STXBP1 (syntaxin binding protein 1)

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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 ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Stxbp1 (syntaxin binding protein 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Stxbp1 (syntaxin binding protein 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Stxbp1 (syntaxin binding protein 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	STXBP1 (syntaxin binding protein 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	STXBP1 (syntaxin binding protein 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Stxbp1 (syntaxin binding protein 1)	NCBI	Ortholog
Sus scrofa (pig):	STXBP1 (syntaxin binding protein 1)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	STXBP1 (syntaxin binding protein 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Stxbp1 (syntaxin binding protein 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Stxbp2 (syntaxin binding protein 2)	HGNC	OrthoMCL
Canis lupus familiaris (dog):	STXBP2 (syntaxin binding protein 2)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Stxbp1 (syntaxin binding protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Stxbp1 (syntaxin binding protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	stxbp1a (syntaxin binding protein 1a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam\|ZFIN)
Danio rerio (zebrafish):	stxbp1b (syntaxin binding protein 1b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|PANTHER\|Roundup\|TreeFam\|ZFIN)
Drosophila melanogaster (fruit fly):	Rop	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Saccharomyces cerevisiae (baker's yeast):	SEC1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Caenorhabditis elegans (roundworm):	unc-18	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	9	127,579,370 - 127,696,027 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	9	127,611,912 - 127,696,029 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	9	130,374,191 - 130,458,308 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	9	130,374,486 - 130,454,995 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	129,414,390 - 129,494,816 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	9	127,454,121 - 127,534,549	NCBI
Celera	9	101,025,378 - 101,105,881 (+)	NCBI
Cytogenetic Map	9	q34.11	NCBI
HuRef	9	99,990,647 - 100,071,101 (+)	NCBI		HuRef
CHM1_1	9	130,525,679 - 130,606,190 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

Bardet-Biedl syndrome 1 (ISO)

Bardet-Biedl syndrome 17 (ISO)

cerebellar hypoplasia (IAGP)

childhood onset epileptic encephalopathy (IAGP)

congenital disorder of glycosylation Iu (IAGP)

developmental and epileptic encephalopathy (IAGP)

developmental and epileptic encephalopathy 1 (IAGP)

developmental and epileptic encephalopathy 4 (IAGP)

Developmental Disabilities (IAGP)

Duchenne muscular dystrophy (ISO)

early infantile epileptic encephalopathy (IAGP)

epilepsy (EXP,IAGP)

Generalized Epilepsy (IAGP)

genetic disease (IAGP)

intellectual disability (IAGP)

microcephaly (IAGP)

Muscle Spasticity (IAGP)

Myoclonic Epilepsies (EXP)

Neurodevelopmental Disorders (EXP)

non-syndromic intellectual disability (IAGP)

prostate cancer (IAGP)

salt and pepper syndrome (IAGP)

visual epilepsy (IAGP)

West syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,3-dinitrobenzene (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-ethoxyethanol (ISO)

2-methoxyethanol (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acetohydrazide (ISO)

acetylsalicylic acid (ISO)

aflatoxin B2 (EXP)

ammonium chloride (ISO)

androgen antagonist (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

benzo[e]pyrene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

Brodifacoum (ISO)

Butylparaben (ISO)

butyric acid (ISO)

clozapine (ISO)

cobalt dichloride (EXP)

cocaine (ISO)

DDE (ISO)

decabromodiphenyl ether (ISO)

dibutyl phthalate (ISO)

dioxygen (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

enzacamene (ISO)

epoxiconazole (ISO)

ethanol (ISO)

fluoxetine (ISO)

formaldehyde (ISO)

furan (ISO)

gamma-tocopherol (ISO)

genistein (EXP,ISO)

gentamycin (ISO)

glycine betaine (ISO)

heroin (EXP)

lead(0) (EXP)

lead(2+) (EXP)

linuron (ISO)

methapyrilene (EXP)

methoxychlor (ISO)

methylmercury chloride (EXP)

orphenadrine (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

pentachlorophenol (ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

potassium dichromate (EXP)

prochloraz (ISO)

procymidone (ISO)

SB 431542 (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenite (ISO)

sunitinib (EXP)

tetrahydropalmatine (EXP)

thioacetamide (ISO)

tocopherol (ISO)

trichostatin A (EXP,ISO)

valproic acid (EXP)

vinclozolin (ISO)

vorinostat (EXP)

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

axon (IEA,ISO)

cytoplasm (ISO,ISS)

cytoskeleton (IEA,ISO)

cytosol (IDA,TAS)

extracellular exosome (HDA)

glutamatergic synapse (IEA,ISO)

mitochondrion (ISS)

nucleoplasm (IDA)

nucleus (ISO)

perinuclear region of cytoplasm (IEA,ISO)

phagocytic vesicle (IEA,ISO)

plasma membrane (IBA,IDA,ISO,ISS)

platelet alpha granule (IDA)

postsynapse (IEA,ISO)

presynapse (ISO)

presynaptic active zone membrane (IEA,ISO)

protein-containing complex (ISO,ISS)

secretory granule (IBA)

Molecular Function

identical protein binding (ISO,ISS)

phospholipase binding (IEA,ISO)

protein binding (IPI,ISO)

protein domain specific binding (IEA,ISO)

protein kinase binding (IEA,ISO)

protein N-terminus binding (IEA,ISO)

RNA binding (HDA)

SNARE binding (ISO,ISS)

syntaxin binding (IBA,IPI,ISO)

syntaxin-1 binding (IBA,IPI,ISO,ISS)

Molecular Pathway Annotations Click to see Annotation Detail View

insulin secretion pathway (ISO)

synaptic vesicle exocytosis - neurotransmitter release pathway (ISO)

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

References - curated


1.	Datta P, etal., Proc Natl Acad Sci U S A. 2015 Aug 11;112(32):E4400-9. doi: 10.1073/pnas.1510111112. Epub 2015 Jul 27.
2.	Deprez L, etal., Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.
3.	Murphy S, etal., Clin Proteomics. 2015 Nov 23;12:27. doi: 10.1186/s12014-015-9099-0. eCollection 2015.
4.	OMIM Disease Annotation Pipeline
5.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	RGD automated import pipeline for gene-chemical interactions
7.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8.	Saitsu H, etal., Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11.
9.	Wang Z and Thurmond DC, J Cell Sci. 2009 Apr 1;122(Pt 7):893-903.
10.	Weckhuysen S, etal., Epilepsia. 2013 May;54(5):e74-80. doi: 10.1111/epi.12124. Epub 2013 Feb 14.

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	9	127,579,370 - 127,696,027 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	9	127,611,912 - 127,696,029 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	9	130,374,191 - 130,458,308 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	9	130,374,486 - 130,454,995 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	129,414,390 - 129,494,816 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	9	127,454,121 - 127,534,549	NCBI
Celera	9	101,025,378 - 101,105,881 (+)	NCBI
Cytogenetic Map	9	q34.11	NCBI
HuRef	9	99,990,647 - 100,071,101 (+)	NCBI		HuRef
CHM1_1	9	130,525,679 - 130,606,190 (+)	NCBI		CHM1_1

Stxbp1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	32,677,619 - 32,737,249 (-)	NCBI	GRCm39		mm39
GRCm38	2	32,787,607 - 32,847,237 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	32,787,602 - 32,847,245 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	32,643,127 - 32,702,757 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	2	32,609,971 - 32,669,135 (-)	NCBI			mm8
Celera	2	32,494,462 - 32,554,183 (-)	NCBI		Celera
Cytogenetic Map	2	B	NCBI
cM Map	2	22.09	NCBI

Stxbp1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	3	16,076,725 - 16,138,431 (-)	NCBI
Rnor_6.0 Ensembl	3	11,823,785 - 11,885,417 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	3	11,823,779 - 11,885,479 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	3	17,160,752 - 17,221,893 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	11,762,105 - 11,825,531 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	3	11,658,476 - 11,721,903 (-)	NCBI
Celera	3	10,816,317 - 10,877,576 (-)	NCBI		Celera
RH 3.4 Map	3	79.6	RGD
Cytogenetic Map	3	p11	NCBI

Stxbp1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955419	963,829 - 1,000,759 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955419	963,829 - 1,000,759 (-)	NCBI	ChiLan1.0	ChiLan1.0

STXBP1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	9	127,434,080 - 127,483,971 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	127,434,080 - 127,486,152 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	9	98,731,527 - 98,811,608 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

STXBP1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	9	55,678,264 - 55,727,680 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	9	55,690,939 - 55,768,008 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Stxbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936487	15,300,758 - 15,367,475 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

STXBP1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	268,116,118 - 268,213,921 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	268,116,124 - 268,205,805 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	302,023,293 - 302,098,188 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

STXBP1
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	12	10,440,061 - 10,519,798 (-)	NCBI
ChlSab1.1 Ensembl	12	10,439,801 - 10,519,777 (-)	Ensembl

Stxbp1
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624760	7,843,741 - 7,914,444 (-)	NCBI

Position Markers

WI-17094

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	130,454,365 - 130,454,497	UniSTS	GRCh37
Build 36	9	129,494,186 - 129,494,318	RGD	NCBI36
Celera	9	101,105,251 - 101,105,383	RGD
Cytogenetic Map	9	q34.1	UniSTS
HuRef	9	100,070,471 - 100,070,603	UniSTS
GeneMap99-GB4 RH Map	9	388.74	UniSTS
Whitehead-RH Map	9	469.7	UniSTS

D9S1763

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	130,454,766 - 130,454,857	UniSTS	GRCh37
Build 36	9	129,494,587 - 129,494,678	RGD	NCBI36
Celera	9	101,105,652 - 101,105,743	RGD
Cytogenetic Map	9	q34.1	UniSTS
HuRef	9	100,070,872 - 100,070,963	UniSTS

STXBP1_858.2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	130,454,230 - 130,454,964	UniSTS	GRCh37
Build 36	9	129,494,051 - 129,494,785	RGD	NCBI36
Celera	9	101,105,116 - 101,105,850	RGD
HuRef	9	100,070,336 - 100,071,070	UniSTS

1986

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	130,453,209 - 130,453,293	UniSTS	GRCh37
Build 36	9	129,493,030 - 129,493,114	RGD	NCBI36
Celera	9	101,104,095 - 101,104,179	RGD
Cytogenetic Map	9	q34.1	UniSTS
HuRef	9	100,069,315 - 100,069,399	UniSTS
GeneMap99-GB4 RH Map	9	385.71	UniSTS

D9S1144

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	130,454,765 - 130,454,977	UniSTS	GRCh37
Build 36	9	129,494,586 - 129,494,798	RGD	NCBI36
Celera	9	101,105,651 - 101,105,863	RGD
Cytogenetic Map	9	q34.1	UniSTS
HuRef	9	100,070,871 - 100,071,083	UniSTS
GeneMap99-GB4 RH Map	9	388.22	UniSTS
Whitehead-RH Map	9	464.3	UniSTS

D9S1028E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	130,454,565 - 130,454,656	UniSTS	GRCh37
Build 36	9	129,494,386 - 129,494,477	RGD	NCBI36
Celera	9	101,105,451 - 101,105,542	RGD
Cytogenetic Map	9	q34.1	UniSTS
HuRef	9	100,070,671 - 100,070,762	UniSTS
GeneMap99-GB4 RH Map	9	385.61	UniSTS

WI-4184

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	130,393,541 - 130,393,803	UniSTS	GRCh37
Build 36	9	129,433,362 - 129,433,624	RGD	NCBI36
Celera	9	101,044,433 - 101,044,695	RGD
Cytogenetic Map	9	q34.1	UniSTS
HuRef	9	100,009,651 - 100,009,913	UniSTS
Whitehead-RH Map	9	473.0	UniSTS

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

229

2748

903

3508

217

1148

1561

1198

1576

Low

766

960

464

562

929

413

1608

1290

222

199

302

155

1212

Below cutoff

545

783

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,277 - 127,692,699 (+)	Ensembl

RefSeq Acc Id:

ENST00000373302 ⟹ ENSP00000362399

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,207 - 127,692,716 (+)	Ensembl

RefSeq Acc Id:

ENST00000476182 ⟹ ENSP00000490199

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,361 - 127,613,751 (+)	Ensembl

RefSeq Acc Id:

ENST00000494254 ⟹ ENSP00000485397

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,678,524 - 127,684,680 (+)	Ensembl

RefSeq Acc Id:

ENST00000496504 ⟹ ENSP00000485361

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,661,133 - 127,663,722 (+)	Ensembl

RefSeq Acc Id:

ENST00000625363 ⟹ ENSP00000486944

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,611,760 - 127,663,265 (+)	Ensembl

RefSeq Acc Id:

ENST00000626333 ⟹ ENSP00000486814

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,642,343 - 127,663,258 (+)	Ensembl

RefSeq Acc Id:

ENST00000626416

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,661,459 - 127,692,936 (+)	Ensembl

RefSeq Acc Id:

ENST00000626539 ⟹ ENSP00000487211

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,611,834 - 127,692,735 (+)	Ensembl

RefSeq Acc Id:

ENST00000627871 ⟹ ENSP00000485895

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,277 - 127,661,189 (+)	Ensembl

RefSeq Acc Id:

ENST00000628638

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,679,785 - 127,691,061 (+)	Ensembl

RefSeq Acc Id:

ENST00000628768

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,690,134 - 127,692,715 (+)	Ensembl

RefSeq Acc Id:

ENST00000630492 ⟹ ENSP00000485680

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,277 - 127,661,126 (+)	Ensembl

RefSeq Acc Id:

ENST00000635950 ⟹ ENSP00000490903

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,222 - 127,696,027 (+)	Ensembl

RefSeq Acc Id:

ENST00000636509 ⟹ ENSP00000490810

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,611,805 - 127,692,680 (+)	Ensembl

RefSeq Acc Id:

ENST00000636962 ⟹ ENSP00000489762

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,222 - 127,696,027 (+)	Ensembl

RefSeq Acc Id:

ENST00000637060 ⟹ ENSP00000490674

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,265 - 127,692,735 (+)	Ensembl

RefSeq Acc Id:

ENST00000637173 ⟹ ENSP00000490519

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,265 - 127,692,936 (+)	Ensembl

RefSeq Acc Id:

ENST00000637464 ⟹ ENSP00000489655

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,248 - 127,692,735 (+)	Ensembl

RefSeq Acc Id:

ENST00000637521 ⟹ ENSP00000489791

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,579,370 - 127,690,886 (+)	Ensembl

RefSeq Acc Id:

ENST00000637953 ⟹ ENSP00000490613

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,222 - 127,692,735 (+)	Ensembl

RefSeq Acc Id:

ENST00000647107 ⟹ ENSP00000494727

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,651,624 - 127,684,513 (+)	Ensembl

RefSeq Acc Id:

ENST00000650920 ⟹ ENSP00000498834

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	9	127,612,360 - 127,692,747 (+)	Ensembl

RefSeq Acc Id:

NM_001032221 ⟹ NP_001027392

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI
GRCh37	9	130,374,486 - 130,454,995 (+)	ENTREZGENE
Build 36	9	129,414,390 - 129,494,816 (+)	NCBI Archive
HuRef	9	99,990,647 - 100,071,101 (+)	ENTREZGENE
CHM1_1	9	130,525,679 - 130,606,190 (+)	NCBI

Sequence:

show sequence

CCCGCGCGCGCCGGCGGCGGGGCAGCCTCGCTCTGGCTCGCGCCGCGCCCCCGCGCCCAGTCCG
CGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACC
TGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCA
GCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAAGATTATGCATGATGTGATAAA
GAAGGTCAAGAAGAAGGGGGAATGGAAGGTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCTG
TCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGATTGTGGAAGATATCAATA
AGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGTCCGT
CCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTC
TTCACTGACTCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCA
TCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTCTATTCCTTGGA
CTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTG
GAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGT
ATCGGGGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTA
TAAAGCTGATGATCCAACAATGGGGGAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTG
GATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATG
ATCTGCTGCCTATCGAAAATGATGTATACAAGTATGAGACCAGCGGCATCGGGGAGGCACGGGT
GAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCA
GAGGTGTCCCAGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTG
GAGAGAAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGA
GCTCAGCAAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACC
GTAGACAAACTCTGCCGAGTGGAGCAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGA
TCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAA
AATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGCATCACGGAGGAAAACCTGAACAAA
CTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCG
GCGTGCCCATCGTCACCGATTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCAT
CAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGACACT
ATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCA
GCACCACCGCCGTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCG
CAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCC
TACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGATCCACACACATCCTCACCC
CACAGAAACTGCTGGACACACTGAAGAAACTGAATAAAACAGATGAAGAAATAAGCAGTTAAAA
AAATAAGTCGCCCCTCCAAAACACGCCCCCATCCCACAGCGCTCCGCAGCTTCCCACCACCGCC
CGCCTCAGTTCCTTTGCGTCTGTTGCCTCCCCAGCCCTGCACGCCCTGGCTGGCACTGTTGCCG
CTGCATTCTCGTGTTCAGTGATGCCCTCTTCTTGTTTGAAACAAAAGAAAATAATGCATTGTGT
TTTTTAAAAAGAGTATCTTATACATGTATCCTAAAAAGAGAAGCTCATGTGCAATTGGTGCACA
GCAGGAGAAATTTCTGGACTGTTAGGATGAATGGACGCCTTCTCCCCGTTATTTAAGATTTGTG
ACCTTGTACATAACCCTGGGTGACGTGCACATTGCTTGGGTATGGAACGGTAGAAATTTGGGTG
TTTTTAAAACCTTGTTTGGGGTTGTTCCTGTCCTTGTTGAGAATCATAGAGATGTCTGTGTTCT
TGGAGTATTTCACACTGAGGACTAATCTGCTATCTTCATTCCAGTCCCTACCCCTCAGTGCCTG
CTCTCATCCAAATAACCTGGGAGGTGACAATCAGGATATCTCAGGAGGTCCAAGGTGGAACAGA
CCTCTTTGCCTTTCCCAGCGTCTCATACCCCCGGTAGTGCAGCTGTGGGTGGAGGCTGGGGTGT
CTGCACGAAGTCAGGCCAGCGTCCTCCTCCACAGCCTGTCACTGCCCCCTCCCCAGCCTGTGTC
CACAGTGCTGTGATCCCGAGGGAAGTCCTCCAGTCTAAGTCACAGTGCCCTGACAGGTGAGAAG
CAAACTCCCGCTGGAAGCCTCCATCTCTTTGGAAAAACAGTTAGTCTGGAGCCTGTGGCCCAGG
CCCTTCTGTCCCCAGGCATCATCCCAACAGCTCATTTTCCCTAGTCCGCCTTCGTTCAAGGGTC
AGGAATGGACCAGAACAGATGGGTTCTGGAGGCCCCTGAACAGAGGGCTATGGCTGTGGAGAAG
GTTCTTGGCCCGTTGGACTCACACAGACCCTGTACCCTCTCGGCAAGCATCTTCAGTCAGATTA
TCCTCAGTTTCAGATACTTCATAATACCTTGTGTTGTGTGGGGTCATACATCATCGTGTTTGTA
AGAGAAGATGGTCATTTTATTCTCTGTATAAAACTTAGCTCTAAAGCAGAAACTAAAGCAGCAA
ATGCAGGAAGGCTGTCTCGCCATCCTCAAGACTCAGCAGCTCTCATTCTCCAGTGGTGAGCACA
CCATTTGTGCTGCTGCTGTTGTCGTGAAATATAATAACAGTGGAAGTCACAAAAATGTCCCCTG
CCCAGCCCCCTCGCCGCCCTTGACCTCCTGCAGGCCATGTGTGTATTACTTGTCTAGTGATGTC
CTCTCAAAGTGCTGTACGCGAGCTCGGCGCCACCTCCGCCTCCCTTTCAGAGCCTGCTCCCCGC
CCTCTCTGCTCGCTGCATTGTGGTGTTCTCTTCTCAAGGCTTTGAAATCTCCCCTTGCACTGAG
ATTAGTCGTCAGATCTCTCCCCGTCTCCCTCCCAACTTATACGACCTGATTTCCTTAGGACGGA
ACCGCAGGCACCTGCGCCGGGCGTCTTACTCCCGCTGCTTGTTCTGTCCCCTCCCTCGGACCAA
ACAGTGCTCATGCTTCAGGACCTTGTTTGTCGAAGATGTTGGTTTCCCTTTCTCTGTTATTTAT
ATAAAAATAATTTATCAAAAGGATATTTTAAAAAAGCTAGTCTGTCTTGAAACTTGTTTACCTT
AAAATTATCAGAATCTCAGTGTTTGAAAGTACTGAAGCACAAACATATATCATCTCTGTACCAT
TCTGTACTAAAGCACTTGAGTCTAATAAATAAAGAAATCAGCACCCCTTCCCGGTGTCCAGGGG
GAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001374306 ⟹ NP_001361235

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_001374307 ⟹ NP_001361236

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_001374308 ⟹ NP_001361237

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_001374309 ⟹ NP_001361238

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,611,912 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_001374310 ⟹ NP_001361239

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_001374311 ⟹ NP_001361240

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_001374312 ⟹ NP_001361241

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_001374313 ⟹ NP_001361242

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_001374314 ⟹ NP_001361243

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,696,029 (+)	NCBI

RefSeq Acc Id:

NM_001374315 ⟹ NP_001361244

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI

RefSeq Acc Id:

NM_003165 ⟹ NP_003156

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,692,699 (+)	NCBI
GRCh37	9	130,374,486 - 130,454,995 (+)	NCBI
Build 36	9	129,414,390 - 129,494,816 (+)	NCBI Archive
HuRef	9	99,990,647 - 100,071,101 (+)	ENTREZGENE
CHM1_1	9	130,525,679 - 130,606,190 (+)	NCBI

Sequence:

show sequence

CCCGCGCGCGCCGGCGGCGGGGCAGCCTCGCTCTGGCTCGCGCCGCGCCCCCGCGCCCAGTCCG
CGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACC
TGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCA
GCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAAGATTATGCATGATGTGATAAA
GAAGGTCAAGAAGAAGGGGGAATGGAAGGTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCTG
TCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGATTGTGGAAGATATCAATA
AGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGTCCGT
CCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTC
TTCACTGACTCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCA
TCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTCTATTCCTTGGA
CTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTG
GAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGT
ATCGGGGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTA
TAAAGCTGATGATCCAACAATGGGGGAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTG
GATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATG
ATCTGCTGCCTATCGAAAATGATGTATACAAGTATGAGACCAGCGGCATCGGGGAGGCACGGGT
GAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCA
GAGGTGTCCCAGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTG
GAGAGAAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGA
GCTCAGCAAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACC
GTAGACAAACTCTGCCGAGTGGAGCAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGA
TCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAA
AATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGCATCACGGAGGAAAACCTGAACAAA
CTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCG
GCGTGCCCATCGTCACCGATTCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCAT
CAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGACACT
ATTGAGGACAAACTTGACACCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCA
GCACCACCGCCGTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCG
CAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCC
TACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTTCTACTCACATTCTTACTC
CCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGA
GGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGATCCACACACATCCTCACCCCA
CAGAAACTGCTGGACACACTGAAGAAACTGAATAAAACAGATGAAGAAATAAGCAGTTAAAAAA
ATAAGTCGCCCCTCCAAAACACGCCCCCATCCCACAGCGCTCCGCAGCTTCCCACCACCGCCCG
CCTCAGTTCCTTTGCGTCTGTTGCCTCCCCAGCCCTGCACGCCCTGGCTGGCACTGTTGCCGCT
GCATTCTCGTGTTCAGTGATGCCCTCTTCTTGTTTGAAACAAAAGAAAATAATGCATTGTGTTT
TTTAAAAAGAGTATCTTATACATGTATCCTAAAAAGAGAAGCTCATGTGCAATTGGTGCACAGC
AGGAGAAATTTCTGGACTGTTAGGATGAATGGACGCCTTCTCCCCGTTATTTAAGATTTGTGAC
CTTGTACATAACCCTGGGTGACGTGCACATTGCTTGGGTATGGAACGGTAGAAATTTGGGTGTT
TTTAAAACCTTGTTTGGGGTTGTTCCTGTCCTTGTTGAGAATCATAGAGATGTCTGTGTTCTTG
GAGTATTTCACACTGAGGACTAATCTGCTATCTTCATTCCAGTCCCTACCCCTCAGTGCCTGCT
CTCATCCAAATAACCTGGGAGGTGACAATCAGGATATCTCAGGAGGTCCAAGGTGGAACAGACC
TCTTTGCCTTTCCCAGCGTCTCATACCCCCGGTAGTGCAGCTGTGGGTGGAGGCTGGGGTGTCT
GCACGAAGTCAGGCCAGCGTCCTCCTCCACAGCCTGTCACTGCCCCCTCCCCAGCCTGTGTCCA
CAGTGCTGTGATCCCGAGGGAAGTCCTCCAGTCTAAGTCACAGTGCCCTGACAGGTGAGAAGCA
AACTCCCGCTGGAAGCCTCCATCTCTTTGGAAAAACAGTTAGTCTGGAGCCTGTGGCCCAGGCC
CTTCTGTCCCCAGGCATCATCCCAACAGCTCATTTTCCCTAGTCCGCCTTCGTTCAAGGGTCAG
GAATGGACCAGAACAGATGGGTTCTGGAGGCCCCTGAACAGAGGGCTATGGCTGTGGAGAAGGT
TCTTGGCCCGTTGGACTCACACAGACCCTGTACCCTCTCGGCAAGCATCTTCAGTCAGATTATC
CTCAGTTTCAGATACTTCATAATACCTTGTGTTGTGTGGGGTCATACATCATCGTGTTTGTAAG
AGAAGATGGTCATTTTATTCTCTGTATAAAACTTAGCTCTAAAGCAGAAACTAAAGCAGCAAAT
GCAGGAAGGCTGTCTCGCCATCCTCAAGACTCAGCAGCTCTCATTCTCCAGTGGTGAGCACACC
ATTTGTGCTGCTGCTGTTGTCGTGAAATATAATAACAGTGGAAGTCACAAAAATGTCCCCTGCC
CAGCCCCCTCGCCGCCCTTGACCTCCTGCAGGCCATGTGTGTATTACTTGTCTAGTGATGTCCT
CTCAAAGTGCTGTACGCGAGCTCGGCGCCACCTCCGCCTCCCTTTCAGAGCCTGCTCCCCGCCC
TCTCTGCTCGCTGCATTGTGGTGTTCTCTTCTCAAGGCTTTGAAATCTCCCCTTGCACTGAGAT
TAGTCGTCAGATCTCTCCCCGTCTCCCTCCCAACTTATACGACCTGATTTCCTTAGGACGGAAC
CGCAGGCACCTGCGCCGGGCGTCTTACTCCCGCTGCTTGTTCTGTCCCCTCCCTCGGACCAAAC
AGTGCTCATGCTTCAGGACCTTGTTTGTCGAAGATGTTGGTTTCCCTTTCTCTGTTATTTATAT
AAAAATAATTTATCAAAAGGATATTTTAAAAAAGCTAGTCTGTCTTGAAACTTGTTTACCTTAA
AATTATCAGAATCTCAGTGTTTGAAAGTACTGAAGCACAAACATATATCATCTCTGTACCATTC
TGTACTAAAGCACTTGAGTCTAATAAATAAAGAAATCAGCACCCCTTCCCGGTGTCCAGGGGGA
AAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001027392	(Get FASTA)	NCBI Sequence Viewer
	NP_001361235	(Get FASTA)	NCBI Sequence Viewer
	NP_001361236	(Get FASTA)	NCBI Sequence Viewer
	NP_001361237	(Get FASTA)	NCBI Sequence Viewer
	NP_001361238	(Get FASTA)	NCBI Sequence Viewer
	NP_001361239	(Get FASTA)	NCBI Sequence Viewer
	NP_001361240	(Get FASTA)	NCBI Sequence Viewer
	NP_001361241	(Get FASTA)	NCBI Sequence Viewer
	NP_001361242	(Get FASTA)	NCBI Sequence Viewer
	NP_001361243	(Get FASTA)	NCBI Sequence Viewer
	NP_001361244	(Get FASTA)	NCBI Sequence Viewer
	NP_003156	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC39688	(Get FASTA)	NCBI Sequence Viewer
	AAC39689	(Get FASTA)	NCBI Sequence Viewer
	AAH15749	(Get FASTA)	NCBI Sequence Viewer
	BAA19483	(Get FASTA)	NCBI Sequence Viewer
	BAD92417	(Get FASTA)	NCBI Sequence Viewer
	BAH11641	(Get FASTA)	NCBI Sequence Viewer
	BAH11993	(Get FASTA)	NCBI Sequence Viewer
	BAH12190	(Get FASTA)	NCBI Sequence Viewer
	CAA73255	(Get FASTA)	NCBI Sequence Viewer
	EAW87679	(Get FASTA)	NCBI Sequence Viewer
	EAW87681	(Get FASTA)	NCBI Sequence Viewer
	P61764	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_003156 ⟸ NM_003165
- Peptide Label:	isoform a
- UniProtKB:	P61764 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKR REPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIK TLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAEQIATLCATLKEYPAVRYR GEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPSSPVLHELTFQAMSYDL LPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGE KTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIK DPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITEENLNKLIQHAQIPPEDSEIITNMAHLGV PIVTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKLDTKHYPYISTRSSASFST TAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQANGKWEVLIGSTHILTPT KFLMDLRHPDFRESSRVSFEDQAPTME hide sequence

RefSeq Acc Id:	NP_001027392 ⟸ NM_001032221
- Peptide Label:	isoform b
- UniProtKB:	P61764 (UniProtKB/Swiss-Prot), Q68CM6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKR REPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIK TLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAEQIATLCATLKEYPAVRYR GEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPSSPVLHELTFQAMSYDL LPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKRMNTGE KTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIK DPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITEENLNKLIQHAQIPPEDSEIITNMAHLGV PIVTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKLDTKHYPYISTRSSASFST TAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCAYEVTQANGKWEVLIGSTHILTPQ KLLDTLKKLNKTDEEISS hide 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 Assembly	Chr	Position (strand)	Source
GRCh38	9	127,612,277 - 127,612,337	EPDNEW

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 Assembly	Chr	Position (strand)	Source
Build 36	9	129,413,994 - 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]

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