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
138 46 85 140 57 4 417

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 81 22 30 50 40 2 216
not specified 0 0 11 80 34 0 111
Early infantile epileptic encephalopathy 25 5 22 9 2 0 63
Early infantile epileptic encephalopathy 4 39 12 4 5 0 0 58
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 0 15 18 2 0 35
History of neurodevelopmental disorder 1 0 2 12 5 0 20
Inborn genetic diseases 10 0 3 0 0 0 13
Epileptic encephalopathy 7 2 0 0 0 0 9
See cases 4 0 0 0 0 0 4
Early onset epileptic encephalopathy 0 0 0 0 0 2 2
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 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
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: 43
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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 25 5 22 39 21 0 112
Illumina Clinical Services Laboratory,Illumina 0 0 15 18 2 0 35
Ambry Genetics 11 0 5 12 5 0 33
Genetic Services Laboratory, University of Chicago 4 2 11 9 2 0 27
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 2 7 4 5 0 24
Athena Diagnostics Inc 1 0 1 0 8 0 10
GeneReviews 10 0 0 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 8 0 0 0 10
Mendelics 5 3 1 0 0 0 9
OMIM 7 0 1 0 0 0 8
PreventionGenetics,PreventionGenetics 0 0 0 1 5 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 2 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
Baylor Genetics 3 0 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Fulgent Genetics,Fulgent Genetics 3 0 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
Institute of Human Genetics,Klinikum rechts der Isar 1 1 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
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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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 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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
The Genetics Institute,Kaplan Medical center 1 0 0 0 0 0 1

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