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 not provided total
324 46 296 136 76 3 1 10 887

Gene and significance breakdown #

Total genes and gene combinations: 66
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
APC 91 3 72 26 23 0 1 0 213
MSH6 44 6 32 27 10 0 0 0 119
MSH2 51 7 26 9 9 0 0 0 102
MLH1 42 13 13 8 4 0 0 0 80
MUTYH 19 3 15 8 4 0 0 0 47
POLE 2 0 11 16 7 0 0 0 36
POLD1 0 0 8 12 11 0 0 0 31
PALB2 0 1 23 2 0 0 0 0 26
PMS2 11 1 7 4 1 0 0 0 24
KDR 0 0 14 0 0 0 0 0 14
AXIN2 2 1 9 0 1 0 0 0 13
FLT4, LOC126807632 0 0 13 0 0 0 0 0 13
ATM 1 1 2 4 2 0 0 0 10
FGFR3 7 0 3 0 0 0 0 0 10
TP53 3 2 5 0 0 0 0 0 10
FLT4 0 0 8 1 0 0 0 0 9
BUB1B 1 0 7 0 0 0 0 0 8
EP300 5 0 1 1 1 0 0 0 8
FLCN 3 1 4 0 0 0 0 0 8
FLT1 0 0 1 0 0 0 0 7 8
ATM, C11orf65 1 0 3 3 0 0 0 0 7
PIK3CA 5 0 2 0 0 0 0 0 7
BRAF 5 0 0 0 0 0 0 0 5
BRCA2 0 2 2 1 0 0 0 0 5
BMPR1A 0 0 1 3 0 0 0 0 4
PPARG 4 0 0 0 0 0 0 0 4
SMAD4 2 0 0 2 0 0 0 0 4
​intergenic 0 0 0 0 0 3 0 0 3
BARD1 0 0 2 1 0 0 0 0 3
CDH1 0 0 3 0 0 0 0 0 3
CHEK2 0 1 2 0 0 0 0 0 3
CTNNB1, LOC126806658 3 0 0 0 0 0 0 0 3
FLT1, LOC126861720 0 0 0 0 0 0 0 3 3
PTEN 0 0 0 3 0 0 0 0 3
STK11 0 0 1 2 0 0 0 0 3
BAX 2 0 0 0 0 0 0 0 2
BRCA1 1 0 0 1 0 0 0 0 2
BRIP1 0 1 0 0 1 0 0 0 2
EPCAM 2 0 0 0 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 2
RAD51C 0 0 2 0 0 0 0 0 2
AKT1 1 0 0 0 0 0 0 0 1
AOPEP, FANCC 0 1 0 0 0 0 0 0 1
APC, LOC129994371 0 0 1 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 1
BRCA1, LOC126862571 0 0 1 0 0 0 0 0 1
BUB1 1 0 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
FANCE 0 1 0 0 0 0 0 0 1
LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 0 0 1
LOC130009266, POLE 0 0 0 0 1 0 0 0 1
LOC130062899, STK11 0 0 0 1 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
MUTYH, TOE1 0 0 0 1 0 0 0 0 1
NBN 0 0 1 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 0 1
PDGFRA 0 0 0 0 1 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 1
PTPN12 1 0 0 0 0 0 0 0 1
RAD51D, RAD51L3-RFFL 0 0 1 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

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Department of Pathology and Laboratory Medicine, Sinai Health System 255 33 174 133 73 0 0 0 668
Fulgent Genetics, Fulgent Genetics 20 3 49 0 2 0 0 0 74
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 10 45
OMIM 43 0 0 0 0 0 0 0 43
Leiden Open Variation Database 0 0 19 0 0 0 0 0 19
3DMed Clinical Laboratory Inc 6 0 13 0 0 0 0 0 19
Pathway Genomics 8 1 3 1 1 0 0 0 14
Invitae 3 0 1 1 1 0 0 0 6
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
Mendelics 0 0 1 1 0 0 0 0 2
Cancer Genetics Service, National Cancer Centre Singapore 0 0 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 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

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