ClinVar Miner

Variants studied for colorectal cancer

Included ClinVar conditions (42):
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
1889 539 2274 733 399 4 1 1025 23 6469

Gene and significance breakdown #

Total genes and gene combinations: 109
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
MSH2 604 149 400 124 64 0 0 0 3 1243
APC 96 4 87 28 23 0 1 930 0 1159
MLH1 613 185 278 117 71 0 0 0 1 1151
MSH6 275 113 492 184 64 0 0 0 3 1046
MLH3 4 1 405 111 45 0 0 0 0 531
PMS2 126 60 265 67 47 0 0 0 3 508
​intergenic 0 0 0 0 0 3 0 94 0 97
EP300 7 1 16 21 44 0 0 0 0 89
EPCAM 12 2 66 4 3 0 0 0 1 88
POLE 3 0 58 17 8 0 0 0 0 84
POLD1 1 0 27 14 11 0 0 0 0 53
MUTYH 21 4 16 8 4 0 0 0 0 49
PALB2 1 1 23 2 0 0 0 0 0 27
FLT4 0 0 22 1 0 0 0 0 0 23
TP53 12 3 7 1 0 0 0 0 0 23
AXIN2 3 0 11 2 1 0 0 0 0 17
KDR 0 0 14 0 0 0 0 0 0 14
TGFBR2 4 1 10 0 0 0 0 0 0 14
GREM1, SCG5 2 0 11 0 0 0 0 0 0 13
ATM 3 1 2 4 2 0 0 0 0 12
FGFR3 8 0 3 0 0 0 0 0 0 11
FLT1 0 0 1 0 0 0 0 0 10 11
BUB1B 1 0 8 0 0 0 0 0 0 9
PIK3CA 6 1 2 0 0 0 0 0 0 9
ATM, C11orf65 2 0 3 3 0 0 0 0 0 8
BRCA2 2 2 3 1 0 0 0 0 0 8
FLCN 3 1 4 0 0 0 0 0 0 8
ARHGAP11A-SCG5, GREM1, SCG5 1 0 5 0 0 0 0 0 0 6
CHEK2 0 1 5 0 0 0 0 0 0 6
EIF2B2, MLH3 0 0 0 6 2 0 0 0 0 6
FBXO11, MSH6 2 0 3 0 1 0 0 0 0 6
SMAD4 3 1 0 2 0 0 0 0 0 6
BRAF 5 0 0 0 0 0 0 1 0 5
CDH1 1 0 4 0 0 0 0 0 0 5
DCC 2 0 3 0 0 0 0 0 0 5
BMPR1A 0 0 1 3 0 0 0 0 0 4
CTNNB1 3 1 0 0 0 0 0 0 0 4
PPARG 4 0 0 0 0 0 0 0 0 4
STK11 0 0 1 3 0 0 0 0 0 4
AIMP2, PMS2 0 0 0 0 3 0 0 0 0 3
AMER1 3 0 0 0 0 0 0 0 0 3
ARID1A 2 0 0 0 0 1 0 0 0 3
BARD1 0 0 2 1 0 0 0 0 0 3
BRCA1 1 0 1 1 0 0 0 0 0 3
BRIP1 1 1 0 0 1 0 0 0 0 3
DMD 3 0 0 0 0 0 0 0 0 3
EPCAM, MIR559 1 0 2 0 0 0 0 0 0 3
MT-CO1 3 0 0 0 0 0 0 0 0 3
PTEN 0 0 0 3 0 0 0 0 0 3
BAX 2 0 0 0 0 0 0 0 0 2
BLM 2 0 0 0 0 0 0 0 0 2
ERBB2 2 0 0 0 0 0 0 0 0 2
KCNK12, MSH2 0 0 1 1 0 0 0 0 0 2
LRRFIP2, MLH1 1 0 0 0 1 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 0 2
MT-CYB 2 0 0 0 0 0 0 0 0 2
PMS1 1 0 1 0 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 0 2
RAD51C 0 0 2 0 0 0 0 0 0 2
RAD51D, RAD51L3-RFFL 0 1 1 0 0 0 0 0 0 2
RB1 1 1 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
AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS7, ADAMTSL3, ADPGK, AEN, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APH1B, AQP9, AQR, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, C15orf65, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CFAP161, CGNL1, CHAC1, CHP1, CHRM5, CHRNA3, CHRNA5, CHRNB4, CHST14, CIAO2A, CIB1, CIB2, CILP, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, EPB42, ETFA, EXD1, FAH, FAM214A, FAM219B, FAM227B, FAM81A, FAM98B, FANCI, FBN1, FBXL22, FBXO22, FEM1B, FGF7, FOXB1, FRMD5, FSD2, FSIP1, GABPB1, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA8A, GOLGA8B, GOLM2, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HERC1, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IL16, IMP3, INO80, INSYN1, INTS14, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LIPC, LMAN1L, LOC100128979, LOXL1, LPCAT4, LRRC49, LRRC57, LTK, LYSMD2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPK6, MAPKBP1, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR9-3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NMB, NOP10, NOX5, NPTN, NR2E3, NRG4, NTRK3, NUSAP1, NUTM1, OAZ2, ODF3L1, OIP5, ONECUT1, PAK6, PAQR5, PARP16, PARP6, PATL2, PCLAF, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PHGR1, PIAS1, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRTG, PSMA4, PSTPIP1, PTPN9, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCN2, REC114, RFX7, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNUPN, SNX1, SNX22, SNX33, SORD, SPATA5L1, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, STARD5, STARD9, STOML1, STRA6, STRC, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM7, TSPAN3, TTBK2, TUBGCP4, TYRO3, UACA, UBAP1L, UBE2Q2, UBL7, UBR1, ULK3, UNC13C, USP3, USP50, USP8, VPS13C, VPS18, VPS39, WDR61, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH 0 0 1 0 0 0 0 0 0 1
ABCG5, ABCG8, ARHGEF33, ATL2, ATP6V1E2, BCYRN1, CALM2, CAMKMT, CDKL4, COX7A2L, CRIPT, CYP1B1, DHX57, DYNC2LI1, EML4, EPAS1, EPCAM, GALM, GEMIN6, HAAO, HNRNPLL, KCNG3, LINC02898, LRPPRC, MAP4K3, MCFD2, MORN2, MSH2, MTA3, OXER1, PIGF, PKDCC, PLEKHH2, PPM1B, PREPL, PRKCE, RHOQ, RMDN2, SIX2, SIX3, SLC3A1, SLC8A1, SOCS5, SOS1, SOS1-IT1, SRBD1, SRSF7, STPG4, THADA, THUMPD2, TMEM178A, TMEM247, TTC7A, ZFP36L2 1 0 0 0 0 0 0 0 0 1
AKAP9 0 0 0 0 1 0 0 0 0 1
AKT1 1 0 0 0 0 0 0 0 0 1
AREL1, MLH3 1 0 0 1 1 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 0 1
BUB1 1 0 0 0 0 0 0 0 0 1
CTNNA1 1 0 0 0 0 0 0 0 0 1
DLC1 1 0 0 0 0 0 0 0 0 1
EPCAM, STPG4 0 0 0 1 0 0 0 0 0 1
EPM2AIP1, LOC115995508, MLH1, TRANK1 1 0 0 0 0 0 0 0 0 1
EPM2AIP1, MLH1 0 0 0 0 1 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
FBXW7 1 0 0 0 0 0 0 0 0 1
FGFR2 1 0 0 0 0 0 0 0 0 1
FZD3 1 0 0 0 0 0 0 0 0 1
GALNT12 0 0 1 0 0 0 0 0 0 1
IGF2, INS-IGF2 1 0 0 0 0 0 0 0 0 1
KAT5 0 0 0 0 0 0 0 0 1 1
MET 1 0 0 0 0 0 0 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
MUTYH, TOE1 0 0 0 1 0 0 0 0 0 1
MYO1B 1 0 0 0 0 0 0 0 0 1
NBN 0 0 1 0 0 0 0 0 0 1
NFE2L2 0 1 0 0 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 0 0 1
ORMDL1, PMS1 0 0 0 1 0 0 0 0 0 1
PDGFRA 0 0 0 0 1 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 0 1
PIK3R1 1 0 0 0 0 0 0 0 0 1
PKHD1 1 0 0 0 0 0 0 0 0 1
PLA2G2A 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
RBFOX1 1 0 0 0 0 0 0 0 0 1
RET 1 0 0 0 0 0 0 0 0 1
REV3L 0 1 0 0 0 0 0 0 0 1
SLC9A9 1 0 0 0 0 0 0 0 0 1
SOX9 1 0 0 0 0 0 0 0 0 1
TCERG1 1 0 0 0 0 0 0 0 0 1
TLR2 0 0 1 0 0 0 0 0 0 1
TRIM28 0 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 83
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1197 197 38 100 182 0 0 0 0 1714
Invitae 151 20 662 109 89 0 0 0 0 1031
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 0 1024 0 1024
Department of Pathology and Laboratory Medicine,Sinai Health System 326 42 216 149 77 0 0 0 0 810
Counsyl 63 48 474 192 21 0 0 0 0 798
Mendelics 25 19 309 118 40 0 0 0 0 511
Illumina Clinical Services Laboratory,Illumina 0 4 336 108 51 0 0 0 0 497
Integrated Genetics/Laboratory Corporation of America 196 137 7 2 47 0 0 0 0 389
University of Washington Department of Laboratory Medicine, University of Washington 54 34 128 43 6 0 0 0 0 264
Fulgent Genetics,Fulgent Genetics 48 8 163 2 2 0 0 0 0 223
OMIM 126 0 8 0 0 0 0 0 0 134
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 60 14 0 0 0 0 1 0 1 76
Pathway Genomics 18 5 18 9 24 0 0 0 0 74
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 9 0 4 7 41 0 0 0 0 61
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 0 2 12 30 0 0 0 0 53
Ding PR Lab,Sun Yat-sen University Cancer Center 9 14 29 0 0 0 0 0 0 52
CSER _CC_NCGL, University of Washington 2 3 36 7 1 0 0 0 0 49
Center for Human Genetics, Inc,Center for Human Genetics, Inc 6 4 28 8 1 0 0 0 0 47
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 3 13 28 0 0 0 0 45
Genomic Center,National Cancer Institute 43 0 0 0 0 0 0 0 0 43
3DMed Clinical Laboratory Inc 13 0 25 1 0 0 0 0 0 39
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 27 8 2 0 0 0 0 0 0 37
Institute of Human Genetics, University of Leipzig Medical Center 13 7 12 3 1 0 0 0 0 36
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 0 0 35
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 26 1 5 0 0 0 0 0 0 32
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 27 3 1 0 0 0 0 32
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 16 2 13 0 0 0 0 31
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 13 11 0 0 0 0 0 0 0 24
Baylor Genetics 1 0 21 0 0 0 0 0 0 22
Leiden Open Variation Database 1 0 19 0 0 0 0 0 0 20
Division of Medical Genetics, University of Washington 5 0 15 0 0 0 0 0 0 20
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 1 8 5 0 0 0 0 18
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 11 1 0 0 0 0 0 0 0 12
Immunobiology Lab; University of Kashmir 0 0 0 0 0 0 0 0 10 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 10 0 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 10 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 7 0 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 2 0 0 0 0 0 0 7
Genome Sciences Centre,British Columbia Cancer Agency 4 3 0 0 0 0 0 0 0 7
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 6 0 0 1 0 0 0 0 0 7
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 2 3 2 0 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 2 0 0 0 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 0 6
IntelligeneCG 0 0 0 0 5 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 4 0 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 3 0 0 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 1 0 0 1 0 0 0 0 3
Clinical Genetics laboratory, University of Goettingen 1 0 2 0 0 0 0 0 0 3
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 0 0 3
King Laboratory,University of Washington 2 0 0 0 0 0 0 0 0 2
Systems Biology Division; Zhejiang-California International Nanosystems Institute 0 0 0 0 0 0 0 0 2 2
Institute of Human Genetics,University of Wuerzburg 2 0 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 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
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 2 0 0 0 0 0 0 2
Center for Studies on Hereditary Cancer,University of Bologna 1 0 1 0 0 0 0 0 0 2
Cancer Genetics Service,National Cancer Centre Singapore 0 0 2 0 0 0 0 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 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
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 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
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 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
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 0 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 0 1
Biologie des Tumeurs Solides,CHU de Montpellier 1 0 0 0 0 0 0 0 0 1
Department of Human Anatomy, Histology and Embryology;Department of Pathology,Peking University Health Science Center 1 0 0 0 0 0 0 0 0 1
MNM Diagnostics 0 1 0 0 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 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.