ClinVar Miner

Variants in gene FOXP1

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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 association total
41 17 107 68 19 1 241

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Intellectual Disability with Language Impairment and Autistic Features 0 0 75 44 9 0 128
not provided 23 8 12 4 3 0 49
not specified 0 0 10 14 6 0 27
Mental retardation with language impairment and with or without autistic features 16 5 3 0 0 0 23
History of neurodevelopmental disorder 0 0 6 13 2 0 21
Inborn genetic diseases 3 1 2 0 0 0 6
Intellectual disability 0 0 0 3 0 0 3
Mental retardation with language impairment and with or without autistic features; Cerebellar vermis hypoplasia 1 1 0 0 0 0 2
See cases 1 1 0 0 0 0 2
Anterior creases of earlobe; Delayed speech and language development; Strabismus; Glabellar hemangioma; Intellectual disability 0 1 0 0 0 0 1
Atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Heterotaxia; Single Ventricle Defect 0 0 0 0 0 1 1
Autistic disorder of childhood onset 0 1 0 0 0 0 1
Autistic disorder of childhood onset; Intellectual disability 1 0 0 0 0 0 1
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Illumina Clinical Services Laboratory,Illumina 0 0 75 44 9 0 128
Ambry Genetics 3 1 8 13 2 0 27
GeneDx 18 5 1 1 1 0 26
Genetic Services Laboratory, University of Chicago 3 0 9 8 2 0 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 5 5 4 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 5 0 0 0 7
OMIM 6 0 0 0 0 0 6
Language and Genetics Department,Max Planck Institute for Psycholinguistics 4 0 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 3 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Dobyns Lab,Seattle Children's Research Institute 1 1 0 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 2 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 1
Fulgent Genetics 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Genetic Diagnostic Laboratory,University of Szeged 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 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
Laboratoire de Genetique Biologique, CHU de Poitiers 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1

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