ClinVar Miner

Variants from Medical Molecular Genetics,National Research Centre

Location: Egypt — Primary collection method: clinical testing
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
18 5 3 0 16 42

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
FKBP10 0 3 3 7 13
SERPINF1 2 2 0 9 13
ARSB 8 0 0 0 8
MECP2 6 0 0 0 6
LHCGR, STON1-GTF2A1L 1 0 0 0 1
LPCAT2 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
Osteogenesis imperfecta, type VI 2 2 0 9 13
Osteogenesis imperfecta, type XI 0 3 3 7 13
Mucopolysaccharidosis type VI 8 0 0 0 8
Rett syndrome 6 0 0 0 6
Leydig cell agenesis 1 0 0 0 1
Multicentric osteolysis, nodulosis and arthropathy 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.