ClinVar Miner

Variants in gene SYNGAP1

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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 total
160 69 212 195 39 632

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mental retardation, autosomal dominant 5 114 39 166 142 33 482
not provided 42 15 21 45 7 130
History of neurodevelopmental disorder 3 1 9 24 10 47
not specified 0 0 14 16 8 36
Inborn genetic diseases 19 3 8 0 0 30
Complex neurodevelopmental disorder 11 5 3 0 0 19
Intellectual disability 1 5 3 0 0 9
Neurodevelopmental disorder 1 1 0 0 0 2
Cerebellar ataxia; Global developmental delay; Absent speech 0 1 0 0 0 1
Epileptic encephalopathy 0 1 0 0 0 1
Global developmental delay 0 0 1 0 0 1
Global developmental delay; Motor delay; Behavioral abnormality; Delayed speech and language development 0 1 0 0 0 1
Global developmental delay; Stereotypy; Delayed speech and language development; Preauricular skin tag; Generalized hypotonia 0 1 0 0 0 1
Infantile epilepsy syndrome 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 1
Mental retardation, autosomal recessive 5 0 1 0 0 0 1
Microcephaly; Epileptic encephalopathy 0 1 0 0 0 1
Motor delay; Behavioral abnormality; Aggressive behavior; Ptosis; Pointed chin; Abnormality of the sternum; Delayed speech and language development; Downslanted palpebral fissures; Triangular face; Wide nasal bridge; High forehead; Bulbous tips of toes; Infantile muscular hypotonia 0 1 0 0 0 1
Seizures 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 73 12 143 164 37 429
Ambry Genetics 21 4 17 24 10 76
GeneDx 29 6 4 0 1 40
Genetic Services Laboratory, University of Chicago 8 1 10 16 4 39
CeGaT Praxis fuer Humangenetik Tuebingen 9 6 16 4 0 35
Baylor Genetics 9 2 12 0 0 23
GenomeConnect - Simons Searchlight 12 5 3 0 0 20
Génétique des Maladies du Développement, Hospices Civils de Lyon 14 1 0 1 0 16
OMIM 10 0 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 4 4 0 0 9
Athena Diagnostics Inc 0 0 2 0 5 7
Diagnostic Laboratory, Strasbourg University Hospital 1 4 2 0 0 7
Mendelics 5 0 1 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 4 0 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 1 1 0 0 5
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 1 1 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 3 0 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 2 0 0 0 3
New York Genome Center 0 0 3 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 0 2
Claritas Genomics 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 0 1 0 0 0 1

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