ClinVar Miner

Variants studied for colorectal carcinoma

Included ClinVar conditions (7):
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 other not provided total
77 12 188 8 3 4 1 1025 12 1328

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
APC 2 0 19 0 0 0 1 930 0 952
​intergenic 0 0 0 0 0 3 0 94 0 97
POLE 0 0 49 1 0 0 0 0 0 50
FLT4 0 0 22 1 0 0 0 0 0 23
POLD1 0 0 21 1 0 0 0 0 0 22
PALB2 0 0 19 0 0 0 0 0 0 19
MUTYH 10 2 3 1 1 0 0 0 0 16
CHEK2 0 0 12 3 0 0 0 0 0 15
KDR 0 0 14 0 0 0 0 0 0 14
FLT1 0 0 1 0 0 0 0 0 10 11
GREM1, SCG5 2 0 5 0 0 0 0 0 0 7
MSH2 3 0 2 0 1 0 0 0 0 6
BRAF 5 0 0 0 0 0 0 1 0 5
MSH6 1 0 4 0 0 0 0 0 0 5
ARHGAP11A-SCG5, GREM1, SCG5 1 0 3 0 0 0 0 0 0 4
BRCA2 1 2 1 0 0 0 0 0 0 4
PIK3CA 4 0 0 0 0 0 0 0 0 4
PPARG 4 0 0 0 0 0 0 0 0 4
TP53 2 1 1 0 0 0 0 0 0 4
AXIN2 2 0 0 1 0 0 0 0 0 3
BUB1 3 0 0 0 0 0 0 0 0 3
DCC 1 0 2 0 0 0 0 0 0 3
MT-CO1 3 0 0 0 0 0 0 0 0 3
ARHGAP11A-SCG5, GREM1, LOC100131315, SCG5 0 0 2 0 0 0 0 0 0 2
BARD1 0 0 2 0 0 0 0 0 0 2
BAX 2 0 0 0 0 0 0 0 0 2
BRIP1 1 1 0 0 0 0 0 0 0 2
CTNNB1 2 0 0 0 0 0 0 0 0 2
EP300 2 0 0 0 0 0 0 0 0 2
FGFR3 2 0 0 0 0 0 0 0 0 2
FLCN 2 0 0 0 0 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 0 2
MLH1 2 0 0 0 0 0 0 0 0 2
MLH3 1 0 1 0 0 0 0 0 0 2
MT-CYB 2 0 0 0 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 0 2
SEMA4A 0 0 2 0 0 0 0 0 0 2
AKAP9 0 0 0 0 1 0 0 0 0 1
AKT1 1 0 0 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 1 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 0 1
BUB1B 1 0 0 0 0 0 0 0 0 1
DLC1 1 0 0 0 0 0 0 0 0 1
FANCC 0 1 0 0 0 0 0 0 0 1
FANCE 0 1 0 0 0 0 0 0 0 1
GALNT12 0 0 1 0 0 0 0 0 0 1
KAT5 0 0 0 0 0 0 0 0 1 1
MT-CO2 1 0 0 0 0 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 0 0 0 1
NFE2L2 0 1 0 0 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 0 1
PLA2G2A 1 0 0 0 0 0 0 0 0 1
PPM1D 0 0 1 0 0 0 0 0 0 1
PTPN12 1 0 0 0 0 0 0 0 0 1
RAD54B 1 0 0 0 0 0 0 0 0 1
RAD54L 1 0 0 0 0 0 0 0 0 1
REV3L 0 1 0 0 0 0 0 0 0 1
SMAD4 0 1 0 0 0 0 0 0 0 1
TGFBR2 0 1 0 0 0 0 0 0 0 1
TRIM28 0 0 0 0 0 0 0 0 1 1
XRCC2 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 0 1024 0 1024
Mendelics 0 0 63 1 0 0 0 0 0 64
OMIM 55 0 0 0 0 0 0 0 0 55
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 0 0 35
CSER _CC_NCGL, University of Washington 0 0 26 2 0 0 0 0 0 28
3DMed Clinical Laboratory Inc 6 0 16 0 0 0 0 0 0 22
Leiden Open Variation Database 1 0 19 0 0 0 0 0 0 20
Illumina Clinical Services Laboratory,Illumina 0 0 12 3 0 0 0 0 0 15
Pathway Genomics 8 1 3 1 1 0 0 0 0 14
Invitae 3 0 10 0 0 0 0 0 0 13
Immunobiology Lab; University of Kashmir 0 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 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 3 1 0 0 0 0 0 0 5
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 1 0 0 0 0 3
Systems Biology Division; Zhejiang-California International Nanosystems Institute 0 0 0 0 0 0 0 0 2 2
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 2 0 0 0 0 0 0 0 2
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1 0 0 2
Center for Studies on Hereditary Cancer,University of Bologna 1 0 1 0 0 0 0 0 0 2
Cancer Genetics Service,National Cancer Centre Singapore 0 0 2 0 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 0 0 1 0 0 1
Genomics and Pathology Services,Washington University in St.Louis 0 0 1 0 0 0 0 0 0 1
Department of Biochemistry,Shiraz University of Medical Sciences 0 0 0 0 0 1 0 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 0 0 1 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 0 0 1

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