ClinVar Miner

Variants in gene STXBP1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
190 75 135 155 62 4 564

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy with suppression bursts 55 12 78 57 25 0 227
not provided 97 25 31 37 25 2 213
not specified 0 0 10 80 34 0 111
Early infantile epileptic encephalopathy 4 55 21 12 5 0 0 89
Infantile epilepsy syndrome 26 14 3 0 0 0 43
Inborn genetic diseases 13 1 7 0 0 0 21
History of neurodevelopmental disorder 1 0 2 12 5 0 20
Intellectual disability 4 4 3 0 0 0 11
Epileptic encephalopathy 7 2 0 0 0 0 9
See cases 5 0 0 0 0 0 5
Congenital cerebellar hypoplasia 0 2 0 0 0 0 2
Early onset epileptic encephalopathy 0 0 0 0 0 2 2
Autism spectrum disorder 0 1 0 0 0 0 1
Autistic disorder of childhood onset; Global developmental delay 1 0 0 0 0 0 1
Autistic disorder of childhood onset; Neurodegeneration; Photosensitive tonic-clonic seizures; Intellectual disability, severe 0 1 0 0 0 0 1
Cerebellar ataxia; Intellectual disability 0 1 0 0 0 0 1
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 0 1 0 0 1
Early infantile epileptic encephalopathy 4; Cerebellar vermis hypoplasia 0 1 0 0 0 0 1
Early infantile epileptic encephalopathy 4; West syndrome; Cerebellar vermis hypoplasia 0 1 0 0 0 0 1
Global developmental delay; Muscular hypotonia of the trunk; Delayed speech and language development; Strabismus; Horizontal nystagmus; Generalized hypotonia; Infantile spasms 1 0 0 0 0 0 1
Global developmental delay; Seizures; Behavioral abnormality; Macrocephalus; Hand tremor 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Microcephaly; Severe global developmental delay 1 0 0 0 0 0 1
STXBP1-associated neurodevelopmental disorder 1 0 0 0 0 0 1
STXBP1-related neurodevelopmental disorder 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 1 0 0 0 0 1
Severe intellectual deficiency 0 1 0 0 0 0 1
Spasticity; Intellectual disability 1 0 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 80 16 16 87 50 0 249
Invitae 55 12 78 66 27 0 238
GenomeConnect - Simons Searchlight 26 14 3 0 0 0 43
Ambry Genetics 14 1 9 12 5 0 41
CeGaT Praxis fuer Humangenetik Tuebingen 18 4 9 5 0 0 36
Genetic Services Laboratory, University of Chicago 4 2 10 9 3 0 27
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 2 7 4 5 0 24
Institute of Human Genetics, University of Leipzig Medical Center 10 2 4 0 0 0 16
Athena Diagnostics Inc 1 0 1 1 8 0 11
GeneReviews 10 0 0 0 0 0 10
Mendelics 5 3 1 0 0 0 9
OMIM 7 0 1 0 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 4 2 2 0 0 0 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 2 0 0 0 0 7
Baylor Genetics 5 0 1 0 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 1 5 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 0 0 0 0 0 6
Neurogenetics Laboratory - MEYER,AOU Meyer 5 0 0 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 3 2 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 1 0 1 1 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Laboratory of Molecular Genetics,CHU RENNES 0 2 0 0 0 0 2
Wu Jinyu Laboratory, Institute of Genomic Medicine,Wenzhou Medical University 2 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 1 0 0 0 0 0 1
The Genetics Institute,Kaplan Medical center 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Institute of Molecular Medicine and Oncology,Chongqing Medical University 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

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