ClinVar Miner

Variants studied for Gordon syndrome

Coded as:
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 total
6 5 5 0 24 40

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PIEZO2 6 5 5 24 40

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 24 24
Baylor Genetics 2 0 2 0 4
OMIM 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 2
3billion 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 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.