ClinVar Miner

Variants in gene DLG4

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
50 27 52 23 9 4 139

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual developmental disorder 62 46 22 15 0 1 3 72
not provided 8 4 24 12 6 1 52
DLG4-related condition 0 0 4 10 2 0 16
Inborn genetic diseases 2 0 7 2 0 0 11
not specified 0 0 3 2 0 0 5
Intellectual disability 1 0 0 2 0 0 3
Marfanoid habitus and intellectual disability 0 2 0 0 0 0 2
Neurodevelopmental delay 2 0 0 0 0 0 2
Cerebral visual impairment and intellectual disability 0 1 0 0 0 0 1
DLG4-related synaptopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tumer Group, Copenhagen University Hospital, Rigshospitalet 31 13 8 0 0 0 52
Institute of Human Genetics, University of Leipzig Medical Center 34 3 1 0 0 0 38
GeneDx 5 1 18 1 0 0 25
PreventionGenetics, part of Exact Sciences 0 0 4 10 2 0 16
Invitae 2 1 1 7 3 0 14
Ambry Genetics 2 0 7 2 0 0 11
CeGaT Center for Human Genetics Tuebingen 1 0 2 5 3 0 11
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 2 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
OMIM 3 0 0 0 0 0 3
Illumina Laboratory Services, Illumina 1 0 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
3billion 1 1 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 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
UO Genetica Medica, University of Bologna 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1

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