ClinVar Miner

Variants studied for autonomic nervous system neoplasm

Included ClinVar conditions (27):
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 not provided total
448 197 2148 1373 88 12 4166

Gene and significance breakdown #

Total genes and gene combinations: 23
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHA 156 85 1246 808 53 9 2298
SDHB 166 63 508 318 20 1 1047
SDHC 59 27 310 207 6 0 601
LOC129929542, SDHB 6 1 27 26 0 0 60
SDHD 31 10 15 1 5 0 60
SDHAF2 4 10 31 4 1 2 50
LOC126861339, SDHD 10 1 1 0 1 0 13
LOC129929541, SDHB 3 0 1 9 0 0 13
SLC25A11 5 0 0 0 0 0 5
LOC129929541, LOC129929542, SDHB 2 0 2 0 0 0 4
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 2
DLST 1 0 1 0 0 0 2
LOC129929542, LOC129929543, SDHB 2 0 0 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 2
​intergenic 1 0 0 0 0 0 1
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 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 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 1
CFAP126, SDHC 1 0 0 0 0 0 1
DDX46 0 0 1 0 0 0 1
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 1
LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 377 117 2070 1348 72 0 3984
Myriad Genetics, Inc. 110 49 39 10 3 0 211
Fulgent Genetics, Fulgent Genetics 12 10 70 13 1 0 106
Counsyl 2 7 55 16 3 0 83
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 2 0 13 40 0 56
OMIM 53 0 0 0 0 0 53
Color Diagnostics, LLC DBA Color Health 12 6 4 4 17 0 43
Baylor Genetics 1 6 30 0 0 0 37
Center for Human Genetics, Inc, Center for Human Genetics, Inc 14 2 1 0 0 0 17
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 15 0 0 0 17
MGZ Medical Genetics Center 8 2 1 0 0 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 6 1 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 1 0 4 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 2 1 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 4 1 1 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 3 1 0 0 0 5
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 3 1 0 1 1 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 1 0 0 0 4
3billion 1 2 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 0 1 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 1 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Illumina Laboratory Services, Illumina 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
deCODE genetics, Amgen 0 2 0 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics, Medical University of Vienna 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 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.