  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (EXP)
triptorelin  (ISO)
tunicamycin  (ISO)
vinclozolin  (ISO)
zearalenone  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA,TAS)
plasma membrane  (IBA,IEA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Knockdown of Hepatic Gonadotropin-Releasing Hormone by Vivo-Morpholino Decreases Liver Fibrosis in Multidrug Resistance Gene 2 Knockout Mice by Down-Regulation of miR-200b. Kyritsi K, etal., Am J Pathol. 2017 Jul;187(7):1551-1565. doi: 10.1016/j.ajpath.2017.03.013. Epub 2017 May 12.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. Pitteloud N, etal., J Clin Invest. 2007 Feb;117(2):457-63. Epub 2007 Jan 18.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1333190   PMID:7534732   PMID:7613048   PMID:7768323   PMID:7958384   PMID:8386108   PMID:8472841   PMID:9259321   PMID:9272108   PMID:9371856   PMID:9414473   PMID:9425890  
PMID:10022417   PMID:10084584   PMID:10366411   PMID:10523035   PMID:10686191   PMID:10999776   PMID:11278883   PMID:11318785   PMID:11397842   PMID:11397871   PMID:11981042   PMID:11994356  
PMID:11997175   PMID:12040003   PMID:12050282   PMID:12054603   PMID:12062898   PMID:12089350   PMID:12161512   PMID:12446597   PMID:12477932   PMID:12568864   PMID:12679486   PMID:12788881  
PMID:12843188   PMID:12947046   PMID:14551223   PMID:14565958   PMID:14726258   PMID:15105440   PMID:15149726   PMID:15489334   PMID:15529183   PMID:15546906   PMID:15563546   PMID:15761034  
PMID:15886197   PMID:16213849   PMID:16301116   PMID:16322390   PMID:16359986   PMID:16364974   PMID:16613990   PMID:16754659   PMID:16968799   PMID:17170088   PMID:17179725   PMID:17452338  
PMID:17710733   PMID:17942747   PMID:18240029   PMID:18252959   PMID:18356273   PMID:18463157   PMID:18541137   PMID:18682503   PMID:18980792   PMID:19064572   PMID:19086053   PMID:19095769  
PMID:19190109   PMID:19246515   PMID:19372239   PMID:19449676   PMID:19453261   PMID:19489874   PMID:19640273   PMID:19724914   PMID:19787259   PMID:19858197   PMID:20182875   PMID:20236028  
PMID:20301509   PMID:20400076   PMID:20507982   PMID:20628612   PMID:20634197   PMID:20670943   PMID:20734064   PMID:20836995   PMID:21274726   PMID:21277937   PMID:21317933   PMID:21330483  
PMID:21527534   PMID:21717411   PMID:21832286   PMID:21873635   PMID:22024993   PMID:22623531   PMID:22679506   PMID:22710726   PMID:22724017   PMID:22745237   PMID:22766261   PMID:22778172  
PMID:22788855   PMID:23155690   PMID:23176180   PMID:23233674   PMID:23287110   PMID:23380421   PMID:23632635   PMID:23891857   PMID:23994024   PMID:24002956   PMID:24472523   PMID:24685158  
PMID:24732674   PMID:25016926   PMID:25293576   PMID:25531638   PMID:25592315   PMID:26044071   PMID:26308290   PMID:26644469   PMID:26920257   PMID:27196470   PMID:28298427   PMID:28348023  
PMID:28514442   PMID:28709956   PMID:29544634   PMID:29777911   PMID:30415482   PMID:30476558   PMID:30926640   PMID:30947225   PMID:31188427   PMID:31614426   PMID:31703269   PMID:32156725  
PMID:32319606   PMID:32352843   PMID:33082324   PMID:33652606   PMID:33961781   PMID:34013495   PMID:34062169   PMID:34209056   PMID:34297503   PMID:35264044   PMID:35777983   PMID:36035370  
PMID:37828510  


Genomics

Comparative Map Data
GNRHR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38467,737,118 - 67,754,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl467,737,118 - 67,754,388 (-)EnsemblGRCh38hg38GRCh38
GRCh37468,602,836 - 68,620,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36468,285,688 - 68,304,399 (-)NCBINCBI36Build 36hg18NCBI36
Build 34468,434,963 - 68,450,570NCBI
Celera466,065,459 - 66,084,171 (-)NCBICelera
Cytogenetic Map4q13.2NCBI
HuRef464,516,278 - 64,534,988 (-)NCBIHuRef
CHM1_1468,640,204 - 68,658,910 (-)NCBICHM1_1
T2T-CHM13v2.0471,180,228 - 71,197,499 (-)NCBIT2T-CHM13v2.0
Gnrhr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39586,328,613 - 86,345,760 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl586,328,613 - 86,345,760 (-)EnsemblGRCm39 Ensembl
GRCm38586,180,754 - 86,197,901 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl586,180,754 - 86,197,901 (-)EnsemblGRCm38mm10GRCm38
MGSCv37586,611,019 - 86,626,895 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36587,256,555 - 87,272,431 (-)NCBIMGSCv36mm8
Celera583,413,347 - 83,430,921 (-)NCBICelera
Cytogenetic Map5E1NCBI
cM Map543.56NCBI
Gnrhr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81422,211,666 - 22,229,654 (+)NCBIGRCr8
mRatBN7.21421,856,871 - 21,874,861 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1421,856,871 - 21,874,861 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1422,213,471 - 22,231,501 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01423,525,897 - 23,543,927 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01422,056,995 - 22,075,025 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01423,480,462 - 23,498,450 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1423,480,462 - 23,498,450 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01423,384,861 - 23,402,815 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41423,625,135 - 23,656,583 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11423,625,137 - 23,656,250 (+)NCBI
Celera1421,327,308 - 21,348,471 (+)NCBICelera
Cytogenetic Map14p21NCBI
GNRHR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2362,141,365 - 62,155,225 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1462,351,392 - 62,367,764 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0456,295,425 - 56,314,962 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1462,687,474 - 62,706,179 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl462,687,474 - 62,706,167 (+)Ensemblpanpan1.1panPan2
GNRHR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11358,253,112 - 58,266,600 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1358,253,027 - 58,266,705 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1358,168,278 - 58,181,765 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01358,865,514 - 58,878,973 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1358,865,514 - 58,878,973 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11358,590,137 - 58,603,620 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01358,080,483 - 58,093,952 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01359,090,982 - 59,104,477 (-)NCBIUU_Cfam_GSD_1.0
Gnrhr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528518,185,844 - 18,202,017 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936582749,016 - 765,189 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936582749,016 - 765,189 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNRHR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.171,205,294 - 1,225,105 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660661,294,292 - 1,311,901 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gnrhr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247611,216,556 - 1,225,994 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247611,216,501 - 1,231,229 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GNRHR
158 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000406.3(GNRHR):c.189G>C (p.Trp63Cys) single nucleotide variant not provided [RCV000523656] Chr4:67754147 [GRCh38]
Chr4:68619865 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) single nucleotide variant Amenorrhea [RCV001849268]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030908]|Hypogonadotropic hypogonadism [RCV004782017]|See cases [RCV004584328]|not provided [RCV000494391] Chr4:67740682 [GRCh38]
Chr4:68606400 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030909] Chr4:67740616 [GRCh38]
Chr4:68606334 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030910]|not provided [RCV001851889] Chr4:67753950 [GRCh38]
Chr4:68619668 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030911] Chr4:67744659 [GRCh38]
Chr4:68610377 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) single nucleotide variant Amenorrhea [RCV001849269]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030912] Chr4:67753832 [GRCh38]
Chr4:68619550 [GRCh37]
Chr4:4q13.2		 pathogenic|uncertain significance
NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030913] Chr4:67740526 [GRCh38]
Chr4:68606244 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030914]|not provided [RCV000497820] Chr4:67753920 [GRCh38]
Chr4:68619638 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030915]|Isolated GnRH Deficiency [RCV000375229] Chr4:67754306 [GRCh38]
Chr4:68620024 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030916]|not provided [RCV001560549] Chr4:67754068 [GRCh38]
Chr4:68619786 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
NM_000406.3(GNRHR):c.523-1G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030917] Chr4:67744788 [GRCh38]
Chr4:68610506 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030918] Chr4:67753825 [GRCh38]
Chr4:68619543 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030920] Chr4:67740508 [GRCh38]
Chr4:68606226 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) single nucleotide variant GNRHR-related disorder [RCV003415714]|Gonadotropin deficiency [RCV000662016]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000190591]|Hypogonadotropic hypogonadism [RCV003330392]|Inborn genetic diseases [RCV004018637]|Infertility disorder [RCV001327939]|Isolated congenital hypogonadotropic hypogonadism [RCV000599632]|not provided [RCV000255385] Chr4:67754019 [GRCh38]
Chr4:68619737 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) single nucleotide variant GNRHR-related disorder [RCV003935381]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000765786]|not provided [RCV000523077]|not specified [RCV001821457] Chr4:67753900 [GRCh38]
Chr4:68619618 [GRCh37]
Chr4:4q13.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1 copy number loss See cases [RCV000050704] Chr4:66842408..70831557 [GRCh38]
Chr4:67708126..71697274 [GRCh37]
Chr4:67390721..71916138 [NCBI36]
Chr4:4q13.2-13.3		 pathogenic
GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3 copy number gain See cases [RCV000051038] Chr4:65873016..68743024 [GRCh38]
Chr4:66738734..69608742 [GRCh37]
Chr4:66421329..69643331 [NCBI36]
Chr4:4q13.2		 uncertain significance
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 copy number loss See cases [RCV000053293] Chr4:65454562..72313693 [GRCh38]
Chr4:66320280..73179410 [GRCh37]
Chr4:66002875..73398274 [NCBI36]
Chr4:4q13.1-13.3		 pathogenic
NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000114424] Chr4:67740625 [GRCh38]
Chr4:68606343 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000114425] Chr4:67754242 [GRCh38]
Chr4:68619960 [GRCh37]
Chr4:4q13.2		 pathogenic|uncertain significance
NM_000406.3(GNRHR):c.392T>C (p.Met131Thr) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000128826] Chr4:67753944 [GRCh38]
Chr4:68619662 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000128827] Chr4:67740661 [GRCh38]
Chr4:68606379 [GRCh37]
Chr4:4q13.2		 pathogenic
GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1 copy number loss See cases [RCV000142366] Chr4:67744481..70267689 [GRCh38]
Chr4:68610199..71133406 [GRCh37]
Chr4:68292794..71167995 [NCBI36]
Chr4:4q13.2-13.3		 uncertain significance
NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg) single nucleotide variant Delayed puberty [RCV000156945]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000995775] Chr4:67753986 [GRCh38]
Chr4:68619704 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys) indel Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000030919]|not provided [RCV000498552] Chr4:67754305..67754306 [GRCh38]
Chr4:68620023..68620024 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
NM_000406.2(GNRHR):c.-1239T>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000261188] Chr4:67755574 [GRCh38]
Chr4:68621292 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-107C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000278514] Chr4:67754442 [GRCh38]
Chr4:68620160 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1570C>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000286221]|not provided [RCV001613154] Chr4:67755905 [GRCh38]
Chr4:68621623 [GRCh37]
Chr4:4q13.2		 benign|likely benign|uncertain significance
NM_000406.3(GNRHR):c.*809C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000281409]|not provided [RCV004717530] Chr4:67739671 [GRCh38]
Chr4:68605389 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.523-15del deletion Isolated GnRH Deficiency [RCV000270618]|not provided [RCV002520263] Chr4:67744802 [GRCh38]
Chr4:68610520 [GRCh37]
Chr4:4q13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000406.3(GNRHR):c.*1654C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000276419] Chr4:67738826 [GRCh38]
Chr4:68604544 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2919A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000276892] Chr4:67737561 [GRCh38]
Chr4:68603279 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*730T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000298913] Chr4:67739750 [GRCh38]
Chr4:68605468 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1255T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000332699] Chr4:67755590 [GRCh38]
Chr4:68621308 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*1575del deletion Isolated GnRH Deficiency [RCV000315384] Chr4:67738905 [GRCh38]
Chr4:68604623 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1144T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000353486] Chr4:67755479 [GRCh38]
Chr4:68621197 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*1891T>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000354694] Chr4:67738589 [GRCh38]
Chr4:68604307 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.2(GNRHR):c.-224A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000317207]|not provided [RCV001672646] Chr4:67754559 [GRCh38]
Chr4:68620277 [GRCh37]
Chr4:4q13.2		 benign
NM_000406.2(GNRHR):c.-1563T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000400962] Chr4:67755898 [GRCh38]
Chr4:68621616 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.31C>A (p.Gln11Lys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV003989525]|Isolated GnRH Deficiency [RCV000318227] Chr4:67754305 [GRCh38]
Chr4:68620023 [GRCh37]
Chr4:4q13.2		 likely pathogenic|uncertain significance
NM_000406.2(GNRHR):c.-62G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000357929]|not provided [RCV001672645] Chr4:67754397 [GRCh38]
Chr4:68620115 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.2(GNRHR):c.-1059G>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000319911] Chr4:67755394 [GRCh38]
Chr4:68621112 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*806G>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000338745] Chr4:67739674 [GRCh38]
Chr4:68605392 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*829T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000338992]|not provided [RCV004716267] Chr4:67739651 [GRCh38]
Chr4:68605369 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*2166G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000381028] Chr4:67738314 [GRCh38]
Chr4:68604032 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*2496G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000290190] Chr4:67737984 [GRCh38]
Chr4:68603702 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.2(GNRHR):c.-1434A>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000383856] Chr4:67755769 [GRCh38]
Chr4:68621487 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1497C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000291948]|not provided [RCV001692005] Chr4:67755832 [GRCh38]
Chr4:68621550 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.453C>T (p.Ser151=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000323308]|not provided [RCV001660731]|not specified [RCV000518057] Chr4:67753883 [GRCh38]
Chr4:68619601 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*2055G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000343215] Chr4:67738425 [GRCh38]
Chr4:68604143 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.648C>T (p.Phe216=) single nucleotide variant GNRHR-related disorder [RCV003932425]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000362731]|not provided [RCV000898629]|not specified [RCV000600986] Chr4:67744662 [GRCh38]
Chr4:68610380 [GRCh37]
Chr4:4q13.2		 likely benign|uncertain significance
NM_000406.2(GNRHR):c.-904A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000307832]|not provided [RCV004716268] Chr4:67755239 [GRCh38]
Chr4:68620957 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.2(GNRHR):c.-1636T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000343526] Chr4:67755971 [GRCh38]
Chr4:68621689 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2663G>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000386570] Chr4:67737817 [GRCh38]
Chr4:68603535 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.2(GNRHR):c.-1311A>G single nucleotide variant Isolated GnRH Deficiency [RCV000293123] Chr4:67755646 [GRCh38]
Chr4:68621364 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1542delT deletion Isolated GnRH Deficiency [RCV000344654]|not provided [RCV001683391] Chr4:67755868 [GRCh38]
Chr4:68621586 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.2(GNRHR):c.-1279G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000389546] Chr4:67755614 [GRCh38]
Chr4:68621332 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*1155del deletion Isolated GnRH Deficiency [RCV000327224] Chr4:67739325 [GRCh38]
Chr4:68605043 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1260G>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000328188]|not provided [RCV004716266] Chr4:67739220 [GRCh38]
Chr4:68604938 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.2(GNRHR):c.-731C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000347516] Chr4:67755066 [GRCh38]
Chr4:68620784 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.*2328A>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000347457] Chr4:67738152 [GRCh38]
Chr4:68603870 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1347A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000367705] Chr4:67739133 [GRCh38]
Chr4:68604851 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-541G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000296214] Chr4:67754876 [GRCh38]
Chr4:68620594 [GRCh37]
Chr4:4q13.2		 likely benign|uncertain significance
NM_000406.3(GNRHR):c.*495T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000311635]|not provided [RCV004695811] Chr4:67739985 [GRCh38]
Chr4:68605703 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2802T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000329663] Chr4:67737678 [GRCh38]
Chr4:68603396 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*802G>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000393012]|not provided [RCV004717531] Chr4:67739678 [GRCh38]
Chr4:68605396 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*1892C>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000297476] Chr4:67738588 [GRCh38]
Chr4:68604306 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*583A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000351476]|not provided [RCV004717532] Chr4:67739897 [GRCh38]
Chr4:68605615 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*1193C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000269685] Chr4:67739287 [GRCh38]
Chr4:68605005 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-991A>G single nucleotide variant Isolated GnRH Deficiency [RCV000262395] Chr4:67755326 [GRCh38]
Chr4:68621044 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1295dup duplication Isolated GnRH Deficiency [RCV000275376] Chr4:67739184..67739185 [GRCh38]
Chr4:68604902..68604903 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2032dup duplication Isolated GnRH Deficiency [RCV000392902] Chr4:67738447..67738448 [GRCh38]
Chr4:68604165..68604166 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*513dup duplication Isolated GnRH Deficiency [RCV000393015] Chr4:67739966..67739967 [GRCh38]
Chr4:68605684..68605685 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-962G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000302326] Chr4:67755297 [GRCh38]
Chr4:68621015 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2031dup duplication Isolated GnRH Deficiency [RCV000303560] Chr4:67738448..67738449 [GRCh38]
Chr4:68604166..68604167 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1319C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000331740] Chr4:67755654 [GRCh38]
Chr4:68621372 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1948C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000402441] Chr4:67738532 [GRCh38]
Chr4:68604250 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-576G>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000348253] Chr4:67754911 [GRCh38]
Chr4:68620629 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1248A>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000385229] Chr4:67739232 [GRCh38]
Chr4:68604950 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.773T>C (p.Ile258Thr) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000404324] Chr4:67740694 [GRCh38]
Chr4:68606412 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*349A>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000368769] Chr4:67740131 [GRCh38]
Chr4:68605849 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-927C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000406118] Chr4:67755262 [GRCh38]
Chr4:68620980 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*3076T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000387672] Chr4:67737404 [GRCh38]
Chr4:68603122 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-509_-505delAAAGA deletion Isolated GnRH Deficiency [RCV000388172] Chr4:67754838..67754842 [GRCh38]
Chr4:68620556..68620560 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1984T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000337424] Chr4:67738496 [GRCh38]
Chr4:68604214 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*832T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000286281] Chr4:67739648 [GRCh38]
Chr4:68605366 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1741G>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000391643] Chr4:67756076 [GRCh38]
Chr4:68621794 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.743-9A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000310316] Chr4:67740733 [GRCh38]
Chr4:68606451 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-877C>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000392473] Chr4:67755212 [GRCh38]
Chr4:68620930 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-683T>G single nucleotide variant Isolated GnRH Deficiency [RCV000392502] Chr4:67755018 [GRCh38]
Chr4:68620736 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2165A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000288940] Chr4:67738315 [GRCh38]
Chr4:68604033 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-980G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000359378] Chr4:67755315 [GRCh38]
Chr4:68621033 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-922A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000360097] Chr4:67755257 [GRCh38]
Chr4:68620975 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*819A>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000377281] Chr4:67739661 [GRCh38]
Chr4:68605379 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-721A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000290252] Chr4:67755056 [GRCh38]
Chr4:68620774 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1144A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000379451] Chr4:67739336 [GRCh38]
Chr4:68605054 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1302G>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151692] Chr4:67739178 [GRCh38]
Chr4:68604896 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.143T>C (p.Leu48Pro) single nucleotide variant not provided [RCV000585491] Chr4:67754193 [GRCh38]
Chr4:68619911 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q13.2(chr4:68267070-69203425)x3 copy number gain See cases [RCV000449358] Chr4:68267070..69203425 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_000406.3(GNRHR):c.633T>A (p.Tyr211Ter) single nucleotide variant not provided [RCV000418487] Chr4:67744677 [GRCh38]
Chr4:68610395 [GRCh37]
Chr4:4q13.2		 pathogenic
GRCh37/hg19 4q13.2(chr4:67997060-69198391)x3 copy number gain See cases [RCV000447856] Chr4:67997060..69198391 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.413A>G (p.Asp138Gly) single nucleotide variant not provided [RCV000478033] Chr4:67753923 [GRCh38]
Chr4:68619641 [GRCh37]
Chr4:4q13.2		 likely pathogenic
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3 copy number gain not provided [RCV000682409] Chr4:64705501..73469716 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
GRCh37/hg19 4q13.1-13.2(chr4:65395609-69170853)x1 copy number loss not provided [RCV000682411] Chr4:65395609..69170853 [GRCh37]
Chr4:4q13.1-13.2		 uncertain significance
GRCh37/hg19 4q12-13.3(chr4:58332294-71587615)x1 copy number loss not provided [RCV000743602] Chr4:58332294..71587615 [GRCh37]
Chr4:4q12-13.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NC_000004.12:g.67756228_67756237del deletion not provided [RCV001612916] Chr4:67756227..67756236 [GRCh38]
Chr4:68621945..68621954 [GRCh37]
Chr4:4q13.2		 benign
NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001336843]|not provided [RCV000903894]|not specified [RCV004997480] Chr4:67744591 [GRCh38]
Chr4:68610309 [GRCh37]
Chr4:4q13.2		 benign|likely benign|uncertain significance
NM_000406.3(GNRHR):c.281T>C (p.Val94Ala) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000779451]|not provided [RCV003546600] Chr4:67754055 [GRCh38]
Chr4:68619773 [GRCh37]
Chr4:4q13.2		 conflicting interpretations of pathogenicity|uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787447] Chr4:61605456..68762943 [GRCh37]
Chr4:4q13.1-13.2		 likely pathogenic
NM_000406.3(GNRHR):c.144C>G (p.Leu48=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153044]|not provided [RCV000966915] Chr4:67754192 [GRCh38]
Chr4:68619910 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.51C>A (p.Ile17=) single nucleotide variant not provided [RCV000917399] Chr4:67754285 [GRCh38]
Chr4:68620003 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.981T>C (p.Ser327=) single nucleotide variant GNRHR-related disorder [RCV003960695]|not provided [RCV000958738] Chr4:67740486 [GRCh38]
Chr4:68606204 [GRCh37]
Chr4:4q13.2		 benign|likely benign
NM_000406.3(GNRHR):c.*1797A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151690] Chr4:67738683 [GRCh38]
Chr4:68604401 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22		 pathogenic
NM_000406.2(GNRHR):c.-1251T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151896] Chr4:67755586 [GRCh38]
Chr4:68621304 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.399G>A (p.Val133=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153042] Chr4:67753937 [GRCh38]
Chr4:68619655 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1701A>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153156] Chr4:67756036 [GRCh38]
Chr4:68621754 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3 copy number gain not provided [RCV001005552] Chr4:67392949..69837294 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2588C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155468] Chr4:67737892 [GRCh38]
Chr4:68603610 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.783A>G (p.Ala261=) single nucleotide variant not provided [RCV000890475] Chr4:67740684 [GRCh38]
Chr4:68606402 [GRCh37]
Chr4:4q13.2		 likely benign
NC_000004.12:g.67756240dup duplication not provided [RCV001572075] Chr4:67756237..67756238 [GRCh38]
Chr4:68621955..68621956 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.*696A>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155567] Chr4:67739784 [GRCh38]
Chr4:68605502 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2248T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157145] Chr4:67738232 [GRCh38]
Chr4:68603950 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*668G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157251] Chr4:67739812 [GRCh38]
Chr4:68605530 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*466T>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157255] Chr4:67740014 [GRCh38]
Chr4:68605732 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*385A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157256] Chr4:67740095 [GRCh38]
Chr4:68605813 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.*2196G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157147] Chr4:67738284 [GRCh38]
Chr4:68604002 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*662T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157252] Chr4:67739818 [GRCh38]
Chr4:68605536 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*193A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151793] Chr4:67740287 [GRCh38]
Chr4:68606005 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.666C>T (p.Ile222=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151794]|Inborn genetic diseases [RCV004978062] Chr4:67744644 [GRCh38]
Chr4:68610362 [GRCh37]
Chr4:4q13.2		 likely benign|uncertain significance
NM_000406.3(GNRHR):c.576T>C (p.Val192=) single nucleotide variant GNRHR-related disorder [RCV003898148]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151795] Chr4:67744734 [GRCh38]
Chr4:68610452 [GRCh37]
Chr4:4q13.2		 likely benign|uncertain significance
NM_000406.3(GNRHR):c.215A>G (p.Lys72Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153043] Chr4:67754121 [GRCh38]
Chr4:68619839 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1301A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152929] Chr4:67739179 [GRCh38]
Chr4:68604897 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*1275G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152930] Chr4:67739205 [GRCh38]
Chr4:68604923 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.12T>G (p.Ser4Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153045] Chr4:67754324 [GRCh38]
Chr4:68620042 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2748C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155467] Chr4:67737732 [GRCh38]
Chr4:68603450 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.465C>T (p.Val155=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151796] Chr4:67753871 [GRCh38]
Chr4:68619589 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3 copy number gain Cognitive impairment [RCV001004821] Chr4:66969699..69462438 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*78G>A single nucleotide variant not provided [RCV001547866] Chr4:67740402 [GRCh38]
Chr4:68606120 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.*1532C>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151691] Chr4:67738948 [GRCh38]
Chr4:68604666 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1464G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001151897] Chr4:67755799 [GRCh38]
Chr4:68621517 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2772A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155465] Chr4:67737708 [GRCh38]
Chr4:68603426 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2244T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157146] Chr4:67738236 [GRCh38]
Chr4:68603954 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*622T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157253] Chr4:67739858 [GRCh38]
Chr4:68605576 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*474T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001157254] Chr4:67740006 [GRCh38]
Chr4:68605724 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.-8G>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153046]|not provided [RCV001759909] Chr4:67754343 [GRCh38]
Chr4:68620061 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2441T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155469] Chr4:67738039 [GRCh38]
Chr4:68603757 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.2(GNRHR):c.-699T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155666] Chr4:67755034 [GRCh38]
Chr4:68620752 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*3011T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001154629] Chr4:67737469 [GRCh38]
Chr4:68603187 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*2767T>C single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001155466] Chr4:67737713 [GRCh38]
Chr4:68603431 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.*928C>A single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152931] Chr4:67739552 [GRCh38]
Chr4:68605270 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.*912C>T single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001152932] Chr4:67739568 [GRCh38]
Chr4:68605286 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.2(GNRHR):c.-1702A>G single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001153157] Chr4:67756037 [GRCh38]
Chr4:68621755 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1		 pathogenic
NM_000406.3(GNRHR):c.742+35C>T single nucleotide variant not provided [RCV001666811] Chr4:67744533 [GRCh38]
Chr4:68610251 [GRCh37]
Chr4:4q13.2		 benign
NM_000406.3(GNRHR):c.969T>C (p.Tyr323=) single nucleotide variant not provided [RCV003108671] Chr4:67740498 [GRCh38]
Chr4:68606216 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.836G>A (p.Cys279Tyr) single nucleotide variant not provided [RCV001733271] Chr4:67740631 [GRCh38]
Chr4:68606349 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.677T>C (p.Ile226Thr) single nucleotide variant not provided [RCV001767389] Chr4:67744633 [GRCh38]
Chr4:68610351 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.430A>C (p.Thr144Pro) single nucleotide variant not provided [RCV001765168] Chr4:67753906 [GRCh38]
Chr4:68619624 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.156del (p.Phe52fs) deletion not provided [RCV001818051] Chr4:67754180 [GRCh38]
Chr4:68619898 [GRCh37]
Chr4:4q13.2		 likely pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_000406.3(GNRHR):c.247C>G (p.Leu83Val) single nucleotide variant not provided [RCV002025874] Chr4:67754089 [GRCh38]
Chr4:68619807 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) copy number loss not specified [RCV002053422] Chr4:61867555..74711517 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
NM_000406.3(GNRHR):c.73C>A (p.Gln25Lys) single nucleotide variant not provided [RCV001913946] Chr4:67754263 [GRCh38]
Chr4:68619981 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV003225761]|not provided [RCV002024394] Chr4:67740670 [GRCh38]
Chr4:68606388 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
GRCh37/hg19 4q13.2(chr4:68272006-68923410) copy number gain not specified [RCV002053424] Chr4:68272006..68923410 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q13.2(chr4:67997060-69198391) copy number gain not specified [RCV002053423] Chr4:67997060..69198391 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.820A>G (p.Thr274Ala) single nucleotide variant not provided [RCV001962247] Chr4:67740647 [GRCh38]
Chr4:68606365 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.401T>G (p.Val134Gly) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002497886]|not provided [RCV001972778] Chr4:67753935 [GRCh38]
Chr4:68619653 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.415C>T (p.Arg139Cys) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002210937] Chr4:67753921 [GRCh38]
Chr4:68619639 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.742+17G>A single nucleotide variant not provided [RCV002140186] Chr4:67744551 [GRCh38]
Chr4:68610269 [GRCh37]
Chr4:4q13.2		 benign
NM_000406.3(GNRHR):c.845C>T (p.Pro282Leu) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002290235] Chr4:67740622 [GRCh38]
Chr4:68606340 [GRCh37]
Chr4:4q13.2		 likely pathogenic
GRCh37/hg19 4q13.2(chr4:68485743-69138293)x3 copy number gain not provided [RCV002473874] Chr4:68485743..69138293 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q13.2(chr4:67729321-68949586)x3 copy number gain not provided [RCV002472743] Chr4:67729321..68949586 [GRCh37]
Chr4:4q13.2		 uncertain significance
GRCh37/hg19 4q13.1-13.2(chr4:66215872-68647080)x1 copy number loss not provided [RCV002473432] Chr4:66215872..68647080 [GRCh37]
Chr4:4q13.1-13.2		 uncertain significance
NM_000406.3(GNRHR):c.868T>C (p.Tyr290His) single nucleotide variant not provided [RCV002305911] Chr4:67740599 [GRCh38]
Chr4:68606317 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.187T>C (p.Trp63Arg) single nucleotide variant Inborn genetic diseases [RCV002727399] Chr4:67754149 [GRCh38]
Chr4:68619867 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.540G>A (p.Met180Ile) single nucleotide variant Inborn genetic diseases [RCV002752635] Chr4:67744770 [GRCh38]
Chr4:68610488 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.416G>T (p.Arg139Leu) single nucleotide variant not provided [RCV002838481] Chr4:67753920 [GRCh38]
Chr4:68619638 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.848A>C (p.Tyr283Ser) single nucleotide variant not provided [RCV002820378] Chr4:67740619 [GRCh38]
Chr4:68606337 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.840G>C (p.Trp280Cys) single nucleotide variant not provided [RCV002998711] Chr4:67740627 [GRCh38]
Chr4:68606345 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.285G>T (p.Met95Ile) single nucleotide variant not provided [RCV002640042] Chr4:67754051 [GRCh38]
Chr4:68619769 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.910G>C (p.Val304Leu) single nucleotide variant Inborn genetic diseases [RCV002826242] Chr4:67740557 [GRCh38]
Chr4:68606275 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.202G>A (p.Glu68Lys) single nucleotide variant Inborn genetic diseases [RCV002787628] Chr4:67754134 [GRCh38]
Chr4:68619852 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV002664343] Chr4:67754334 [GRCh38]
Chr4:68620052 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.784C>T (p.Arg262Trp) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005045238]|not provided [RCV003061549] Chr4:67740683 [GRCh38]
Chr4:68606401 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
NM_000406.3(GNRHR):c.380C>T (p.Ala127Val) single nucleotide variant Inborn genetic diseases [RCV004073298]|not provided [RCV003088764] Chr4:67753956 [GRCh38]
Chr4:68619674 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.172T>C (p.Leu58=) single nucleotide variant not provided [RCV002629254] Chr4:67754164 [GRCh38]
Chr4:68619882 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.652T>C (p.Cys218Arg) single nucleotide variant Inborn genetic diseases [RCV003211184] Chr4:67744658 [GRCh38]
Chr4:68610376 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.35del (p.Asn12fs) deletion Hypogonadotropic hypogonadism 7 with or without anosmia [RCV003324361] Chr4:67754301 [GRCh38]
Chr4:68620019 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.521A>G (p.Gln174Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV003331694] Chr4:67753815 [GRCh38]
Chr4:68619533 [GRCh37]
Chr4:4q13.2		 pathogenic
GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1 copy number loss not provided [RCV003485417] Chr4:57584845..72430996 [GRCh37]
Chr4:4q12-13.3		 pathogenic
NM_000406.3(GNRHR):c.847T>C (p.Tyr283His) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV004690444]|not provided [RCV003571496] Chr4:67740620 [GRCh38]
Chr4:68606338 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3 copy number gain not provided [RCV003484182] Chr4:63684557..71480358 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
NM_000406.3(GNRHR):c.528C>T (p.Tyr176=) single nucleotide variant not provided [RCV003670352] Chr4:67744782 [GRCh38]
Chr4:68610500 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.351_352del (p.Ser118fs) deletion Isolated congenital hypogonadotropic hypogonadism [RCV004017999]|not provided [RCV003680976] Chr4:67753984..67753985 [GRCh38]
Chr4:68619702..68619703 [GRCh37]
Chr4:4q13.2		 pathogenic|likely pathogenic
NM_000406.3(GNRHR):c.113G>A (p.Arg38Gln) single nucleotide variant not provided [RCV003860661] Chr4:67754223 [GRCh38]
Chr4:68619941 [GRCh37]
Chr4:4q13.2		 likely pathogenic|uncertain significance
GRCh37/hg19 4q13.1-13.2(chr4:65646937-68662306)x3 copy number gain not specified [RCV003986482] Chr4:65646937..68662306 [GRCh37]
Chr4:4q13.1-13.2		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_000406.3(GNRHR):c.120G>A (p.Thr40=) single nucleotide variant GNRHR-related disorder [RCV003974190] Chr4:67754216 [GRCh38]
Chr4:68619934 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.225A>C (p.Arg75Ser) single nucleotide variant Inborn genetic diseases [RCV004395576] Chr4:67754111 [GRCh38]
Chr4:68619829 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.373A>G (p.Met125Val) single nucleotide variant Inborn genetic diseases [RCV004395577] Chr4:67753963 [GRCh38]
Chr4:68619681 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.718C>T (p.Arg240Trp) single nucleotide variant not specified [RCV004526484] Chr4:67744592 [GRCh38]
Chr4:68610310 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.746T>C (p.Leu249Pro) single nucleotide variant Inborn genetic diseases [RCV004395578] Chr4:67740721 [GRCh38]
Chr4:68606439 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.888G>C (p.Met296Ile) single nucleotide variant Inborn genetic diseases [RCV004395580] Chr4:67740579 [GRCh38]
Chr4:68606297 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.386C>T (p.Ala129Val) single nucleotide variant not specified [RCV004587755] Chr4:67753950 [GRCh38]
Chr4:68619668 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.488C>A (p.Ala163Asp) single nucleotide variant not provided [RCV004697655] Chr4:67753848 [GRCh38]
Chr4:68619566 [GRCh37]
Chr4:4q13.2		 likely pathogenic
NM_000406.3(GNRHR):c.248del (p.Leu83fs) deletion See cases [RCV004579613] Chr4:67754088 [GRCh38]
Chr4:68619806 [GRCh37]
Chr4:4q13.2		 likely pathogenic
NM_000406.3(GNRHR):c.808G>A (p.Val270Ile) single nucleotide variant Inborn genetic diseases [RCV004629932] Chr4:67740659 [GRCh38]
Chr4:68606377 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.822T>G (p.Thr274=) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV004819056] Chr4:67740645 [GRCh38]
Chr4:68606363 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.777A>T (p.Pro259=) single nucleotide variant GNRHR-related disorder [RCV004748245] Chr4:67740690 [GRCh38]
Chr4:68606408 [GRCh37]
Chr4:4q13.2		 likely pathogenic
NM_000406.3(GNRHR):c.401T>C (p.Val134Ala) single nucleotide variant not provided [RCV004769610] Chr4:67753935 [GRCh38]
Chr4:68619653 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.918CTT[2] (p.Phe309del) microsatellite Hypogonadotropic hypogonadism 7 with or without anosmia [RCV004795809] Chr4:67740541..67740543 [GRCh38]
Chr4:68606259..68606261 [GRCh37]
Chr4:4q13.2		 likely pathogenic
NM_000406.3(GNRHR):c.683T>C (p.Leu228Pro) single nucleotide variant Inborn genetic diseases [RCV004983753] Chr4:67744627 [GRCh38]
Chr4:68610345 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.89C>T (p.Thr30Ile) single nucleotide variant Inborn genetic diseases [RCV004982681] Chr4:67754247 [GRCh38]
Chr4:68619965 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.863T>A (p.Ile288Asn) single nucleotide variant Inborn genetic diseases [RCV004982684] Chr4:67740604 [GRCh38]
Chr4:68606322 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.741C>T (p.His247=) single nucleotide variant Inborn genetic diseases [RCV004982682] Chr4:67744569 [GRCh38]
Chr4:68610287 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.9C>G (p.Asn3Lys) single nucleotide variant Inborn genetic diseases [RCV004982683] Chr4:67754327 [GRCh38]
Chr4:68620045 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.497T>C (p.Leu166Pro) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005039235] Chr4:67753839 [GRCh38]
Chr4:68619557 [GRCh37]
Chr4:4q13.2		 likely pathogenic
NM_000406.3(GNRHR):c.583C>T (p.Gln195Ter) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005039233] Chr4:67744727 [GRCh38]
Chr4:68610445 [GRCh37]
Chr4:4q13.2		 likely pathogenic
NM_000406.3(GNRHR):c.710C>A (p.Thr237Asn) single nucleotide variant not provided [RCV005066927] Chr4:67744600 [GRCh38]
Chr4:68610318 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.469C>T (p.Gln157Ter) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005039236] Chr4:67753867 [GRCh38]
Chr4:68619585 [GRCh37]
Chr4:4q13.2		 likely pathogenic
NM_000406.3(GNRHR):c.113dup (p.Val39fs) duplication Hypogonadotropic hypogonadism 7 with or without anosmia [RCV005039237] Chr4:67754222..67754223 [GRCh38]
Chr4:68619940..68619941 [GRCh37]
Chr4:4q13.2		 pathogenic
NM_000406.3(GNRHR):c.710C>T (p.Thr237Ile) single nucleotide variant not provided [RCV005205669] Chr4:67744600 [GRCh38]
Chr4:68610318 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.512C>T (p.Ala171Val) single nucleotide variant not provided [RCV005138250] Chr4:67753824 [GRCh38]
Chr4:68619542 [GRCh37]
Chr4:4q13.2		 likely pathogenic
NM_000406.3(GNRHR):c.533T>G (p.Phe178Cys) single nucleotide variant not provided [RCV005167659] Chr4:67744777 [GRCh38]
Chr4:68610495 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.887T>A (p.Met296Lys) single nucleotide variant not provided [RCV005084239] Chr4:67740580 [GRCh38]
Chr4:68606298 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.432G>A (p.Thr144=) single nucleotide variant not provided [RCV005068650] Chr4:67753904 [GRCh38]
Chr4:68619622 [GRCh37]
Chr4:4q13.2		 likely benign
NM_000406.3(GNRHR):c.299T>G (p.Met100Arg) single nucleotide variant not provided [RCV005073613] Chr4:67754037 [GRCh38]
Chr4:68619755 [GRCh37]
Chr4:4q13.2		 uncertain significance
NM_000406.3(GNRHR):c.319T>C (p.Trp107Arg) single nucleotide variant not provided [RCV005183071] Chr4:67754017 [GRCh38]
Chr4:68619735 [GRCh37]
Chr4:4q13.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:435
Count of miRNA genes:350
Interacting mature miRNAs:370
Transcripts:ENST00000226413, ENST00000420975
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597489462GWAS1585536_HC-X-C motif chemokine 10 measurement QTL GWAS1585536 (human)2e-09C-X-C motif chemokine 10 measurement46774167467741675Human
597461366GWAS1557440_Hsocial interaction measurement QTL GWAS1557440 (human)7e-09social interaction measurementvoluntary social interaction measurement (CMO:0002676)46775247367752474Human

Markers in Region
WI-16095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,609,162 - 68,609,266UniSTSGRCh37
Build 36468,291,757 - 68,291,861RGDNCBI36
Celera466,071,528 - 66,071,632RGD
Cytogenetic Map4q21.2UniSTS
HuRef464,522,347 - 64,522,451UniSTS
GeneMap99-GB4 RH Map4422.68UniSTS
Whitehead-RH Map4476.6UniSTS
SHGC-60090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,605,602 - 68,605,792UniSTSGRCh37
Build 36468,288,197 - 68,288,387RGDNCBI36
Celera466,067,968 - 66,068,158RGD
Cytogenetic Map4q21.2UniSTS
HuRef464,518,787 - 64,518,977UniSTS
TNG Radiation Hybrid Map437338.0UniSTS
D4S3174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,605,162 - 68,605,276UniSTSGRCh37
Build 36468,287,757 - 68,287,871RGDNCBI36
Celera466,067,528 - 66,067,642RGD
Cytogenetic Map4q21.2UniSTS
HuRef464,518,347 - 64,518,461UniSTS
Stanford-G3 RH Map43814.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4808.3UniSTS
SHGC-59524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,606,042 - 68,606,165UniSTSGRCh37
Build 36468,288,637 - 68,288,760RGDNCBI36
Celera466,068,408 - 66,068,531RGD
Cytogenetic Map4q21.2UniSTS
HuRef464,519,227 - 64,519,350UniSTS
GeneMap99-GB4 RH Map4401.07UniSTS
NCBI RH Map4822.7UniSTS
GNRHR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37468,619,636 - 68,619,894UniSTSGRCh37
Build 36468,302,231 - 68,302,489RGDNCBI36
Celera466,082,003 - 66,082,261RGD
HuRef464,532,821 - 64,533,079UniSTS
GDB:437520  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q21.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1007 2189 2343 1971 4560 1580 2055 3 503 1267 343 1890 5749 5248 10 3581 783 1623 1451 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001012763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY392011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS052866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L03380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z81148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000226413   ⟹   ENSP00000226413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl467,737,118 - 67,754,388 (-)Ensembl
Ensembl Acc Id: ENST00000420975   ⟹   ENSP00000397561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl467,740,480 - 67,754,335 (-)Ensembl
RefSeq Acc Id: NM_000406   ⟹   NP_000397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38467,737,118 - 67,754,388 (-)NCBI
GRCh37468,603,093 - 68,621,804 (-)ENTREZGENE
Build 36468,285,688 - 68,304,399 (-)NCBI Archive
HuRef464,516,278 - 64,534,988 (-)ENTREZGENE
CHM1_1468,640,204 - 68,658,910 (-)NCBI
T2T-CHM13v2.0471,180,228 - 71,197,499 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001012763   ⟹   NP_001012781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38467,737,375 - 67,754,388 (-)NCBI
GRCh37468,603,093 - 68,621,804 (-)ENTREZGENE
Build 36468,285,688 - 68,304,399 (-)NCBI Archive
HuRef464,516,278 - 64,534,988 (-)ENTREZGENE
CHM1_1468,640,204 - 68,658,910 (-)NCBI
T2T-CHM13v2.0471,180,485 - 71,197,499 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001012781   ⟸   NM_001012763
- Peptide Label: isoform 2
- UniProtKB: P30968 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000397   ⟸   NM_000406
- Peptide Label: isoform 1
- UniProtKB: Q14D13 (UniProtKB/Swiss-Prot),   O75793 (UniProtKB/Swiss-Prot),   Q92644 (UniProtKB/Swiss-Prot),   P30968 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000397561   ⟸   ENST00000420975
Ensembl Acc Id: ENSP00000226413   ⟸   ENST00000226413
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P30968-F1-model_v2 AlphaFold P30968 1-328 view protein structure

Promoters
RGD ID:6867566
Promoter ID:EPDNEW_H6948
Type:initiation region
Name:GNRHR_1
Description:gonadotropin releasing hormone receptor
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
GRCh38467,754,388 - 67,754,448EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4421 AgrOrtholog
COSMIC GNRHR COSMIC
Ensembl Genes ENSG00000109163 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000226413 ENTREZGENE
  ENST00000226413.5 UniProtKB/Swiss-Prot
  ENST00000420975 ENTREZGENE
  ENST00000420975.2 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000109163 GTEx
HGNC ID HGNC:4421 ENTREZGENE
Human Proteome Map GNRHR Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
  GphnRH_fam_rcpt UniProtKB/Swiss-Prot
KEGG Report hsa:2798 UniProtKB/Swiss-Prot
NCBI Gene 2798 ENTREZGENE
OMIM 138850 OMIM
PANTHER GONADOTROPIN-RELEASING HORMONE RECEPTOR UniProtKB/Swiss-Prot
  NEUROPEPTIDE RECEPTOR-RELATED G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB PA28800 PharmGKB
PRINTS GNADOTRPHINR UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt GNRHR_HUMAN UniProtKB/Swiss-Prot
  O75793 ENTREZGENE
  P30968 ENTREZGENE
  Q14D13 ENTREZGENE
  Q92644 ENTREZGENE
  V9GZJ6_HUMAN UniProtKB/TrEMBL
  V9GZN9_HUMAN UniProtKB/TrEMBL
UniProt Secondary O75793 UniProtKB/Swiss-Prot
  Q14D13 UniProtKB/Swiss-Prot
  Q92644 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 GNRHR  gonadotropin releasing hormone receptor    gonadotropin-releasing hormone receptor  Symbol and/or name change 5135510 APPROVED
2011-08-16 GNRHR  gonadotropin-releasing hormone receptor  GNRHR  gonadotropin-releasing hormone receptor  Symbol and/or name change 5135510 APPROVED