ClinVar Miner

Variants studied for colorectal carcinoma

Included ClinVar conditions (15):
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 association risk factor not provided total
83 14 148 7 18 4 1 10 285

Gene and significance breakdown #

Total genes and gene combinations: 49
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
APC 11 1 40 0 1 0 1 0 54
EP300 3 0 2 1 14 0 0 0 20
FLT4 0 0 20 0 0 0 0 0 20
CHEK2 0 1 12 3 0 0 0 0 16
AXIN2 2 0 10 1 1 0 0 0 14
KDR 0 0 14 0 0 0 0 0 14
MUTYH 8 1 3 1 1 0 0 0 14
TP53 5 2 5 0 0 0 0 0 12
FGFR3 8 0 3 0 0 0 0 0 11
FLT1 0 0 1 0 0 0 0 10 11
BUB1B 1 0 7 0 0 0 0 0 8
FLCN 3 1 4 0 0 0 0 0 8
PIK3CA 5 0 2 0 0 0 0 0 7
BRAF 6 0 0 0 0 0 0 0 6
POLD1 0 0 6 0 0 0 0 0 6
POLE 0 0 5 1 0 0 0 0 6
MSH6 1 0 4 0 0 0 0 0 5
BRCA2 1 2 1 0 0 0 0 0 4
MSH2 2 0 2 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
CTNNB1 3 0 0 0 0 0 0 0 3
DCC 1 0 2 0 0 0 0 0 3
BAX 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
MLH3 1 0 1 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 2
SEMA4A 0 0 2 0 0 0 0 0 2
AKAP9 0 0 0 0 1 0 0 0 1
AKT1 1 0 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 1 0 0 1
BCL10 1 0 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 1
BUB1 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
GALNT12 0 0 1 0 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 0 0 1
NFE2L2 0 1 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
PTPN12 1 0 0 0 0 0 0 0 1
RAD54B 1 0 0 0 0 0 0 0 1
RAD54L 1 0 0 0 0 0 0 0 1
REV3L 0 1 0 0 0 0 0 0 1
SMAD4 0 1 0 0 0 0 0 0 1
XRCC2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Fulgent Genetics 23 3 52 0 2 0 0 0 80
OMIM 43 0 0 0 0 0 0 0 43
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 0 35
CSER_CC_NCGL; University of Washington Medical Center 0 0 26 2 0 0 0 0 28
3DMed Clinical Laboratory Inc 6 0 16 0 0 0 0 0 22
Invitae 1 0 2 1 14 0 0 0 18
Illumina Clinical Services Laboratory,Illumina 0 0 12 3 0 0 0 0 15
Pathway Genomics 8 1 3 1 1 0 0 0 14
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
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 2 0 0 0 0 0 0 2
Center for Studies on Hereditary Cancer,University of Bologna 1 0 1 0 0 0 0 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 0 1
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
Department of Molecular and Medical Genetics,Osaka Medical Center for Cancer and Cardiovascular Diseases 0 1 0 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 0 1 0 1
Department of Biochemistry,Shiraz University of Medical Sciences 0 0 0 0 0 1 0 0 1

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