ClinVar Miner

Variants studied for colorectal neoplasm

Included ClinVar conditions (29):
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
170 373 252 15 18 4 1 1024 17 1865

Gene and significance breakdown #

Total genes and gene combinations: 88
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
APC 13 11 58 4 1 0 1 930 0 1016
TP53 7 162 6 0 0 0 0 0 0 173
​intergenic 0 0 0 0 0 3 0 94 0 97
POLE 0 4 51 1 0 0 0 0 0 56
PIK3CA 14 39 2 0 0 0 0 0 0 54
EP300 5 0 15 1 14 0 0 0 0 35
KRAS 22 4 0 0 0 0 0 0 0 26
POLD1 0 0 22 2 0 0 0 0 0 24
BRAF 13 10 0 0 0 0 0 0 0 22
FLT4 0 0 20 0 0 0 0 0 0 20
AXIN2 3 0 11 2 1 0 0 0 0 17
MUTYH 10 2 4 1 1 0 0 0 0 17
CHEK2 0 1 12 3 0 0 0 0 0 16
SMAD4 8 8 0 0 0 0 0 0 0 16
CTNNB1 3 13 0 0 0 0 0 0 0 15
FBXW7 0 15 0 0 0 0 0 0 0 15
HRAS, LRRC56 0 14 0 0 0 0 0 0 1 15
KDR 0 0 14 0 0 0 0 0 0 14
NRAS 8 7 0 0 0 0 0 0 0 14
FGFR3 8 0 3 0 0 0 0 0 0 11
FLT1 0 0 1 0 0 0 0 0 10 11
ERBB2 0 10 0 0 0 0 0 0 0 10
MLH1 9 0 0 0 0 0 0 0 0 9
BUB1B 1 0 7 0 0 0 0 0 0 8
FLCN 3 1 4 0 0 0 0 0 0 8
MSH2 5 1 2 0 0 0 0 0 0 8
PTEN 3 5 0 0 0 0 0 0 0 8
IDH2 0 7 0 0 0 0 0 0 0 7
MAP2K1 0 6 0 0 0 0 0 0 0 6
MSH6 1 0 4 1 0 0 0 0 0 6
B2M 0 5 0 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 5
BRCA2 1 2 1 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 4
EGFR 0 1 0 0 0 0 0 0 3 4
PPARG 4 0 0 0 0 0 0 0 0 4
PTPN11 0 4 0 0 0 0 0 0 0 4
BUB1 3 0 0 0 0 0 0 0 0 3
CDKN2A 0 3 0 0 0 0 0 0 0 3
DCC 1 0 2 0 0 0 0 0 0 3
ERBB3 0 3 0 0 0 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 0 3
MT-CO1 3 0 0 0 0 0 0 0 0 3
MTOR 0 3 0 0 0 0 0 0 0 3
PPP2R1A 0 3 0 0 0 0 0 0 0 3
RHOA 0 3 0 0 0 0 0 0 0 3
XPO1 0 3 0 0 0 0 0 0 0 3
ARHGAP11A-SCG5, GREM1, LOC105370757, SCG5 0 0 2 0 0 0 0 0 0 2
ARHGAP11A-SCG5, GREM1, SCG5 1 0 1 0 0 0 0 0 0 2
BAX 2 0 0 0 0 0 0 0 0 2
MCC 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
RAF1 0 2 0 0 0 0 0 0 0 2
SEMA4A 0 0 2 0 0 0 0 0 0 2
XRCC2 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
AKT2 0 1 0 0 0 0 0 0 0 1
ARHGAP11A-SCG5, GREM1, LOC100131315, LOC105370757, SCG5 0 0 1 0 0 0 0 0 0 1
ARHGAP11A-SCG5, GREM1, LOC100131315, SCG5 0 0 1 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 1 0 0 0 1
ATE1, FGFR2, WDR11 0 0 1 0 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 0 1
CDH1 0 0 1 0 0 0 0 0 0 1
DLC1 1 0 0 0 0 0 0 0 0 1
EPHB2 0 1 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
GSTP1 0 0 0 0 0 0 0 0 1 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
PDGFRL 1 0 0 0 0 0 0 0 0 1
PIK3R1 0 1 0 0 0 0 0 0 0 1
PLA2G2A 1 0 0 0 0 0 0 0 0 1
PMS2 1 0 0 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
TGFBR2 0 1 0 0 0 0 0 0 0 1
TRIM28 0 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
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
Database of Curated Mutations (DoCM) 62 355 0 0 0 0 0 0 5 421
Fulgent Genetics,Fulgent Genetics 23 3 52 0 2 0 0 0 0 80
Mendelics 0 0 63 0 0 0 0 0 0 63
OMIM 55 0 0 0 0 0 0 0 0 55
CSER_CC_NCGL; University of Washington Medical Center 1 0 37 8 0 0 0 0 0 46
Invitae 4 0 20 1 14 0 0 0 0 39
3DMed Clinical Laboratory Inc 13 0 25 1 0 0 0 0 0 39
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 0 0 35
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
Immunobiology Lab; University of Kashmir 0 0 0 0 0 0 0 0 10 10
Genome Sciences Centre,British Columbia Cancer Agency 4 3 0 0 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 3 1 0 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 0 0 0 5
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 0 0 3
Institute of Human Genetics,University of Wuerzburg 2 1 0 0 0 0 0 0 0 3
Systems Biology Division; Zhejiang-California International Nanosystems Institute 0 0 0 0 0 0 0 0 2 2
Genomics and Pathology Services,Washington University in St.Louis 0 0 2 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
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
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 1 0 0 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
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 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
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.