ClinVar Miner

Variants studied for colorectal carcinoma

Included ClinVar conditions (14):
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
377 48 334 138 76 4 1 1 10 980

Gene and significance breakdown #

Total genes and gene combinations: 83
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
APC 95 3 78 26 23 0 1 0 0 223
MSH6 46 6 36 27 10 0 0 0 0 123
MSH2 52 7 28 9 9 0 0 0 0 105
MLH1 42 13 13 8 4 0 0 0 0 80
MUTYH 20 3 15 8 4 0 0 0 0 48
POLE 3 0 16 17 8 0 0 0 0 43
POLD1 1 0 13 12 11 0 0 0 0 37
PALB2 1 1 23 2 0 0 0 0 0 27
PMS2 11 1 7 4 1 0 0 0 0 24
FLT4 0 0 22 1 0 0 0 0 0 23
TP53 10 2 7 1 0 0 0 0 0 20
AXIN2 2 0 10 1 1 0 0 0 0 14
KDR 0 0 14 0 0 0 0 0 0 14
ATM 3 1 2 4 2 0 0 0 0 12
FGFR3 8 0 3 0 0 0 0 0 0 11
FLT1 0 0 1 0 0 0 0 0 10 11
BUB1B 1 0 8 0 0 0 0 0 0 9
ATM, C11orf65 2 0 3 3 0 0 0 0 0 8
BRCA2 2 2 3 1 0 0 0 0 0 8
FLCN 3 1 4 0 0 0 0 0 0 8
PIK3CA 6 0 2 0 0 0 0 0 0 8
CHEK2 0 1 5 0 0 0 0 0 0 6
SMAD4 3 1 0 2 0 0 0 0 0 6
BRAF 5 0 0 0 0 0 0 1 0 5
DCC 2 0 3 0 0 0 0 0 0 5
BMPR1A 0 0 1 3 0 0 0 0 0 4
CDH1 1 0 3 0 0 0 0 0 0 4
CTNNB1 3 1 0 0 0 0 0 0 0 4
EP300 3 0 1 0 0 0 0 0 0 4
PPARG 4 0 0 0 0 0 0 0 0 4
STK11 0 0 1 3 0 0 0 0 0 4
​intergenic 0 0 0 0 0 3 0 0 0 3
AMER1 3 0 0 0 0 0 0 0 0 3
ARID1A 2 0 0 0 0 1 0 0 0 3
BARD1 0 0 2 1 0 0 0 0 0 3
BRCA1 1 0 1 1 0 0 0 0 0 3
BRIP1 1 1 0 0 1 0 0 0 0 3
DMD 3 0 0 0 0 0 0 0 0 3
MLH3 2 0 1 0 0 0 0 0 0 3
PTEN 0 0 0 3 0 0 0 0 0 3
BAX 2 0 0 0 0 0 0 0 0 2
BLM 2 0 0 0 0 0 0 0 0 2
EPCAM 2 0 0 0 0 0 0 0 0 2
ERBB2 2 0 0 0 0 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 0 2
RAD51C 0 0 2 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
BCL10 1 0 0 0 0 0 0 0 0 1
BUB1 1 0 0 0 0 0 0 0 0 1
CTNNA1 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
FBXW7 1 0 0 0 0 0 0 0 0 1
FGFR2 1 0 0 0 0 0 0 0 0 1
FZD3 1 0 0 0 0 0 0 0 0 1
GALNT12 0 0 1 0 0 0 0 0 0 1
IGF2, INS-IGF2 1 0 0 0 0 0 0 0 0 1
MET 1 0 0 0 0 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 0 0 0 1
MUTYH, TOE1 0 0 0 1 0 0 0 0 0 1
MYO1B 1 0 0 0 0 0 0 0 0 1
NBN 0 0 1 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
PDGFRA 0 0 0 0 1 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 0 1
PIK3R1 1 0 0 0 0 0 0 0 0 1
PMS1 1 0 0 0 0 0 0 0 0 1
PTPN12 1 0 0 0 0 0 0 0 0 1
RAD51D, RAD51L3-RFFL 0 0 1 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
RBFOX1 1 0 0 0 0 0 0 0 0 1
RET 1 0 0 0 0 0 0 0 0 1
REV3L 0 1 0 0 0 0 0 0 0 1
SLC9A9 1 0 0 0 0 0 0 0 0 1
SOX9 1 0 0 0 0 0 0 0 0 1
TCERG1 1 0 0 0 0 0 0 0 0 1
XRCC2 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Department of Pathology and Laboratory Medicine,Sinai Health System 255 33 174 133 73 0 0 0 0 668
Fulgent Genetics,Fulgent Genetics 23 3 52 0 2 0 0 0 0 80
OMIM 43 0 0 0 0 0 0 0 0 43
Genomic Center,National Cancer Institute 43 0 0 0 0 0 0 0 0 43
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
Pathway Genomics 8 1 3 1 1 0 0 0 0 14
Immunobiology Lab; University of Kashmir 0 0 0 0 0 0 0 0 10 10
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 6 0 0 1 0 0 0 0 0 7
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 6 0 0 0 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 4 0 0 0 0 0 0 5
Mendelics 0 0 2 1 0 0 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 0 3 0 0 0 0 0 0 3
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 0 0 0 3
Invitae 1 0 1 0 0 0 0 0 0 2
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 2 0 0 0 0 0 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
Baylor Genetics 0 0 1 0 0 0 0 0 0 1
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Genomics and Pathology Services,Washington University in St.Louis 0 0 1 0 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 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 0 1 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

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