ClinVar Miner

Variants studied for hypospadias

Included ClinVar conditions (8):
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
10 1 20 8 4 43

Gene and significance breakdown #

Total genes and gene combinations: 13
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MAMLD1 4 0 5 2 3 14
AR 4 0 4 2 0 10
AR, LOC109504725 1 0 2 4 1 8
SYVN1 0 0 2 0 0 2
DDX46 0 0 1 0 0 1
FSCN3 0 0 1 0 0 1
HSD3B2 0 1 0 0 0 1
KAT6B 0 0 1 0 0 1
PACS1 0 0 1 0 0 1
PIK3CA 1 0 0 0 0 1
SND1 0 0 1 0 0 1
WNT11 0 0 1 0 0 1
WNT8A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 0 4 8 2 15
Matsson lab, Uppsala university 0 0 6 0 0 6
OMIM 5 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 3 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 0 3
Mendelics 0 0 1 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Translational Research Department, Sidra Medicine 0 1 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. 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.