ClinVar Miner

Variants in gene GRIN2B

Minimum submission review status: Collection method:
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Gene type:
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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
54 47 235 217 81 16 539

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 31 19 68 61 24 14 210
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 6 5 85 65 49 0 209
not specified 0 0 28 99 33 0 148
Intellectual Disability, Dominant 0 0 49 19 0 0 68
History of neurodevelopmental disorder 0 1 8 36 15 0 60
Mental retardation, autosomal dominant 6 14 12 5 4 2 1 34
Epileptic encephalopathy, early infantile, 27 5 3 6 0 0 0 14
Inborn genetic diseases 4 0 5 0 0 0 9
Intellectual disability 1 0 0 1 0 0 2
See cases 0 2 0 0 0 0 2
Astigmatism; Motor delay; Delayed speech and language development; Joint hypermobility; Long fingers 1 0 0 0 0 0 1
Ataxia; intellectual deficiency 0 1 0 0 0 0 1
Autistic behavior; Seizures; Behavioral abnormality; Intellectual disability 0 1 0 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 0 0 0 1
Epilepsy; Ataxia; intellectual deficiency 0 1 0 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 0 1
GRIN2B-Related Disorder 0 0 0 0 0 1 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 1
Seizures 0 0 1 0 0 0 1
Seizures; Behavioral abnormality; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Craniosynostosis; Intrauterine growth retardation; Difficulty walking; Intellectual disability, severe 0 1 0 0 0 0 1
developmental delay with intractable seizures 0 0 1 0 0 0 1
intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 3 82 111 54 0 255
GeneDx 25 18 56 94 40 0 233
Illumina Clinical Services Laboratory,Illumina 0 0 50 19 0 0 69
Ambry Genetics 4 1 12 36 15 0 68
Genetic Services Laboratory, University of Chicago 0 1 16 16 3 0 36
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 20 5 0 0 32
Athena Diagnostics Inc 0 0 1 1 16 0 18
Psychiatry Genetics Yale University 0 0 0 0 0 14 14
OMIM 12 0 0 0 0 0 12
Baylor Genetics 0 1 7 0 0 0 8
Mendelics 2 5 0 1 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 5 0 1 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 1 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 2 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 0 0 0 0 3
Laboratory of Molecular Genetics,CHU RENNES 0 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 2 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1

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