ClinVar Miner

Variants studied for Familial colorectal cancer

Coded as:
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 other not provided total
17 2 81 3 3 1024 5 1135

Gene and significance breakdown #

Total genes and gene combinations: 25
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
APC 0 0 1 2 0 930 1 934
​intergenic 0 0 0 0 0 94 0 94
POLE 0 0 37 0 0 0 0 37
GREM1, SCG5 2 0 20 0 0 0 0 22
POLD1 0 0 12 1 0 0 0 13
ARHGAP11A-SCG5, GREM1, LOC125078054, SCG5 1 0 4 0 0 0 0 5
MUTYH 4 1 0 0 0 0 0 5
GREM1 0 0 1 0 2 0 0 3
MT-CO1 3 0 0 0 0 0 0 3
MLH1 0 0 1 0 0 0 1 2
MT-CYB 2 0 0 0 0 0 0 2
TP53 2 0 0 0 0 0 0 2
AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAL, ADAM10, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APH1B, AQP9, AQR, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ATOSA, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf39, C15orf40, C15orf48, C15orf61, C15orf62, 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, CIMAP1C, 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, 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, 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, OIP5, ONECUT1, PAK6, PAQR5, PARP16, PARP6, PATL2, PCLAF, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PHGR1, PIAS1, PIERCE2, 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, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNUPN, SNX1, SNX22, SNX33, SORD, 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, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH 0 0 1 0 0 0 0 1
ARHGAP11A, CHRNA7, FAN1, GOLGA8N, GOLGA8O, GREM1, KLF13, MIR211, MTMR10, OTUD7A, RYR3, SCG5, TRPM1 0 0 1 0 0 0 0 1
ARHGAP11A, CHRNA7, GOLGA8N, GOLGA8O, GREM1, RYR3, SCG5 0 0 1 0 0 0 0 1
ARHGAP11A-SCG5, GREM1, SCG5 0 0 1 0 0 0 0 1
GALNT12 0 0 0 0 0 0 1 1
GREM1, RYR3, SCG5 0 0 1 0 0 0 0 1
KAT5 0 0 0 0 0 0 1 1
MSH2 0 1 0 0 0 0 0 1
MT-CO2 1 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 0 1
PLA2G2A 1 0 0 0 0 0 0 1
TGFBR2 0 0 0 0 1 0 0 1
TRIM28 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 1024 0 1024
Mendelics 0 0 49 0 0 0 0 49
Invitae 3 0 30 0 2 0 0 35
OMIM 10 0 0 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 1 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Systems Biology Division; Zhejiang-California International Nanosystems Institute 0 0 0 0 0 0 2 2
DASA 2 0 0 0 0 0 0 2
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 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.