ClinVar Miner

Variants studied for digestive system cancer

Included ClinVar conditions (65):
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
344 518 1252 387 111 4 9 1029 15 3558

Gene and significance breakdown #

Total genes and gene combinations: 121
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
CDH1 108 44 724 294 47 0 0 0 1 1146
APC 16 2 59 0 1 0 1 930 0 1008
TP53 12 207 5 0 0 0 0 0 0 219
CBR4, PALLD 0 0 77 33 13 0 0 0 0 118
PALLD 0 0 51 42 22 0 1 0 0 114
​intergenic 1 0 0 0 0 3 0 94 0 98
BRCA2 24 2 44 2 1 0 1 0 0 74
POLE 0 4 51 1 0 0 0 0 0 56
BRCA1 21 0 25 1 2 0 1 0 0 50
PALB2 16 0 24 2 6 0 4 0 0 49
PIK3CA 7 44 2 0 0 0 0 0 0 47
EP300 5 2 15 1 14 0 0 0 0 37
CTNNB1 8 29 0 0 0 0 0 2 0 32
MUTYH 14 3 11 1 1 0 0 0 0 29
POLD1 0 0 22 2 0 0 0 0 0 24
SMAD4 7 10 7 0 0 0 0 0 0 23
FLT4 0 0 20 0 0 0 0 0 0 20
AXIN2 3 0 11 2 1 0 0 0 0 17
CHEK2 0 1 13 3 0 0 0 0 0 17
NRAS 1 15 0 0 0 0 0 0 0 15
ERBB2 1 14 0 0 0 0 0 0 0 14
FBXW7 0 14 0 0 0 0 0 0 0 14
KDR 0 0 14 0 0 0 0 0 0 14
FGFR2 8 5 1 0 0 0 0 0 0 13
HRAS, LRRC56 0 13 0 0 0 0 0 0 0 13
FGFR3 8 0 3 0 0 0 0 0 0 11
FLT1 0 0 1 0 0 0 0 0 10 11
STK11 3 1 7 0 0 0 0 0 0 11
MET 0 0 10 0 0 0 0 0 0 10
MLH1 9 1 0 0 0 0 0 0 0 10
TGFBR2 2 1 7 0 0 0 0 0 0 10
BUB1B 1 0 7 0 0 0 0 0 0 8
FLCN 3 1 4 0 0 0 0 0 0 8
RHOA 0 8 0 0 0 0 0 0 0 8
WWOX 1 0 6 1 1 0 0 0 0 8
BRAF 5 3 0 0 0 0 0 0 0 7
CDKN2A 0 7 0 0 0 0 0 0 0 7
MSH2 5 0 2 0 0 0 0 0 0 7
MSH6 1 0 5 1 0 0 0 0 0 7
ERBB3 0 6 0 0 0 0 0 0 0 6
KRAS 4 2 0 0 0 0 0 0 1 6
B2M 0 5 0 0 0 0 0 0 0 5
CASP10 2 0 3 0 0 0 0 0 0 5
FGFR1 0 5 0 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 5
MAP2K1 0 5 0 0 0 0 0 0 0 5
NFE2L2 0 5 0 0 0 0 0 0 0 5
PTEN 0 5 0 0 0 0 0 0 0 5
BCL10 4 0 0 0 0 0 0 0 0 4
CDH1, LOC112486201 2 0 2 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 4
IDH2 0 4 0 0 0 0 0 0 0 4
PPARG 4 0 0 0 0 0 0 0 0 4
TERT 2 0 2 0 0 0 0 0 0 4
DCC 1 0 2 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
MYC 0 3 0 0 0 0 0 0 0 3
PPP2R1A 0 3 0 0 0 0 0 0 0 3
RAF1 0 2 1 0 0 0 0 0 0 3
ACVR1 0 2 0 0 0 0 0 0 0 2
ACVR1B 2 0 0 0 0 0 0 0 0 2
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
ARID1A 0 0 0 0 0 1 0 1 0 2
BAX 2 0 0 0 0 0 0 0 0 2
CNOT9 0 2 0 0 0 0 0 0 0 2
EGFR 0 2 0 0 0 0 0 0 0 2
IGF2R 2 0 0 0 0 0 0 0 0 2
KIT 0 2 0 0 0 0 0 0 0 2
MAP2K2 0 2 0 0 0 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 0 2
MED12 0 2 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
MTOR 0 2 0 0 0 0 0 0 0 2
PDGFRL 2 0 0 0 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 0 2
RXRA 0 2 0 0 0 0 0 0 0 2
SEMA4A 0 0 2 0 0 0 0 0 0 2
SF3B1 0 2 0 0 0 0 0 0 0 2
SF3B2 0 2 0 0 0 0 0 0 0 2
U2AF1 0 2 0 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 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
AXIN1 1 0 0 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 0 1
BUB1 1 0 0 0 0 0 0 0 0 1
CASP8 1 0 0 0 0 0 0 0 0 1
CDK4 0 0 1 0 0 0 0 0 0 1
DLC1 1 0 0 0 0 0 0 0 0 1
ELN 0 0 1 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
IRF1 1 0 0 0 0 0 0 0 0 1
KAT5 0 0 0 0 0 0 0 0 1 1
KLF6 1 0 0 0 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 0 0 1
LOC110806263, TERT 0 1 0 0 0 0 0 0 0 1
MAF, WWOX 0 0 0 1 1 0 0 0 0 1
MN1 0 0 0 0 0 0 0 1 0 1
MST1R 0 0 0 0 0 0 1 0 0 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
MTHFR 0 0 0 0 0 0 0 0 1 1
MYCN, MYCNOS 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
PTPN11 0 1 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
RBBP8 1 0 0 0 0 0 0 0 0 1
REV3L 0 1 0 0 0 0 0 0 0 1
SET 0 0 0 0 0 0 0 1 0 1
TRIM28 0 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Invitae 87 26 791 274 71 0 0 0 0 1249
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 0 1024 0 1024
Database of Curated Mutations (DoCM) 0 452 0 0 0 0 0 0 2 454
Fulgent Genetics,Fulgent Genetics 88 5 178 0 5 0 0 0 0 276
Illumina Clinical Services Laboratory,Illumina 0 0 66 86 26 0 0 0 0 178
Counsyl 4 8 91 41 2 0 0 0 0 146
OMIM 116 0 0 0 0 0 8 0 0 124
Mendelics 2 1 88 4 0 0 0 0 0 95
3DMed Clinical Laboratory Inc 18 1 50 3 0 0 0 0 0 72
ClinGen CDH1 Variant Curation Expert Panel 15 5 14 1 15 0 0 0 0 50
CSER_CC_NCGL; University of Washington Medical Center 2 2 31 5 0 0 0 0 0 40
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 0 0 35
PALB2 database 10 0 4 2 6 0 0 0 0 22
Pathway Genomics 12 1 5 2 2 0 0 0 0 22
Immunobiology Lab; University of Kashmir 0 0 0 0 0 0 0 0 10 10
Integrated Genetics/Laboratory Corporation of America 3 4 0 0 0 0 0 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 3 3 0 0 0 0 0 0 7
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
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 0 5 0 5
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 2 1 2 0 0 0 0 0 0 5
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 5 0 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 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
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 3 0 0 0 0 0 3
Systems Biology Division; Zhejiang-California International Nanosystems Institute 0 0 0 0 0 0 0 0 2 2
Laboratório de Genética Humana e Médica, Universidade Federal do Pará 1 0 0 0 0 0 0 0 1 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 2 0 0 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 0 0 2
Center for Studies on Hereditary Cancer,University of Bologna 1 0 1 0 0 0 0 0 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 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
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 1 0 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 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
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 1 0 0 0 0 0 0 0 0 1
Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility,Centro di Riferimento Oncologico 1 0 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 0 0 1
Familial Cancer Clinical Unit,Spanish National Cancer Research Centre (CNIO) 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
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 0 1
Laboratory for Clinical Genomics and Advanced Technology,Dartmouth-Hitchcock Medical Center 1 0 0 0 0 0 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1 0 0 0 0 0 0 0 0 1

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