GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) Homo sapiens
Analyze
Symbol: GRIN1
Name: glutamate ionotropic receptor NMDA type subunit 1
RGD ID: 731784
HGNC Page HGNC
Description: Exhibits amino acid binding activity and ionotropic glutamate receptor activity. Contributes to calcium channel activity. Involved in several processes, including calcium ion transmembrane import into cytosol; ionotropic glutamate receptor signaling pathway; and response to glycine. Localizes to NMDA selective glutamate receptor complex and dendrite. Implicated in alcohol use disorder; autosomal dominant non-syndromic intellectual disability 8; and cerebral infarction. Biomarker of Alzheimer's disease and vascular dementia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GluN1; glutamate [NMDA] receptor subunit zeta 1; glutamate [NMDA] receptor subunit zeta-1; glutamate receptor ionotropic, NMDA 1; glutamate receptor, ionotropic, N-methyl D-aspartate 1; MRD8; N-methyl-D-aspartate receptor channel, subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1; NDHMSD; NDHMSR; NMD-R1; NMDA1; NMDAR1; NR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9137,139,154 - 137,168,756 (+)EnsemblGRCh38hg38GRCh38
GRCh389137,139,092 - 137,168,759 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379140,033,606 - 140,063,208 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,153,430 - 139,183,029 (+)NCBINCBI36hg18NCBI36
Build 349137,308,678 - 137,339,043NCBI
Celera9110,548,072 - 110,577,040 (+)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9109,493,914 - 109,523,231 (+)NCBIHuRef
CHM1_19140,182,355 - 140,211,903 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(R)-lipoic acid  (ISO)
(S)-3,5-dihydroxyphenylglycine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
2-methylcholine  (EXP)
26-hydroxycholesterol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
4-[1-hydroxy-2-[4-(phenylmethyl)-1-piperidinyl]propyl]phenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
agmatine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
androgen antagonist  (ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (ISO)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Butylparaben  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
capsaicin  (ISO)
celecoxib  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
clozapine  (ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
D-glucose  (ISO)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dextromethorphan  (ISO)
diarsenic trioxide  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
dopamine  (ISO)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
excitatory amino acid agonist  (EXP,ISO)
felbamate  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
fulvestrant  (ISO)
gamma-tocopherol  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
haloperidol  (ISO)
herbicide  (ISO)
homocysteine  (ISO)
kainic acid  (ISO)
ketamine  (ISO)
KT 5720  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
lead(2+)  (EXP,ISO)
lead(II) chloride  (ISO)
linuron  (ISO)
lipoic acid  (ISO)
lipoteichoic acid  (ISO)
lithium chloride  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
melamine  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
nobiletin  (ISO)
Nonylphenol  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
notoginsenoside R1  (EXP)
ochratoxin A  (EXP)
oxidopamine  (ISO)
oxybenzone  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (ISO)
PCB138  (ISO)
pentobarbital  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phencyclidine  (ISO)
phenytoin  (ISO)
picloram  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
resveratrol  (ISO)
semicarbazide  (EXP)
SKF 38393  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
sulfur dioxide  (ISO)
sulindac  (ISO)
thimerosal  (ISO)
titanium dioxide  (ISO)
tocopherol  (ISO)
toluene  (ISO)
tributylstannane  (ISO)
trichlopyr  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult locomotory behavior  (ISO)
associative learning  (ISO)
brain development  (NAS)
calcium ion homeostasis  (ISO,ISS)
calcium ion transmembrane import into cytosol  (IDA)
calcium ion transport  (ISO)
calcium-mediated signaling  (IEA)
cation transport  (IDA,ISO)
cellular calcium ion homeostasis  (ISO)
cellular response to amyloid-beta  (IGI)
cellular response to manganese ion  (ISO)
cerebral cortex development  (ISO)
chemical synaptic transmission  (IBA)
conditioned taste aversion  (ISO)
ephrin receptor signaling pathway  (TAS)
excitatory chemical synaptic transmission  (NAS)
excitatory postsynaptic potential  (ISO,ISS)
ion transmembrane transport  (IEA)
ionotropic glutamate receptor signaling pathway  (IBA,IEA,IMP,ISO,ISS)
learning  (ISO)
learning or memory  (ISO)
long-term memory  (ISO)
male mating behavior  (ISO)
MAPK cascade  (TAS)
memory  (ISO)
negative regulation of neuron apoptotic process  (ISO)
neuromuscular process  (ISO)
olfactory learning  (ISO)
pons maturation  (ISO)
positive regulation of apoptotic process  (ISO)
positive regulation of calcium ion transport into cytosol  (ISS)
positive regulation of cell death  (ISO)
positive regulation of cysteine-type endopeptidase activity  (ISS)
positive regulation of dendritic spine maintenance  (ISO)
positive regulation of excitatory postsynaptic potential  (ISS)
positive regulation of reactive oxygen species biosynthetic process  (ISS)
positive regulation of Schwann cell migration  (ISO)
positive regulation of transcription by RNA polymerase II  (ISO,ISS)
prepulse inhibition  (ISO)
propylene metabolic process  (ISS)
protein heterotetramerization  (ISS)
protein localization to postsynaptic membrane  (ISO)
protein-containing complex assembly  (ISO)
regulation of axonogenesis  (ISO)
regulation of cell communication  (ISO)
regulation of dendrite morphogenesis  (ISO)
regulation of long-term neuronal synaptic plasticity  (ISO)
regulation of membrane potential  (IBA,IDA,ISO)
regulation of neuron apoptotic process  (ISO)
regulation of neuronal synaptic plasticity  (ISO)
regulation of NMDA receptor activity  (TAS)
regulation of respiratory gaseous exchange  (ISO)
regulation of synapse assembly  (ISO)
regulation of synaptic plasticity  (ISO,NAS)
response to amine  (ISO)
response to amphetamine  (ISO)
response to calcium ion  (ISO)
response to ethanol  (IDA)
response to fungicide  (ISO)
response to glycine  (IDA)
response to morphine  (ISO)
response to organic cyclic compound  (ISO)
rhythmic process  (ISO)
sensory perception of pain  (ISO)
social behavior  (ISO)
startle response  (ISO)
suckling behavior  (ISO)
synaptic transmission, glutamatergic  (ISO)
visual learning  (ISO,ISS)

Molecular Pathway Annotations     Click to see Annotation Detail View
alfentanil pharmacodynamics pathway  (EXP)
Alzheimer's disease pathway  (IEA)
amyotrophic lateral sclerosis pathway  (IEA)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
calcium/calmodulin dependent kinase 2 signaling pathway  (TAS)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
excitatory synaptic transmission pathway  (ISO)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
glutamate signaling pathway  (IEA)
heroin pharmacodynamics pathway  (EXP)
Huntington's disease pathway  (IEA)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term potentiation  (IEA)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
methadone pharmacokinetics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal hippocampus morphology  (IAGP)
Absent speech  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral generalized polymicrogyria  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Constipation  (IAGP)
Delayed ability to walk  (IAGP)
Developmental regression  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilation of lateral ventricles  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Expressive language delay  (IAGP)
Eyelid myoclonus  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Focal emotional seizure with laughing  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal motor seizure  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hemimegalencephaly  (IAGP)
Hyperkinetic movements  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic hippocampus  (IAGP)
Impaired mastication  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Involuntary movements  (IAGP)
Leukoencephalopathy  (IAGP)
Macrocephaly  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Mutism  (IAGP)
Myoclonus  (IAGP)
Nasogastric tube feeding  (IAGP)
Oculogyric crisis  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Paroxysmal dyskinesia  (IAGP)
Polymicrogyria  (IAGP)
Poor eye contact  (IAGP)
Poor speech  (IAGP)
Profound global developmental delay  (IAGP)
Prostate cancer  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Sleep disturbance  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Total ophthalmoplegia  (IAGP)
Typical absence seizure  (IAGP)
Widened subarachnoid space  (IAGP)
References

References - curated
1. Coultrap SJ and Bayer KU, Trends Neurosci. 2012 Oct;35(10):607-18. doi: 10.1016/j.tins.2012.05.003. Epub 2012 Jun 19.
2. Dos-Anjos S, etal., Neuroscience. 2009 Dec 15;164(3):1119-26. Epub 2009 Sep 15.
3. GOA_HUMAN data from the GO Consortium
4. Ishihama K, etal., Arch Histol Cytol. 2005 Dec;68(4):321-35.
5. Jiang X, etal., Neurobiol Aging. 2015 Feb;36(2):867-76. doi: 10.1016/j.neurobiolaging.2014.10.018. Epub 2014 Oct 16.
6. Kalev-Zylinska ML, etal., Stroke. 2013 Aug;44(8):2212-9. doi: 10.1161/STROKEAHA.113.001235. Epub 2013 May 30.
7. Leuba G, etal., Curr Alzheimer Res. 2014 Jan;11(1):86-96.
8. Mehta SL, etal., J Neurosci. 2015 Dec 16;35(50):16443-9. doi: 10.1523/JNEUROSCI.2943-15.2015.
9. Mohamed NE, etal., J Alzheimers Dis. 2015;44(2):431-7. doi: 10.3233/JAD-141764.
10. Monyer H, etal., Science 1992 May 22;256(5060):1217-21.
11. OMIM Disease Annotation Pipeline
12. Online Mendelian Inheritance in Man, OMIM (TM).
13. Pipeline to import KEGG annotations from KEGG into RGD
14. Pipeline to import SMPDB annotations from SMPDB into RGD
15. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. RGD automated import pipeline for gene-chemical interactions
17. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Schober ME, etal., Am J Physiol Regul Integr Comp Physiol. 2009 Mar;296(3):R681-92. Epub 2009 Jan 14.
19. Wei B, etal., Brain Res. 2016 Jan 15;1631:157-64. doi: 10.1016/j.brainres.2015.11.041. Epub 2015 Dec 2.
20. Wernicke C, etal., Biol Psychiatry. 2003 Nov 1;54(9):922-8.
Additional References at PubMed
PMID:7622053   PMID:7679115   PMID:7681588   PMID:7685113   PMID:7695237   PMID:7926821   PMID:8139656   PMID:8316301   PMID:8406025   PMID:8406459   PMID:8563977   PMID:8581564  
PMID:8615909   PMID:8625412   PMID:8665664   PMID:8724036   PMID:8768735   PMID:8783260   PMID:8804048   PMID:8821747   PMID:8822372   PMID:8845955   PMID:8889548   PMID:8955056  
PMID:9009191   PMID:9030583   PMID:9231706   PMID:9425014   PMID:9481670   PMID:9482789   PMID:9502803   PMID:9620802   PMID:9651389   PMID:9670010   PMID:9694809   PMID:9721050  
PMID:9728925   PMID:9745929   PMID:9835392   PMID:9952395   PMID:10049997   PMID:10197777   PMID:10373510   PMID:10448428   PMID:10480938   PMID:10518580   PMID:10555109   PMID:10749211  
PMID:10862698   PMID:11109007   PMID:11136979   PMID:11140673   PMID:11140838   PMID:11160393   PMID:11279200   PMID:11483648   PMID:11506858   PMID:11588171   PMID:11606043   PMID:11754835  
PMID:11803122   PMID:11897110   PMID:11937501   PMID:12008020   PMID:12068077   PMID:12082569   PMID:12191494   PMID:12210277   PMID:12363394   PMID:12391275   PMID:12408866   PMID:12414113  
PMID:12610658   PMID:12646920   PMID:12679240   PMID:12707933   PMID:12746393   PMID:12753088   PMID:12775422   PMID:12815021   PMID:12893641   PMID:14575242   PMID:14602821   PMID:14622581  
PMID:14644469   PMID:14732708   PMID:14970236   PMID:14973229   PMID:15030408   PMID:15030493   PMID:15069201   PMID:15255944   PMID:15265015   PMID:15338240   PMID:15448144   PMID:15531111  
PMID:15564900   PMID:15635650   PMID:15721239   PMID:15749123   PMID:15841096   PMID:15888440   PMID:16140270   PMID:16189506   PMID:16272960   PMID:16289038   PMID:16332682   PMID:16476413  
PMID:16481105   PMID:16489129   PMID:16510730   PMID:16697675   PMID:16767099   PMID:16969270   PMID:17047094   PMID:17255096   PMID:17284422   PMID:17360663   PMID:17459877   PMID:17506933  
PMID:17526495   PMID:17728671   PMID:17997397   PMID:18068304   PMID:18182392   PMID:18296432   PMID:18445116   PMID:18606955   PMID:18644839   PMID:18792810   PMID:18990687   PMID:18991843  
PMID:19020013   PMID:19036954   PMID:19095845   PMID:19156168   PMID:19328558   PMID:19422642   PMID:19487695   PMID:19488045   PMID:19526283   PMID:19602553   PMID:19635471   PMID:19784770  
PMID:19811606   PMID:19874574   PMID:20007519   PMID:20097831   PMID:20237496   PMID:20414717   PMID:20438806   PMID:20468064   PMID:20634195   PMID:20722663   PMID:20848605   PMID:20974228  
PMID:21491143   PMID:21670103   PMID:21753020   PMID:21873635   PMID:21883149   PMID:21948112   PMID:22040728   PMID:22114277   PMID:22196339   PMID:22300668   PMID:22354721   PMID:22375001  
PMID:22383529   PMID:22448134   PMID:22486492   PMID:22544902   PMID:22552781   PMID:22711533   PMID:22726567   PMID:22833210   PMID:22889411   PMID:22937865   PMID:22940423   PMID:22952988  
PMID:23070074   PMID:23267846   PMID:23271275   PMID:23621516   PMID:23665428   PMID:23726511   PMID:23840674   PMID:23864692   PMID:23880023   PMID:23933820   PMID:23999527   PMID:24086760  
PMID:24227730   PMID:24292102   PMID:24655651   PMID:24739951   PMID:25017909   PMID:25232120   PMID:25431428   PMID:25613138   PMID:25683482   PMID:25760043   PMID:25864721   PMID:26013316  
PMID:26253177   PMID:26584860   PMID:26819771   PMID:26875626   PMID:26919761   PMID:27164704   PMID:27443784   PMID:27596138   PMID:27831563   PMID:28051072   PMID:28105280   PMID:28228639  
PMID:28244984   PMID:28262924   PMID:28298427   PMID:28378791   PMID:28389307   PMID:28702665   PMID:29057721   PMID:29194067   PMID:29339073   PMID:29365063   PMID:29676528   PMID:29987050  
PMID:30200940   PMID:30482728   PMID:30590034   PMID:30704411   PMID:30776697   PMID:31025605   PMID:31219694   PMID:31429998   PMID:31444392   PMID:31512412   PMID:31875540   PMID:32289863  
PMID:32814053   PMID:33023061   PMID:33122756   PMID:33491170  


Genomics

Comparative Map Data
GRIN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9137,139,154 - 137,168,756 (+)EnsemblGRCh38hg38GRCh38
GRCh389137,139,092 - 137,168,759 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379140,033,606 - 140,063,208 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,153,430 - 139,183,029 (+)NCBINCBI36hg18NCBI36
Build 349137,308,678 - 137,339,043NCBI
Celera9110,548,072 - 110,577,040 (+)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9109,493,914 - 109,523,231 (+)NCBIHuRef
CHM1_19140,182,355 - 140,211,903 (+)NCBICHM1_1
Grin1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39225,181,189 - 25,209,199 (-)NCBIGRCm39mm39
GRCm39 Ensembl225,181,193 - 25,209,199 (-)Ensembl
GRCm38225,291,177 - 25,319,187 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl225,291,181 - 25,319,187 (-)EnsemblGRCm38mm10GRCm38
MGSCv37225,146,697 - 25,174,683 (-)NCBIGRCm37mm9NCBIm37
MGSCv36225,114,256 - 25,140,988 (-)NCBImm8
Celera225,018,687 - 25,046,664 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map217.14NCBI
Grin1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.238,103,680 - 8,130,603 (-)NCBI
Rnor_6.0 Ensembl32,506,896 - 2,534,663 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.032,507,745 - 2,534,664 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.032,489,158 - 2,516,082 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.433,453,784 - 3,480,381 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.133,453,783 - 3,480,381 (-)NCBI
Celera32,930,222 - 2,957,142 (-)NCBICelera
Cytogenetic Map3p13NCBI
Grin1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555135,154,864 - 5,178,636 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555135,154,864 - 5,178,636 (+)NCBIChiLan1.0ChiLan1.0
GRIN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19137,168,543 - 137,198,297 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9137,168,722 - 137,197,382 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09108,198,350 - 108,228,887 (+)NCBIMhudiblu_PPA_v0panPan3
GRIN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1948,492,967 - 48,513,981 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl948,493,287 - 48,509,050 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,683,789 - 47,707,011 (-)NCBI
ROS_Cfam_1.0949,357,798 - 49,382,176 (-)NCBI
UMICH_Zoey_3.1948,135,045 - 48,158,254 (-)NCBI
UNSW_CanFamBas_1.0948,433,856 - 48,457,059 (-)NCBI
UU_Cfam_GSD_1.0948,481,015 - 48,504,246 (-)NCBI
Grin1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947202,536,077 - 202,560,723 (+)NCBI
SpeTri2.0NW_004936669814,330 - 838,881 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRIN1
(Sus scrofa - pig)
No map positions available.
GRIN1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1121,020,556 - 1,050,568 (-)NCBI
ChlSab1.1 Ensembl121,019,263 - 1,050,231 (-)Ensembl
Grin1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624760777,208 - 800,525 (-)NCBI

Position Markers
GDB:451867  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10455
Count of miRNA genes:971
Interacting mature miRNAs:1226
Transcripts:ENST00000315048, ENST00000350902, ENST00000371546, ENST00000371550, ENST00000371553, ENST00000371555, ENST00000371559, ENST00000371560, ENST00000371561, ENST00000460273, ENST00000462584, ENST00000471122, ENST00000473811, ENST00000485413
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 3 2 37 1 1 2488 1 11 14 37 1
Low 1389 41 131 133 391 19 1407 190 334 14 734 225 120 28 673 1
Below cutoff 1016 2706 1378 279 1277 271 2642 1862 830 203 626 1309 12 1101 1922 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF015730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF015731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL929554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU728516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S57708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U08106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U08107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000350902   ⟹   ENSP00000316915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,175 - 137,165,422 (+)Ensembl
RefSeq Acc Id: ENST00000371546   ⟹   ENSP00000360601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,481 - 137,168,755 (+)Ensembl
RefSeq Acc Id: ENST00000371550   ⟹   ENSP00000360605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,481 - 137,168,755 (+)Ensembl
RefSeq Acc Id: ENST00000371553   ⟹   ENSP00000360608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,481 - 137,168,755 (+)Ensembl
RefSeq Acc Id: ENST00000371555   ⟹   ENSP00000360610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,481 - 137,168,755 (+)Ensembl
RefSeq Acc Id: ENST00000371559   ⟹   ENSP00000360614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,481 - 137,168,755 (+)Ensembl
RefSeq Acc Id: ENST00000371560   ⟹   ENSP00000360615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,481 - 137,168,755 (+)Ensembl
RefSeq Acc Id: ENST00000371561   ⟹   ENSP00000360616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,154 - 137,168,756 (+)Ensembl
RefSeq Acc Id: ENST00000460273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,162,706 - 137,164,138 (+)Ensembl
RefSeq Acc Id: ENST00000462584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,167,923 - 137,168,755 (+)Ensembl
RefSeq Acc Id: ENST00000471122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,139,410 - 137,165,422 (+)Ensembl
RefSeq Acc Id: ENST00000473811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,165,117 - 137,167,534 (+)Ensembl
RefSeq Acc Id: ENST00000485413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,156,976 - 137,158,717 (+)Ensembl
RefSeq Acc Id: ENST00000675064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,145,773 - 137,150,280 (+)Ensembl
RefSeq Acc Id: ENST00000675295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,149,009 - 137,165,296 (+)Ensembl
RefSeq Acc Id: ENST00000675885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,164,172 - 137,165,296 (+)Ensembl
RefSeq Acc Id: ENST00000676396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,154,488 - 137,159,639 (+)Ensembl
RefSeq Acc Id: NM_000832   ⟹   NP_000823
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,154 - 137,168,756 (+)NCBI
GRCh379140,033,609 - 140,063,214 (+)ENTREZGENE
Build 369139,153,430 - 139,183,029 (+)NCBI Archive
HuRef9109,493,914 - 109,523,231 (+)ENTREZGENE
CHM1_19140,182,355 - 140,211,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001185090   ⟹   NP_001172019
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,154 - 137,168,756 (+)NCBI
GRCh379140,033,609 - 140,063,214 (+)NCBI
HuRef9109,493,914 - 109,523,231 (+)ENTREZGENE
CHM1_19140,182,355 - 140,211,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001185091   ⟹   NP_001172020
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,154 - 137,168,756 (+)NCBI
GRCh379140,033,609 - 140,063,214 (+)NCBI
HuRef9109,493,914 - 109,523,231 (+)ENTREZGENE
CHM1_19140,182,355 - 140,211,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007327   ⟹   NP_015566
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,154 - 137,168,756 (+)NCBI
GRCh379140,033,609 - 140,063,214 (+)ENTREZGENE
GRCh379140,033,609 - 140,063,214 (+)NCBI
Build 369139,153,430 - 139,183,029 (+)NCBI Archive
HuRef9109,493,914 - 109,523,231 (+)ENTREZGENE
CHM1_19140,182,355 - 140,211,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021569   ⟹   NP_067544
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,154 - 137,168,756 (+)NCBI
GRCh379140,033,609 - 140,063,214 (+)ENTREZGENE
Build 369139,153,430 - 139,183,029 (+)NCBI Archive
HuRef9109,493,914 - 109,523,231 (+)ENTREZGENE
CHM1_19140,182,355 - 140,211,903 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266071   ⟹   XP_005266128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,487 - 137,168,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266072   ⟹   XP_005266129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,153 - 137,168,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266073   ⟹   XP_005266130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,092 - 137,168,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518583   ⟹   XP_011516885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,139,153 - 137,165,171 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000823 (Get FASTA)   NCBI Sequence Viewer  
  NP_001172019 (Get FASTA)   NCBI Sequence Viewer  
  NP_001172020 (Get FASTA)   NCBI Sequence Viewer  
  NP_015566 (Get FASTA)   NCBI Sequence Viewer  
  NP_067544 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266128 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266129 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266130 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516885 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA21180 (Get FASTA)   NCBI Sequence Viewer  
  AAA36198 (Get FASTA)   NCBI Sequence Viewer  
  AAA62111 (Get FASTA)   NCBI Sequence Viewer  
  AAA62112 (Get FASTA)   NCBI Sequence Viewer  
  AAB25917 (Get FASTA)   NCBI Sequence Viewer  
  AAB59360 (Get FASTA)   NCBI Sequence Viewer  
  AAB59361 (Get FASTA)   NCBI Sequence Viewer  
  AAB67723 (Get FASTA)   NCBI Sequence Viewer  
  AAB67724 (Get FASTA)   NCBI Sequence Viewer  
  BAA02732 (Get FASTA)   NCBI Sequence Viewer  
  BAD92155 (Get FASTA)   NCBI Sequence Viewer  
  BAD92236 (Get FASTA)   NCBI Sequence Viewer  
  EAW88350 (Get FASTA)   NCBI Sequence Viewer  
  EAW88351 (Get FASTA)   NCBI Sequence Viewer  
  EAW88352 (Get FASTA)   NCBI Sequence Viewer  
  EAW88353 (Get FASTA)   NCBI Sequence Viewer  
  EAW88354 (Get FASTA)   NCBI Sequence Viewer  
  EAW88355 (Get FASTA)   NCBI Sequence Viewer  
  EAW88356 (Get FASTA)   NCBI Sequence Viewer  
  EAW88357 (Get FASTA)   NCBI Sequence Viewer  
  EAW88358 (Get FASTA)   NCBI Sequence Viewer  
  EAW88359 (Get FASTA)   NCBI Sequence Viewer  
  EAW88360 (Get FASTA)   NCBI Sequence Viewer  
  Q05586 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001172019   ⟸   NM_001185090
- Peptide Label: isoform GluN1-3b precursor
- UniProtKB: Q05586 (UniProtKB/Swiss-Prot),   Q59GW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001172020   ⟸   NM_001185091
- Peptide Label: isoform GluN1-5b precursor
- UniProtKB: Q05586 (UniProtKB/Swiss-Prot),   Q59GW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_015566   ⟸   NM_007327
- Peptide Label: isoform GluN1-1a precursor
- UniProtKB: Q05586 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_067544   ⟸   NM_021569
- Peptide Label: isoform GluN1-2a precursor
- UniProtKB: Q05586 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000823   ⟸   NM_000832
- Peptide Label: isoform GluN1-4a precursor
- UniProtKB: Q05586 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266130   ⟸   XM_005266073
- Peptide Label: isoform X1
- UniProtKB: Q05586 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266129   ⟸   XM_005266072
- Peptide Label: isoform X3
- UniProtKB: Q5VSF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266128   ⟸   XM_005266071
- Peptide Label: isoform X2
- UniProtKB: Q05586 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516885   ⟸   XM_011518583
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000360601   ⟸   ENST00000371546
RefSeq Acc Id: ENSP00000360605   ⟸   ENST00000371550
RefSeq Acc Id: ENSP00000360608   ⟸   ENST00000371553
RefSeq Acc Id: ENSP00000360610   ⟸   ENST00000371555
RefSeq Acc Id: ENSP00000360614   ⟸   ENST00000371559
RefSeq Acc Id: ENSP00000360615   ⟸   ENST00000371560
RefSeq Acc Id: ENSP00000360616   ⟸   ENST00000371561
RefSeq Acc Id: ENSP00000316915   ⟸   ENST00000350902
Protein Domains
ANF_receptor   Lig_chan-Glu_bd   PBPe

Promoters
RGD ID:7216773
Promoter ID:EPDNEW_H14133
Type:initiation region
Name:GRIN1_1
Description:glutamate ionotropic receptor NMDA type subunit 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
GRCh389137,139,221 - 137,139,281EPDNEW
RGD ID:6807755
Promoter ID:HG_KWN:65710
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000055268
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,171,006 - 139,171,506 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007327.4(GRIN1):c.2298C>T (p.Ser766=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000530526] Chr9:137163295 [GRCh38]
Chr9:140057747 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.467G>A (p.Arg156His) single nucleotide variant History of neurodevelopmental disorder [RCV000719541]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000550660] Chr9:137145799 [GRCh38]
Chr9:140040251 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1910C>T (p.Ala637Val) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001196588]|not provided [RCV000522670] Chr9:137162636 [GRCh38]
Chr9:140057088 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.1984G>A (p.Glu662Lys) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000022577] Chr9:137162710 [GRCh38]
Chr9:140057162 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1679_1681dup (p.Ser560dup) duplication Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000022578] Chr9:137162216..137162217 [GRCh38]
Chr9:140056668..140056669 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1765T>C (p.Phe589Leu) single nucleotide variant not provided [RCV000727630] Chr9:137162417 [GRCh38]
Chr9:140056869 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000576875] Chr9:137162510 [GRCh38]
Chr9:140056962 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_007327.4(GRIN1):c.2449T>C (p.Phe817Leu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000576887] Chr9:137163764 [GRCh38]
Chr9:140058216 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1930G>A (p.Val644Met) single nucleotide variant not provided [RCV000519384] Chr9:137162656 [GRCh38]
Chr9:140057108 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 copy number loss See cases [RCV000052937] Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1 copy number loss See cases [RCV000052887] Chr9:137092629..137375788 [GRCh38]
Chr9:139987081..140270240 [GRCh37]
Chr9:139106902..139390061 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 copy number loss See cases [RCV000052940] Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NM_007327.3(GRIN1):c.2080C>T (p.Arg694Trp) single nucleotide variant Malignant melanoma [RCV000061911] Chr9:137162912 [GRCh38]
Chr9:140057364 [GRCh37]
Chr9:139177185 [NCBI36]
Chr9:9q34.3
not provided
NM_007327.4(GRIN1):c.1340C>T (p.Pro447Leu) single nucleotide variant not provided [RCV000117167] Chr9:137161289 [GRCh38]
Chr9:140055741 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.813C>T (p.Leu271=) single nucleotide variant not provided [RCV000084691] Chr9:137156882 [GRCh38]
Chr9:140051334 [GRCh37]
Chr9:9q34.3
not provided
NM_007327.4(GRIN1):c.1325C>T (p.Thr442Met) single nucleotide variant not provided [RCV000084692] Chr9:137161183 [GRCh38]
Chr9:140055635 [GRCh37]
Chr9:9q34.3
not provided
NM_007327.4(GRIN1):c.1866C>A (p.Gly622=) single nucleotide variant not provided [RCV000084693] Chr9:137162592 [GRCh38]
Chr9:140057044 [GRCh37]
Chr9:9q34.3
not provided
NM_007327.4(GRIN1):c.2064C>G (p.Ser688=) single nucleotide variant not provided [RCV000084694] Chr9:137162896 [GRCh38]
Chr9:140057348 [GRCh37]
Chr9:9q34.3
not provided
NM_007327.4(GRIN1):c.2214C>T (p.Phe738=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001087452]|not provided [RCV000084695] Chr9:137163211 [GRCh38]
Chr9:140057663 [GRCh37]
Chr9:9q34.3
likely benign|not provided
NM_007327.4(GRIN1):c.2445G>A (p.Gly815=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001088061]|not provided [RCV000084696] Chr9:137163760 [GRCh38]
Chr9:140058212 [GRCh37]
Chr9:9q34.3
likely benign|not provided
NM_007327.4(GRIN1):c.2563G>A (p.Val855Ile) single nucleotide variant not provided [RCV000084697] Chr9:137163878 [GRCh38]
Chr9:140058330 [GRCh37]
Chr9:9q34.3
not provided
NM_007327.4(GRIN1):c.2637A>G (p.Thr879=) single nucleotide variant not provided [RCV000084698] Chr9:137165233 [GRCh38]
Chr9:140059685 [GRCh37]
Chr9:9q34.3
not provided
NM_007327.4(GRIN1):c.1467+8G>A single nucleotide variant not provided [RCV000711868]|not specified [RCV000117168] Chr9:137161424 [GRCh38]
Chr9:140055876 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) single nucleotide variant History of neurodevelopmental disorder [RCV000716491]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000464613]|not specified [RCV000117169] Chr9:137163238 [GRCh38]
Chr9:140057690 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) single nucleotide variant History of neurodevelopmental disorder [RCV000716505]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000459405]|not specified [RCV000117170] Chr9:137163241 [GRCh38]
Chr9:140057693 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) single nucleotide variant History of neurodevelopmental disorder [RCV000715253]|not provided [RCV000711872]|not specified [RCV000117171] Chr9:137156786 [GRCh38]
Chr9:140051238 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_007327.4(GRIN1):c.855G>A (p.Val285=) single nucleotide variant History of neurodevelopmental disorder [RCV000715275]|not specified [RCV000117172] Chr9:137156924 [GRCh38]
Chr9:140051376 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_007327.4(GRIN1):c.505G>A (p.Asp169Asn) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001313303]|not provided [RCV000255971] Chr9:137145837 [GRCh38]
Chr9:140040289 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1331C>T (p.Pro444Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000720783]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001079792]|not provided [RCV000255622] Chr9:137161189 [GRCh38]
Chr9:140055641 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007327.4(GRIN1):c.1114-5C>T single nucleotide variant not specified [RCV000603124] Chr9:137158616 [GRCh38]
Chr9:140053068 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2188A>C (p.Ile730Leu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001303478] Chr9:137163185 [GRCh38]
Chr9:140057637 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg) single nucleotide variant Inborn genetic diseases [RCV000190763] Chr9:137163668 [GRCh38]
Chr9:140058120 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.350C>T (p.Pro117Leu) single nucleotide variant Malignant tumor of prostate [RCV000149093] Chr9:137142104 [GRCh38]
Chr9:140036556 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_007327.4(GRIN1):c.1339+15C>T single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001332980] Chr9:137161212 [GRCh38]
Chr9:140055664 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 copy number loss See cases [RCV000142978] Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3 copy number gain See cases [RCV000142744] Chr9:137092629..137270028 [GRCh38]
Chr9:139987081..140164480 [GRCh37]
Chr9:139106902..139284301 [NCBI36]
Chr9:9q34.3
benign
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3
likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) single nucleotide variant History of neurodevelopmental disorder [RCV000720698]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001089362]|not provided [RCV000540707]|not specified [RCV000192317] Chr9:137158415 [GRCh38]
Chr9:140052867 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007327.4(GRIN1):c.357G>A (p.Leu119=) single nucleotide variant not provided [RCV000840921]|not specified [RCV000193451] Chr9:137142111 [GRCh38]
Chr9:140036563 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) single nucleotide variant History of neurodevelopmental disorder [RCV000720182]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001079498]|not provided [RCV000458354]|not specified [RCV000194689] Chr9:137156765 [GRCh38]
Chr9:140051217 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007327.4(GRIN1):c.2499C>T (p.Ile833=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649668]|not specified [RCV000194742] Chr9:137163814 [GRCh38]
Chr9:140058266 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) single nucleotide variant Inborn genetic diseases [RCV000622498]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000191091]|not provided [RCV000479068] Chr9:137162510 [GRCh38]
Chr9:140056962 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007327.4(GRIN1):c.255C>T (p.Ser85=) single nucleotide variant not specified [RCV000192623] Chr9:137139741 [GRCh38]
Chr9:140034193 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1437G>A (p.Val479=) single nucleotide variant not specified [RCV000193519] Chr9:137161386 [GRCh38]
Chr9:140055838 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.237C>T (p.Cys79=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000543147]|not specified [RCV000605384] Chr9:137139723 [GRCh38]
Chr9:140034175 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_007327.4(GRIN1):c.2488C>T (p.Leu830=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000544512] Chr9:137163803 [GRCh38]
Chr9:140058255 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.679G>C (p.Asp227His) single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE [RCV000576889]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000210389]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000760222] Chr9:137156676 [GRCh38]
Chr9:140051128 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_007327.4(GRIN1):c.1670C>G (p.Pro557Arg) single nucleotide variant Intellectual disability [RCV000224047] Chr9:137162209 [GRCh38]
Chr9:140056661 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.525G>A (p.Ala175=) single nucleotide variant History of neurodevelopmental disorder [RCV000717045]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000232465]|not specified [RCV000616760] Chr9:137145857 [GRCh38]
Chr9:140040309 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_007327.4(GRIN1):c.2333+9C>A single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000234646]|not specified [RCV000431873] Chr9:137163339 [GRCh38]
Chr9:140057791 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_007327.4(GRIN1):c.246C>T (p.Leu82=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000228541] Chr9:137139732 [GRCh38]
Chr9:140034184 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_007327.4(GRIN1):c.570+16G>A single nucleotide variant not specified [RCV000600918] Chr9:137145918 [GRCh38]
Chr9:140040370 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) single nucleotide variant Inborn genetic diseases [RCV000622458] Chr9:137162182 [GRCh38]
Chr9:140056634 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.297C>T (p.Asn99=) single nucleotide variant not specified [RCV000603512] Chr9:137142051 [GRCh38]
Chr9:140036503 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.759G>A (p.Glu253=) single nucleotide variant not provided [RCV000487625] Chr9:137156756 [GRCh38]
Chr9:140051208 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.947A>G (p.Lys316Arg) single nucleotide variant not provided [RCV000521029] Chr9:137157016 [GRCh38]
Chr9:140051468 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1114-8A>G single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000553061] Chr9:137158613 [GRCh38]
Chr9:140053065 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1853G>T (p.Gly618Val) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001268942] Chr9:137162505 [GRCh38]
Chr9:140056957 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1975C>T (p.Arg659Trp) single nucleotide variant not provided [RCV000488193] Chr9:137162701 [GRCh38]
Chr9:140057153 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NM_007327.4(GRIN1):c.705C>T (p.Ala235=) single nucleotide variant History of neurodevelopmental disorder [RCV000719305]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001081647]|not provided [RCV000488242] Chr9:137156702 [GRCh38]
Chr9:140051154 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007327.4(GRIN1):c.1198-2del deletion Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000529179] Chr9:137161054 [GRCh38]
Chr9:140055506 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.387G>A (p.Ser129=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001050499]|not specified [RCV000605049] Chr9:137142141 [GRCh38]
Chr9:140036593 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000625828] Chr9:137163642 [GRCh38]
Chr9:140058094 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.63G>A (p.Ala21=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649664]|not specified [RCV000606276] Chr9:137139549 [GRCh38]
Chr9:140034001 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2420C>T (p.Thr807Ile) single nucleotide variant Inborn genetic diseases [RCV000622627] Chr9:137163645 [GRCh38]
Chr9:140058097 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.-16C>T single nucleotide variant not specified [RCV000600931] Chr9:137139471 [GRCh38]
Chr9:140033923 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.957G>A (p.Pro319=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000767988] Chr9:137157026 [GRCh38]
Chr9:140051478 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg) single nucleotide variant Inborn genetic diseases [RCV000624738] Chr9:137162184 [GRCh38]
Chr9:140056636 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1656C>G (p.Asp552Glu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000576882] Chr9:137162195 [GRCh38]
Chr9:140056647 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.649C>T (p.Arg217Trp) single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE [RCV000576876] Chr9:137149087 [GRCh38]
Chr9:140043539 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000576881]|not provided [RCV001092464] Chr9:137163794 [GRCh38]
Chr9:140058246 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NM_007327.4(GRIN1):c.1656C>A (p.Asp552Glu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000576888] Chr9:137162195 [GRCh38]
Chr9:140056647 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.879_880insCTCGAT (p.Glu294_Leu295insLeuAsp) insertion not provided [RCV000598843] Chr9:137156948..137156949 [GRCh38]
Chr9:140051400..140051401 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) single nucleotide variant Inborn genetic diseases [RCV000623606]|Intellectual disability [RCV001260636]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000763192]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001043920]|not provided [RCV000730546] Chr9:137163845 [GRCh38]
Chr9:140058297 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu) single nucleotide variant Global developmental delay [RCV000735322]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001239704] Chr9:137163846 [GRCh38]
Chr9:140058298 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
NM_007327.4(GRIN1):c.734A>T (p.Tyr245Phe) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000767986] Chr9:137156731 [GRCh38]
Chr9:140051183 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.780C>T (p.Arg260=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001081754]|not provided [RCV000416174] Chr9:137156777 [GRCh38]
Chr9:140051229 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007327.4(GRIN1):c.351C>G (p.Pro117=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000538028] Chr9:137142105 [GRCh38]
Chr9:140036557 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1670C>T (p.Pro557Leu) single nucleotide variant not provided [RCV000412873] Chr9:137162209 [GRCh38]
Chr9:140056661 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_007327.4(GRIN1):c.1854_1859dup (p.Ile619_Gly620dup) duplication Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000449545] Chr9:137162502..137162503 [GRCh38]
Chr9:140056954..140056955 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 copy number loss See cases [RCV000446191] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1198-7C>T single nucleotide variant not specified [RCV000427214] Chr9:137161049 [GRCh38]
Chr9:140055501 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1864+17C>T single nucleotide variant not specified [RCV000430908] Chr9:137162533 [GRCh38]
Chr9:140056985 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.394-19G>A single nucleotide variant not specified [RCV000430913] Chr9:137145707 [GRCh38]
Chr9:140040159 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2008C>A (p.Pro670Thr) single nucleotide variant not provided [RCV000442420] Chr9:137162734 [GRCh38]
Chr9:140057186 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.630G>A (p.Glu210=) single nucleotide variant not provided [RCV000866335]|not specified [RCV000423939] Chr9:137149068 [GRCh38]
Chr9:140043520 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2444-14G>A single nucleotide variant not specified [RCV000427368] Chr9:137163745 [GRCh38]
Chr9:140058197 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2022C>T (p.Asn674=) single nucleotide variant not specified [RCV000431266] Chr9:137162854 [GRCh38]
Chr9:140057306 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2334-18A>T single nucleotide variant not specified [RCV000434551] Chr9:137163541 [GRCh38]
Chr9:140057993 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.394-13C>T single nucleotide variant not specified [RCV000417934] Chr9:137145713 [GRCh38]
Chr9:140040165 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.696C>T (p.Tyr232=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649662]|not specified [RCV000418022] Chr9:137156693 [GRCh38]
Chr9:140051145 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1497T>C (p.Asn499=) single nucleotide variant not specified [RCV000420935] Chr9:137161953 [GRCh38]
Chr9:140056405 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2412C>G (p.Ala804=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000560531]|not specified [RCV000424223] Chr9:137163637 [GRCh38]
Chr9:140058089 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1179G>A (p.Gln393=) single nucleotide variant not specified [RCV000431463] Chr9:137158686 [GRCh38]
Chr9:140053138 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1865-13C>T single nucleotide variant not specified [RCV000434705] Chr9:137162578 [GRCh38]
Chr9:140057030 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2589+6G>T single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001046024]|not specified [RCV000438478] Chr9:137163910 [GRCh38]
Chr9:140058362 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.-35C>A single nucleotide variant not specified [RCV000442173] Chr9:137139452 [GRCh38]
Chr9:140033904 [GRCh37]
Chr9:9q34.3
benign
NM_007327.4(GRIN1):c.*9G>A single nucleotide variant not specified [RCV000431850] Chr9:137167536 [GRCh38]
Chr9:140061988 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.693A>C (p.Val231=) single nucleotide variant History of neurodevelopmental disorder [RCV000720123]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649669]|not specified [RCV000418527] Chr9:137156690 [GRCh38]
Chr9:140051142 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_007327.4(GRIN1):c.2133C>T (p.Tyr711=) single nucleotide variant not specified [RCV000418617] Chr9:137162965 [GRCh38]
Chr9:140057417 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.394-11G>A single nucleotide variant not specified [RCV000418621] Chr9:137145715 [GRCh38]
Chr9:140040167 [GRCh37]
Chr9:9q34.3
benign
NM_007327.4(GRIN1):c.333C>T (p.Ala111=) single nucleotide variant not specified [RCV000428296] Chr9:137142087 [GRCh38]
Chr9:140036539 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.864G>A (p.Val288=) single nucleotide variant not specified [RCV000438789] Chr9:137156933 [GRCh38]
Chr9:140051385 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.66C>T (p.Cys22=) single nucleotide variant not specified [RCV000442537] Chr9:137139552 [GRCh38]
Chr9:140034004 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) single nucleotide variant History of neurodevelopmental disorder [RCV000716186]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001086166]|not provided [RCV000711869]|not specified [RCV000425016] Chr9:137162040 [GRCh38]
Chr9:140056492 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_007327.4(GRIN1):c.351C>A (p.Pro117=) single nucleotide variant not specified [RCV000428515] Chr9:137142105 [GRCh38]
Chr9:140036557 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2799C>T (p.Ser933=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000474024]|not provided [RCV001092465]|not specified [RCV000435573] Chr9:137167509 [GRCh38]
Chr9:140061961 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) single nucleotide variant History of neurodevelopmental disorder [RCV000718440]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000460308]|not provided [RCV001311044]|not specified [RCV000428723] Chr9:137161969 [GRCh38]
Chr9:140056421 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_007327.4(GRIN1):c.570+10G>A single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000558371]|not specified [RCV000428919] Chr9:137145912 [GRCh38]
Chr9:140040364 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_007327.4(GRIN1):c.2443+14C>T single nucleotide variant not specified [RCV000435728] Chr9:137163682 [GRCh38]
Chr9:140058134 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2121G>A (p.Glu707=) single nucleotide variant not specified [RCV000439364] Chr9:137162953 [GRCh38]
Chr9:140057405 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.258+18C>T single nucleotide variant not provided [RCV000514011]|not specified [RCV000419396] Chr9:137139762 [GRCh38]
Chr9:140034214 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.570+20G>A single nucleotide variant not specified [RCV000439477] Chr9:137145922 [GRCh38]
Chr9:140040374 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.394-4G>A single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000863280]|not specified [RCV000419493] Chr9:137145722 [GRCh38]
Chr9:140040174 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2013+19G>A single nucleotide variant not specified [RCV000425699] Chr9:137162758 [GRCh38]
Chr9:140057210 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.-24G>A single nucleotide variant not specified [RCV000429296] Chr9:137139463 [GRCh38]
Chr9:140033915 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1548G>A (p.Pro516=) single nucleotide variant History of neurodevelopmental disorder [RCV000716013]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000467124]|not provided [RCV000992111]|not specified [RCV000432597] Chr9:137162004 [GRCh38]
Chr9:140056456 [GRCh37]
Chr9:9q34.3
benign
NM_007327.4(GRIN1):c.2097G>C (p.Leu699=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001085476]|not provided [RCV000711870]|not specified [RCV000422324] Chr9:137162929 [GRCh38]
Chr9:140057381 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.930C>T (p.Gly310=) single nucleotide variant not specified [RCV000425812] Chr9:137156999 [GRCh38]
Chr9:140051451 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.-29G>A single nucleotide variant not specified [RCV000432787] Chr9:137139458 [GRCh38]
Chr9:140033910 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.105G>A (p.Thr35=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000897597]|not specified [RCV000432997] Chr9:137139591 [GRCh38]
Chr9:140034043 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1632+14G>A single nucleotide variant not specified [RCV000443783] Chr9:137162102 [GRCh38]
Chr9:140056554 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.747C>T (p.Val249=) single nucleotide variant not specified [RCV000429974] Chr9:137156744 [GRCh38]
Chr9:140051196 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1044C>T (p.Phe348=) single nucleotide variant History of neurodevelopmental disorder [RCV000715605]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649666]|not specified [RCV000433279] Chr9:137158454 [GRCh38]
Chr9:140052906 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_007327.4(GRIN1):c.793+15T>C single nucleotide variant not specified [RCV000433532] Chr9:137156805 [GRCh38]
Chr9:140051257 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1431C>T (p.His477=) single nucleotide variant not provided [RCV000930229]|not specified [RCV000426859] Chr9:137161380 [GRCh38]
Chr9:140055832 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1989C>T (p.Arg663=) single nucleotide variant not specified [RCV000440952] Chr9:137162715 [GRCh38]
Chr9:140057167 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.387G>C (p.Ser129=) single nucleotide variant not specified [RCV000444471] Chr9:137142141 [GRCh38]
Chr9:140036593 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1198-6C>T single nucleotide variant not specified [RCV000444503] Chr9:137161050 [GRCh38]
Chr9:140055502 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.426G>A (p.Pro142=) single nucleotide variant not specified [RCV000437536] Chr9:137145758 [GRCh38]
Chr9:140040210 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.570+12C>T single nucleotide variant not specified [RCV000444679] Chr9:137145914 [GRCh38]
Chr9:140040366 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu) single nucleotide variant GRIN1-Related Disorder [RCV000509282]|not provided [RCV000483066] Chr9:137162700 [GRCh38]
Chr9:140057152 [GRCh37]
Chr9:9q34.3
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_007327.4(GRIN1):c.2700+8G>T single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000456593] Chr9:137165304 [GRCh38]
Chr9:140059756 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2442C>T (p.Ala814=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000456851]|not provided [RCV000711871] Chr9:137163667 [GRCh38]
Chr9:140058119 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1607A>G (p.Gln536Arg) single nucleotide variant not provided [RCV000484871] Chr9:137162063 [GRCh38]
Chr9:140056515 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.329C>T (p.Thr110Ile) single nucleotide variant not provided [RCV000484875] Chr9:137142083 [GRCh38]
Chr9:140036535 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.1595C>A (p.Pro532His) single nucleotide variant not provided [RCV000484949] Chr9:137162051 [GRCh38]
Chr9:140056503 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.968+10dup duplication not provided [RCV000866111]|not specified [RCV000481803] Chr9:137157043..137157044 [GRCh38]
Chr9:140051495..140051496 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2314G>C (p.Val772Leu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000465077] Chr9:137163311 [GRCh38]
Chr9:140057763 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2595A>G (p.Arg865=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000468893] Chr9:137165191 [GRCh38]
Chr9:140059643 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.614C>T (p.Thr205Met) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000472824]|not specified [RCV000612538] Chr9:137149052 [GRCh38]
Chr9:140043504 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_007327.4(GRIN1):c.1955C>T (p.Ala652Val) single nucleotide variant not provided [RCV000486169] Chr9:137162681 [GRCh38]
Chr9:140057133 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1924A>C (p.Ile642Leu) single nucleotide variant not provided [RCV000486798] Chr9:137162650 [GRCh38]
Chr9:140057102 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) single nucleotide variant GRIN1-Related Disorder [RCV000844969]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000473483] Chr9:137162649 [GRCh38]
Chr9:140057101 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_007327.4(GRIN1):c.1340C>A (p.Pro447His) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000466369] Chr9:137161289 [GRCh38]
Chr9:140055741 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_007327.4(GRIN1):c.1339+7GCGCGGGGCAGGGCGCGGG[3] microsatellite not specified [RCV000503597] Chr9:137161203..137161204 [GRCh38]
Chr9:140055655..140055656 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1701G>A (p.Gly567=) single nucleotide variant not specified [RCV000501929] Chr9:137162240 [GRCh38]
Chr9:140056692 [GRCh37]
Chr9:9q34.3
likely pathogenic|likely benign
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000500334] Chr9:137163606 [GRCh38]
Chr9:140058058 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1950C>G (p.Asn650Lys) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000576877] Chr9:137162676 [GRCh38]
Chr9:140057128 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.2441C>A (p.Ala814Asp) single nucleotide variant not provided [RCV000494042] Chr9:137163666 [GRCh38]
Chr9:140058118 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.2062T>C (p.Ser688Pro) single nucleotide variant not provided [RCV000494405] Chr9:137162894 [GRCh38]
Chr9:140057346 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.1949A>T (p.Asn650Ile) single nucleotide variant not provided [RCV000493190] Chr9:137162675 [GRCh38]
Chr9:140057127 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000532186] Chr9:137163767 [GRCh38]
Chr9:140058219 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.152A>G (p.Lys51Arg) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001089367]|not provided [RCV000840242] Chr9:137139638 [GRCh38]
Chr9:140034090 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.259-10G>A single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000557037] Chr9:137142003 [GRCh38]
Chr9:140036455 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1666C>T (p.Gln556Ter) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV000576885] Chr9:137162205 [GRCh38]
Chr9:140056657 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.237C>A (p.Cys79Ter) single nucleotide variant not provided [RCV000578586] Chr9:137139723 [GRCh38]
Chr9:140034175 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2232C>T (p.Cys744=) single nucleotide variant not specified [RCV000601294] Chr9:137163229 [GRCh38]
Chr9:140057681 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1382A>G (p.Asp461Gly) single nucleotide variant Inborn genetic diseases [RCV000624711]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649660] Chr9:137161331 [GRCh38]
Chr9:140055783 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) single nucleotide variant Rolandic epilepsy [RCV000656029] Chr9:137163819 [GRCh38]
Chr9:140058271 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.571-19A>C single nucleotide variant not specified [RCV000607792] Chr9:137148990 [GRCh38]
Chr9:140043442 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1198-19G>C single nucleotide variant Hemimegalencephaly [RCV000626906] Chr9:137161037 [GRCh38]
Chr9:140055489 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1467+19del deletion not specified [RCV000609563] Chr9:137161431 [GRCh38]
Chr9:140055883 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1751+13C>T single nucleotide variant not specified [RCV000612142] Chr9:137162303 [GRCh38]
Chr9:140056755 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1461G>A (p.Gln487=) single nucleotide variant not specified [RCV000612261] Chr9:137161410 [GRCh38]
Chr9:140055862 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1958C>G (p.Ala653Gly) single nucleotide variant Inborn genetic diseases [RCV000624415] Chr9:137162684 [GRCh38]
Chr9:140057136 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.571-4G>A single nucleotide variant not specified [RCV000615511] Chr9:137149005 [GRCh38]
Chr9:140043457 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2700+8G>A single nucleotide variant not specified [RCV000613008] Chr9:137165304 [GRCh38]
Chr9:140059756 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1809G>C (p.Leu603=) single nucleotide variant History of neurodevelopmental disorder [RCV000717053]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000554649]|not specified [RCV000602220] Chr9:137162461 [GRCh38]
Chr9:140056913 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649654] Chr9:137162653 [GRCh38]
Chr9:140057105 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.154C>G (p.Arg52Gly) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649655] Chr9:137139640 [GRCh38]
Chr9:140034092 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_007327.4(GRIN1):c.1A>T (p.Met1Leu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649656] Chr9:137139487 [GRCh38]
Chr9:140033939 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649657] Chr9:137163228 [GRCh38]
Chr9:140057680 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
NM_007327.4(GRIN1):c.631G>A (p.Ala211Thr) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649658] Chr9:137149069 [GRCh38]
Chr9:140043521 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1647C>T (p.Ser549=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649659] Chr9:137162186 [GRCh38]
Chr9:140056638 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649661]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001332979]|not provided [RCV000999295] Chr9:137158455 [GRCh38]
Chr9:140052907 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.259-9T>C single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649663] Chr9:137142004 [GRCh38]
Chr9:140036456 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2313C>T (p.Asn771=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649667] Chr9:137163310 [GRCh38]
Chr9:140057762 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2235C>T (p.Asp745=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000649670] Chr9:137163232 [GRCh38]
Chr9:140057684 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2013+20G>T single nucleotide variant not specified [RCV000602055] Chr9:137162759 [GRCh38]
Chr9:140057211 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.793+12G>A single nucleotide variant not specified [RCV000613092] Chr9:137156802 [GRCh38]
Chr9:140051254 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2172-12C>T single nucleotide variant not specified [RCV000607747] Chr9:137163157 [GRCh38]
Chr9:140057609 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1076G>A (p.Arg359His) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001316189]|not specified [RCV000610442] Chr9:137158486 [GRCh38]
Chr9:140052938 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.2443+15A>G single nucleotide variant not specified [RCV000616404] Chr9:137163683 [GRCh38]
Chr9:140058135 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1108A>G (p.Thr370Ala) single nucleotide variant not provided [RCV000584903] Chr9:137158518 [GRCh38]
Chr9:140052970 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1468-17G>C single nucleotide variant not specified [RCV000607886] Chr9:137161907 [GRCh38]
Chr9:140056359 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2700+11G>C single nucleotide variant not specified [RCV000607914] Chr9:137165307 [GRCh38]
Chr9:140059759 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2014-20C>T single nucleotide variant not specified [RCV000616597] Chr9:137162826 [GRCh38]
Chr9:140057278 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.570+13G>A single nucleotide variant not specified [RCV000613625] Chr9:137145915 [GRCh38]
Chr9:140040367 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2171+14G>A single nucleotide variant not specified [RCV000614442] Chr9:137163017 [GRCh38]
Chr9:140057469 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_007327.4(GRIN1):c.1467+17G>A single nucleotide variant not specified [RCV000607475] Chr9:137161433 [GRCh38]
Chr9:140055885 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
NM_007327.4(GRIN1):c.2199G>A (p.Ser733=) single nucleotide variant not provided [RCV000513292] Chr9:137163196 [GRCh38]
Chr9:140057648 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_007327.4(GRIN1):c.2223G>C (p.Ser741=) single nucleotide variant History of neurodevelopmental disorder [RCV000720595]|not provided [RCV000513639] Chr9:137163220 [GRCh38]
Chr9:140057672 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.1961T>G (p.Phe654Cys) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000677415] Chr9:137162687 [GRCh38]
Chr9:140057139 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1964T>A (p.Leu655Gln) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000679997] Chr9:137162690 [GRCh38]
Chr9:140057142 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.368C>A (p.Thr123Asn) single nucleotide variant Intellectual disability [RCV000681489] Chr9:137142122 [GRCh38]
Chr9:140036574 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro) single nucleotide variant Intellectual disability [RCV000681504]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001060033] Chr9:137139508 [GRCh38]
Chr9:140033960 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
NM_007327.4(GRIN1):c.1012G>A (p.Val338Met) single nucleotide variant History of neurodevelopmental disorder [RCV000720532]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000688402] Chr9:137158422 [GRCh38]
Chr9:140052874 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.570+4A>T single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000685834] Chr9:137145906 [GRCh38]
Chr9:140040358 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_007327.4(GRIN1):c.1516C>T (p.Leu506Phe) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000686682] Chr9:137161972 [GRCh38]
Chr9:140056424 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000687064] Chr9:137162499 [GRCh38]
Chr9:140056951 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
NM_007327.4(GRIN1):c.474C>T (p.Tyr158=) single nucleotide variant History of neurodevelopmental disorder [RCV000717546] Chr9:137145806 [GRCh38]
Chr9:140040258 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.879C>T (p.His293=) single nucleotide variant History of neurodevelopmental disorder [RCV000717523] Chr9:137156948 [GRCh38]
Chr9:140051400 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1098C>G (p.Ile366Met) single nucleotide variant not provided [RCV000704529] Chr9:137158508 [GRCh38]
Chr9:140052960 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_007327.4(GRIN1):c.1971G>A (p.Leu657=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000695817] Chr9:137162697 [GRCh38]
Chr9:140057149 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2716C>A (p.Arg906Ser) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000705185] Chr9:137167426 [GRCh38]
Chr9:140061878 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.510C>A (p.Asp170Glu) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000691197] Chr9:137145842 [GRCh38]
Chr9:140040294 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1355C>T (p.Pro452Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000717763] Chr9:137161304 [GRCh38]
Chr9:140055756 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.1198-3del deletion History of neurodevelopmental disorder [RCV000719273] Chr9:137161047 [GRCh38]
Chr9:140055499 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1995G>C (p.Thr665=) single nucleotide variant History of neurodevelopmental disorder [RCV000717871] Chr9:137162721 [GRCh38]
Chr9:140057173 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:139754431-140088630)x3 copy number gain not provided [RCV000753227] Chr9:139754431..140088630 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140000619-140088630)x3 copy number gain not provided [RCV000753230] Chr9:140000619..140088630 [GRCh37]
Chr9:9q34.3
benign
NM_007327.4(GRIN1):c.669C>G (p.Ala223=) single nucleotide variant History of neurodevelopmental disorder [RCV000719440] Chr9:137149107 [GRCh38]
Chr9:140043559 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.888C>T (p.Leu296=) single nucleotide variant History of neurodevelopmental disorder [RCV000720368] Chr9:137156957 [GRCh38]
Chr9:140051409 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1198-3C>A single nucleotide variant History of neurodevelopmental disorder [RCV000720684] Chr9:137161053 [GRCh38]
Chr9:140055505 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2511C>T (p.Tyr837=) single nucleotide variant History of neurodevelopmental disorder [RCV000720459] Chr9:137163826 [GRCh38]
Chr9:140058278 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1829C>G (p.Ser610Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000720909] Chr9:137162481 [GRCh38]
Chr9:140056933 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139754427-140088630)x3 copy number gain not provided [RCV000753226] Chr9:139754427..140088630 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_007327.4(GRIN1):c.1257A>G (p.Thr419=) single nucleotide variant not provided [RCV000871260] Chr9:137161115 [GRCh38]
Chr9:140055567 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.2122A>C (p.Lys708Gln) single nucleotide variant not provided [RCV000762600] Chr9:137162954 [GRCh38]
Chr9:140057406 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.2265C>T (p.Arg755=) single nucleotide variant not provided [RCV000943115] Chr9:137163262 [GRCh38]
Chr9:140057714 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1206G>A (p.Thr402=) single nucleotide variant not provided [RCV000869932] Chr9:137161064 [GRCh38]
Chr9:140055516 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1440A>G (p.Ala480=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000865236] Chr9:137161389 [GRCh38]
Chr9:140055841 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.912G>A (p.Pro304=) single nucleotide variant not provided [RCV000867706] Chr9:137156981 [GRCh38]
Chr9:140051433 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1149C>T (p.Gly383=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000870589] Chr9:137158656 [GRCh38]
Chr9:140053108 [GRCh37]
Chr9:9q34.3
benign
NM_007327.4(GRIN1):c.420C>T (p.Thr140=) single nucleotide variant not provided [RCV000946251] Chr9:137145752 [GRCh38]
Chr9:140040204 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.378C>T (p.Ser126=) single nucleotide variant not provided [RCV000937423] Chr9:137142132 [GRCh38]
Chr9:140036584 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.819C>T (p.Asn273=) single nucleotide variant not provided [RCV000983165] Chr9:137156888 [GRCh38]
Chr9:140051340 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1339+9G>T single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000926335] Chr9:137161206 [GRCh38]
Chr9:140055658 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.36G>C (p.Leu12=) single nucleotide variant not provided [RCV000900200] Chr9:137139522 [GRCh38]
Chr9:140033974 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1650G>A (p.Thr550=) single nucleotide variant not provided [RCV000982301] Chr9:137162189 [GRCh38]
Chr9:140056641 [GRCh37]
Chr9:9q34.3
likely benign
NC_000009.12:g.(?_137139467)_(137139764_?)dup duplication Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001032916] Chr9:140033919..140034216 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_007327.4(GRIN1):c.352G>A (p.Val118Met) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000995776] Chr9:137142106 [GRCh38]
Chr9:140036558 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_007327.4(GRIN1):c.1342del (p.Arg448fs) deletion Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000995777] Chr9:137161196 [GRCh38]
Chr9:140055648 [GRCh37]
Chr9:9q34.3
pathogenic
NM_007327.4(GRIN1):c.1299G>C (p.Lys433Asn) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001034218] Chr9:137161157 [GRCh38]
Chr9:140055609 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1198-3C>T single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000804247] Chr9:137161053 [GRCh38]
Chr9:140055505 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_007327.4(GRIN1):c.672-267_672-229del deletion not provided [RCV000827877] Chr9:137156380..137156418 [GRCh38]
Chr9:140050832..140050870 [GRCh37]
Chr9:9q34.3
benign
NM_007327.4(GRIN1):c.1011C>A (p.Arg337=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000867644] Chr9:137158421 [GRCh38]
Chr9:140052873 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1197+7G>A single nucleotide variant not provided [RCV000982607] Chr9:137158711 [GRCh38]
Chr9:140053163 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1776C>T (p.Asn592=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001082483]|not provided [RCV000866346] Chr9:137162428 [GRCh38]
Chr9:140056880 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.546G>A (p.Thr182=) single nucleotide variant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV000868218] Chr9:137145878 [GRCh38]
Chr9:140040330 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1254G>A (p.Gly418=) single nucleotide variant not provided [RCV000945540] Chr9:137161112 [GRCh38]
Chr9:140055564 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.159C>T (p.His53=) single nucleotide variant not provided [RCV000863493] Chr9:137139645 [GRCh38]
Chr9:140034097 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1344C>T (p.Arg448=) single nucleotide variant not provided [RCV000867813] Chr9:137161293 [GRCh38]
Chr9:140055745 [GRCh37]
Chr9:9q34.3
likely benign
NM_007327.4(GRIN1):c.1671G>C (p.Pro557=) single nucleotide variant not provided [