STXBP1 (syntaxin binding protein 1) - Rat Genome Database
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Gene: STXBP1 (syntaxin binding protein 1) Homo sapiens
Analyze
Symbol: STXBP1
Name: syntaxin binding protein 1
RGD ID: 737322
HGNC Page HGNC
Description: Exhibits syntaxin-1 binding activity. Involved in several processes, including SNARE complex assembly; platelet aggregation; and regulation of acrosomal vesicle exocytosis. Localizes to several cellular components, including cytosol; nucleoplasm; and platelet alpha granule. Implicated in West syndrome and early infantile epileptic encephalopathy 4.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DEE4; EIEE4; FLJ37475; MUNC18-1; N-Sec1; neuronal SEC1; NSEC1; P67; protein unc-18 homolog 1; protein unc-18 homolog A; RBSEC1; syntaxin-binding protein 1; unc-18A; UNC18; unc18-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9127,579,370 - 127,696,027 (+)EnsemblGRCh38hg38GRCh38
GRCh389127,611,912 - 127,696,029 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379130,374,191 - 130,458,308 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh379130,374,486 - 130,454,995 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,414,390 - 129,494,816 (+)NCBINCBI36hg18NCBI36
Build 349127,454,121 - 127,534,549NCBI
Celera9101,025,378 - 101,105,881 (+)NCBI
Cytogenetic Map9q34.11NCBI
HuRef999,990,647 - 100,071,101 (+)NCBIHuRef
CHM1_19130,525,679 - 130,606,190 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
axon target recognition  (ISO,ISS)
cellular response to interferon-gamma  (IEA,ISO)
developmental process involved in reproduction  (IEA,ISO)
exocytosis  (ISO)
intracellular protein transport  (IBA)
long-term synaptic depression  (IEA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of protein-containing complex assembly  (IEA,ISO)
negative regulation of synaptic transmission, GABAergic  (ISO,ISS)
neuromuscular synaptic transmission  (IEA,ISO)
neurotransmitter secretion  (IBA,ISO,TAS)
neurotransmitter transport  (TAS)
platelet aggregation  (IMP)
platelet degranulation  (IMP)
positive regulation of calcium ion-dependent exocytosis  (IEA,ISO)
positive regulation of exocytosis  (ISO)
positive regulation of glutamate secretion, neurotransmission  (IEA,ISO)
positive regulation of mast cell degranulation  (IEA,ISO)
positive regulation of vesicle docking  (IEA,ISO)
presynaptic dense core vesicle exocytosis  (IEA,ISO)
protein localization to plasma membrane  (IDA)
protein stabilization  (IEA,ISO)
protein transport  (IEA)
regulation of acrosomal vesicle exocytosis  (IMP)
regulation of SNARE complex assembly  (TAS)
regulation of synaptic vesicle fusion to presynaptic active zone membrane  (TAS)
regulation of synaptic vesicle priming  (ISO,ISS)
regulation of vesicle fusion  (ISO)
response to estradiol  (IEA,ISO)
SNARE complex assembly  (IMP)
synaptic vesicle maturation  (ISO,ISS)
synaptic vesicle priming  (IEA,ISO)
vesicle docking involved in exocytosis  (IBA,ISO,ISS)
vesicle-mediated transport  (IBA,IEA)

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal hair pattern  (IAGP)
Abnormal morphology of the hippocampus  (IAGP)
Abnormal myelination  (IAGP)
Abnormal shape of the palpebral fissure  (IAGP)
Abnormality of skin morphology  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the periventricular white matter  (IAGP)
Abnormality of the pinna  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Absent thumbnail  (IAGP)
Action tremor  (IAGP)
Agitation  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Asthma  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence seizure  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Behavioral abnormality  (IAGP)
Bilateral coxa valga  (IAGP)
Bilateral generalized polymicrogyria  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Bradykinesia  (IAGP)
Broad chin  (IAGP)
Broad finger  (IAGP)
Broad phalanx of the toes  (IAGP)
Bulbous nose  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral hypomyelination  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Cognitive impairment  (IAGP)
Cogwheel rigidity  (IAGP)
Complex febrile seizure  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cyanotic episode  (IAGP)
Decreased fetal movement  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed gross motor development  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Developmental stagnation  (IAGP)
Difficulty walking  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilation of lateral ventricles  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Dysgenesis of the hippocampus  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with burst suppression  (IAGP)
EEG with generalized epileptiform discharges  (IAGP)
EEG with multifocal slow activity  (IAGP)
EEG with spike-wave complexes  (IAGP)
Encephalopathy  (IAGP)
Epilepsia partialis continua  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Episodic ataxia  (IAGP)
Episodic tachypnea  (IAGP)
Epistaxis  (IAGP)
Esophagitis  (IAGP)
Eyelid myoclonus  (IAGP)
Facial tics  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Fixed elbow flexion  (IAGP)
Focal aware seizure  (IAGP)
Focal emotional seizure with laughing  (IAGP)
Focal hemiclonic seizure  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal motor seizure  (IAGP)
Focal-onset seizure  (IAGP)
Full cheeks  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Functional motor deficit  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand apraxia  (IAGP)
High forehead  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperactivity  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypsarrhythmia  (IAGP)
Impaired horizontal smooth pursuit  (IAGP)
Impaired pain sensation  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Inappropriate crying  (IAGP)
Inappropriate laughter  (IAGP)
Incoordination  (IAGP)
Infantile encephalopathy  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Kyphosis  (IAGP)
Large forehead  (IAGP)
Leukoencephalopathy  (IAGP)
Limb hypertonia  (IAGP)
Limb myoclonus  (IAGP)
Limited knee extension  (IAGP)
Limited neck range of motion  (IAGP)
Loss of ability to walk  (IAGP)
Loss of speech  (IAGP)
Low-set ears  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Mutism  (IAGP)
Myoclonus  (IAGP)
Nail dysplasia  (IAGP)
Narrow mouth  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive trait  (IAGP)
Oculogyric crisis  (IAGP)
Optic atrophy  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Pachygyria  (IAGP)
Pallor  (IAGP)
Panic attack  (IAGP)
Parkinsonism  (IAGP)
Patellar aplasia  (IAGP)
Patellar dislocation  (IAGP)
Patellar hypoplasia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Pes valgus  (IAGP)
Photosensitive myoclonic seizure  (IAGP)
Photosensitive tonic-clonic seizure  (IAGP)
Pill-rolling tremor  (IAGP)
Plagiocephaly  (IAGP)
Poor eye contact  (IAGP)
Poor fine motor coordination  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Postnatal microcephaly  (IAGP)
Precocious puberty  (IAGP)
Progressive gait ataxia  (IAGP)
Prominent metopic ridge  (IAGP)
Ptosis  (IAGP)
Renal dysplasia  (IAGP)
Restrictive behavior  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Round face  (IAGP)
Scoliosis  (IAGP)
Scrotal hypoplasia  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short attention span  (IAGP)
Short finger  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Sleep disturbance  (IAGP)
Sloping forehead  (IAGP)
Small hand  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Status epilepticus without prominent motor symptoms  (IAGP)
Stereotypical hand wringing  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Sudden episodic apnea  (IAGP)
Talipes equinovarus  (IAGP)
Telangiectasia  (IAGP)
Telecanthus  (IAGP)
Tented philtrum  (IAGP)
Thin vermilion border  (IAGP)
Tibial torsion  (IAGP)
Tongue thrusting  (IAGP)
Tremor  (IAGP)
Typical absence seizure  (IAGP)
Umbilical hernia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Unsteady gait  (IAGP)
Ureterocele  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
Wide nose  (IAGP)
Widened subarachnoid space  (IAGP)
References

Additional References at PubMed
PMID:7553862   PMID:7698978   PMID:7768895   PMID:8108429   PMID:8631738   PMID:8824310   PMID:9045631   PMID:9115738   PMID:9395480   PMID:9545644   PMID:9933594   PMID:10194441  
PMID:10449403   PMID:10746715   PMID:10903204   PMID:11927603   PMID:12016213   PMID:12093152   PMID:12477932   PMID:12519779   PMID:12590134   PMID:12730201   PMID:12773094   PMID:12950453  
PMID:12963086   PMID:14702039   PMID:14702098   PMID:14744865   PMID:15175344   PMID:15217342   PMID:15489225   PMID:15489334   PMID:15563604   PMID:15592455   PMID:15635413   PMID:16049941  
PMID:16413130   PMID:16722236   PMID:17200691   PMID:17264080   PMID:17363971   PMID:17500595   PMID:17543282   PMID:18268500   PMID:18617632   PMID:18854154   PMID:19019082   PMID:19056867  
PMID:19557857   PMID:19686046   PMID:19748891   PMID:20471030   PMID:20681955   PMID:20887364   PMID:21204804   PMID:21364700   PMID:21565611   PMID:21669024   PMID:21762454   PMID:21770924  
PMID:21832049   PMID:21866423   PMID:21873635   PMID:22199357   PMID:22211739   PMID:22360420   PMID:22658674   PMID:22939629   PMID:23091057   PMID:23487749   PMID:23858467   PMID:23898208  
PMID:24189369   PMID:24623842   PMID:24700782   PMID:25008876   PMID:25190515   PMID:25416956   PMID:25418441   PMID:25496667   PMID:25631041   PMID:25714420   PMID:25818041   PMID:25893612  
PMID:25910212   PMID:25921289   PMID:26186194   PMID:26280581   PMID:26344197   PMID:26384463   PMID:26395556   PMID:26496610   PMID:26514267   PMID:26514728   PMID:26628003   PMID:26635000  
PMID:26792863   PMID:26865513   PMID:26918652   PMID:26949251   PMID:27905812   PMID:28325894   PMID:28514442   PMID:28792770   PMID:29067685   PMID:29438995   PMID:29485200   PMID:29507755  
PMID:29538625   PMID:29599780   PMID:29718889   PMID:29896790   PMID:29955894   PMID:30275014   PMID:30540253   PMID:30654231   PMID:31280863   PMID:31344879   PMID:31387522   PMID:31536960  
PMID:31586073   PMID:31976320   PMID:32112430   PMID:32296183   PMID:32321873   PMID:32521962   PMID:32814053   PMID:32853554   PMID:33001583  


Genomics

Comparative Map Data
STXBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9127,579,370 - 127,696,027 (+)EnsemblGRCh38hg38GRCh38
GRCh389127,611,912 - 127,696,029 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379130,374,191 - 130,458,308 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh379130,374,486 - 130,454,995 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,414,390 - 129,494,816 (+)NCBINCBI36hg18NCBI36
Build 349127,454,121 - 127,534,549NCBI
Celera9101,025,378 - 101,105,881 (+)NCBI
Cytogenetic Map9q34.11NCBI
HuRef999,990,647 - 100,071,101 (+)NCBIHuRef
CHM1_19130,525,679 - 130,606,190 (+)NCBICHM1_1
Stxbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,677,619 - 32,737,249 (-)NCBIGRCm39mm39
GRCm38232,787,607 - 32,847,237 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,787,602 - 32,847,245 (-)EnsemblGRCm38mm10GRCm38
MGSCv37232,643,127 - 32,702,757 (-)NCBIGRCm37mm9NCBIm37
MGSCv36232,609,971 - 32,669,135 (-)NCBImm8
Celera232,494,462 - 32,554,183 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
Stxbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2316,076,725 - 16,138,431 (-)NCBI
Rnor_6.0 Ensembl311,823,785 - 11,885,417 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0311,823,779 - 11,885,479 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0317,160,752 - 17,221,893 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,762,105 - 11,825,531 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1311,658,476 - 11,721,903 (-)NCBI
Celera310,816,317 - 10,877,576 (-)NCBICelera
RH 3.4 Map379.6RGD
Cytogenetic Map3p11NCBI
Stxbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955419963,829 - 1,000,759 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955419963,829 - 1,000,759 (-)NCBIChiLan1.0ChiLan1.0
STXBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19127,434,080 - 127,483,971 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,434,080 - 127,486,152 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0998,731,527 - 98,811,608 (+)NCBIMhudiblu_PPA_v0panPan3
STXBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl955,678,264 - 55,727,680 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1955,690,939 - 55,768,008 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Stxbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493648715,300,758 - 15,367,475 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STXBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1268,116,118 - 268,213,921 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11268,116,124 - 268,205,805 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21302,023,293 - 302,098,188 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STXBP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,440,061 - 10,519,798 (-)NCBI
ChlSab1.1 Ensembl1210,439,801 - 10,519,777 (-)Ensembl
Stxbp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247607,843,741 - 7,914,444 (-)NCBI

Position Markers
WI-17094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,454,365 - 130,454,497UniSTSGRCh37
Build 369129,494,186 - 129,494,318RGDNCBI36
Celera9101,105,251 - 101,105,383RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,070,471 - 100,070,603UniSTS
GeneMap99-GB4 RH Map9388.74UniSTS
Whitehead-RH Map9469.7UniSTS
D9S1763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,454,766 - 130,454,857UniSTSGRCh37
Build 369129,494,587 - 129,494,678RGDNCBI36
Celera9101,105,652 - 101,105,743RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,070,872 - 100,070,963UniSTS
STXBP1_858.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,454,230 - 130,454,964UniSTSGRCh37
Build 369129,494,051 - 129,494,785RGDNCBI36
Celera9101,105,116 - 101,105,850RGD
HuRef9100,070,336 - 100,071,070UniSTS
1986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,453,209 - 130,453,293UniSTSGRCh37
Build 369129,493,030 - 129,493,114RGDNCBI36
Celera9101,104,095 - 101,104,179RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,069,315 - 100,069,399UniSTS
GeneMap99-GB4 RH Map9385.71UniSTS
D9S1144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,454,765 - 130,454,977UniSTSGRCh37
Build 369129,494,586 - 129,494,798RGDNCBI36
Celera9101,105,651 - 101,105,863RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,070,871 - 100,071,083UniSTS
GeneMap99-GB4 RH Map9388.22UniSTS
Whitehead-RH Map9464.3UniSTS
D9S1028E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,454,565 - 130,454,656UniSTSGRCh37
Build 369129,494,386 - 129,494,477RGDNCBI36
Celera9101,105,451 - 101,105,542RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,070,671 - 100,070,762UniSTS
GeneMap99-GB4 RH Map9385.61UniSTS
WI-4184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,393,541 - 130,393,803UniSTSGRCh37
Build 369129,433,362 - 129,433,624RGDNCBI36
Celera9101,044,433 - 101,044,695RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,009,651 - 100,009,913UniSTS
Whitehead-RH Map9473.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3950
Count of miRNA genes:964
Interacting mature miRNAs:1128
Transcripts:ENST00000373299, ENST00000373302, ENST00000476182, ENST00000481942, ENST00000494254, ENST00000495829, ENST00000496504
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1664 1480 1240 42 229 32 2748 903 3508 217 1148 1561 19 1198 1576 3
Low 766 960 464 562 929 413 1608 1290 222 199 302 49 155 1 6 1212 2 1
Below cutoff 2 545 22 19 783 19 4 3 10 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC325017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y12723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373299   ⟹   ENSP00000362396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,277 - 127,692,699 (+)Ensembl
RefSeq Acc Id: ENST00000373302   ⟹   ENSP00000362399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,207 - 127,692,716 (+)Ensembl
RefSeq Acc Id: ENST00000476182   ⟹   ENSP00000490199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,361 - 127,613,751 (+)Ensembl
RefSeq Acc Id: ENST00000494254   ⟹   ENSP00000485397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,678,524 - 127,684,680 (+)Ensembl
RefSeq Acc Id: ENST00000496504   ⟹   ENSP00000485361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,661,133 - 127,663,722 (+)Ensembl
RefSeq Acc Id: ENST00000625363   ⟹   ENSP00000486944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,611,760 - 127,663,265 (+)Ensembl
RefSeq Acc Id: ENST00000626333   ⟹   ENSP00000486814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,642,343 - 127,663,258 (+)Ensembl
RefSeq Acc Id: ENST00000626416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,661,459 - 127,692,936 (+)Ensembl
RefSeq Acc Id: ENST00000626539   ⟹   ENSP00000487211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,611,834 - 127,692,735 (+)Ensembl
RefSeq Acc Id: ENST00000627871   ⟹   ENSP00000485895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,277 - 127,661,189 (+)Ensembl
RefSeq Acc Id: ENST00000628638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,679,785 - 127,691,061 (+)Ensembl
RefSeq Acc Id: ENST00000628768
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,690,134 - 127,692,715 (+)Ensembl
RefSeq Acc Id: ENST00000630492   ⟹   ENSP00000485680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,277 - 127,661,126 (+)Ensembl
RefSeq Acc Id: ENST00000635950   ⟹   ENSP00000490903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,222 - 127,696,027 (+)Ensembl
RefSeq Acc Id: ENST00000636509   ⟹   ENSP00000490810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,611,805 - 127,692,680 (+)Ensembl
RefSeq Acc Id: ENST00000636962   ⟹   ENSP00000489762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,222 - 127,696,027 (+)Ensembl
RefSeq Acc Id: ENST00000637060   ⟹   ENSP00000490674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,265 - 127,692,735 (+)Ensembl
RefSeq Acc Id: ENST00000637173   ⟹   ENSP00000490519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,265 - 127,692,936 (+)Ensembl
RefSeq Acc Id: ENST00000637464   ⟹   ENSP00000489655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,248 - 127,692,735 (+)Ensembl
RefSeq Acc Id: ENST00000637521   ⟹   ENSP00000489791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,579,370 - 127,690,886 (+)Ensembl
RefSeq Acc Id: ENST00000637953   ⟹   ENSP00000490613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,222 - 127,692,735 (+)Ensembl
RefSeq Acc Id: ENST00000647107   ⟹   ENSP00000494727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,651,624 - 127,684,513 (+)Ensembl
RefSeq Acc Id: ENST00000650920   ⟹   ENSP00000498834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,612,360 - 127,692,747 (+)Ensembl
RefSeq Acc Id: NM_001032221   ⟹   NP_001027392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
GRCh379130,374,486 - 130,454,995 (+)ENTREZGENE
Build 369129,414,390 - 129,494,816 (+)NCBI Archive
HuRef999,990,647 - 100,071,101 (+)ENTREZGENE
CHM1_19130,525,679 - 130,606,190 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374306   ⟹   NP_001361235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_001374307   ⟹   NP_001361236
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_001374308   ⟹   NP_001361237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_001374309   ⟹   NP_001361238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,611,912 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_001374310   ⟹   NP_001361239
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_001374311   ⟹   NP_001361240
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_001374312   ⟹   NP_001361241
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_001374313   ⟹   NP_001361242
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_001374314   ⟹   NP_001361243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,696,029 (+)NCBI
RefSeq Acc Id: NM_001374315   ⟹   NP_001361244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
RefSeq Acc Id: NM_003165   ⟹   NP_003156
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,692,699 (+)NCBI
GRCh379130,374,486 - 130,454,995 (+)NCBI
Build 369129,414,390 - 129,494,816 (+)NCBI Archive
HuRef999,990,647 - 100,071,101 (+)ENTREZGENE
CHM1_19130,525,679 - 130,606,190 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003156   ⟸   NM_003165
- Peptide Label: isoform a
- UniProtKB: P61764 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001027392   ⟸   NM_001032221
- Peptide Label: isoform b
- UniProtKB: P61764 (UniProtKB/Swiss-Prot),   Q68CM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001361238   ⟸   NM_001374309
- Peptide Label: isoform e
RefSeq Acc Id: NP_001361243   ⟸   NM_001374314
- Peptide Label: isoform g
RefSeq Acc Id: NP_001361237   ⟸   NM_001374308
- Peptide Label: isoform d
RefSeq Acc Id: NP_001361239   ⟸   NM_001374310
- Peptide Label: isoform e
RefSeq Acc Id: NP_001361241   ⟸   NM_001374312
- Peptide Label: isoform e
RefSeq Acc Id: NP_001361236   ⟸   NM_001374307
- Peptide Label: isoform d
RefSeq Acc Id: NP_001361240   ⟸   NM_001374311
- Peptide Label: isoform e
RefSeq Acc Id: NP_001361242   ⟸   NM_001374313
- Peptide Label: isoform f
RefSeq Acc Id: NP_001361244   ⟸   NM_001374315
- Peptide Label: isoform h
RefSeq Acc Id: NP_001361235   ⟸   NM_001374306
- Peptide Label: isoform c
RefSeq Acc Id: ENSP00000490903   ⟸   ENST00000635950
RefSeq Acc Id: ENSP00000490810   ⟸   ENST00000636509
RefSeq Acc Id: ENSP00000489762   ⟸   ENST00000636962
RefSeq Acc Id: ENSP00000362399   ⟸   ENST00000373302
RefSeq Acc Id: ENSP00000489791   ⟸   ENST00000637521
RefSeq Acc Id: ENSP00000489655   ⟸   ENST00000637464
RefSeq Acc Id: ENSP00000362396   ⟸   ENST00000373299
RefSeq Acc Id: ENSP00000490519   ⟸   ENST00000637173
RefSeq Acc Id: ENSP00000490613   ⟸   ENST00000637953
RefSeq Acc Id: ENSP00000490674   ⟸   ENST00000637060
RefSeq Acc Id: ENSP00000486944   ⟸   ENST00000625363
RefSeq Acc Id: ENSP00000498834   ⟸   ENST00000650920
RefSeq Acc Id: ENSP00000485397   ⟸   ENST00000494254
RefSeq Acc Id: ENSP00000487211   ⟸   ENST00000626539
RefSeq Acc Id: ENSP00000486814   ⟸   ENST00000626333
RefSeq Acc Id: ENSP00000485895   ⟸   ENST00000627871
RefSeq Acc Id: ENSP00000485361   ⟸   ENST00000496504
RefSeq Acc Id: ENSP00000485680   ⟸   ENST00000630492
RefSeq Acc Id: ENSP00000494727   ⟸   ENST00000647107
RefSeq Acc Id: ENSP00000490199   ⟸   ENST00000476182

Promoters
RGD ID:7216189
Promoter ID:EPDNEW_H13841
Type:initiation region
Name:STXBP1_1
Description:syntaxin binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13840  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,612,277 - 127,612,337EPDNEW
RGD ID:6808277
Promoter ID:HG_KWN:65025
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001032221,   NM_003165,   OTTHUMT00000259158
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,413,994 - 129,414,494 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003165.4(STXBP1):c.1789G>A (p.Asp597Asn) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000531208]|not specified [RCV000616758] Chr9:127684454 [GRCh38]
Chr9:130446733 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_003165.4(STXBP1):c.1381_1390del (p.Lys461fs) deletion Early infantile epileptic encephalopathy 4 [RCV001253253]|Infantile epileptic dyskinetic encephalopathy [RCV001053882]|not provided [RCV000519905] Chr9:127678444..127678453 [GRCh38]
Chr9:130440723..130440732 [GRCh37]
Chr9:9q34.11
pathogenic
STXBP1, 1-BP DEL, 1206T deletion Variant of unknown significance [RCV000032659] Chr9:9q34.1 uncertain significance
Single allele deletion Early infantile epileptic encephalopathy 4 [RCV000735211] Chr9:130248090..130388197 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
NM_003165.4(STXBP1):c.1434G>C (p.Trp478Cys) single nucleotide variant not provided [RCV000729430] Chr9:127678505 [GRCh38]
Chr9:130440784 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.6C>T (p.Ala2=) single nucleotide variant History of neurodevelopmental disorder [RCV000719507]|Infantile epileptic dyskinetic encephalopathy [RCV000537277]|not specified [RCV000517304] Chr9:127612409 [GRCh38]
Chr9:130374688 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_003165.4(STXBP1):c.171T>C (p.Ile57=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000547276] Chr9:127658376 [GRCh38]
Chr9:130420655 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.707G>A (p.Gly236Asp) single nucleotide variant not provided [RCV000519228] Chr9:127666209 [GRCh38]
Chr9:130428488 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.902+10C>T single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000601965] Chr9:127668197 [GRCh38]
Chr9:130430476 [GRCh37]
Chr9:9q34.11
likely benign
NM_001032221.6(STXBP1):c.1111-2A>G single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000721132]|Infantile epileptic dyskinetic encephalopathy [RCV000527133] Chr9:127675802 [GRCh38]
Chr9:130438081 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.326-1G>T single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV001030035]|Infantile epileptic dyskinetic encephalopathy [RCV000543201] Chr9:127661101 [GRCh38]
Chr9:130423380 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000007118] Chr9:127682489 [GRCh38]
Chr9:130444768 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000007119]|History of neurodevelopmental disorder [RCV000715110] Chr9:127663314 [GRCh38]
Chr9:130425593 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000007120] Chr9:127676722 [GRCh38]
Chr9:130439001 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000007121] Chr9:127660034 [GRCh38]
Chr9:130422313 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000007122]|Inborn genetic diseases [RCV001266381]|Infantile epilepsy syndrome [RCV001265424]|Infantile epileptic dyskinetic encephalopathy [RCV000539734]|not provided [RCV000189612] Chr9:127675855 [GRCh38]
Chr9:130438134 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.169+1G>A single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000007123] Chr9:127653797 [GRCh38]
Chr9:130416076 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000114939]|Infantile epileptic dyskinetic encephalopathy [RCV000525775]|not provided [RCV000440506] Chr9:127668132 [GRCh38]
Chr9:130430411 [GRCh37]
Chr9:9q34.11
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 9q33.3-34.11(chr9:126081595-127781685)x1 copy number loss See cases [RCV000050860] Chr9:126081595..127781685 [GRCh38]
Chr9:128843874..130543964 [GRCh37]
Chr9:127883695..129583785 [NCBI36]
Chr9:9q33.3-34.11
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 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 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11
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 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
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
NM_003165.3(STXBP1):c.1306G>A (p.Asp436Asn) single nucleotide variant Malignant melanoma [RCV000061894] Chr9:127676700 [GRCh38]
Chr9:130438979 [GRCh37]
Chr9:129478800 [NCBI36]
Chr9:9q34.11
not provided
NM_003165.4(STXBP1):c.685C>T (p.Gln229Ter) single nucleotide variant Infantile epilepsy syndrome [RCV001265417]|Infantile epileptic dyskinetic encephalopathy [RCV001202015]|not provided [RCV000657782] Chr9:127666187 [GRCh38]
Chr9:130428466 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) single nucleotide variant Congenital cerebellar hypoplasia [RCV001258011]|Early infantile epileptic encephalopathy 4 [RCV000779645]|not provided [RCV000080077] Chr9:127672091 [GRCh38]
Chr9:130434370 [GRCh37]
Chr9:9q34.11
likely pathogenic|uncertain significance
NM_003165.4(STXBP1):c.1548C>T (p.Ser516=) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000610135]|History of neurodevelopmental disorder [RCV000718653]|Infantile epileptic dyskinetic encephalopathy [RCV000470734]|not specified [RCV000186666] Chr9:127682406 [GRCh38]
Chr9:130444685 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_003165.4(STXBP1):c.325+8C>T single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000613435]|Infantile epileptic dyskinetic encephalopathy [RCV001079732]|not provided [RCV000713556]|not specified [RCV000080079] Chr9:127660116 [GRCh38]
Chr9:130422395 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_003165.4(STXBP1):c.38-3T>C single nucleotide variant History of neurodevelopmental disorder [RCV000715135]|Infantile epileptic dyskinetic encephalopathy [RCV000230972]|not provided [RCV000713557]|not specified [RCV000147704] Chr9:127651600 [GRCh38]
Chr9:130413879 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.247-8A>G single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000609695]|Infantile epileptic dyskinetic encephalopathy [RCV000233301]|not specified [RCV000147703] Chr9:127660022 [GRCh38]
Chr9:130422301 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.326-8A>G single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000471097]|not specified [RCV000128312] Chr9:127661094 [GRCh38]
Chr9:130423373 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.627C>T (p.Leu209=) single nucleotide variant History of neurodevelopmental disorder [RCV000720154]|Infantile epileptic dyskinetic encephalopathy [RCV000524692]|not specified [RCV000128313] Chr9:127665295 [GRCh38]
Chr9:130427574 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.663+17C>T single nucleotide variant not specified [RCV000128314] Chr9:127665348 [GRCh38]
Chr9:130427627 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.846C>T (p.Asp282=) single nucleotide variant History of neurodevelopmental disorder [RCV000715080]|Infantile epileptic dyskinetic encephalopathy [RCV000457484]|not provided [RCV000713558]|not specified [RCV000147707] Chr9:127668131 [GRCh38]
Chr9:130430410 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.888C>T (p.Ile296=) single nucleotide variant History of neurodevelopmental disorder [RCV000718614]|Infantile epileptic dyskinetic encephalopathy [RCV001084365]|not provided [RCV000713559]|not specified [RCV000128316] Chr9:127668173 [GRCh38]
Chr9:130430452 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_003165.4(STXBP1):c.902+15C>T single nucleotide variant not specified [RCV000128317] Chr9:127668202 [GRCh38]
Chr9:130430481 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.1356C>T (p.Thr452=) single nucleotide variant History of neurodevelopmental disorder [RCV000717285]|Infantile epileptic dyskinetic encephalopathy [RCV000476355]|not specified [RCV000147701] Chr9:127676750 [GRCh38]
Chr9:130439029 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.1359+15C>T single nucleotide variant not specified [RCV000128319] Chr9:127676768 [GRCh38]
Chr9:130439047 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_003165.4(STXBP1):c.6C>A (p.Ala2=) single nucleotide variant not specified [RCV000128320] Chr9:127612409 [GRCh38]
Chr9:130374688 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.1662C>T (p.Tyr554=) single nucleotide variant History of neurodevelopmental disorder [RCV000715109]|Infantile epileptic dyskinetic encephalopathy [RCV000463015]|not specified [RCV000128321] Chr9:127682520 [GRCh38]
Chr9:130444799 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_003165.4(STXBP1):c.1680C>T (p.Asn560=) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000147702]|History of neurodevelopmental disorder [RCV000720150]|Infantile epileptic dyskinetic encephalopathy [RCV000863608]|not specified [RCV000128322] Chr9:127682538 [GRCh38]
Chr9:130444817 [GRCh37]
Chr9:9q34.11
benign|likely benign|uncertain significance
NM_003165.4(STXBP1):c.1702+10C>T single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000616011]|Infantile epileptic dyskinetic encephalopathy [RCV000230027]|not specified [RCV000128323] Chr9:127682570 [GRCh38]
Chr9:130444849 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.1702+11G>A single nucleotide variant not specified [RCV000128324] Chr9:127682571 [GRCh38]
Chr9:130444850 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000515202]|Early onset epileptic encephalopathy [RCV000509312]|Inborn genetic diseases [RCV001266353]|Infantile epilepsy syndrome [RCV001265420]|Infantile epileptic dyskinetic encephalopathy [RCV000700520]|not provided [RCV000171427]|not specified [RCV000502114] Chr9:127668159 [GRCh38]
Chr9:130430438 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001032221.6(STXBP1):c.1461+1G>T single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV001004748] Chr9:127678533 [GRCh38]
Chr9:130440812 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000179420]|Global developmental delay [RCV000626842]|Infantile epilepsy syndrome [RCV001265297]|Intellectual disability [RCV001260782]|not provided [RCV000189595] Chr9:127661140 [GRCh38]
Chr9:130423419 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.875G>T (p.Arg292Leu) single nucleotide variant Inborn genetic diseases [RCV000190701] Chr9:127668160 [GRCh38]
Chr9:130430439 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.587A>G (p.Lys196Arg) single nucleotide variant Malignant tumor of prostate [RCV000149143] Chr9:127665255 [GRCh38]
Chr9:130427534 [GRCh37]
Chr9:9q34.11
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_003165.4(STXBP1):c.734A>G (p.His245Arg) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000147705]|Infantile epilepsy syndrome [RCV001265418]|Infantile epileptic dyskinetic encephalopathy [RCV000636306]|not specified [RCV000502234] Chr9:127666236 [GRCh38]
Chr9:130428515 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|uncertain significance
NM_001032221.4(STXBP1):c.754_755del (p.Met252fs) deletion Early infantile epileptic encephalopathy 4 [RCV000147706] Chr9:127666255..127666256 [GRCh38]
Chr9:130428534..130428535 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1548-7T>C single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000869699]|not specified [RCV000195018] Chr9:127682399 [GRCh38]
Chr9:130444678 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003165.4(STXBP1):c.433T>C (p.Tyr145His) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000147709] Chr9:127663208 [GRCh38]
Chr9:130425487 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.714C>A (p.Asp238Glu) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000147710] Chr9:127666216 [GRCh38]
Chr9:130428495 [GRCh37]
Chr9:9q34.11
uncertain significance
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 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11
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 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 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
NM_003165.4(STXBP1):c.902+9C>A single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636541]|not specified [RCV000153996] Chr9:127668196 [GRCh38]
Chr9:130430475 [GRCh37]
Chr9:9q34.11
benign|likely benign
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_003165.4(STXBP1):c.1804A>G (p.Met602Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000543561]|not specified [RCV000189592] Chr9:127684469 [GRCh38]
Chr9:130446748 [GRCh37]
Chr9:9q34.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003165.4(STXBP1):c.1029+1G>T single nucleotide variant not provided [RCV000595386] Chr9:127672117 [GRCh38]
Chr9:130434396 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1277T>C (p.Leu426Pro) single nucleotide variant Infantile epilepsy syndrome [RCV001265291]|Infantile epileptic dyskinetic encephalopathy [RCV001240474]|not provided [RCV000254966] Chr9:127676671 [GRCh38]
Chr9:130438950 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.548T>C (p.Leu183Pro) single nucleotide variant not provided [RCV000179854] Chr9:127663323 [GRCh38]
Chr9:130425602 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) single nucleotide variant Congenital cerebellar hypoplasia [RCV001258012]|Early infantile epileptic encephalopathy 4 [RCV000504117]|Early infantile epileptic encephalopathy 4 [RCV000779652]|Infantile epilepsy syndrome [RCV001265518]|Infantile epileptic dyskinetic encephalopathy [RCV000796167]|not provided [RCV000180590] Chr9:127666206 [GRCh38]
Chr9:130428485 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003165.4(STXBP1):c.1029+1G>C single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000193347] Chr9:127672117 [GRCh38]
Chr9:130434396 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1231T>C (p.Tyr411His) single nucleotide variant not specified [RCV000193990] Chr9:127675924 [GRCh38]
Chr9:130438203 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.38-30CT[7] microsatellite not specified [RCV000189581] Chr9:127651573..127651574 [GRCh38]
Chr9:130413852..130413853 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.1548-7_1548-4del deletion Infantile epileptic dyskinetic encephalopathy [RCV000636599]|not specified [RCV000189591] Chr9:127682396..127682399 [GRCh38]
Chr9:130444675..130444678 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.87+1G>A single nucleotide variant not provided [RCV000189593] Chr9:127651653 [GRCh38]
Chr9:130413932 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.88-2A>C single nucleotide variant not provided [RCV000189594] Chr9:127653713 [GRCh38]
Chr9:130415992 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.224A>G (p.Tyr75Cys) single nucleotide variant Infantile epilepsy syndrome [RCV001265425] Chr9:127658429 [GRCh38]
Chr9:130420708 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000416131]|Infantile epileptic dyskinetic encephalopathy [RCV001061798]|Intellectual disability [RCV001260844]|Seizures [RCV000851509]|not provided [RCV000189597] Chr9:127661192 [GRCh38]
Chr9:130423471 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.430-1G>T single nucleotide variant not provided [RCV000189598] Chr9:127663204 [GRCh38]
Chr9:130425483 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000415749]|Infantile epilepsy syndrome [RCV001265515]|Infantile epileptic dyskinetic encephalopathy [RCV000548823]|not provided [RCV000189599] Chr9:127663343 [GRCh38]
Chr9:130425622 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.569G>A (p.Arg190Gln) single nucleotide variant Autistic disorder of childhood onset [RCV001003592]|Infantile epileptic dyskinetic encephalopathy [RCV000796165]|not provided [RCV000189600] Chr9:127663344 [GRCh38]
Chr9:130425623 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|uncertain significance
NM_003165.4(STXBP1):c.578+1G>T single nucleotide variant not provided [RCV000189601] Chr9:127663354 [GRCh38]
Chr9:130425633 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1093C>T (p.Leu365Phe) single nucleotide variant not provided [RCV000189602] Chr9:127673244 [GRCh38]
Chr9:130435523 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000415997]|Infantile epilepsy syndrome [RCV001265520]|Infantile epileptic dyskinetic encephalopathy [RCV000819097]|not provided [RCV000189604] Chr9:127666205 [GRCh38]
Chr9:130428484 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.3(STXBP1):c.795-1G>A single nucleotide variant not provided [RCV000189605] Chr9:127668079 [GRCh38]
Chr9:130430358 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.6(STXBP1):c.875G>A single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000416099]|Inborn genetic diseases [RCV000623542]|Infantile epilepsy syndrome [RCV001265522]|Infantile epileptic dyskinetic encephalopathy [RCV000636416]|not provided [RCV000189606] Chr9:127668160 [GRCh38]
Chr9:130430439 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.904G>T (p.Glu302Ter) single nucleotide variant not provided [RCV000189607] Chr9:127669899 [GRCh38]
Chr9:130432178 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.997A>G (p.Lys333Glu) single nucleotide variant not provided [RCV000189608] Chr9:127672084 [GRCh38]
Chr9:130434363 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1030-1G>T single nucleotide variant not provided [RCV000189609] Chr9:127673180 [GRCh38]
Chr9:130435459 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1061G>A (p.Cys354Tyr) single nucleotide variant Infantile epilepsy syndrome [RCV001265298]|not provided [RCV000189610] Chr9:127673212 [GRCh38]
Chr9:130435491 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) single nucleotide variant Epileptic encephalopathy [RCV000416987]|Infantile epilepsy syndrome [RCV001265514]|Infantile epileptic dyskinetic encephalopathy [RCV000477371]|Intellectual disability [RCV001260836]|not provided [RCV000189611] Chr9:127673250 [GRCh38]
Chr9:130435529 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1216C>T (p.Arg406Cys) single nucleotide variant Epileptic encephalopathy [RCV000417024]|Infantile epilepsy syndrome [RCV001265293]|Infantile epileptic dyskinetic encephalopathy [RCV000636419]|not provided [RCV000189614] Chr9:127675909 [GRCh38]
Chr9:130438188 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000415832]|Infantile epileptic dyskinetic encephalopathy [RCV000471170]|Intellectual disability [RCV001260800]|not provided [RCV000189615] Chr9:127678510 [GRCh38]
Chr9:130440789 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1250G>A (p.Gly417Asp) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636282]|not specified [RCV000189616] Chr9:127676644 [GRCh38]
Chr9:130438923 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1359+1G>A single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001204641]|not provided [RCV000189618] Chr9:127676754 [GRCh38]
Chr9:130439033 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.3(STXBP1):c.1373G>A (p.Arg458His) single nucleotide variant not specified [RCV000189619] Chr9:127678444 [GRCh38]
Chr9:130440723 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1514G>A (p.Arg505His) single nucleotide variant not provided [RCV000189620] Chr9:127680209 [GRCh38]
Chr9:130442488 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1651C>A (p.Arg551Ser) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000789013]|not provided [RCV000189622] Chr9:127682509 [GRCh38]
Chr9:130444788 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000415936]|Infantile epilepsy syndrome [RCV001265516]|Infantile epileptic dyskinetic encephalopathy [RCV001071757]|not provided [RCV000189623] Chr9:127682509 [GRCh38]
Chr9:130444788 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1652G>C (p.Arg551Pro) single nucleotide variant not provided [RCV000189624] Chr9:127682510 [GRCh38]
Chr9:130444789 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.3(STXBP1):c.1663G>T (p.Glu555Ter) single nucleotide variant not provided [RCV000189625] Chr9:127682521 [GRCh38]
Chr9:130444800 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1672C>T (p.Gln558Ter) single nucleotide variant not provided [RCV000189626] Chr9:127682530 [GRCh38]
Chr9:130444809 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1702+1G>A single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV001253119]|Infantile epilepsy syndrome [RCV001265152]|Infantile epileptic dyskinetic encephalopathy [RCV000796895]|STXBP1-associated neurodevelopmental disorder [RCV000578282]|not provided [RCV000189627] Chr9:127682561 [GRCh38]
Chr9:130444840 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.36G>C (p.Glu12Asp) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001218642]|not provided [RCV000189628] Chr9:127612439 [GRCh38]
Chr9:130374718 [GRCh37]
Chr9:9q34.11
benign|uncertain significance
NM_003165.4(STXBP1):c.37+3A>T single nucleotide variant Infantile epilepsy syndrome [RCV001265153]|not provided [RCV000189629] Chr9:127612443 [GRCh38]
Chr9:130374722 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.124del (p.Ser42fs) deletion not provided [RCV000189630] Chr9:127653751 [GRCh38]
Chr9:130416030 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.125_127CCT[1] (p.Ser43del) microsatellite Early infantile epileptic encephalopathy 4 [RCV001262403]|Early onset epileptic encephalopathy [RCV000509384]|not specified [RCV000189631] Chr9:127653751..127653753 [GRCh38]
Chr9:130416030..130416032 [GRCh37]
Chr9:9q34.11
uncertain significance|not provided
NM_003165.4(STXBP1):c.578+1dup duplication not provided [RCV000189632] Chr9:127663349..127663350 [GRCh38]
Chr9:130425628..130425629 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.895_896GT[1] (p.Ser300fs) microsatellite not provided [RCV000189633] Chr9:127668180..127668181 [GRCh38]
Chr9:130430459..130430460 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1169_1175dup (p.Ile393fs) duplication not provided [RCV000189634] Chr9:127675861..127675862 [GRCh38]
Chr9:130438140..130438141 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1296dup (p.Pro433fs) duplication not provided [RCV000189635] Chr9:127676689..127676690 [GRCh38]
Chr9:130438968..130438969 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1611_1613CAT[1] (p.Ile539del) microsatellite not provided [RCV000189636] Chr9:127682468..127682470 [GRCh38]
Chr9:130444747..130444749 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.3(STXBP1):c.167C>G (p.Thr56Arg) single nucleotide variant not provided [RCV000189637] Chr9:127653794 [GRCh38]
Chr9:130416073 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.703C>G (p.Arg235Gly) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000549629] Chr9:127666205 [GRCh38]
Chr9:130428484 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.3(STXBP1):c.815G>A (p.Gly272Glu) single nucleotide variant not specified [RCV000189639] Chr9:127668100 [GRCh38]
Chr9:130430379 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.3(STXBP1):c.1370G>A (p.Arg457His) single nucleotide variant not specified [RCV000189640] Chr9:127678441 [GRCh38]
Chr9:130440720 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.386_387CT[1] (p.Leu130fs) microsatellite not provided [RCV000189641] Chr9:127661162..127661163 [GRCh38]
Chr9:130423441..130423442 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1470del (p.Ile490fs) deletion not provided [RCV000189643] Chr9:127680164 [GRCh38]
Chr9:130442443 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1510del (p.Thr504fs) deletion not provided [RCV000189644] Chr9:127680205 [GRCh38]
Chr9:130442484 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.*40del deletion not provided [RCV000189645] Chr9:127690798 [GRCh38]
Chr9:130453077 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.170-9G>T single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000865659]|not specified [RCV000189582] Chr9:127658366 [GRCh38]
Chr9:130420645 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_003165.4(STXBP1):c.246+15A>G single nucleotide variant not specified [RCV000189583] Chr9:127658466 [GRCh38]
Chr9:130420745 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.250G>A (p.Val84Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000720037]|Infantile epileptic dyskinetic encephalopathy [RCV001088539]|not provided [RCV000698059]|not specified [RCV000189584] Chr9:127660033 [GRCh38]
Chr9:130422312 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003165.4(STXBP1):c.281C>T (p.Pro94Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000720367]|Infantile epileptic dyskinetic encephalopathy [RCV001080320]|not provided [RCV000713555]|not specified [RCV000189585] Chr9:127660064 [GRCh38]
Chr9:130422343 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_003165.4(STXBP1):c.430-9C>T single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000560296]|not specified [RCV000189586] Chr9:127663196 [GRCh38]
Chr9:130425475 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_003165.4(STXBP1):c.681C>G (p.Arg227=) single nucleotide variant not provided [RCV000878050]|not specified [RCV000189587] Chr9:127666183 [GRCh38]
Chr9:130428462 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.807C>T (p.Ser269=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000227536]|not specified [RCV000189588] Chr9:127668092 [GRCh38]
Chr9:130430371 [GRCh37]
Chr9:9q34.11
likely pathogenic|benign|uncertain significance
NM_003165.4(STXBP1):c.1249+9G>A single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000860846]|not specified [RCV000189589] Chr9:127675951 [GRCh38]
Chr9:130438230 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_003165.4(STXBP1):c.1385C>T (p.Pro462Leu) single nucleotide variant not provided [RCV001288019]|not specified [RCV000189590] Chr9:127678456 [GRCh38]
Chr9:130440735 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_003165.4(STXBP1):c.619G>A (p.Asp207Asn) single nucleotide variant not provided [RCV000189603] Chr9:127665287 [GRCh38]
Chr9:130427566 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1193A>G (p.Asn398Ser) single nucleotide variant not provided [RCV000189613] Chr9:127675886 [GRCh38]
Chr9:130438165 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1256C>T (p.Thr419Met) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001088784]|not provided [RCV000189617] Chr9:127676650 [GRCh38]
Chr9:130438929 [GRCh37]
Chr9:9q34.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003165.4(STXBP1):c.1607G>A (p.Arg536His) single nucleotide variant History of neurodevelopmental disorder [RCV000720813]|Infantile epileptic dyskinetic encephalopathy [RCV001241309]|not specified [RCV000500216] Chr9:127682465 [GRCh38]
Chr9:130444744 [GRCh37]
Chr9:9q34.11
pathogenic|uncertain significance
GRCh37/hg19 9q34.11(chr9:130430429-130430704)x1 copy number loss See cases [RCV000240173] Chr9:130430429..130430704 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.798T>G (p.Tyr266Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000232712] Chr9:127668083 [GRCh38]
Chr9:130430362 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1548-18TC[3] microsatellite not specified [RCV000600901] Chr9:127682388..127682391 [GRCh38]
Chr9:130444667..130444670 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.417G>T (p.Pro139=) single nucleotide variant History of neurodevelopmental disorder [RCV000716822]|Infantile epileptic dyskinetic encephalopathy [RCV000636478]|not specified [RCV000600250] Chr9:127661193 [GRCh38]
Chr9:130423472 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.170-2A>G single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000680109]|Infantile epilepsy syndrome [RCV001265147]|not provided [RCV000578961] Chr9:127658373 [GRCh38]
Chr9:130420652 [GRCh37]
Chr9:9q34.11
pathogenic
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_003165.4(STXBP1):c.1404C>A (p.Ile468=) single nucleotide variant History of neurodevelopmental disorder [RCV000720376]|Infantile epileptic dyskinetic encephalopathy [RCV001083430]|not provided [RCV000725948]|not specified [RCV000251078] Chr9:127678475 [GRCh38]
Chr9:130440754 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q34.11(chr9:130373225-130453427)x1 copy number loss See cases [RCV000240279] Chr9:130373225..130453427 [GRCh37]
Chr9:9q34.11
pathogenic
GRCh37/hg19 9q34.11(chr9:130415943-130420935)x1 copy number loss See cases [RCV000240559] Chr9:130415943..130420935 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.30C>T (p.Val10=) single nucleotide variant not specified [RCV000243090] Chr9:127612433 [GRCh38]
Chr9:130374712 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.3(STXBP1):c.88-?_963+?dup duplication Infantile epileptic dyskinetic encephalopathy [RCV000239849]   uncertain significance
GRCh37/hg19 9q34.11(chr9:130420443-130420935)x1 copy number loss See cases [RCV000240315] Chr9:130420443..130420935 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1540G>A (p.Ala514Thr) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000530135] Chr9:127680235 [GRCh38]
Chr9:130442514 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.*911_*914del deletion Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000321326] Chr9:127691666..127691669 [GRCh38]
Chr9:130453945..130453948 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.-89G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000394718] Chr9:127612315 [GRCh38]
Chr9:130374594 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*879G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000268614] Chr9:127691637 [GRCh38]
Chr9:130453916 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.*1732C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000396064] Chr9:127692490 [GRCh38]
Chr9:130454769 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*1316C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000372411] Chr9:127692074 [GRCh38]
Chr9:130454353 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*405G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000397806] Chr9:127691163 [GRCh38]
Chr9:130453442 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.17-11G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000349243] Chr9:127690764 [GRCh38]
Chr9:130453043 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.*497T>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000308507] Chr9:127691255 [GRCh38]
Chr9:130453534 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*1596G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000291210] Chr9:127692354 [GRCh38]
Chr9:130454633 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*254C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000309542] Chr9:127691012 [GRCh38]
Chr9:130453291 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1320C>T (p.Ile440=) single nucleotide variant History of neurodevelopmental disorder [RCV000719597]|Infantile epileptic dyskinetic encephalopathy [RCV001080534]|not provided [RCV000726837]|not specified [RCV000516890] Chr9:127676714 [GRCh38]
Chr9:130438993 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003165.4(STXBP1):c.*1516T>C single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000292315] Chr9:127692274 [GRCh38]
Chr9:130454553 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.*1464C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000332890] Chr9:127692222 [GRCh38]
Chr9:130454501 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*1581G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000403171] Chr9:127692339 [GRCh38]
Chr9:130454618 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.255C>T (p.His85=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000942664]|not specified [RCV000605729] Chr9:127660038 [GRCh38]
Chr9:130422317 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_003165.4(STXBP1):c.*878C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000360951] Chr9:127691636 [GRCh38]
Chr9:130453915 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.*1422G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000280229] Chr9:127692180 [GRCh38]
Chr9:130454459 [GRCh37]
Chr9:9q34.11
likely benign
NM_001374309.2(STXBP1):c.-6+163G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000340375] Chr9:127612210 [GRCh38]
Chr9:130374489 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*1484C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000389015] Chr9:127692242 [GRCh38]
Chr9:130454521 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*1640C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000343792] Chr9:127692398 [GRCh38]
Chr9:130454677 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.*316C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000366697] Chr9:127691074 [GRCh38]
Chr9:130453353 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.708C>T (p.Gly236=) single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000271362] Chr9:127666210 [GRCh38]
Chr9:130428489 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.902+1G>C single nucleotide variant Infantile epilepsy syndrome [RCV001265146]|not provided [RCV000321668] Chr9:127668188 [GRCh38]
Chr9:130430467 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.*1057A>G single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000262644] Chr9:127691815 [GRCh38]
Chr9:130454094 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1060T>C (p.Cys354Arg) single nucleotide variant not provided [RCV000331872] Chr9:127673211 [GRCh38]
Chr9:130435490 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.124T>C (p.Ser42Pro) single nucleotide variant Infantile epilepsy syndrome [RCV001265295]|Infantile epileptic dyskinetic encephalopathy [RCV000792098]|not provided [RCV000334893] Chr9:127653751 [GRCh38]
Chr9:130416030 [GRCh37]
Chr9:9q34.11
pathogenic|uncertain significance
NM_003165.4(STXBP1):c.634delinsCAACAATGATG (p.Tyr212delinsGlnGlnTer) indel not provided [RCV000346123] Chr9:127665302 [GRCh38]
Chr9:130427581 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.662dup (p.Asp224fs) duplication not provided [RCV000347691] Chr9:127665329..127665330 [GRCh38]
Chr9:130427608..130427609 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.400_401del (p.Asn134fs) deletion not provided [RCV000352406] Chr9:127661176..127661177 [GRCh38]
Chr9:130423455..130423456 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000416146]|Inborn genetic diseases [RCV000622955]|Infantile epilepsy syndrome [RCV001265512]|Infantile epileptic dyskinetic encephalopathy [RCV000458588]|not provided [RCV000369586] Chr9:127675910 [GRCh38]
Chr9:130438189 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.1335C>T (p.His445=) single nucleotide variant not provided [RCV000329442] Chr9:127676729 [GRCh38]
Chr9:130439008 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.695T>A (p.Ile232Asn) single nucleotide variant not provided [RCV000489440] Chr9:127666197 [GRCh38]
Chr9:130428476 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1461G>C (p.Glu487Asp) single nucleotide variant not provided [RCV000523962] Chr9:127678532 [GRCh38]
Chr9:130440811 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.107T>G (p.Leu36Ter) single nucleotide variant not provided [RCV000489814] Chr9:127653734 [GRCh38]
Chr9:130416013 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.914G>A (p.Arg305Gln) single nucleotide variant not provided [RCV000489961] Chr9:127669909 [GRCh38]
Chr9:130432188 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1003C>T (p.Pro335Ser) single nucleotide variant not provided [RCV000489992] Chr9:127672090 [GRCh38]
Chr9:130434369 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.963+1G>T single nucleotide variant not provided [RCV000490148] Chr9:127669959 [GRCh38]
Chr9:130432238 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.*1836A>G single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000304101] Chr9:127692594 [GRCh38]
Chr9:130454873 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.*1543T>G single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000349620] Chr9:127692301 [GRCh38]
Chr9:130454580 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.*1073G>A single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000320031] Chr9:127691831 [GRCh38]
Chr9:130454110 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.767_769TGC[3] (p.Leu257dup) microsatellite not provided [RCV000521817] Chr9:127666267..127666268 [GRCh38]
Chr9:130428546..130428547 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_001374309.2(STXBP1):c.-6+162C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000285509] Chr9:127612209 [GRCh38]
Chr9:130374488 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.-91C>G single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000337067] Chr9:127612313 [GRCh38]
Chr9:130374592 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.791A>G (p.Tyr264Cys) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000585735]|Intellectual disability [RCV001260852] Chr9:127666293 [GRCh38]
Chr9:130428572 [GRCh37]
Chr9:9q34.11
likely pathogenic|uncertain significance
NM_003165.4(STXBP1):c.1110+6A>T single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001050427] Chr9:127673267 [GRCh38]
Chr9:130435546 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001374309.2(STXBP1):c.-6+200C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000394838] Chr9:127612247 [GRCh38]
Chr9:130374526 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.-117T>C single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000300880] Chr9:127612287 [GRCh38]
Chr9:130374566 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.*941G>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000359689] Chr9:127691699 [GRCh38]
Chr9:130453978 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.*166C>T single nucleotide variant Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000397819] Chr9:127690924 [GRCh38]
Chr9:130453203 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.639dup (p.Ala214fs) duplication Inborn genetic diseases [RCV000624056] Chr9:127665304..127665305 [GRCh38]
Chr9:130427583..130427584 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.88-2A>G single nucleotide variant not provided [RCV000579020] Chr9:127653713 [GRCh38]
Chr9:130415992 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1702+9C>T single nucleotide variant not specified [RCV000605455] Chr9:127682569 [GRCh38]
Chr9:130444848 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1075C>T (p.Gln359Ter) single nucleotide variant not provided [RCV000579060] Chr9:127673226 [GRCh38]
Chr9:130435505 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1569_1570del (p.His523fs) deletion Infantile epilepsy syndrome [RCV001265421]|not provided [RCV000599504] Chr9:127682426..127682427 [GRCh38]
Chr9:130444705..130444706 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1250-7C>T single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000552047] Chr9:127676637 [GRCh38]
Chr9:130438916 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.794+1G>A single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001214993]|not provided [RCV000596140] Chr9:127666297 [GRCh38]
Chr9:130428576 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.675G>A (p.Lys225=) single nucleotide variant not specified [RCV000603779] Chr9:127666177 [GRCh38]
Chr9:130428456 [GRCh37]
Chr9:9q34.11
likely benign
NM_001032221.4(STXBP1):c.1702+1912G>T single nucleotide variant not provided [RCV000591194] Chr9:127684472 [GRCh38]
Chr9:130446751 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1168A>G (p.Ile390Val) single nucleotide variant not provided [RCV000656248] Chr9:127675861 [GRCh38]
Chr9:130438140 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1454T>A (p.Ile485Asn) single nucleotide variant not provided [RCV000731273] Chr9:127678525 [GRCh38]
Chr9:130440804 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1082C>T (p.Thr361Ile) single nucleotide variant Epileptic encephalopathy [RCV000415156] Chr9:127673233 [GRCh38]
Chr9:130435512 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1249+1G>C single nucleotide variant not provided [RCV000416098] Chr9:127675943 [GRCh38]
Chr9:130438222 [GRCh37]
Chr9:9q34.11
pathogenic|uncertain significance
NM_003165.4(STXBP1):c.1360-2A>T single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000553132] Chr9:127678429 [GRCh38]
Chr9:130440708 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1072del (p.Tyr358fs) deletion Severe intellectual deficiency [RCV000415268] Chr9:127673222 [GRCh38]
Chr9:130435501 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.902+1G>A single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000415793] Chr9:127668188 [GRCh38]
Chr9:130430467 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1213A>G (p.Ile405Val) single nucleotide variant not provided [RCV000523988] Chr9:127675906 [GRCh38]
Chr9:130438185 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1549G>T (p.Ala517Ser) single nucleotide variant not provided [RCV000412866] Chr9:127682407 [GRCh38]
Chr9:130444686 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_001374309.2(STXBP1):c.-6+388GA[2] microsatellite not provided [RCV000413061] Chr9:127612435..127612436 [GRCh38]
Chr9:130374714..130374715 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.148dup (p.Ile50fs) duplication not provided [RCV000413558] Chr9:127653774..127653775 [GRCh38]
Chr9:130416053..130416054 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1093_1094CT[1] (p.Cys366fs) microsatellite not provided [RCV000413787] Chr9:127673244..127673245 [GRCh38]
Chr9:130435523..130435524 [GRCh37]
Chr9:9q34.11
pathogenic
NC_000009.12:g.(?_127658355)_(127658471_?)del deletion Infantile epileptic dyskinetic encephalopathy [RCV000558692] Chr9:127658355..127658471 [GRCh38]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.877C>T (p.His293Tyr) single nucleotide variant not provided [RCV000414192] Chr9:127668162 [GRCh38]
Chr9:130430441 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1652G>T (p.Arg551Leu) single nucleotide variant not provided [RCV000414301] Chr9:127682510 [GRCh38]
Chr9:130444789 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1012C>T (p.Gln338Ter) single nucleotide variant not provided [RCV000414453] Chr9:127672099 [GRCh38]
Chr9:130434378 [GRCh37]
Chr9:9q34.11
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
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 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11
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
NM_003165.4(STXBP1):c.247-13C>G single nucleotide variant not specified [RCV000427197] Chr9:127660017 [GRCh38]
Chr9:130422296 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1287C>T (p.His429=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000528210]|not specified [RCV000430899] Chr9:127676681 [GRCh38]
Chr9:130438960 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.794+5G>A single nucleotide variant Infantile epilepsy syndrome [RCV001265150]|not provided [RCV000444271] Chr9:127666301 [GRCh38]
Chr9:130428580 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.767T>C (p.Leu256Pro) single nucleotide variant not provided [RCV000444312] Chr9:127666269 [GRCh38]
Chr9:130428548 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.174G>T (p.Val58=) single nucleotide variant not provided [RCV000423951] Chr9:127658379 [GRCh38]
Chr9:130420658 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.902+18C>G single nucleotide variant not specified [RCV000431236] Chr9:127668205 [GRCh38]
Chr9:130430484 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.855C>T (p.Asp285=) single nucleotide variant not specified [RCV000431299] Chr9:127668140 [GRCh38]
Chr9:130430419 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1250-20C>T single nucleotide variant not specified [RCV000441499] Chr9:127676624 [GRCh38]
Chr9:130438903 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1302G>A (p.Pro434=) single nucleotide variant not specified [RCV000420984] Chr9:127676696 [GRCh38]
Chr9:130438975 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.237A>T (p.Pro79=) single nucleotide variant not specified [RCV000424064] Chr9:127658442 [GRCh38]
Chr9:130420721 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.768G>T (p.Leu256=) single nucleotide variant not specified [RCV000434689] Chr9:127666270 [GRCh38]
Chr9:130428549 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1722T>A (p.Thr574=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000555034]|not specified [RCV000428080] Chr9:127684387 [GRCh38]
Chr9:130446666 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.249C>T (p.Ser83=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000915341]|not specified [RCV000442313] Chr9:127660032 [GRCh38]
Chr9:130422311 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.169+18A>C single nucleotide variant not specified [RCV000418525] Chr9:127653814 [GRCh38]
Chr9:130416093 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.37+19C>T single nucleotide variant not specified [RCV000428313] Chr9:127612459 [GRCh38]
Chr9:130374738 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1249+9G>C single nucleotide variant not provided [RCV000872399]|not specified [RCV000428321] Chr9:127675951 [GRCh38]
Chr9:130438230 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.531G>A (p.Ala177=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000536193]|not specified [RCV000438796] Chr9:127663306 [GRCh38]
Chr9:130425585 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.795-14C>T single nucleotide variant not specified [RCV000432006] Chr9:127668066 [GRCh38]
Chr9:130430345 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1250-19G>A single nucleotide variant not specified [RCV000439002] Chr9:127676625 [GRCh38]
Chr9:130438904 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.1351G>A (p.Val451Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000716428]|Infantile epileptic dyskinetic encephalopathy [RCV001089280]|not provided [RCV000422875]|not specified [RCV000480717] Chr9:127676745 [GRCh38]
Chr9:130439024 [GRCh37]
Chr9:9q34.11
benign|likely benign|uncertain significance
NM_003165.4(STXBP1):c.902+11C>G single nucleotide variant not specified [RCV000428937] Chr9:127668198 [GRCh38]
Chr9:130430477 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1659C>T (p.Ala553=) single nucleotide variant not specified [RCV000439339] Chr9:127682517 [GRCh38]
Chr9:130444796 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.579-2A>G single nucleotide variant not provided [RCV000423631] Chr9:127665245 [GRCh38]
Chr9:130427524 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.964-5T>A single nucleotide variant not specified [RCV000439709] Chr9:127672046 [GRCh38]
Chr9:130434325 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1548-15C>A single nucleotide variant not specified [RCV000439720] Chr9:127682391 [GRCh38]
Chr9:130444670 [GRCh37]
Chr9:9q34.11
benign
NM_003165.4(STXBP1):c.1689G>A (p.Trp563Ter) single nucleotide variant not provided [RCV000427600] Chr9:127682547 [GRCh38]
Chr9:130444826 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1461+12G>A single nucleotide variant not specified [RCV000422357] Chr9:127678544 [GRCh38]
Chr9:130440823 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1642A>G (p.Asn548Asp) single nucleotide variant Infantile epilepsy syndrome [RCV001265344]|not provided [RCV000430934] Chr9:127682500 [GRCh38]
Chr9:130444779 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1462-13C>G single nucleotide variant not specified [RCV000422535] Chr9:127680144 [GRCh38]
Chr9:130442423 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1703-9C>T single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636509]|not specified [RCV000430096] Chr9:127684359 [GRCh38]
Chr9:130446638 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.156C>T (p.Thr52=) single nucleotide variant not specified [RCV000436886] Chr9:127653783 [GRCh38]
Chr9:130416062 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.552G>A (p.Lys184=) single nucleotide variant not specified [RCV000422942] Chr9:127663327 [GRCh38]
Chr9:130425606 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.88-17G>A single nucleotide variant not specified [RCV000426657] Chr9:127653698 [GRCh38]
Chr9:130415977 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1359+16A>C single nucleotide variant not specified [RCV000430289] Chr9:127676769 [GRCh38]
Chr9:130439048 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1107G>A (p.Glu369=) single nucleotide variant not specified [RCV000444203] Chr9:127673258 [GRCh38]
Chr9:130435537 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.743C>T (p.Thr248Ile) single nucleotide variant Infantile epilepsy syndrome [RCV001265299]|not provided [RCV000436434] Chr9:127666245 [GRCh38]
Chr9:130428524 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.903-4C>G single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000556322]|not specified [RCV000420337] Chr9:127669894 [GRCh38]
Chr9:130432173 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_003165.4(STXBP1):c.1360-2A>G single nucleotide variant not provided [RCV000438565] Chr9:127678429 [GRCh38]
Chr9:130440708 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.429+12T>C single nucleotide variant not specified [RCV000423367] Chr9:127661217 [GRCh38]
Chr9:130423496 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.326-4G>A single nucleotide variant not specified [RCV000437391] Chr9:127661098 [GRCh38]
Chr9:130423377 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.902+19C>A single nucleotide variant not specified [RCV000441074] Chr9:127668206 [GRCh38]
Chr9:130430485 [GRCh37]
Chr9:9q34.11
likely benign
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11
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_003165.4(STXBP1):c.1006C>T (p.Gln336Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000416539] Chr9:127672093 [GRCh38]
Chr9:130434372 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet) deletion Epileptic encephalopathy [RCV000417033]|not provided [RCV001268795] Chr9:127651622..127651624 [GRCh38]
Chr9:130413901..130413903 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1408G>T (p.Glu470Ter) single nucleotide variant Epileptic encephalopathy [RCV000416969] Chr9:127678479 [GRCh38]
Chr9:130440758 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1565G>A (p.Trp522Ter) single nucleotide variant Epileptic encephalopathy [RCV000416996] Chr9:127682423 [GRCh38]
Chr9:130444702 [GRCh37]
Chr9:9q34.11
pathogenic
Single allele duplication Epileptic encephalopathy [RCV000416971] Chr9:127659781..127677280 [GRCh38]
Chr9:130422060..130439559 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1365G>A (p.Thr455=) single nucleotide variant not provided [RCV000466647] Chr9:127678436 [GRCh38]
Chr9:130440715 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.84G>A (p.Trp28Ter) single nucleotide variant not provided [RCV000481498] Chr9:127651649 [GRCh38]
Chr9:130413928 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.420T>A (p.Tyr140Ter) single nucleotide variant not provided [RCV000481583] Chr9:127661196 [GRCh38]
Chr9:130423475 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.265del (p.Ser89fs) deletion Infantile epileptic dyskinetic encephalopathy [RCV000470907] Chr9:127660048 [GRCh38]
Chr9:130422327 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.964-13dup duplication not specified [RCV000484590] Chr9:127672036..127672037 [GRCh38]
Chr9:130434315..130434316 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.385A>C (p.Thr129Pro) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000456399] Chr9:127661161 [GRCh38]
Chr9:130423440 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.748C>T (p.Gln250Ter) single nucleotide variant not provided [RCV000483425] Chr9:127666250 [GRCh38]
Chr9:130428529 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1434G>A (p.Trp478Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000464099] Chr9:127678505 [GRCh38]
Chr9:130440784 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1204del (p.Tyr402fs) deletion not provided [RCV000483959] Chr9:127675896 [GRCh38]
Chr9:130438175 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.709_715del (p.Phe237fs) deletion not provided [RCV000484057] Chr9:127666210..127666216 [GRCh38]
Chr9:130428489..130428495 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1338C>T (p.Leu446=) single nucleotide variant not provided [RCV000472167] Chr9:127676732 [GRCh38]
Chr9:130439011 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.889G>A (p.Ala297Thr) single nucleotide variant not provided [RCV000485374] Chr9:127668174 [GRCh38]
Chr9:130430453 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.247-9dup duplication not specified [RCV000482000] Chr9:127660014..127660015 [GRCh38]
Chr9:130422293..130422294 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.579G>A (p.Gly193=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000465387] Chr9:127665247 [GRCh38]
Chr9:130427526 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1217G>T (p.Arg406Leu) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV001089744]|not provided [RCV000478807] Chr9:127675910 [GRCh38]
Chr9:130438189 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_003165.4(STXBP1):c.256_257TC[4] (p.Ile88fs) microsatellite Early infantile epileptic encephalopathy 4 [RCV001004751]|Infantile epilepsy syndrome [RCV001265294]|not provided [RCV000486113] Chr9:127660037..127660038 [GRCh38]
Chr9:130422316..130422317 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.974G>A (p.Arg325Gln) single nucleotide variant not specified [RCV000523418] Chr9:127672061 [GRCh38]
Chr9:130434340 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_003165.4(STXBP1):c.169+10C>T single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000461793] Chr9:127653806 [GRCh38]
Chr9:130416085 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.964-15del deletion not specified [RCV000486972] Chr9:127672034 [GRCh38]
Chr9:130434313 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1288G>A (p.Ala430Thr) single nucleotide variant Infantile epilepsy syndrome [RCV001265511]|not provided [RCV000478988] Chr9:127676682 [GRCh38]
Chr9:130438961 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001032221.4(STXBP1):c.87+2T>C single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000503704] Chr9:127651654 [GRCh38]
Chr9:130413933 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1755C>T (p.Pro585=) single nucleotide variant not specified [RCV000503790] Chr9:127684420 [GRCh38]
Chr9:130446699 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001032221.4(STXBP1):c.1706C>T (p.Ser569Phe) single nucleotide variant Non-syndromic intellectual disability [RCV000496201] Chr9:127690778 [GRCh38]
Chr9:130453057 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.575G>A (p.Arg192Gln) single nucleotide variant not specified [RCV000503899] Chr9:127663350 [GRCh38]
Chr9:130425629 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1257G>A (p.Thr419=) single nucleotide variant not provided [RCV001091117]|not specified [RCV000499576] Chr9:127676651 [GRCh38]
Chr9:130438930 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.78_79del (p.Glu27fs) deletion not provided [RCV000509434] Chr9:127651640..127651641 [GRCh38]
Chr9:130413919..130413920 [GRCh37]
Chr9:9q34.11
not provided
NM_001032221.4(STXBP1):c.635A>G (p.Tyr212Cys) single nucleotide variant not specified [RCV000500673] Chr9:127665303 [GRCh38]
Chr9:130427582 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1681G>A (p.Gly561Arg) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001066803]|not provided [RCV000498493] Chr9:127682539 [GRCh38]
Chr9:130444818 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1754C>A (p.Pro585His) single nucleotide variant not provided [RCV000498557] Chr9:127684419 [GRCh38]
Chr9:130446698 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1631G>T (p.Gly544Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000791831]|not provided [RCV000494083] Chr9:127682489 [GRCh38]
Chr9:130444768 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.872T>C (p.Leu291Pro) single nucleotide variant not provided [RCV000494104] Chr9:127668157 [GRCh38]
Chr9:130430436 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1708A>G (p.Thr570Ala) single nucleotide variant not provided [RCV000493328] Chr9:127684373 [GRCh38]
Chr9:130446652 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1110G>A (p.Gln370=) single nucleotide variant Inborn genetic diseases [RCV000623191] Chr9:127673261 [GRCh38]
Chr9:130435540 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1597del (p.Ser533fs) deletion Infantile epilepsy syndrome [RCV001265341]|not provided [RCV000521811] Chr9:127682455 [GRCh38]
Chr9:130444734 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.683C>T (p.Ser228Phe) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636447] Chr9:127666185 [GRCh38]
Chr9:130428464 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1359+2T>C single nucleotide variant Inborn genetic diseases [RCV000624411] Chr9:127676755 [GRCh38]
Chr9:130439034 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.247-9del deletion not specified [RCV000604715] Chr9:127660015 [GRCh38]
Chr9:130422294 [GRCh37]
Chr9:9q34.11
likely benign
NC_000009.12:g.(?_127678411)_(127690877_?)del deletion Infantile epileptic dyskinetic encephalopathy [RCV000535848] Chr9:127678411..127690877 [GRCh38]
Chr9:130440690..130453156 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.956del (p.Gly319fs) deletion Inborn genetic diseases [RCV000623894] Chr9:127669950 [GRCh38]
Chr9:130432229 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.733C>G (p.His245Asp) single nucleotide variant Microcephaly [RCV000626840] Chr9:127666235 [GRCh38]
Chr9:130428514 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1349T>C (p.Ile450Thr) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636292] Chr9:127676743 [GRCh38]
Chr9:130439022 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1593C>A (p.Tyr531Ter) single nucleotide variant Inborn genetic diseases [RCV000624344] Chr9:127682451 [GRCh38]
Chr9:130444730 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1631del (p.Gly544fs) deletion Inborn genetic diseases [RCV000624802] Chr9:127682485 [GRCh38]
Chr9:130444764 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.247-16dup duplication not specified [RCV000602311] Chr9:127660009..127660010 [GRCh38]
Chr9:130422288..130422289 [GRCh37]
Chr9:9q34.11
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_003165.4(STXBP1):c.360del (p.Lys120fs) deletion Global developmental delay [RCV000626841] Chr9:127661133 [GRCh38]
Chr9:130423412 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.547C>T (p.Leu183=) single nucleotide variant not provided [RCV000871486]|not specified [RCV000615181] Chr9:127663322 [GRCh38]
Chr9:130425601 [GRCh37]
Chr9:9q34.11
likely benign
NM_001032221.4(STXBP1):c.1763C>T (p.Thr588Ile) single nucleotide variant Inborn genetic diseases [RCV000624232] Chr9:127690835 [GRCh38]
Chr9:130453114 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000626112]|Infantile epileptic dyskinetic encephalopathy [RCV001045780] Chr9:127684421 [GRCh38]
Chr9:130446700 [GRCh37]
Chr9:9q34.11
pathogenic|uncertain significance
NM_003165.4(STXBP1):c.298del (p.Arg100fs) deletion Inborn genetic diseases [RCV000624809]|Infantile epilepsy syndrome [RCV001265343] Chr9:127660080 [GRCh38]
Chr9:130422359 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.38-14_38-13del deletion not specified [RCV000615342] Chr9:127651588..127651589 [GRCh38]
Chr9:130413867..130413868 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1017A>G (p.Lys339=) single nucleotide variant not specified [RCV000616018] Chr9:127672104 [GRCh38]
Chr9:130434383 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1539C>T (p.Thr513=) single nucleotide variant not specified [RCV000616096] Chr9:127680234 [GRCh38]
Chr9:130442513 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.25G>A (p.Val9Ile) single nucleotide variant not provided [RCV000560381] Chr9:127612428 [GRCh38]
Chr9:130374707 [GRCh37]
Chr9:9q34.11
benign|uncertain significance
NM_003165.4(STXBP1):c.419A>G (p.Tyr140Cys) single nucleotide variant not specified [RCV000610309] Chr9:127661195 [GRCh38]
Chr9:130423474 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.578+11G>T single nucleotide variant not specified [RCV000616706] Chr9:127663364 [GRCh38]
Chr9:130425643 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.144A>C (p.Thr48=) single nucleotide variant not specified [RCV000616990] Chr9:127653771 [GRCh38]
Chr9:130416050 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.-34G>T single nucleotide variant not specified [RCV000608492] Chr9:127612370 [GRCh38]
Chr9:130374649 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.798T>C (p.Tyr266=) single nucleotide variant not provided [RCV000936340]|not specified [RCV000611180] Chr9:127668083 [GRCh38]
Chr9:130430362 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.664-13T>C single nucleotide variant not specified [RCV000611186] Chr9:127666153 [GRCh38]
Chr9:130428432 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.963G>C (p.Lys321Asn) single nucleotide variant Inborn genetic diseases [RCV000623477] Chr9:127669958 [GRCh38]
Chr9:130432237 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.417G>A (p.Pro139=) single nucleotide variant not specified [RCV000606535] Chr9:127661193 [GRCh38]
Chr9:130423472 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1504A>G (p.Ile502Val) single nucleotide variant not specified [RCV000614357] Chr9:127680199 [GRCh38]
Chr9:130442478 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.660G>A (p.Gly220=) single nucleotide variant not specified [RCV000611607] Chr9:127665328 [GRCh38]
Chr9:130427607 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.267T>C (p.Ser89=) single nucleotide variant not specified [RCV000611929] Chr9:127660050 [GRCh38]
Chr9:130422329 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.246+12A>G single nucleotide variant not specified [RCV000614660] Chr9:127658463 [GRCh38]
Chr9:130420742 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1549G>A (p.Ala517Thr) single nucleotide variant not specified [RCV000604912] Chr9:127682407 [GRCh38]
Chr9:130444686 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.169+14C>T single nucleotide variant not specified [RCV000612038] Chr9:127653810 [GRCh38]
Chr9:130416089 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1462-12T>C single nucleotide variant not specified [RCV000601724] Chr9:127680145 [GRCh38]
Chr9:130442424 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.73A>C (p.Lys25Gln) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636299] Chr9:127651638 [GRCh38]
Chr9:130413917 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.628G>A (p.Asp210Asn) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636330] Chr9:127665296 [GRCh38]
Chr9:130427575 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1683A>G (p.Gly561=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636503] Chr9:127682541 [GRCh38]
Chr9:130444820 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1632T>C (p.Gly544=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636505] Chr9:127682490 [GRCh38]
Chr9:130444769 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.240C>T (p.Ser80=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000636555] Chr9:127658445 [GRCh38]
Chr9:130420724 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1606C>A (p.Arg536Ser) single nucleotide variant not provided [RCV000512995] Chr9:127682464 [GRCh38]
Chr9:130444743 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001032221.6(STXBP1):c.325+2_325+3del microsatellite Early infantile epileptic encephalopathy 4 [RCV000590900] Chr9:127660108..127660109 [GRCh38]
Chr9:130422389..130422390 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.168G>A (p.Thr56=) single nucleotide variant not specified [RCV000600497] Chr9:127653795 [GRCh38]
Chr9:130416074 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.313T>C (p.Phe105Leu) single nucleotide variant not provided [RCV000513322] Chr9:127660096 [GRCh38]
Chr9:130422375 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1250-19G>C single nucleotide variant not specified [RCV000606279] Chr9:127676625 [GRCh38]
Chr9:130438904 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.664-1G>A single nucleotide variant not provided [RCV000513540] Chr9:127666165 [GRCh38]
Chr9:130428444 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.1077A>G (p.Gln359=) single nucleotide variant not specified [RCV000601134] Chr9:127673228 [GRCh38]
Chr9:130435507 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1480C>T (p.Leu494Phe) single nucleotide variant Inborn genetic diseases [RCV000623946] Chr9:127680175 [GRCh38]
Chr9:130442454 [GRCh37]
Chr9:9q34.11
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_003165.4(STXBP1):c.902+4A>G single nucleotide variant Infantile epilepsy syndrome [RCV001265149]|not provided [RCV000658438] Chr9:127668191 [GRCh38]
Chr9:130430470 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_003165.4(STXBP1):c.218C>A (p.Ala73Asp) single nucleotide variant not provided [RCV000658186] Chr9:127658423 [GRCh38]
Chr9:130420702 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000680110] Chr9:127663308 [GRCh38]
Chr9:130425587 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.578+1G>A single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000680111] Chr9:127663354 [GRCh38]
Chr9:130425633 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000680112] Chr9:127651644 [GRCh38]
Chr9:130413923 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.863G>T (p.Trp288Leu) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000686678] Chr9:127668148 [GRCh38]
Chr9:130430427 [GRCh37]
Chr9:9q34.11
uncertain significance
GRCh37/hg19 9q34.11(chr9:130323808-130428471)x3 copy number gain not provided [RCV000683075] Chr9:130323808..130428471 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.692dup (p.Ile232fs) duplication Early infantile epileptic encephalopathy 4 [RCV000678382] Chr9:127666193..127666194 [GRCh38]
Chr9:130428472..130428473 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.607C>T (p.Gln203Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000687594] Chr9:127665275 [GRCh38]
Chr9:130427554 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1325A>G (p.Asn442Ser) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000702973] Chr9:127676719 [GRCh38]
Chr9:130438998 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.193A>G (p.Arg65Gly) single nucleotide variant not provided [RCV000713554] Chr9:127658398 [GRCh38]
Chr9:130420677 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.29_31del (p.Val10del) deletion Infantile epileptic dyskinetic encephalopathy [RCV000692679] Chr9:127612431..127612433 [GRCh38]
Chr9:130374710..130374712 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.817G>T (p.Glu273Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000694876] Chr9:127668102 [GRCh38]
Chr9:130430381 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1652G>A (p.Arg551His) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV001270414]|Infantile epileptic dyskinetic encephalopathy [RCV000686294] Chr9:127682510 [GRCh38]
Chr9:130444789 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|uncertain significance
NM_003165.4(STXBP1):c.429+3G>A single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000702916] Chr9:127661208 [GRCh38]
Chr9:130423487 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.22_32dup (p.Glu12fs) duplication Infantile epileptic dyskinetic encephalopathy [RCV000693775] Chr9:127612424..127612425 [GRCh38]
Chr9:130374703..130374704 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.345del (p.Phe115fs) deletion Infantile epileptic dyskinetic encephalopathy [RCV000703111] Chr9:127661119 [GRCh38]
Chr9:130423398 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.259C>G (p.Leu87Val) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000705274] Chr9:127660042 [GRCh38]
Chr9:130422321 [GRCh37]
Chr9:9q34.11
uncertain significance
NC_000009.12:g.(?_127669878)_(127669978_?)del deletion Infantile epileptic dyskinetic encephalopathy [RCV000708108] Chr9:127669878..127669978 [GRCh38]
Chr9:130432157..130432257 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.1364C>T (p.Thr455Met) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000694421] Chr9:127678435 [GRCh38]
Chr9:130440714 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV001003469] Chr9:127678498 [GRCh38]
Chr9:130440777 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.948G>A (p.Met316Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000718292] Chr9:127669943 [GRCh38]
Chr9:130432222 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.207C>T (p.Pro69=) single nucleotide variant History of neurodevelopmental disorder [RCV000719434] Chr9:127658412 [GRCh38]
Chr9:130420691 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.257C>G (p.Ser86Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000719809] Chr9:127660040 [GRCh38]
Chr9:130422319 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000721133] Chr9:127682415 [GRCh38]
Chr9:130444694 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV001004708] Chr9:127653749 [GRCh38]
Chr9:130416028 [GRCh37]
Chr9:9q34.11
likely 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
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11
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 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
NM_001032221.6(STXBP1):c.975G>A (p.Arg325=) single nucleotide variant not provided [RCV000919545] Chr9:127672062 [GRCh38]
Chr9:130434341 [GRCh37]
Chr9:9q34.11
likely benign
NM_003165.4(STXBP1):c.1427C>G (p.Ser476Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV001249693]|not provided [RCV000760854] Chr9:127678498 [GRCh38]
Chr9:130440777 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.1492dup (p.His498fs) duplication Early infantile epileptic encephalopathy 4 [RCV000760209] Chr9:127680186..127680187 [GRCh38]
Chr9:130442465..130442466 [GRCh37]
Chr9:9q34.11
pathogenic
NM_003165.4(STXBP1):c.586A>T (p.Lys196Ter) single nucleotide variant not provided [RCV000760663] Chr9:127665254 [GRCh38]
Chr9:130427533 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.1249+1G>A single nucleotide variant Epileptic encephalopathy [RCV001003594] Chr9:127675943 [GRCh38]
Chr9:130438222 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.579-1G>A single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000988253] Chr9:127665246 [GRCh38]
Chr9:130427525 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) deletion Early infantile epileptic encephalopathy 4 [RCV000988255] Chr9:127675929 [GRCh38]
Chr9:130438208 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs) insertion not provided [RCV001090606] Chr9:127666205..127666206 [GRCh38]
Chr9:130428484..130428485 [GRCh37]
Chr9:9q34.11
pathogenic
NC_000009.12:g.(?_127651583)_(127653816_?)del deletion Infantile epileptic dyskinetic encephalopathy [RCV001031051] Chr9:130413862..130416095 [GRCh37]
Chr9:9q34.11
pathogenic
NC_000009.12:g.(?_127672031)_(127676773_?)del deletion Infantile epileptic dyskinetic encephalopathy [RCV001031655] Chr9:130434310..130439052 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_001032221.6(STXBP1):c.222G>A (p.Val74=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000867629] Chr9:127658427 [GRCh38]
Chr9:130420706 [GRCh37]
Chr9:9q34.11
likely benign
NM_001032221.6(STXBP1):c.1350C>T (p.Ile450=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000870397] Chr9:127676744 [GRCh38]
Chr9:130439023 [GRCh37]
Chr9:9q34.11
likely benign
NM_001032221.6(STXBP1):c.33A>G (p.Gly11=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000983747] Chr9:127612436 [GRCh38]
Chr9:130374715 [GRCh37]
Chr9:9q34.11
likely benign
NM_001032221.6(STXBP1):c.852C>T (p.Asp284=) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV000983751] Chr9:127668137 [GRCh38]
Chr9:130430416 [GRCh37]
Chr9:9q34.11
likely benign
NM_001032221.6(STXBP1):c.65_76del (p.Val22_Lys25del) deletion Infantile epileptic dyskinetic encephalopathy [RCV001062406] Chr9:127651623..127651634 [GRCh38]
Chr9:130413902..130413913 [GRCh37]
Chr9:9q34.11
uncertain significance
NC_000009.12:g.(?_127612384)_(127612460_?)del deletion Infantile epileptic dyskinetic encephalopathy [RCV001033384] Chr9:130374663..130374739 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001061997] Chr9:127663349 [GRCh38]
Chr9:130425628 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) single nucleotide variant Early infantile epileptic encephalopathy 4 [RCV000995656] Chr9:127676655 [GRCh38]
Chr9:130438934 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.157G>T (p.Glu53Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001038009] Chr9:127653784 [GRCh38]
Chr9:130416063 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001032221.6(STXBP1):c.1258G>T (p.Glu420Ter) single nucleotide variant Infantile epileptic dyskinetic encephalopathy [RCV001052731]