ClinVar Miner

Variants in gene FASN

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1 0 1188 1166 118 1 60 2456

Condition and significance breakdown #

Total conditions: 26
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign association not provided total
Epileptic encephalopathy 0 1038 1109 117 0 0 2264
not specified 0 334 29 1 0 0 363
not provided 0 32 37 50 0 2 116
FASN-related disorder 0 14 50 15 0 0 79
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 14 14
Ovarian serous cystadenocarcinoma 0 0 0 0 0 10 10
Sarcoma 0 0 0 0 0 7 7
Lung cancer 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Autism spectrum disorder 0 0 0 0 1 0 1
Colorectal cancer 0 0 0 0 0 1 1
Esotropia; Hearing impairment; Abnormal facial shape; Tremor; Midface retrusion; Thrombocytopenia; Clinodactyly; Finger clinodactyly 0 1 0 0 0 0 1
FASN-associated disorder 1 0 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 1038 1113 117 0 0 2268
Ambry Genetics 0 333 27 0 0 0 360
Breakthrough Genomics, Breakthrough Genomics 0 15 16 49 0 0 80
PreventionGenetics, part of Exact Sciences 0 14 50 15 0 0 79
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 58 58
CeGaT Center for Human Genetics Tuebingen 0 4 20 1 0 0 25
GeneDx 0 0 2 4 0 0 6
Fulgent Genetics, Fulgent Genetics 0 5 0 0 0 0 5
Revvity Omics, Revvity 0 5 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1 0 0 2
New York Genome Center 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.