ClinVar Miner

Variants from Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)

Location: Portugal — Primary collection method: not provided
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 not provided total
0 0 0 0 0 22 22

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination not provided total
A2ML1 6 6
PTPN11 6 6
CBL 3 3
RAF1 2 2
SOS1 2 2
BRAF 1 1
RIT1 1 1
SHOC2 1 1

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition not provided total
Noonan syndrome 1 6 6
not provided 6 6
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 3 3
Noonan syndrome 4 2 2
Noonan syndrome 5 2 2
Cardiofaciocutaneous syndrome 1 1 1
Noonan syndrome 8 1 1
Noonan syndrome-like disorder with loose anagen hair 1 1 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.