ClinVar Miner

Variants in gene CHRNB2

See also:
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
4 6 352 255 34 3 602

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 263 211 18 1 495
not provided 2 2 123 41 21 0 182
Inborn genetic diseases 1 1 39 35 6 0 82
not specified 0 0 10 31 15 0 50
Autosomal dominant nocturnal frontal lobe epilepsy 3 3 3 26 7 2 2 40
CHRNB2-related disorder 0 0 5 6 1 0 12
Autosomal dominant nocturnal frontal lobe epilepsy 1 1 0 0 0 0 0 1
Focal clonic seizure 0 0 1 0 0 0 1
Generalized-onset seizure 0 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 0 1
See cases 0 0 1 0 0 0 1
Seizure; Deeply set eye; Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 263 211 18 0 495
GeneDx 1 2 108 46 28 0 185
Ambry Genetics 1 1 39 35 6 0 82
CeGaT Center for Human Genetics Tuebingen 1 0 15 15 2 0 33
Athena Diagnostics 0 0 7 1 8 0 16
PreventionGenetics, part of Exact Sciences 0 0 5 7 4 0 16
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 8 0 15
Eurofins Ntd Llc (ga) 0 0 6 3 2 0 11
Fulgent Genetics, Fulgent Genetics 0 0 4 5 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 3 3 0 0 7
New York Genome Center 0 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 2 1 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 1 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.