ClinVar Miner

Variants studied for central nervous system neoplasm

Included ClinVar conditions (109):
Minimum submission review status: Collection method:
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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 affects association risk factor other not provided total
890 880 5785 4513 301 1 9 8 19 78 12279

Gene and significance breakdown #

Total genes and gene combinations: 159
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor other not provided total
SMARCA4 120 56 2041 2261 115 0 0 0 1 1 4563
SDHA 159 87 1246 808 53 0 0 0 0 9 2301
SDHB 168 66 511 318 20 0 0 0 0 1 1054
SUFU 51 19 532 439 22 0 0 1 0 0 1049
SMARCE1 24 12 387 264 13 0 0 4 0 0 702
SDHC 61 27 313 207 6 0 0 0 0 0 606
CDH23 46 145 108 12 11 0 0 0 0 0 319
TP53 18 196 7 5 2 0 0 0 0 0 219
BRCA2 66 4 71 26 17 0 0 2 0 1 185
ELP1 6 14 113 35 1 0 0 0 0 0 168
AIP 9 9 63 11 15 0 0 0 0 49 137
LOC130004614, SUFU 12 0 74 34 3 0 0 0 0 0 120
NF2 3 1 73 3 0 0 0 0 1 0 80
SDHAF2 4 12 42 4 1 0 0 0 0 2 63
SDHD 32 10 15 1 5 0 0 0 0 0 61
LOC129929542, SDHB 6 1 27 26 0 0 0 0 0 0 60
GNAS 12 0 11 33 2 0 0 0 0 0 57
PIK3CA 0 47 0 0 0 0 0 0 0 0 47
PTEN 14 16 15 2 1 0 0 0 0 1 46
C10orf105, CDH23 7 15 9 0 2 0 0 0 0 0 33
AIP, LOC130006206 0 0 20 1 4 0 0 0 0 9 31
CTNNB1, LOC126806658 2 23 0 1 0 0 0 0 3 0 25
ALK 0 3 13 1 0 0 0 0 0 0 17
EGFR 0 13 0 0 0 0 0 0 0 0 13
LOC126861339, SDHD 10 1 1 0 1 0 0 0 0 0 13
LOC129929541, SDHB 3 0 1 9 0 0 0 0 0 0 13
PTCH2 1 0 6 4 1 0 0 0 0 0 12
DICER1 6 1 3 0 0 0 0 0 0 0 10
FBXW7 0 10 0 0 0 0 0 0 0 0 10
GPR161 1 0 8 0 1 0 0 0 0 0 10
NF1 5 1 3 0 0 0 0 0 0 0 9
BRAF 0 8 0 0 0 0 0 0 0 0 8
NRAS 0 8 0 0 0 0 0 0 0 0 8
CDH23, LOC111982869 3 3 1 0 0 0 0 0 0 0 7
MEN1 1 2 0 1 3 0 0 0 0 0 7
MTOR 0 7 0 0 0 0 0 0 0 0 7
IDH1 0 5 1 0 0 0 0 0 0 1 6
KLLN, PTEN 0 0 6 0 0 0 0 0 0 0 6
USP8 5 0 1 0 0 0 0 0 0 0 6
FGFR1 0 5 0 0 0 0 0 0 0 0 5
SLC25A11 5 0 0 0 0 0 0 0 0 0 5
ACVR1 0 4 0 0 0 0 0 0 0 0 4
CLDN14 0 0 2 0 0 0 2 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 0 4
CTNNB1, LOC126806659 2 0 1 1 0 0 0 0 0 0 4
IDH2 0 4 0 0 0 0 0 0 0 0 4
LOC129929541, LOC129929542, SDHB 2 0 2 0 0 0 0 0 0 0 4
LOC130004273, PTEN 0 0 3 1 0 0 0 0 0 0 4
DDX3X 0 0 0 0 0 0 0 0 3 0 3
H3-3A 0 2 0 0 0 0 0 0 1 0 3
HRAS, LRRC56 0 3 0 0 0 0 0 0 0 0 3
KLLN, LOC130004273, PTEN 0 0 2 1 0 0 0 0 0 0 3
POLE 0 1 2 0 0 0 0 0 0 0 3
PTPN11 0 3 0 0 0 0 0 0 0 0 3
SMARCB1 1 0 2 0 0 0 0 0 0 0 3
​intergenic 1 1 0 0 0 0 0 0 0 0 2
ALG9, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, SDHD, SIK2, TIMM8B 1 0 1 0 0 0 0 0 0 0 2
APC 1 0 1 0 0 0 0 0 0 0 2
ARL3, CYP17A1, SFXN2, SUFU, TRIM8, WBP1L 1 0 1 0 0 0 0 0 0 0 2
ATM, C11orf65 1 1 0 0 0 0 0 0 0 0 2
ATRX 1 0 1 0 0 0 0 0 0 0 2
CIC 0 2 0 0 0 0 0 0 0 0 2
CTNNB1 0 0 0 2 0 0 0 0 0 0 2
DLST 1 0 1 0 0 0 0 0 0 0 2
EP300 0 2 0 0 0 0 0 0 0 0 2
EPHB4 0 0 0 0 0 0 2 0 0 0 2
FANCA 0 0 2 0 0 0 0 0 0 0 2
FOXO3 0 0 0 0 0 0 0 0 2 0 2
GNAI2 1 0 1 0 0 0 0 0 0 0 2
GPR101 2 0 1 0 0 0 0 0 0 2 2
H3C11 0 2 0 0 0 0 0 0 0 0 2
KEL 0 0 0 0 0 0 2 0 0 0 2
KMT2D 0 1 0 0 0 0 1 0 0 0 2
LOC129929542, LOC129929543, SDHB 2 0 0 0 0 0 0 0 0 0 2
LOC130063552, LOC130063553, LOC130063554, LOC130063555, SMARCA4 1 0 1 0 0 0 0 0 0 0 2
MN1 0 1 1 0 0 0 0 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 0 0 0 0 2
MSH2 1 0 1 0 0 0 0 0 0 0 2
PALB2 0 0 2 0 0 0 0 0 0 0 2
PCSK7 0 0 2 0 0 0 0 0 0 0 2
PDGFB 1 0 1 0 0 0 0 0 0 0 2
PIK3R1 0 2 0 0 0 0 0 0 0 0 2
PMS2 0 1 1 0 0 0 0 0 0 0 2
RET 0 0 2 0 0 0 0 0 0 0 2
TSC1 0 0 2 0 0 0 0 0 0 0 2
ABCB10, ABL2, ACBD3, ACBD6, ACKR1, ACP6, ACTA1, ACTN2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, BGLAP, BLZF1, BNIPL, BOLA1, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf105, C1orf115, C1orf116, C1orf131, C1orf198, C1orf21, C1orf226, C1orf35, C1orf43, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN8, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DYRK3, ECM1, EDARADD, EDEM3, EFCAB2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, ELF3, ELK4, ENAH, ENSA, ENTREP3, EPHX1, EPRS1, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GABPB2, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, GLUL, GNG4, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IGFN1, IGSF8, IGSF9, IKBKE, IL10, IL19, IL20, IL24, IL6R, ILDR2, ILF2, INAVA, INSRR, INTS3, INTS7, IPO9, IQGAP3, IRF2BP2, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LGALS8, LGR6, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LIX1L, LMNA, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LPGAT1, LRRC52, LRRC71, LRRN2, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, MRPS21, MSTO1, MT1HL1, MTARC1, MTARC2, MTMR11, MTR, MTX1, MUC1, MYBPH, MYOC, MYOG, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NCF2, NCSTN, NDUFS2, NECTIN4, NEK2, NEK7, NENF, NES, NFASC, NHLH1, NIBAN1, NID1, NIT1, NLRP3, NME7, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PACC1, PAPPA2, PAQR6, PARP1, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PDE4DIP, PDZK1, PEA15, PEAR1, PEX11B, PEX19, PFDN2, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PI4KB, PIAS3, PIGC, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, PTPN7, PTPRC, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3GAP2, RAB4A, RABGAP1L, RABIF, RALGPS2, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCCPDH, SCNM1, SCYL3, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SERTAD4, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNRPE, SNX27, SOAT1, SOX13, SPATA17, SPATA45, SPATA46, SPHAR, SPMIP3, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TMEM63A, TMEM79, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18, ZBTB37, ZBTB41, ZBTB7B, ZC3H11A, ZNF124, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, ZNF687, ZNF695, ZP4 0 0 1 0 0 0 0 0 0 0 1
ACRBP 0 0 0 0 0 0 0 1 0 0 1
ACTR1A, ARL3, AS3MT, ATP5MK, BORCS7, BORCS7-ASMT, C10orf95, CALHM1, CALHM2, CALHM3, CFAP43, CFAP58, CFAP58-DT, CNNM2, COL17A1, CYP17A1, GSTO1, GSTO2, INA, ITPRIP, LINC02620, LOC107984265, LOC110408762, LOC111501773, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC116216120, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121815965, LOC121815966, LOC121815967, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC128772341, LOC129390226, LOC130004609, LOC130004610, LOC130004611, LOC130004612, LOC130004613, LOC130004614, LOC130004615, LOC130004616, LOC130004617, LOC130004618, LOC130004619, LOC130004620, LOC130004621, LOC130004622, LOC130004623, LOC130004624, LOC130004625, LOC130004626, LOC130004627, LOC130004628, LOC130004629, LOC130004630, LOC130004631, LOC130004632, LOC130004633, LOC130004634, LOC130004635, LOC130004636, LOC130004637, LOC130004638, LOC130004639, LOC130004640, LOC130004641, LOC130004642, LOC130004643, LOC130004644, LOC130004645, LOC130004646, LOC130004647, LOC130004648, LOC130004649, LOC130004650, LOC130004651, LOC130004652, LOC130004653, LOC130004654, LOC130004655, LOC130004656, LOC130004657, LOC130004658, LOC130004659, LOC130004660, LOC130004661, LOC130004662, LOC130004663, LOC130004664, LOC130004665, LOC130004666, LOC130004667, LOC130004668, LOC130004669, LOC130004670, MFSD13A, MIR1307, MIR4482, MIR609, MIR936, NEURL1, NT5C2, PCGF6, PDCD11, RPEL1, SFR1, SFXN2, SH3PXD2A, SLK, SORCS3, STN1, SUFU, TAF5, TRIM8, TRIM8-DT, WBP1L 1 0 0 0 0 0 0 0 0 0 1
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LOC101928372, LOC112543491, LOC122128457, LOC122128458, LOC122128459, LOC126805893, LOC126805894, LOC129388615, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LY9, MIR5187, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 0 0 0 0 1
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LY9, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 0 0 0 0 1
AIP, LOC130006204 0 1 0 0 0 0 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 0 0 0 1
ALX4 0 0 1 0 0 0 0 0 0 0 1
ANGPTL8, DOCK6, KANK2, LDLR, SMARCA4, SPC24 0 0 1 0 0 0 0 0 0 0 1
ANK3 1 0 0 0 0 0 0 0 0 0 1
AP1B1, ASCC2, CABP7, CASTOR1, CCDC157, DUSP18, EWSR1, GAL3ST1, GAS2L1, HORMAD2, INPP5J, LIF, LIMK2, MORC2, MTFP1, MTMR3, NEFH, NF2, NIPSNAP1, OSBP2, OSM, PATZ1, PES1, PIK3IP1, PLA2G3, RASL10A, RFPL1, RFPL1S, RNF185, RNF215, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SF3A1, SLC35E4, SMTN, TBC1D10A, TCN2, THOC5, TUG1, UQCR10, ZMAT5 0 1 0 0 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 0 0 0 1 0 1
ARID1B 0 0 0 0 0 0 0 0 1 0 1
ARID2 1 0 0 0 0 0 0 0 0 0 1
ATM 0 0 1 0 0 0 0 0 0 0 1
BAP1 0 0 1 0 0 0 0 0 0 0 1
BCOR 0 0 0 0 0 0 0 0 1 0 1
BRD7, LOC126862343 0 1 0 0 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 0 0 0 0 1
CDK4, TSPAN31 0 0 1 0 0 0 0 0 0 0 1
CFAP126, SDHC 1 0 0 0 0 0 0 0 0 0 1
CHD6 0 0 1 0 0 0 0 0 0 0 1
CNTNAP3, NTRK2 0 0 1 0 0 0 0 0 0 0 1
CTCF 1 0 0 0 0 0 0 0 0 0 1
DDX46 0 0 1 0 0 0 0 0 0 0 1
DHFR, MSH3 0 0 1 0 0 0 0 0 0 0 1
DNMT1 0 1 0 0 0 0 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 0 0 0 0 1
FGFR2, ZNF135 0 0 1 0 0 0 0 0 0 0 1
FGFR3 0 0 1 0 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 0 0 1
IQCJ-SCHIP1, SCHIP1 0 1 0 0 0 0 0 0 0 0 1
KAT6A 0 0 0 0 0 0 1 0 0 0 1
KDM5B 0 0 1 0 0 0 0 0 0 0 1
KIF1B, LOC126805614 0 0 1 0 0 0 0 0 0 0 1
KIF5C, NTRK3 0 0 1 0 0 0 0 0 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 0 0 1
LOC124416895, LOC130004614, LOC130004615, LOC130004616, SUFU 1 0 0 0 0 0 0 0 0 0 1
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 0 0 1
LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 0 0 0 0 1
LOC130004274, PTEN 0 0 1 0 0 0 0 0 0 0 1
LOC130067016, LZTR1 0 1 0 0 0 0 0 0 0 0 1
LRP2 0 1 0 0 0 0 0 0 0 0 1
LZTR1 0 1 0 0 0 0 0 0 0 0 1
MED12 0 0 0 0 0 0 0 0 1 0 1
MGMT 0 0 0 0 0 0 0 0 0 1 1
MSH6 0 0 0 0 0 1 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 0 0 0 1
NBN 0 0 1 0 0 0 0 0 0 0 1
NONO 0 0 0 0 0 0 0 0 1 0 1
NSD1 0 0 0 0 0 0 0 0 1 0 1
POT1 0 1 0 0 0 0 0 0 0 0 1
PRKAR1A 0 0 0 0 0 0 0 0 1 0 1
PTCH1 0 0 1 0 0 0 0 0 0 0 1
RAD51B 0 0 1 0 0 0 0 0 0 0 1
RB1 0 0 1 0 0 0 0 0 0 0 1
RNF213 0 0 0 0 0 0 0 0 1 0 1
RUNX1 0 0 1 0 0 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 0 0 0 1
SLX4 0 1 0 0 0 0 0 0 0 0 1
SMARCA2 0 0 0 0 0 0 1 0 0 0 1
SMO 1 0 0 0 0 0 0 0 0 0 1
STK11 0 0 0 1 0 0 0 0 0 0 1
TSC2 0 0 0 0 0 0 0 0 0 1 1
TUBB4A 0 0 1 0 0 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 0 0 0 1
WRN 0 1 0 0 0 0 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 98
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 574 187 5002 4308 216 0 0 0 0 0 10287
Fulgent Genetics, Fulgent Genetics 114 34 431 157 32 0 0 0 0 0 768
Baylor Genetics 58 180 518 0 0 0 0 0 0 0 756
Database of Curated Mutations (DoCM) 1 361 0 0 0 0 0 0 0 3 364
Myriad Genetics, Inc. 118 51 39 10 3 0 0 0 0 0 221
Illumina Laboratory Services, Illumina 2 2 73 31 27 0 0 0 0 0 135
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 14 8 96 4 0 0 0 0 0 0 122
OMIM 101 0 0 0 0 0 0 7 0 0 106
Counsyl 2 7 55 16 3 0 0 0 0 0 83
GeneReviews 0 8 0 1 0 0 0 0 0 62 71
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 3 0 13 48 0 0 0 0 0 65
Color Diagnostics, LLC DBA Color Health 12 6 4 4 17 0 0 0 0 0 43
Centre for Mendelian Genomics, University Medical Centre Ljubljana 11 3 18 0 0 0 0 0 0 0 32
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 6 23 0 0 0 0 0 0 0 29
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 19 0 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 14 2 1 0 0 0 0 0 0 0 17
Mendelics 2 1 5 4 2 0 0 0 0 0 14
Genome-Nilou Lab 0 0 0 0 14 0 0 0 0 0 14
MGZ Medical Genetics Center 8 3 1 0 0 0 0 0 0 0 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 6 1 0 0 0 0 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 6 3 1 0 0 0 0 0 0 0 10
Genome Sciences Centre, British Columbia Cancer Agency 0 6 3 0 0 0 0 0 0 0 9
Yale Center for Mendelian Genomics, Yale University 0 0 0 0 0 0 9 0 0 0 9
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 7 2 0 0 0 0 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 9 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 1 1 1 0 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 4 2 0 0 0 0 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 1 0 4 0 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 5 0 1 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 4 1 0 0 0 0 0 0 0 6
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 0 1 5 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 0 0 0 0 0 0 0 0 0 5
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 3 1 0 1 1 0 0 0 0 0 5
3billion 1 2 1 1 0 0 0 0 0 0 5
Aziz Sancar Institute of Experimental Medicine, Istanbul University 2 2 0 0 0 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 1 0 0 0 0 0 0 0 4
M.M. Shemyakin and Yu.A. Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Science 0 0 4 0 0 0 0 0 0 0 4
Laboratory of Neurooncology, Almazov National Medical Research Centre 3 0 1 0 0 0 0 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 3 0 0 0 0 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 1 0 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 0 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 0 0 2
Korbonits Lab, Queen Mary University of London 0 1 1 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 1 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 0 0 0 2
Tampere Brain Tumor Research Consortium, University of Tampere 2 0 0 0 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 0 0 0 0 2
Cancer Genomics Laboratory, Texas Children's Hospital 1 0 0 0 0 1 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 0 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 0 0 0 2
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 0 1
Center for Personalized Medicine, Roswell Park Cancer Institute 0 1 0 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 1 0 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 0 1
Genetics, Medical University of Vienna 0 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 0 0 0 1
Murat Gunel Laboratory, Yale University 0 1 0 0 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 1 0 0 0 0 0 0 0 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 1 0 0 0 0 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 0 1
Department of Neurosurgery, Guangxi Colleges and Universities Key Laboratory of Preclinical Medicine Research 0 0 0 0 0 0 0 1 0 0 1
Suma Genomics, Suma Genomics 1 0 0 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 0 0 0 0 1

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