ClinVar Miner

Variants studied for astrocytoma (excluding glioblastoma)

Included ClinVar conditions (11):
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 total
7 16 15 0 0 37

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
FGFR1 0 5 3 7
IDH1 0 3 0 3
PTPN11 0 3 0 3
TP53 2 0 1 3
​intergenic 0 1 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, C7orf76, CACNA2D1, CADPS2, CALCR, CALD1, CALN1, CALU, CAMK2B, CAPZA2, CASD1, CASTOR2, 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, ELAPOR2, ELMO1, ELN, EPDR1, EPHB4, EPO, ERV3-1, ERVW-1, ETV1, EVX1, EXOC4, FAM133B, FAM180A, FAM185A, FAM200A, FAM221A, FAM3C, FBXL13, FBXO24, FERD3L, FEZF1, FGL2, FIGNL1, FIS1, FKBP14, FKBP6, FKBP9, FLNC, FMC1, FMC1-LUC7L2, FOXP2, FSCN3, FZD1, FZD9, GAL3ST4, GALNT17, GARIN1A, GARIN1B, 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, HSPB1, HUS1, HYAL4, HYCC1, IFRD1, IFT22, IFT56, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IMMP2L, IMPDH1, ING3, INHBA, INMT, IQUB, IRF5, ITGB8, ITPRID1, JAZF1, KBTBD2, KCND2, KCP, KCTD7, KDM7A, KIAA1549, KLF14, KLHDC10, KLHL7, KLHL7-DT, KLRG2, KMT2E, KPNA7, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LEP, LHFPL3, LIMK1, LINC02860, LINC02902, LINC02903, LMOD2, LMTK2, LOC101928861, LRCH4, LRGUK, LRRC17, LRRC4, LRRC72, LRRD1, LRRN3, LRWD1, LSM5, LSM8, LSMEM1, LUC7L2, LUZP6, MACC1, MAGI2, MALSU1, MATCAP2, 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, 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, PALS2, PARP12, PAX4, PCLO, PCOLCE, PDAP1, PDE1C, PDK4, PEG10, PEX1, PGAM2, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLEKHA8, PLOD3, PLXNA4, PMPCB, PNPLA8, PODXL, POLD2, POLM, POLR1F, 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, SPACDR, 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, TRAPPC14, TRIL, TRIM24, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRRAP, TSC22D4, TSGA13, TSPAN12, TSPAN13, TSPAN33, TWIST1, 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 1
ARID1A 0 0 1 1
ARID1B 0 0 1 1
ATRX 1 0 0 1
BAP1 0 1 0 1
CACNA1A 0 0 1 1
CHEK2 0 0 1 1
CPLANE1 0 0 1 1
DICER1 0 0 1 1
EPHA5 0 0 1 1
FLCN 0 1 0 1
H3-3A 0 1 0 1
KMT2D 0 0 1 1
KRAS 1 0 0 1
NF1 1 0 0 1
PALB2 0 0 1 1
POT1 0 1 0 1
RET 0 0 1 1
SDHA 1 0 0 1
TSC1 0 0 1 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance total
Database of Curated Mutations (DoCM) 0 12 0 12
Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston 0 1 5 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 1 2 6
Yale Center for Mendelian Genomics, Yale University 0 0 2 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 1 2
Tampere Brain Tumor Research Consortium, University of Tampere 2 0 0 2
OMIM 1 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1

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