ClinVar Miner

Variants from European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto

Location: Portugal  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
84 12 227 35 33 391

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CDH1 82 11 223 34 32 382
CDH1, LOC130059290 1 1 3 1 1 7
CDH1, LOC112486201, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128822933, LOC128849170, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298 1 0 0 0 0 1
CDH1, LOC128772407, LOC128849170 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary diffuse gastric adenocarcinoma 84 12 227 35 33 391

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