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
128 159 576 629 221 19 1490

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 37 20 322 515 159 0 1045
not provided 52 37 167 126 74 14 441
Inborn genetic diseases 8 6 50 80 17 0 161
Intellectual disability, autosomal dominant 6 42 78 29 4 5 1 144
not specified 1 0 27 61 39 0 113
Developmental and epileptic encephalopathy, 27 12 12 26 2 4 0 56
Complex neurodevelopmental disorder 10 21 3 0 0 0 34
Intellectual disability 5 7 0 2 0 0 14
GRIN2B-related condition 1 3 5 0 0 0 9
See cases 0 5 2 0 0 0 7
Intellectual Disability, Dominant 0 0 6 0 0 0 6
Developmental disorder 3 0 0 0 0 0 3
GRIN2B-Related Disorder 0 0 0 0 0 3 3
Autism spectrum disorder 1 0 0 1 0 0 2
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 1 0 1 0 0 0 2
Neurodevelopmental disorder 0 1 1 0 0 0 2
Seizure 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
Autistic behavior; Seizure; Atypical behavior; Intellectual disability 0 1 0 0 0 0 1
Autosomal dominant non-syndromic intellectual disability 1 0 0 0 0 0 1
Cerebral palsy 0 1 0 0 0 0 1
Craniosynostosis syndrome; Seizure; Fetal growth restriction; Atypical behavior; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Difficulty walking; Intellectual disability, severe 0 1 0 0 0 0 1
Dyssynergia; intellectual deficiency 0 1 0 0 0 0 1
Epilepsy; Dyssynergia; intellectual deficiency 0 1 0 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 0 1
Global developmental delay 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 6; Atypical behavior; Self-injurious behavior; Sleep abnormality; Microcephaly; Intellectual disability; Hypotonia 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 6; West syndrome; Lennox-Gastaut syndrome; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 0 0 0 0 0 1 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 1
Landau-Kleffner syndrome 0 0 1 0 0 0 1
Paroxysmal dystonia 0 0 0 1 0 0 1
Seizure; 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: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 14 314 516 161 0 1040
GeneDx 38 21 110 122 96 0 387
Ambry Genetics 8 6 50 80 17 0 161
CeGaT Center for Human Genetics Tuebingen 8 7 26 47 4 0 92
Institute of Human Genetics, University of Leipzig Medical Center 21 51 11 0 0 0 81
Genetic Services Laboratory, University of Chicago 0 1 17 17 7 0 42
GenomeConnect - Simons Searchlight 10 21 3 0 0 0 34
Revvity Omics, Revvity Omics 1 1 29 1 0 0 32
Athena Diagnostics Inc 0 0 0 3 17 0 20
Mendelics 8 8 2 1 0 0 19
Baylor Genetics 0 6 11 0 0 0 15
Psychiatry Genetics Yale University 0 0 0 0 0 14 14
OMIM 12 0 0 0 0 0 12
Diagnostic Laboratory, Strasbourg University Hospital 4 7 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 5 4 0 11
New York Genome Center 1 0 8 1 0 0 10
Preventiongenetics, part of Exact Sciences 1 3 5 0 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 2 0 0 4 0 9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 7 0 0 0 9
3billion 0 5 3 0 0 0 8
Eurofins Ntd Llc (ga) 1 0 5 0 1 0 7
Fulgent Genetics, Fulgent Genetics 0 0 4 3 0 0 7
Illumina Laboratory Services, Illumina 0 0 7 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 3 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 5 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 1 2 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 2 2 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 4 1 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 5 0 0 1 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 3 1 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 2 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 3 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Clinical Genetics and Genomics, 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, 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Laboratoire Génétique Moléculaire, CHRU TOURS 2 0 1 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 2 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 2 0 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
Clinical Genomics Program, Stanford Medicine 1 0 1 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Quantitative Genomic Medicine Laboratories, SL 0 1 0 0 0 0 1
Bionano Laboratories 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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 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
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 1 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
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
Genetic Medical Diagnostic Laboratory CellGenetics, GMDL CellGenetics 0 1 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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