ClinVar Miner

Variants in gene GRIN2B

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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
72 109 283 274 85 16 714

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 7 9 155 152 53 0 375
not provided 32 25 71 67 24 14 224
not specified 0 0 28 99 33 0 149
Mental retardation, autosomal dominant 6 27 58 18 4 2 1 100
History of neurodevelopmental disorder 0 1 8 36 15 0 60
Complex neurodevelopmental disorder 10 21 3 0 0 0 34
Epileptic encephalopathy, early infantile, 27 7 4 9 1 0 0 21
Inborn genetic diseases 4 3 9 0 0 0 16
Intellectual disability 5 7 0 2 0 0 14
Intellectual Disability, Dominant 0 0 6 0 0 0 6
See cases 0 4 0 0 0 0 4
Seizures 0 0 2 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
Craniosynostosis syndrome; Seizures; Behavioral abnormality; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Intrauterine growth retardation; Difficulty walking; Intellectual disability, severe 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
Global developmental delay 0 1 0 0 0 0 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 1
Mental retardation, autosomal dominant 6; Behavioral abnormality; Self-injurious behavior; Sleep disturbance; Microcephaly; Intellectual disability; Muscular hypotonia 1 0 0 0 0 0 1
Paroxysmal dystonia 0 0 0 1 0 0 1
Seizures; Intellectual disability 0 0 1 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: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 6 152 177 58 0 398
GeneDx 25 18 56 94 40 0 233
Ambry Genetics 4 4 16 36 15 0 75
Institute of Human Genetics, University of Leipzig Medical Center 19 48 8 0 0 0 74
CeGaT Praxis fuer Humangenetik Tuebingen 6 3 20 11 0 0 40
Genetic Services Laboratory, University of Chicago 0 1 15 17 3 0 36
GenomeConnect - Simons Searchlight 10 21 3 0 0 0 34
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 2 10 0 0 0 12
Diagnostic Laboratory, Strasbourg University Hospital 4 7 0 0 0 0 11
Mendelics 2 5 0 1 0 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 5 0 1 0 7
Illumina Clinical Services Laboratory,Illumina 0 0 7 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 3 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 1 2 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 2 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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 2 0 0 0 0 3
Laboratory of Molecular Genetics,CHU RENNES 0 3 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 2 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 1 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 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
New York Genome Center 0 0 2 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 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
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 Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Costain lab, The Hospital for Sick Children 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Breda Genetics srl 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1

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