ClinVar Miner

Variants in gene FASN

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 association not provided total
0 0 958 1017 116 1 2 2054

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition uncertain significance likely benign benign association not provided total
Epileptic encephalopathy 912 971 115 0 0 1998
Inborn genetic diseases 95 9 0 0 0 104
FASN-related condition 11 49 15 0 0 75
not provided 15 23 4 0 2 44
not specified 1 2 1 0 0 4
Seizure 2 0 0 0 0 2
Autism spectrum disorder 0 0 0 1 0 1
Esotropia; Hearing impairment; Abnormal facial shape; Tremor; Midface retrusion; Thrombocytopenia; Clinodactyly; Finger clinodactyly 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter uncertain significance likely benign benign association not provided total
Invitae 912 975 115 0 0 2002
Ambry Genetics 95 9 0 0 0 104
PreventionGenetics, part of Exact Sciences 11 49 15 0 0 75
CeGaT Center for Human Genetics Tuebingen 3 19 0 0 0 22
GeneDx 0 2 4 0 0 6
Revvity Omics, Revvity 5 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 5 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
New York Genome Center 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 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.