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
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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
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Condition not provided total
Noonan syndrome 1 6 6
not provided 6 6
CBL-related disorder 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

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