ClinVar Miner

Variants in gene SYNGAP1

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Minimum submission review status: Collection method:
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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
88 30 82 76 23 271

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mental retardation, autosomal dominant 5 56 12 44 44 19 171
not provided 27 11 14 1 2 55
History of neurodevelopmental disorder 3 1 9 24 10 47
not specified 0 0 14 15 5 33
Inborn genetic diseases 15 1 7 0 0 23
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
Intellectual disability 1 0 0 0 0 1
Mental retardation, autosomal recessive 5 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

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 2 40 41 19 127
Ambry Genetics 17 2 16 24 10 69
Genetic Services Laboratory, University of Chicago 8 1 12 15 3 39
GeneDx 26 6 4 0 1 37
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 9 0 0 13
OMIM 10 0 0 0 0 10
Baylor Miraca Genetics Laboratories, 7 0 0 0 0 7
Fulgent Genetics 3 0 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 0 0 4
Laboratoire de Cytogenetique,Hospices Civils de Lyon 4 0 0 0 0 4
Athena Diagnostics Inc 0 0 2 0 1 3
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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 2
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
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 0 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 1 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 0 2
Claritas Genomics 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 1
Diagnostic Laboratory,Strasbourg University Hospital 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1

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