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 total
92 33 72 122 25 295

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 51 15 37 53 14 157
Rett syndrome, congenital variant 43 18 32 10 0 101
not specified 0 0 8 77 15 92
History of neurodevelopmental disorder 1 0 4 24 3 32
Inborn genetic diseases 8 0 2 0 0 10
See cases 1 0 0 1 0 2
Aplasia/Hypoplasia of the corpus callosum; Intellectual disability, severe; Congenital microcephaly 0 1 0 0 0 1
Global developmental delay; Muscular hypotonia of the trunk; Stereotypy; Strabismus; Abnormality of the optic nerve 1 0 0 0 0 1
Intellectual disability 0 0 0 1 0 1
Severe intellectual deficiency 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 43 13 11 78 11 156
Invitae 14 3 20 53 14 104
Ambry Genetics 9 0 6 24 3 42
Genetic Services Laboratory, University of Chicago 11 6 9 8 5 39
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 18 7 3 31
RettBASE 25 0 1 0 2 28
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 7 3 0 11
Athena Diagnostics Inc 0 0 4 3 1 8
OMIM 7 0 0 0 0 7
Center for Human Genetics, Inc 0 1 3 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 1 0 2 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 2 0 0 4
Mendelics 1 1 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Lineagen, Inc 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
ISCA site 4 0 0 0 1 0 1
ISCA site 6 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1

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