ClinVar Miner

Variants in gene FOXG1

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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 not provided total
113 51 103 149 30 1 390

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rett syndrome, congenital variant 59 30 65 80 17 1 242
not provided 59 17 36 31 2 0 140
not specified 0 0 8 77 15 0 92
History of neurodevelopmental disorder 1 0 4 24 3 0 32
Inborn genetic diseases 10 3 2 0 0 0 15
Intellectual disability 0 1 0 1 0 0 2
See cases 1 0 0 1 0 0 2
Aplasia/Hypoplasia of the corpus callosum; Intellectual disability, severe; Congenital microcephaly 0 1 0 0 0 0 1
Global developmental delay; Muscular hypotonia of the trunk; Stereotypy; Strabismus; Abnormality of the optic nerve 1 0 0 0 0 0 1
Lissencephaly 0 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Severe intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 29 4 54 89 18 0 194
GeneDx 43 13 11 78 11 0 156
Ambry Genetics 11 3 6 24 3 0 47
Genetic Services Laboratory, University of Chicago 11 7 7 8 6 0 39
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 1 18 7 3 0 31
RettBASE 25 0 1 0 2 0 28
CeGaT Praxis fuer Humangenetik Tuebingen 4 3 6 6 0 0 19
Athena Diagnostics Inc 1 0 4 3 1 0 9
OMIM 7 0 0 0 0 0 7
Baylor Genetics 0 2 3 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 2 3 0 0 0 0 5
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 3 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 1 0 2 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 2 2 0 0 0 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 2 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 4
Mendelics 1 1 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 1 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 1 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
ISCA site 4 0 0 0 1 0 0 1
ISCA site 6 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 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 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1

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