ClinVar Miner

Variants studied for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (16):
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 risk factor not provided total
85 16 64 36 68 1 2 265

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ZFPM2 3 0 35 23 27 0 0 85
MAP3K1 6 4 11 10 27 0 0 58
NR5A1 19 8 4 1 4 0 0 34
SRY 27 1 4 1 1 0 0 34
DHH 10 2 4 1 2 0 0 19
NR0B1 10 0 4 0 3 0 0 17
AKR1C2 4 0 0 0 1 0 0 5
GATA4 1 0 0 0 3 0 0 4
CBX2 2 0 1 0 0 0 2 3
SOX9 3 0 0 0 0 0 0 3
DMRT1 0 1 1 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 16 5 59 34 51 0 0 165
OMIM 60 0 0 0 0 1 0 61
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 13 0 0 14
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 7 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 5 1 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 0 6
Genetic Services Laboratory, University of Chicago 2 2 0 0 0 0 0 4
Mendelics 0 0 1 1 2 0 0 4
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 0 3
Division of Paediatric Endocrinology and Diabetes,University of Luebeck 2 1 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Human Genetics Laboratory,Faculty of Medicine of Tunis 2 0 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Prenatal Diagnosis Centre,Shenzhen Maternity and Child Healthcare Hospital 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 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. 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.