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 2 161 127 47 2 44 304

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 81 30 21 0 0 133
not specified 0 0 11 88 39 0 0 125
not provided 2 1 87 1 7 0 1 98
Seizures 1 0 13 32 9 0 0 55
Tobacco use disorder 0 0 0 0 0 0 43 43
Epilepsy, nocturnal frontal lobe, type 1 6 1 7 0 4 0 0 17
Epilepsy, nocturnal frontal lobe, type 1; Tobacco addiction, susceptibility to 0 0 6 0 0 0 0 6
Inborn genetic diseases 0 0 2 0 0 0 0 2
Nicotine addiction, protection against 0 0 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
GeneDx 2 1 71 77 28 0 0 179
Invitae 1 0 81 30 21 0 0 133
Ambry Genetics 1 0 13 32 9 0 0 55
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 26 1 18 0 0 44
Psychiatry Genetics Yale University 0 0 0 0 0 0 43 43
Athena Diagnostics Inc 0 0 3 0 14 0 0 17
Genetic Services Laboratory, University of Chicago 0 0 1 10 0 0 0 11
PreventionGenetics 0 0 0 1 9 0 0 10
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 0 0 4 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 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

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