ClinVar Miner

Variants studied for colonic neoplasm

Included ClinVar conditions (10):
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
325 47 261 137 74 3 1 11 853

Gene and significance breakdown #

Total genes and gene combinations: 69
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
APC 86 2 57 26 23 0 1 0 193
MSH6 44 6 32 28 10 0 0 0 120
MSH2 53 7 27 9 9 0 0 0 105
MLH1 53 13 15 8 4 0 0 0 93
MUTYH 19 4 16 8 4 0 0 0 48
POLE 2 0 12 16 7 0 0 0 37
POLD1 0 0 8 13 11 0 0 1 33
PALB2 1 1 23 2 0 0 0 0 27
PMS2 12 1 7 4 1 0 0 0 25
KDR 0 0 14 0 0 0 0 0 14
FLT4, LOC126807632 0 0 13 0 0 0 0 0 13
ATM 2 1 2 4 2 0 0 0 11
FLT4 0 0 8 1 0 0 0 0 9
ATM, C11orf65 2 0 3 3 0 0 0 0 8
FLT1 0 0 1 0 0 0 0 7 8
BRAF 5 2 0 0 0 0 0 0 6
BRCA2 0 2 2 1 0 0 0 0 5
TP53 0 1 4 0 0 0 0 0 5
BMPR1A 0 0 1 3 0 0 0 0 4
CDH1 0 0 4 0 0 0 0 0 4
CHEK2 0 2 2 0 0 0 0 0 4
PIK3CA 4 0 0 0 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
STK11 0 0 2 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
EPCAM 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
AXIN2 2 0 0 0 0 0 0 0 2
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
CTNNB1, LOC126806658 2 0 0 0 0 0 0 0 2
EP300 2 0 0 0 0 0 0 0 2
FGFR3 2 0 0 0 0 0 0 0 2
FLCN 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
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
BUB1B 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
ERBB3 0 1 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
MRE11 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
PKHD1 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
XRCC2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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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 256 33 174 133 73 0 0 0 669
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 10 45
OMIM 43 0 0 0 0 0 0 0 43
3DMed Clinical Laboratory Inc 13 0 18 1 0 0 0 0 32
Leiden Open Variation Database 0 0 19 0 0 0 0 0 19
Pathway Genomics 8 1 3 1 1 0 0 0 14
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 10 3 1 0 0 0 0 0 14
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 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
Mendelics 0 0 1 1 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 2 0 0 0 0 0 0 0 2
Cancer Genetics Service, National Cancer Centre Singapore 0 0 2 0 0 0 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 1 0 0 0 0 0 2
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
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
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 1
Medical Genetics Department, and Science and Technology Unit, Umm-al-Qura University 1 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1

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