ClinVar Miner

Variants in gene SYNGAP1

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Minimum submission review status: Collection method:
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Gene type:

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
336 148 692 692 214 39 1892

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual disability, autosomal dominant 5 257 96 434 584 156 10 1476
not provided 98 32 211 133 75 2 525
Inborn genetic diseases 36 9 103 60 16 0 224
not specified 0 0 32 32 22 0 79
SYNGAP1-related disorder 2 5 14 21 6 3 51
Complex neurodevelopmental disorder 11 5 3 0 0 0 19
Intellectual disability 6 6 2 0 0 0 14
Seizure 3 2 0 2 0 0 7
See cases 1 0 4 1 0 0 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Developmental disorder 1 0 1 0 0 0 2
Familial cancer of breast 0 0 0 0 0 2 2
Global developmental delay 0 0 2 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Neurodevelopmental disorder 1 1 0 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Autosomal dominant epilepsy 0 1 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Absent speech 0 1 0 0 0 0 1
Epilepsy with myoclonic atonic seizures 1 0 0 0 0 0 1
Epileptic encephalopathy 0 1 0 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Global developmental delay; Motor delay; Atypical behavior; Delayed speech and language development 0 1 0 0 0 0 1
Global developmental delay; Stereotypic movement disorder; Delayed speech and language development; Preauricular skin tag; Generalized hypotonia 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hereditary ataxia 0 0 1 0 0 0 1
Infantile epilepsy syndrome 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 5; Infantile epileptic dyskinetic encephalopathy 0 0 0 0 0 1 1
Intellectual disability, autosomal recessive 5 0 1 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Microcephaly; Epileptic encephalopathy 0 1 0 0 0 0 1
Motor delay; Atypical behavior; Aggressive behavior; Ptosis; Pointed chin; Abnormal sternum morphology; Delayed speech and language development; Downslanted palpebral fissures; Triangular face; Wide nasal bridge; High forehead; Bulbous tips of toes; Floppy infant 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
SYNGAP1-related complex neurodevelopmental disorder 1 0 0 0 0 0 1
SYNGAP1-related encephalopathy 1 0 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 126
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 167 25 377 580 155 0 1304
GeneDx 78 11 150 67 74 0 380
Ambry Genetics 36 9 103 60 16 0 224
CeGaT Center for Human Genetics Tuebingen 18 10 38 72 4 0 142
PreventionGenetics, part of Exact Sciences 2 5 14 21 6 0 48
Genetic Services Laboratory, University of Chicago 9 1 11 21 4 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 18 10 0 0 31
Revvity Omics, Revvity 3 4 18 1 1 0 27
Baylor Genetics 10 2 12 0 0 0 24
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 23 23
Institute of Human Genetics, University of Leipzig Medical Center 11 6 6 0 0 0 23
Génétique des Maladies du Développement, Hospices Civils de Lyon 17 3 0 2 0 0 22
GenomeConnect - Simons Searchlight 12 5 3 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 3 3 0 0 0 19
3billion 8 6 2 1 0 0 17
Breakthrough Genomics, Breakthrough Genomics 0 0 2 13 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 10 1 0 0 15
Fulgent Genetics, Fulgent Genetics 4 0 5 5 0 0 14
Athena Diagnostics 1 0 2 0 10 0 13
GenomeConnect - Brain Gene Registry 0 0 0 0 0 13 13
New York Genome Center 1 0 12 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 9 0 12
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 11 0 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 5 0 0 0 10
Mendelics 7 2 1 0 0 0 10
OMIM 10 0 0 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 5 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 4 4 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 1 2 0 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2 1 0 0 6 0 9
Department of Pediatric Neurology, Seoul National University Children's Hospital 6 2 0 0 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 1 4 2 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 1 5 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 3 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 0 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 2 1 1 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 1 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 1 0 1 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 1 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 1 0 4
Institute of Human Genetics Munich, TUM University Hospital 2 2 0 0 0 0 4
MVZ Martinsried, Medicover Genetics 3 0 1 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 1 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 1 1 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 1 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 3 0 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 1 2 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 1 0 0 0 3
Department of Human Genetics, Hannover Medical School 1 2 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 1 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 3 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Dasa 1 1 0 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 1 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 2 0 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 1 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 1 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 2 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 2 0 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre for Human Genetics, University of Kinshasa 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 1
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Genelabs Medical (pvt) Ltd 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Rare Disease Center, Seoul National University Hospital 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1

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