ClinVar Miner

Variants studied for colonic neoplasm

Included ClinVar conditions (19):
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
93 15 116 4 17 3 1 10 258

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
APC 12 1 39 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
MUTYH 8 1 4 1 1 0 0 0 15
KDR 0 0 14 0 0 0 0 0 14
AXIN2 2 0 10 0 1 0 0 0 13
TP53 5 2 6 0 0 0 0 0 13
FGFR3 8 0 3 0 0 0 0 0 11
FLT1 0 0 1 0 0 0 0 10 11
MLH1 9 0 0 0 0 0 0 0 9
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 5 2 0 0 0 0 0 0 6
MSH2 5 0 0 0 0 0 0 0 5
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
BAX 2 0 0 0 0 0 0 0 2
BRCA2 0 2 0 0 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 2
MSH6 1 0 0 1 0 0 0 0 2
POLD1 0 0 1 1 0 0 0 0 2
PTPRJ 2 0 0 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
BUB1 1 0 0 0 0 0 0 0 1
CDH1 0 0 1 0 0 0 0 0 1
CHEK2 0 1 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
ERBB3 0 1 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
PMS2 1 0 0 0 0 0 0 0 1
POLE 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
RAD54L 1 0 0 0 0 0 0 0 1
REV3L 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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Fulgent Genetics,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
3DMed Clinical Laboratory Inc 13 0 18 1 0 0 0 0 32
Invitae 1 0 2 1 14 0 0 0 18
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 1 0 0 0 0 3
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 0 0 3
Institute of Human Genetics,University of Wuerzburg 2 0 0 0 0 0 0 0 2
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
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 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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