ClinVar Miner

Variants in gene CHRNA4

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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 protective not provided total
6 2 281 225 79 2 45 520

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal dominant nocturnal frontal lobe epilepsy 2 0 183 127 30 0 0 342
not provided 2 1 95 43 36 0 1 175
not specified 0 0 11 89 39 0 0 126
Seizures 1 0 12 34 9 0 0 55
Tobacco use disorder 0 0 0 0 0 0 43 43
Epilepsy, nocturnal frontal lobe, type 1 6 1 17 0 4 0 1 28
Epilepsy, nocturnal frontal lobe, type 1; Tobacco addiction, susceptibility to 0 0 6 0 0 0 0 6
Amyotrophic lateral sclerosis 0 0 1 2 0 0 0 3
Inborn genetic diseases 0 0 2 0 0 0 0 2
Nicotine addiction, protection against 0 0 0 0 0 2 0 2
Intellectual disability 0 0 0 1 0 0 0 1
none provided 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Invitae 2 0 183 146 31 0 0 362
GeneDx 2 1 71 88 56 0 0 218
Ambry Genetics 1 0 11 34 9 0 0 55
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 25 1 18 0 0 44
Psychiatry Genetics Yale University 0 0 0 0 0 0 43 43
Athena Diagnostics Inc 0 0 7 0 15 0 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 7 0 0 0 15
Genetic Services Laboratory, University of Chicago 0 0 1 10 0 0 0 11
PreventionGenetics, PreventionGenetics 0 0 0 1 9 0 0 10
Baylor Genetics 0 0 7 0 0 0 0 7
OMIM 3 0 0 0 0 2 0 5
GeneReviews 5 0 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 1 3 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 1 1
Breda Genetics srl 0 0 1 0 0 0 0 1

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