ClinVar Miner

Variants studied for astrocytic tumor

Included ClinVar conditions (14):
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 risk factor other not provided total
29 233 49 0 1 2 3 2 317

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign risk factor other not provided total
TP53 2 120 1 0 0 0 0 121
BRCA2 20 0 33 1 2 0 0 56
PIK3CA 0 45 0 0 0 0 0 45
EGFR 0 11 0 0 0 0 0 11
MTOR 0 7 0 0 0 0 0 7
PTEN 0 5 0 0 0 0 1 6
BRAF 0 5 0 0 0 0 0 5
FBXW7 0 5 0 0 0 0 0 5
FGFR1 0 5 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 5
NRAS 0 5 0 0 0 0 0 5
CREBBP 0 4 0 0 0 0 0 4
PTPN11 0 3 1 0 0 0 0 4
H3-3A 0 2 0 0 0 1 0 3
HRAS, LRRC56 0 3 0 0 0 0 0 3
​intergenic 0 1 0 0 0 0 0 1
AASS, ABCA13, ABCB1, ABCB4, ABCB5, ABHD11, ACHE, ACTL6B, ADAM22, ADCK2, ADCY1, ADCYAP1R1, AEBP1, AGBL3, AGFG2, AGMO, AGR2, AGR3, AHCYL2, AHR, AKAP9, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ALKBH4, AMPH, ANKIB1, ANKMY2, ANKRD7, ANLN, AOAH, AP1S1, AP4M1, AQP1, ARF5, ARL4A, ARMC10, ARPC1A, ARPC1B, ASB15, ASB4, ASL, ASNS, ASZ1, ATP5MF, ATP5MF-PTCD1, ATP6V0A4, ATP6V1F, ATXN7L1, AUTS2, AVL9, AZGP1, BAIAP2L1, BAZ1B, BBS9, BCAP29, BCL7B, BET1, BHLHA15, BLVRA, BMPER, BMT2, BPGM, BRAF, BRI3, BUD23, BUD31, BZW2, C7orf25, C7orf31, C7orf57, C7orf61, C7orf65, C7orf66, C7orf69, C7orf76, CACNA2D1, CADPS2, CALCR, CALD1, CALN1, CALU, CAMK2B, CAPZA2, CASD1, CASTOR2, CASTOR3, CAV1, CAV2, CBLL1, CBX3, CCDC126, CCDC136, CCDC146, CCDC71L, CCL24, CCL26, CCM2, CCT6A, CD36, CDCA7L, CDHR3, CDK13, CDK14, CDK6, CEP41, CFAP69, CFTR, CHCHD2, CHCHD3, CHN2, CHRM2, CLDN12, CLDN15, CLDN3, CLDN4, CLEC2L, CLIP2, CNOT4, CNPY4, COA1, COBL, COG5, COL1A2, COL26A1, COPG2, COPS6, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CPVL, CRCP, CREB3L2, CREB5, CRHR2, CROT, CRPPA, CTTNBP2, CUX1, CYCS, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP51A1, CYREN, DBF4, DBNL, DDC, DDX56, DENND2A, DGKB, DGKI, DLD, DLX5, DLX6, DMTF1, DNAH11, DNAJB9, DNAJC2, DNAJC30, DOCK4, DPY19L1, DTX2, DUS4L, DYNC1I1, EEPD1, EGFR, EIF4H, ELMO1, ELN, EPDR1, EPHB4, EPO, ERV3-1, ERVW-1, ETV1, EVX1, EXOC4, FAM126A, FAM133B, FAM180A, FAM185A, FAM200A, FAM221A, FAM3C, FAM71F1, FAM71F2, FBXL13, FBXO24, FERD3L, FEZF1, FGL2, FIGNL1, FIS1, FKBP14, FKBP6, FKBP9, FLNC, FMC1, FMC1-LUC7L2, FOXP2, FSCN3, FZD1, FZD9, GAL3ST4, GALNT17, GARS1, GATAD1, GCC1, GCK, GGCT, GHRHR, GIGYF1, GJC3, GLI3, GNAI1, GNAT3, GNB2, GNG11, GNGT1, GPC2, GPNMB, GPR141, GPR22, GPR37, GPR85, GRB10, GRM3, GRM8, GSAP, GSDME, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, H2AZ2, HBP1, HDAC9, HECW1, HECW1-IT1, HEPACAM2, HERPUD2, HGF, HIBADH, HILPDA, HIP1, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HPVC1, HSPB1, HUS1, HYAL4, IFRD1, IFT22, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IMMP2L, IMPDH1, ING3, INHBA, INMT, IQUB, IRF5, ITGB8, ITPRID1, JAZF1, KBTBD2, KCND2, KCP, KCTD7, KDM7A, KIAA0895, KIAA1324L, KIAA1549, KLF14, KLHDC10, KLHL7, KLHL7-DT, KLRG2, KMT2E, KPNA7, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LEP, LHFPL3, LIMK1, LINC00972, LINC02860, LMOD2, LMTK2, LOC101928861, LRCH4, LRGUK, LRRC17, LRRC4, LRRC72, LRRD1, LRRN3, LRWD1, LSM5, LSM8, LSMEM1, LUC7L2, LUZP6, MACC1, MAGI2, MALSU1, MAP11, MBLAC1, MCM7, MDFIC, MDH2, MEOX2, MEPCE, MEST, MESTIT1, MET, METTL27, METTL2B, MINDY4, MIR106B, MIR148A, MIR182, MIR183, MIR196B, MIR25, MIR29A, MIR29B1, MIR335, MIR489, MIR590, MIR93, MIR96, MKLN1, MKRN1, MLXIPL, MOGAT3, MOSPD3, MPLKIP, MPP6, MRPL32, MRPS17, MRPS24, MTERF1, MTPN, MTURN, MUC12, MUC17, MUC3A, MYL10, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCF1, NDUFA5, NDUFB2, NEUROD6, NFE2L3, NFE4, NIPSNAP2, NME8, NOD1, NPC1L1, NPSR1, NPTX2, NPVF, NPY, NRCAM, NRF1, NSUN5, NT5C3A, NUDCD3, NUP205, NUP42, NUPR2, NYAP1, OCM2, OGDH, OPN1SW, OR2AE1, ORAI2, ORC5, OSBPL3, PARP12, PAX4, PCLO, PCOLCE, PDAP1, PDE1C, PDK4, PEG10, PEX1, PGAM2, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLEKHA8, PLOD3, PLXNA4, PMPCB, PNPLA8, PODXL, POLD2, POLM, POLR2J, POLR2J2, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POP7, POR, POT1, POU6F2, PPIA, PPP1R17, PPP1R35, PPP1R3A, PPP1R9A, PRKAR2B, PRKRIP1, PRPS1L1, PRR15, PRRT4, PSMA2, PSMC2, PSPH, PTCD1, PTN, PTPN12, PTPRZ1, PURB, PUS7, PVRIG, RAB19, RABGEF1, RALA, RAMP3, RAPGEF5, RASA4, RASA4B, RBM28, RBM48, RCC1L, RELN, RFC2, RHBDD2, RINT1, RNF133, RNF148, RNU2-1, RP9, RSBN1L, RUNDC3B, SAMD9, SAMD9L, SAP25, SBDS, SCIN, SCRN1, SDHAF3, SEC61G, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPTIN14, SEPTIN7, SERPINE1, SFRP4, SGCE, SH2B2, SKAP2, SLC12A9, SLC13A1, SLC13A4, SLC25A13, SLC25A40, SLC26A3, SLC26A4, SLC26A5, SLC35B4, SLC37A3, SMKR1, SMO, SMURF1, SND1, SNHG15, SNORA5C, SNX10, SNX13, SOSTDC1, SP4, SP8, SPAM1, SPATA48, SPDYE1, SPDYE2, SPDYE2B, SPDYE3, SPDYE5, SPDYE6, SRI, SRPK2, SRRM3, SRRT, SSC4D, SSMEM1, ST7, ST7-OT3, ST7-OT4, STAG3, STARD3NL, STEAP1, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STMP1, STRA8, STRIP2, STX1A, STYXL1, SUGCT, SUMF2, SUN3, SVOPL, SYPL1, TAC1, TAF6, TARP, TAS2R16, TAX1BP1, TBL2, TBRG4, TBX20, TBXAS1, TECPR1, TES, TEX47, TFEC, TFPI2, TFR2, THAP5, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM168, TMEM196, TMEM209, TMEM213, TMEM229A, TMEM243, TMEM248, TMEM270, TMEM60, TNPO3, TNS3, TOMM7, TPST1, TRA2A, TRIL, TRIM24, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRRAP, TSC22D4, TSGA13, TSPAN12, TSPAN13, TSPAN33, TTC26, TWIST1, TWISTNB, TYW1, TYW1B, UBE2D4, UBE2H, UBN2, UFSP1, UPK3BL1, UPP1, URGCP, VGF, VKORC1L1, VOPP1, VPS37D, VPS41, VPS50, VSTM2A, VWC2, VWDE, WASL, WDR91, WIPF3, WNT16, WNT2, YAE1, YKT6, YWHAG, ZAN, ZASP, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZKSCAN1, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF273, ZNF277, ZNF3, ZNF394, ZNF479, ZNF655, ZNF679, ZNF680, ZNF713, ZNF716, ZNF727, ZNF735, ZNF736, ZNF789, ZNF800, ZNF804B, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZSCAN21, ZSCAN25 1 0 0 0 0 0 0 1
ALK 0 0 1 0 0 0 0 1
APC 0 0 1 0 0 0 0 1
ARID1A 0 0 1 0 0 0 0 1
ARID1B 0 0 1 0 0 0 0 1
ATM, C11orf65 0 1 0 0 0 0 0 1
ATRX 1 0 0 0 0 0 0 1
BCOR 0 0 0 0 0 1 0 1
CACNA1A 0 0 1 0 0 0 0 1
CHEK2 0 0 1 0 0 0 0 1
DICER1 0 0 1 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 0 1
EPHA5 0 0 1 0 0 0 0 1
FLCN 0 1 0 0 0 0 0 1
KMT2D 0 0 1 0 0 0 0 1
KRAS 1 0 0 0 0 0 0 1
MED12 0 0 0 0 0 1 0 1
MGMT 0 0 0 0 0 0 1 1
MSH2 1 0 0 0 0 0 0 1
MSH6 0 0 1 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 1
NF1 1 0 0 0 0 0 0 1
PALB2 0 0 1 0 0 0 0 1
PIK3R1 0 1 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 1
POLE 0 1 0 0 0 0 0 1
RET 0 0 1 0 0 0 0 1
RUNX1 0 0 1 0 0 0 0 1
SDHA 1 0 0 0 0 0 0 1
SLX4 0 1 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance benign risk factor other not provided total
Database of Curated Mutations (DoCM) 0 228 0 0 0 0 2 230
Fulgent Genetics,Fulgent Genetics 20 0 32 1 0 0 0 53
Clinical Genomics Lab,St. Jude Children's Research Hospital 5 3 8 0 0 0 0 16
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 1 5 0 0 0 0 6
OMIM 1 0 0 0 2 0 0 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 3 0 3
Tampere Brain Tumor Research Consortium,University of Tampere 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 1 0 0 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Murat Gunel Laboratory,Yale University 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1

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