ClinVar Miner

Variants studied for autonomic nervous system disease

Included ClinVar conditions (28):
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
323 132 2006 673 186 1 3268

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHA 72 34 775 284 25 0 1170
SDHB 106 39 340 103 10 1 589
PHOX2B 10 1 227 81 23 0 339
SDHC 33 15 219 68 5 0 337
SDHD 59 16 192 64 8 0 334
RET 11 1 92 24 47 0 173
TMEM127 4 20 74 13 28 0 133
MAX 0 0 30 8 24 0 62
LOC110011216, PHOX2B 5 0 18 23 9 0 51
KIF1B 1 0 20 4 2 0 27
SDHAF2 1 1 7 0 0 0 9
LOC106736614, RET 0 0 5 1 2 0 8
LOC107303340, VHL 2 4 0 0 0 0 6
SLC25A11 5 0 0 0 0 0 5
VHL 3 1 0 0 0 0 4
ALG9, BTG4, C11orf1, C11orf52, COLCA2, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, LOC728196, MIR34B, MIR34C, NKAPD1, PIH1D2, POU2AF1, PPP2R1B, SDHD, SIK2, TIMM8B 1 0 1 0 0 0 2
ASCL1 2 0 0 0 0 0 2
ASCL1, PAH 1 0 1 0 0 0 2
CFAP126, SDHC 1 0 0 0 1 0 2
MPZ, SDHC 0 0 0 0 2 0 2
PADI2, SDHB 2 0 0 0 0 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, C1orf100, C1orf105, C1orf112, C1orf115, C1orf116, C1orf131, C1orf147, C1orf189, C1orf198, C1orf21, C1orf226, C1orf35, C1orf43, C1orf53, C1orf54, C1orf56, C1orf68, 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, 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, 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, EPHX1, EPRS1, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM189B, FAM20B, FAM71A, 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, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GABPB2, GALNT2, GAS5, GATAD2B, GBA, 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, H2AW, H2BC18, H2BC21, H2BU1, 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, 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, LOC100287049, LOC101927851, 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, 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, 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
BDNF 0 0 1 0 0 0 1
DLST 1 0 0 0 0 0 1
EDN3 1 0 0 0 0 0 1
GDNF 1 0 0 0 0 0 1
SDHD, TIMM8B 1 0 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 248 89 1692 592 55 0 2676
Illumina Clinical Services Laboratory,Illumina 0 0 261 63 136 0 460
Counsyl 2 7 55 16 3 0 83
OMIM 80 0 1 0 0 0 81
Fulgent Genetics,Fulgent Genetics 9 1 44 0 0 0 54
Familial Cancer Clinic,Veneto Institute of Oncology 0 19 0 0 0 0 19
Baylor Genetics 2 1 14 0 0 0 17
Center for Human Genetics, Inc,Center for Human Genetics, Inc 14 2 1 0 0 0 17
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 10
CSER _CC_NCGL, University of Washington 0 0 4 3 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 4 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 1 0 4 0 6
Mendelics 2 1 2 1 0 0 6
GeneReviews 4 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 0 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 1 0 3
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 3
Division of Medical Genetics, University of Washington 3 0 0 0 0 0 3
New York Genome Center 1 2 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 1 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Medical Genetics,College of Basic Medicine, Army Medical 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

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