ClinVar Miner

Variants studied for enophthalmos

Included ClinVar conditions (15):
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
15 5 4 0 0 24

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
DYRK1A 7 2 0 9
​intergenic 3 1 1 5
MCM7 2 0 0 2
SBDS 1 1 0 2
CHRNB2 0 0 1 1
CSNK2B 1 0 0 1
DSCR4, DSCR8, DYRK1A, ERG, HLCS, KCNJ15, KCNJ6, PIGP, RIPPLY3, SIM2, TTC3, VPS26C 1 0 0 1
GLI2 0 0 1 1
PTK2 0 0 1 1
SLC9A6 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 8 2 0 10
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 3 1 1 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 1
Cologne Center for Genomics, Faculty of Medicine, University of Cologne 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.