ClinVar Miner

Variants studied for Carcinoma of colon

Coded as:
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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 association risk factor not provided total
57 8 47 1 1 3 1 10 128

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
FLT4 0 0 20 0 0 0 0 0 20
KDR 0 0 14 0 0 0 0 0 14
MUTYH 8 1 3 1 1 0 0 0 14
FLT1 0 0 1 0 0 0 0 10 11
APC 2 0 7 0 0 0 1 0 10
BRAF 5 0 0 0 0 0 0 0 5
PIK3CA 4 0 0 0 0 0 0 0 4
PPARG 4 0 0 0 0 0 0 0 4
​intergenic 0 0 0 0 0 3 0 0 3
BUB1 3 0 0 0 0 0 0 0 3
AXIN2 2 0 0 0 0 0 0 0 2
BAX 2 0 0 0 0 0 0 0 2
BRCA2 0 2 0 0 0 0 0 0 2
CTNNB1 2 0 0 0 0 0 0 0 2
EP300 2 0 0 0 0 0 0 0 2
FGFR3 2 0 0 0 0 0 0 0 2
FLCN 2 0 0 0 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 2
MLH1 2 0 0 0 0 0 0 0 2
MSH2 2 0 0 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 2
TP53 0 1 1 0 0 0 0 0 2
AKT1 1 0 0 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 1
BUB1B 1 0 0 0 0 0 0 0 1
DCC 1 0 0 0 0 0 0 0 1
DLC1 1 0 0 0 0 0 0 0 1
FANCC 0 1 0 0 0 0 0 0 1
FANCE 0 1 0 0 0 0 0 0 1
MLH3 1 0 0 0 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 1
POLD1 0 0 1 0 0 0 0 0 1
PTPN12 1 0 0 0 0 0 0 0 1
RAD54B 1 0 0 0 0 0 0 0 1
REV3L 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
OMIM 44 0 0 0 0 0 0 0 44
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 0 35
Pathway Genomics 8 1 3 1 1 0 0 0 14
3DMed Clinical Laboratory Inc 5 0 7 0 0 0 0 0 12
Immunobiology Lab; University of Kashmir 0 0 0 0 0 0 0 10 10
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 6 0 0 0 0 0 0 6
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 1
Genomics and Pathology Services,Washington University in St.Louis 0 0 1 0 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 0 1 0 1

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