ClinVar Miner

Variants studied for colorectal neoplasm

Included ClinVar conditions (84):
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 established risk allele protective risk factor other not provided total
5245 1835 11111 6499 1047 4 1 1 4 1024 119 24482

Gene and significance breakdown #

Total genes and gene combinations: 178
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele protective risk factor other not provided total
MSH6 1352 312 3425 2169 298 0 0 0 0 0 25 6817
MSH2 1449 414 2342 1575 312 0 0 0 0 0 21 5389
MLH1 1309 421 1589 1065 162 0 0 0 0 0 32 4064
PMS2 608 244 2084 1097 107 0 0 0 0 0 16 3857
APC 109 16 137 40 23 0 1 0 1 930 1 1238
MLH3 4 2 785 305 51 0 0 0 0 0 0 1100
AXIN2 3 16 175 10 3 0 0 0 0 0 0 206
TP53 20 163 10 6 2 0 0 0 0 0 0 193
EPCAM 40 4 83 20 12 0 0 0 0 0 2 158
FLCN 10 4 70 26 2 0 0 0 0 0 0 112
​intergenic 0 0 0 0 0 3 0 0 2 94 0 99
POLE 3 8 44 19 7 0 0 0 0 0 0 80
LOC129933707, MSH6 5 6 25 35 4 0 0 0 0 0 0 68
BRAF 15 12 9 23 1 0 0 0 0 0 0 59
PIK3CA 16 39 3 0 0 0 0 0 0 0 0 56
MUTYH 21 5 17 8 4 0 0 0 0 0 0 51
TGFBR2 4 1 37 7 1 0 0 0 0 0 0 49
POLD1 1 0 21 14 11 0 0 0 0 0 1 48
CHEK2 9 9 24 1 0 0 0 0 0 0 2 44
PALB2 4 3 23 2 0 0 0 0 0 0 0 32
EP300 10 1 5 11 3 0 0 0 0 0 0 30
BUB1B 1 0 14 4 11 0 0 0 0 0 0 29
FGFR3 12 0 10 5 1 0 0 0 0 0 0 28
EPCAM, MSH2 22 0 5 0 0 0 0 0 0 0 0 27
KRAS 22 4 0 0 0 0 0 0 0 0 0 26
GREM1, SCG5 2 0 20 0 0 0 0 0 0 0 0 22
SMAD4 11 8 0 2 0 0 0 0 0 0 0 21
AIMP2, PMS2 9 0 6 0 3 0 0 0 0 0 0 18
EPCAM, LOC129933695, MIR559, MSH2 14 0 3 0 0 0 0 0 0 0 0 17
CTNNB1, LOC126806658 3 13 0 1 0 0 0 0 0 0 0 16
FBXW7 1 15 0 0 0 0 0 0 0 0 0 16
NRAS 8 8 1 0 0 0 0 0 0 0 0 16
HRAS, LRRC56 0 14 0 0 0 0 0 0 0 0 1 15
ATM 4 2 2 4 2 0 0 0 0 0 0 14
KDR 0 0 14 0 0 0 0 0 0 0 0 14
CTNNA1 5 1 7 0 0 0 0 0 0 0 0 13
EPCAM, MIR559 8 0 5 0 0 0 0 0 0 0 0 13
FLT4, LOC126807632 0 0 13 0 0 0 0 0 0 0 0 13
DLC1 1 0 3 6 2 0 0 0 0 0 0 12
ERBB2 2 10 0 0 0 0 0 0 0 0 0 12
LOC129997916, PMS2 6 0 5 0 1 0 0 0 0 0 0 12
ATM, C11orf65 5 0 3 3 0 0 0 0 0 0 0 11
EPM2AIP1, MLH1 6 0 3 1 2 0 0 0 0 0 0 11
LOC129933707, LOC129933708, MSH6 7 1 3 0 0 0 0 0 0 0 0 11
PTEN 3 5 0 3 0 0 0 0 0 0 0 11
BRCA2 3 3 3 1 0 0 0 0 0 0 0 10
EPM2AIP1, LOC129936471, MLH1 8 0 2 0 0 0 0 0 0 0 0 10
FLT4 0 0 8 1 1 0 0 0 0 0 0 10
DCC 2 0 3 3 1 0 0 0 0 0 0 9
FBXO11, MSH6 2 0 6 0 2 0 0 0 0 0 0 9
FLT1 0 0 1 0 0 0 0 0 0 0 7 8
LOC129933706, MSH6 0 0 3 3 3 0 0 0 0 0 0 8
BRCA1 3 0 3 1 0 0 0 0 0 0 0 7
IDH2 0 7 0 0 0 0 0 0 0 0 0 7
CTNNB1, LOC126806659 2 2 1 1 0 0 0 0 0 0 0 6
EIF2B2, MLH3 0 0 0 6 2 0 0 0 0 0 0 6
MAP2K1 0 6 0 0 0 0 0 0 0 0 0 6
ARHGAP11A-SCG5, GREM1, LOC125078054, SCG5 1 0 4 0 0 0 0 0 0 0 0 5
B2M 0 5 0 0 0 0 0 0 0 0 0 5
BUB1B, BUB1B-PAK6 0 0 2 0 3 0 0 0 0 0 0 5
CDH1 1 0 4 0 0 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 0 0 5
LOC129933695, MSH2 4 1 0 0 0 0 0 0 0 0 1 5
RPS20 0 0 5 0 0 0 0 0 0 0 0 5
AMER1 3 1 0 0 0 0 0 0 0 0 0 4
BMPR1A 0 0 1 3 0 0 0 0 0 0 0 4
BUB1 3 0 1 0 0 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 0 0 4
CTNNB1 2 0 0 2 0 0 0 0 0 0 0 4
EGFR 0 1 0 0 0 0 0 0 0 0 3 4
LRRFIP2, MLH1 3 0 0 0 1 0 0 0 0 0 0 4
PPARG 4 0 0 0 0 0 0 0 0 0 0 4
PTPN11 0 4 0 0 0 0 0 0 0 0 0 4
STK11 0 0 2 2 0 0 0 0 0 0 0 4
TLR2 0 0 3 1 0 0 0 0 0 0 0 4
ARID1A 2 0 0 0 0 1 0 0 0 0 0 3
BARD1 0 0 2 1 0 0 0 0 0 0 0 3
BCYRN1, EPCAM, MSH2 3 0 0 0 0 0 0 0 0 0 0 3
BLM 3 0 0 0 0 0 0 0 0 0 0 3
BRAF, LOC126860202 0 0 2 1 0 0 0 0 0 0 0 3
BRIP1 1 1 0 0 1 0 0 0 0 0 0 3
CDKN2A 0 3 0 0 0 0 0 0 0 0 0 3
DMD 3 0 0 0 0 0 0 0 0 0 0 3
EPCAM, LOC129933695, MSH2 2 0 1 0 0 0 0 0 0 0 0 3
ERBB3 0 3 0 0 0 0 0 0 0 0 0 3
FBXO11, KCNK12, MSH2, MSH2-OT1, MSH6 1 0 2 0 0 0 0 0 0 0 0 3
FLT1, LOC126861720 0 0 0 0 0 0 0 0 0 0 3 3
GNAS 0 3 0 0 0 0 0 0 0 0 0 3
GREM1 0 0 1 0 2 0 0 0 0 0 0 3
MT-CO1 3 0 0 0 0 0 0 0 0 0 0 3
MTOR 0 3 0 0 0 0 0 0 0 0 0 3
PMS1 1 0 1 1 0 0 0 0 0 0 0 3
PPP2R1A 0 3 0 0 0 0 0 0 0 0 0 3
RAD51D, RAD51L3-RFFL 1 1 1 0 0 0 0 0 0 0 0 3
RHOA 0 3 0 0 0 0 0 0 0 0 0 3
XPO1 0 3 0 0 0 0 0 0 0 0 0 3
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 1 0 0 0 0 0 0 0 0 2
AKT1 1 0 0 1 0 0 0 0 0 0 0 2
AREL1, MLH3 1 0 0 2 1 0 0 0 0 0 0 2
BAX 2 0 0 0 0 0 0 0 0 0 0 2
GALNT12 0 0 1 0 0 0 0 0 0 0 1 2
KCNK12, MSH2 0 0 1 1 0 0 0 0 0 0 0 2
LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH6 2 0 0 0 0 0 0 0 0 0 0 2
LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 1 0 0 0 0 0 0 0 0 2
LOC129936471, MLH1 1 0 1 0 0 0 0 0 0 0 0 2
MCC 2 0 0 0 0 0 0 0 0 0 0 2
MT-CYB 2 0 0 0 0 0 0 0 0 0 0 2
PIK3R1 1 1 0 0 0 0 0 0 0 0 0 2
PTPRJ 2 0 0 0 1 0 0 0 0 0 0 2
RAD51C 0 0 2 0 0 0 0 0 0 0 0 2
RAF1 0 2 0 0 0 0 0 0 0 0 0 2
RB1 1 1 0 0 0 0 0 0 0 0 0 2
SEMA4A 0 0 2 0 0 0 0 0 0 0 0 2
XRCC2 0 0 2 0 0 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 0 0 0 0 1
ADAR 0 0 0 0 0 0 0 1 0 0 0 1
AIMP2, CCZ1, EIF2AK1, OCM, PMS2, RSPH10B 1 0 0 0 0 0 0 0 0 0 0 1
AIMP2, EIF2AK1, PMS2 0 0 1 0 0 0 0 0 0 0 0 1
AKAP9 0 0 0 0 1 0 0 0 0 0 0 1
AKT2 0 1 0 0 0 0 0 0 0 0 0 1
AOPEP, FANCC 0 1 0 0 0 0 0 0 0 0 0 1
APC, LOC129994371 0 0 1 0 0 0 0 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 0 0 0 0 1
ARHGAP11A, CHRNA7, GOLGA8N, GOLGA8O, GREM1, RYR3, SCG5 0 0 1 0 0 0 0 0 0 0 0 1
ARHGAP11A-SCG5, GREM1, SCG5 0 0 1 0 0 0 0 0 0 0 0 1
ATE1, FGFR2, WDR11 0 0 1 0 0 0 0 0 0 0 0 1
AURKA 0 0 1 0 0 0 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 0 0 0 1
BCYRN1, EPCAM, KCNK12, MSH2, MSH2-OT1 1 0 0 0 0 0 0 0 0 0 0 1
BRCA1, LOC126862571 0 0 1 0 0 0 0 0 0 0 0 1
BRF1 0 1 0 0 0 0 0 0 0 0 0 1
BUB1B, LOC130056830 0 0 0 0 1 0 0 0 0 0 0 1
CCZ1, OCM, PMS2, RSPH10B 1 0 0 0 0 0 0 0 0 0 0 1
DLC1, LOC126860305 0 0 0 1 0 0 0 0 0 0 0 1
EPCAM, KCNK12, LOC122757938, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, MIR559, MSH2, MSH2-OT1, MSH6 0 0 1 0 0 0 0 0 0 0 0 1
EPCAM, STPG4 0 0 0 1 0 0 0 0 0 0 0 1
EPHB2 0 1 0 0 0 0 0 0 0 0 0 1
EPM2AIP1, LOC115995508, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, MLH1, TRANK1 1 0 0 0 0 0 0 0 0 0 0 1
FANCE 0 1 0 0 0 0 0 0 0 0 0 1
FANCI 0 1 0 0 0 0 0 0 0 0 0 1
FBXO11, LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 0 0 0 0 0 1
FGFR2 1 0 0 0 0 0 0 0 0 0 0 1
FZD3 1 0 0 0 0 0 0 0 0 0 0 1
GREM1, RYR3, SCG5 0 0 1 0 0 0 0 0 0 0 0 1
GSTP1 0 0 0 0 0 0 0 0 0 0 1 1
IGF2, INS-IGF2 1 0 0 0 0 0 0 0 0 0 0 1
KAT5 0 0 0 0 0 0 0 0 0 0 1 1
KCNB2 0 0 0 0 0 0 0 0 1 0 0 1
LOC126862278, RBFOX1 1 0 0 0 0 0 0 0 0 0 0 1
LOC129933706, LOC129933707, MSH6 0 0 1 0 0 0 0 0 0 0 0 1
LOC129936399, TGFBR2 0 0 1 0 0 0 0 0 0 0 0 1
LOC130009266, POLE 0 0 0 1 1 0 0 0 0 0 0 1
LOC130062899, STK11 0 0 0 1 0 0 0 0 0 0 0 1
MET 1 0 0 0 0 0 0 0 0 0 0 1
MRE11 1 0 0 0 0 0 0 0 0 0 0 1
MT-CO2 1 0 0 0 0 0 0 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 0 0 0 0 0 1
MUTYH, TOE1 0 0 0 1 0 0 0 0 0 0 0 1
MYO1B 1 0 0 0 0 0 0 0 0 0 0 1
NBN 0 0 1 0 0 0 0 0 0 0 0 1
NFE2L2 0 1 0 0 0 0 0 0 0 0 0 1
ORMDL1, PMS1 0 0 0 1 0 0 0 0 0 0 0 1
PDGFRA 0 0 0 0 1 0 0 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 0 0 0 1
PKHD1 1 0 0 0 0 0 0 0 0 0 0 1
PLA2G2A 1 0 0 0 0 0 0 0 0 0 0 1
PTPN12 1 0 0 0 0 0 0 0 0 0 0 1
RAD54B 1 0 0 0 0 0 0 0 0 0 0 1
RAD54L 1 0 0 0 0 0 0 0 0 0 0 1
RET 1 0 0 0 0 0 0 0 0 0 0 1
REV3L 0 1 0 0 0 0 0 0 0 0 0 1
RMI1 0 1 0 0 0 0 0 0 0 0 0 1
SGK2 0 1 0 0 0 0 0 0 0 0 0 1
SLC9A9 1 0 0 0 0 0 0 0 0 0 0 1
SOX9 1 0 0 0 0 0 0 0 0 0 0 1
TCERG1 1 0 0 0 0 0 0 0 0 0 0 1
TRIM28 0 0 0 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 134
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele protective risk factor other not provided total
Invitae 2904 388 8897 5729 686 0 0 0 0 0 0 18600
Myriad Genetics, Inc. 2483 540 262 205 176 0 0 0 0 0 0 3666
All of Us Research Program, National Institutes of Health 136 33 1753 765 26 0 0 0 0 0 0 2713
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1197 197 38 100 182 0 0 0 0 0 0 1714
Baylor Genetics 177 136 810 0 0 0 0 0 0 0 0 1123
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 0 0 0 0 1024 0 1024
Department of Pathology and Laboratory Medicine, Sinai Health System 319 41 216 149 77 0 1 0 0 0 0 802
Counsyl 63 48 474 192 21 0 0 0 0 0 0 798
Fulgent Genetics, Fulgent Genetics 94 31 444 152 26 0 0 0 0 0 0 747
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 289 191 7 2 47 0 0 0 0 0 0 536
Illumina Laboratory Services, Illumina 1 4 335 108 51 0 0 0 0 0 0 497
Mendelics 42 23 235 130 66 0 0 0 0 0 0 496
Database of Curated Mutations (DoCM) 62 355 0 0 0 0 0 0 0 0 5 421
University of Washington Department of Laboratory Medicine, University of Washington 55 38 126 46 6 0 0 0 0 0 0 270
KCCC/NGS Laboratory, Kuwait Cancer Control Center 11 2 20 65 125 0 0 0 0 0 0 223
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 113 82 1 0 0 0 0 0 1 0 1 198
OMIM 128 0 8 0 0 0 0 0 0 0 0 136
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 9 1 93 4 1 0 0 0 0 0 0 108
Pathway Genomics 18 5 18 9 24 0 0 0 0 0 0 74
MGZ Medical Genetics Center 27 16 28 0 0 0 0 0 0 0 0 71
CSER _CC_NCGL, University of Washington 2 3 45 11 1 0 0 0 0 0 0 62
Institute of Human Genetics, University of Leipzig Medical Center 25 14 19 3 1 0 0 0 0 0 0 62
Genomic Center, National Cancer Institute 50 2 10 0 0 0 0 0 0 0 0 62
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 9 0 1 7 41 0 0 0 0 0 0 58
Genetics and Molecular Pathology, SA Pathology 32 12 8 2 2 0 0 0 0 0 0 56
Ding PR Lab, Sun Yat-sen University Cancer Center 9 14 29 0 0 0 0 0 0 0 0 52
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 0 1 12 29 0 0 0 0 0 0 51
GeneReviews 1 0 0 0 0 0 0 0 0 0 49 50
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 4 28 8 1 0 0 0 0 0 0 47
Immunobiology Lab; University of Kashmir 0 0 35 0 0 0 0 0 0 0 10 45
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 13 27 0 0 0 0 0 0 43
3DMed Clinical Laboratory Inc 13 0 25 1 0 0 0 0 0 0 0 39
Neuberg Centre For Genomic Medicine, NCGM 11 6 22 0 0 0 0 0 0 0 0 39
Human Genetics Bochum, Ruhr University Bochum 22 12 3 1 0 0 0 0 0 0 0 38
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 27 8 2 0 0 0 0 0 0 0 0 37
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 8 18 0 0 0 0 0 0 0 0 36
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 33 33
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 26 1 5 0 0 0 0 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 0 0 31
Centre for Mendelian Genomics, University Medical Centre Ljubljana 13 5 10 0 0 0 0 0 0 0 0 28
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 13 11 0 0 0 0 0 0 0 0 0 24
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 2 13 1 1 0 0 0 0 0 0 21
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 1 14 0 0 0 0 0 0 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 20 20
Leiden Open Variation Database 1 0 19 0 0 0 0 0 0 0 0 20
Division of Medical Genetics, University of Washington 5 0 15 0 0 0 0 0 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 14 1 1 0 0 0 0 0 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 0 8 5 0 0 0 0 0 0 17
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 15 1 0 0 0 0 0 0 0 0 0 16
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 2 7 0 0 0 0 0 0 0 0 16
Genetics and Personalized Medicine Clinic, Tartu University Hospital 2 13 0 0 0 0 0 0 0 0 0 15
deCODE genetics, Amgen 4 10 0 0 0 0 0 0 0 0 0 14
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 10 3 1 0 0 0 0 0 0 0 0 14
Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease, Shanghai Jiao Tong University School of Medicine. 1 10 0 0 0 0 0 0 0 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 10 0 0 0 0 0 0 0 0 10
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 2 5 3 0 0 0 0 0 0 0 0 10
Johns Hopkins Genomics, Johns Hopkins University 2 0 2 4 0 0 0 0 0 0 0 8
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 6 1 1 0 0 0 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 3 2 0 1 0 0 0 0 0 0 7
Colorectal Cancer Research Lab, Singapore General Hospital 0 0 0 0 0 3 0 1 3 0 0 7
Genome Sciences Centre, British Columbia Cancer Agency 4 3 0 0 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 0 0 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 0 0 4 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 0 0 6
Institute of Human Genetics, University of Goettingen 2 0 3 0 0 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 1 2 2 0 0 0 0 0 0 0 0 5
IntelligeneCG 0 0 0 0 5 0 0 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 1 2 0 0 0 0 0 0 0 0 5
DASA 5 0 0 0 0 0 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 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 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 3 0 0 0 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 1 0 0 0 0 0 0 0 0 4
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 3 1 0 0 0 0 0 0 0 0 0 4
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 0 2 0 0 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 0 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 2 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 2 1 0 0 0 0 0 0 0 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 1 2 0 0 0 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 1 0 0 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 1 0 0 0 0 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 2 1 0 0 0 0 0 0 0 0 3
University Health Network, Princess Margaret Cancer Centre 3 0 0 0 0 0 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 2 1 0 0 0 0 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 3 0 0 0 0 0 0 0 0 0 0 3
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center 3 0 0 0 0 0 0 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 3 0 0 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 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 0 0 2 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 0 0 0 0 0 2
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 2 0 0 0 0 0 0 0 0 0 2
Human Genetics Unit, University Of Colombo 2 0 0 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 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 0 0 0 0 2
Snyder Lab, Genetics Department, Stanford University 1 0 0 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 0 0 2
Center for Studies on Hereditary Cancer, University of Bologna 1 0 1 0 0 0 0 0 0 0 0 2
Cancer Genetics Service, National Cancer Centre Singapore 0 0 2 0 0 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 1 0 0 0 0 0 0 0 0 2
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 2 0 0 0 0 0 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 2 0 0 0 0 0 0 0 0 0 2
Cancer Genome Medicine, Jichi Medical University 2 0 0 0 0 0 0 0 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 0 0 0 1
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 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 0 0 1
GeneKor MSA 1 0 0 0 0 0 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 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 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 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 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 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 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 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 0 0 1
Biologie des Tumeurs Solides, CHU de Montpellier 1 0 0 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 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 0 0 0 1
MNM Diagnostics 0 1 0 0 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 0 0 1
3billion 1 0 0 0 0 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 0 0 0 0 1
Genetica Molecular, Fundacion para el Progreso de la Medicina 0 1 0 0 0 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 0 0 0 0 1

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