ClinVar Miner

Variants studied for adrenal gland disease

Included ClinVar conditions (117):
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 not provided total
1204 670 4871 1791 769 1 26 8944

Gene and significance breakdown #

Total genes and gene combinations: 120
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SDHA 72 34 785 293 53 0 0 1194
CACNA1H 1 0 651 382 130 0 0 1157
MEN1 198 51 544 238 40 0 6 1045
SDHB 127 50 347 107 16 0 2 619
ABCD1 139 71 185 104 50 0 0 511
AIRE 53 61 175 122 36 0 1 416
TMEM127 25 28 265 80 32 0 0 412
SDHC 34 17 245 70 30 0 0 389
SDHD 64 20 209 66 10 0 1 355
SDHAF2 7 7 144 44 13 0 0 212
RET 10 15 91 24 47 0 0 181
MAX 11 1 99 39 24 0 0 170
PEX5 8 0 96 42 9 0 0 154
POR 8 3 110 14 18 0 0 139
NR3C1 8 0 100 22 7 0 0 136
KCNJ5 5 0 80 3 37 0 0 125
MC2R 14 1 64 10 25 0 0 114
CYP21A2, LOC106780800 30 14 31 8 32 0 1 112
CYP11B2, LOC106799834 7 2 63 21 40 0 1 108
CYP11B1, LOC106799833 17 26 50 13 23 0 6 105
CYP11B1 9 8 54 13 33 0 2 99
STAR 15 21 60 6 4 0 0 98
NR0B1 71 5 5 0 3 0 0 81
PEX26 9 0 54 14 6 0 0 78
AAAS 12 4 43 8 1 0 0 65
PEX6 12 25 21 2 0 0 0 59
PEX1 15 36 7 0 0 0 0 57
HSD3B2 11 1 31 9 10 0 0 53
PEX12 6 28 17 0 1 0 0 51
TP53 6 40 4 0 0 0 0 49
CYP17A1 6 2 34 0 2 0 3 44
PEX10 9 18 17 1 0 0 0 42
CYP11A1 10 2 22 6 4 0 0 40
ASIC4, GMPPA 5 0 9 11 5 0 0 30
KIF1B 1 0 21 4 2 0 0 28
GATAD1, PEX1 5 15 4 0 0 0 1 24
MRAP 10 0 6 3 3 0 0 22
HSD11B2 13 2 7 0 1 0 0 21
PEX2 4 7 10 0 0 0 0 21
CYP21A2 16 1 1 0 2 0 0 19
NNT 10 3 4 0 2 0 0 19
LOC100506321, MAX 3 0 8 7 0 0 0 18
CDKN1C 9 1 3 0 1 0 0 14
MRAP, URB1 0 0 8 1 4 0 0 13
PDE11A 1 4 9 0 0 0 0 12
CTNNB1 0 11 0 0 0 0 0 11
ARMC5 7 1 2 0 0 0 0 10
CACNA1D 2 1 8 0 0 0 0 10
GHR 6 0 5 0 0 0 0 10
CLCN2 7 0 2 0 0 0 0 9
GNAS 6 3 2 0 0 0 0 9
PEX16 3 1 4 0 0 0 1 9
H6PD 5 0 2 0 1 0 0 8
LOC106736614, RET 0 0 5 1 2 0 0 8
LOC107303340, VHL 2 4 2 0 0 0 0 8
VHL 3 2 3 0 0 0 0 8
CYP17A1, LOC110408762 0 0 5 0 1 0 0 6
AKR1C2 4 0 0 0 1 0 0 5
NRAS 0 5 0 0 0 0 0 5
SERPINA6 3 2 2 0 0 0 0 5
USP8 5 0 0 0 0 0 0 5
CYP21A2, LOC106780800, TNXB 3 0 0 0 1 0 1 4
GHSR 0 0 1 1 2 0 0 4
HSD11B1 2 0 1 0 1 0 0 4
LOC108863620, STAR 0 0 3 1 0 0 0 4
LOC110121224, TMEM127 2 0 2 0 0 0 0 4
PEX10, PLCH2 1 3 0 0 0 0 0 4
PIK3CA 0 4 0 0 0 0 0 4
AIP 1 0 2 0 0 0 0 3
ATP1A1 3 0 0 0 0 0 0 3
ATP2B3 3 0 0 0 0 0 0 3
BRAF 0 3 0 0 0 0 0 3
PEX11B 3 0 0 0 0 0 0 3
PEX13 2 0 1 0 0 0 0 3
POR, TMEM120A 0 0 3 0 0 0 0 3
PRKAR1A 3 0 0 0 0 0 0 3
AIRE, CFAP410, DNMT3L, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LRRC3, PFKL, PTTG1IP, SUMO3, TRPM2, TSPEAR, UBE2G2 1 0 1 0 0 0 0 2
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 0 2
CFAP126, SDHC 1 0 0 0 1 0 0 2
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
CYP11B1, LOC110673972 0 2 0 0 0 0 0 2
CYP11B2 2 0 0 0 0 0 0 2
CYP21A2, LOC106780800, LOC110631417 0 1 0 0 1 0 0 2
HSD3B2, LOC109029530 0 0 2 0 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 0 2
PADI2, SDHB 2 0 0 0 0 0 0 2
PRKACA 2 0 0 0 0 0 0 2
TBX19 0 0 2 0 0 0 0 2
TXNRD2 1 1 1 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
AAAS, MYG1 1 0 0 0 0 0 0 1
ABCA3, ANTKMT, BAIAP3, BRICD5, C16orf91, C1QTNF8, CACNA1H, CASKIN1, CCDC154, CCDC78, CCNF, CHTF18, CIAO3, CLCN7, CRAMP1, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MLST8, MRPS34, MSLN, MSRB1, NDUFB10, NME3, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PIGQ, PKD1, PRR25, PTX4, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLC9A3R2, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZNF598 0 0 1 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 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 0 0 1
ACRBP, ATN1, C12orf57, C1R, C1RL, C1S, CD27, CD4, CDCA3, CHD4, CLSTN3, COPS7A, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, P3H3, PEX5, PHB2, PIANP, PTMS, PTPN6, RBP5, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, ZNF384 0 0 1 0 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 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 1
AKR1C4 0 0 0 0 0 1 0 1
ANTKMT, BAIAP3, C16orf91, C1QTNF8, CACNA1H, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MRPS34, MSLN, MSRB1, NDUFB10, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PKD1, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SLC9A3R2, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZNF598 0 0 1 0 0 0 0 1
ANTKMT, C1QTNF8, CACNA1H, CCDC78, CHTF18, CIAO3, GNG13, HAGHL, LMF1, METRN, MSLN, PRR25, RPUSD1, SOX8, SSTR5 0 0 1 0 0 0 0 1
CHEK2 0 0 1 0 0 0 0 1
CYP11B2, LOC106799834, LOC110673971 0 0 0 1 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
DSC2 0 0 1 0 0 0 0 1
FAM20A, PRKAR1A 0 1 0 0 0 0 0 1
GHR, LOC107963950 0 0 1 0 0 0 0 1
GMPPA 1 0 0 0 0 0 0 1
GNAI2 1 0 0 0 0 0 0 1
H3-3A 0 1 0 0 0 0 0 1
IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1, TASL 1 0 0 0 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 0 1
MICAL3, PEX26 0 0 1 0 0 0 0 1
MMUT 0 0 1 0 0 0 0 1
PDE8B 1 0 0 0 0 0 0 1
PEX13, PUS10 0 0 1 0 0 0 0 1
SDHD, TIMM8B 1 0 0 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 110
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 643 174 3450 1531 303 0 0 6101
Illumina Clinical Services Laboratory,Illumina 6 5 1043 192 440 0 0 1628
Counsyl 48 218 159 31 5 0 0 461
OMIM 392 0 3 0 0 1 0 396
Natera, Inc. 11 6 85 35 32 0 0 169
Fulgent Genetics,Fulgent Genetics 32 7 93 0 0 0 0 132
Integrated Genetics/Laboratory Corporation of America 24 32 15 7 6 0 8 92
Baylor Genetics 25 11 47 0 0 0 0 83
Section on Medical Neuroendocrinolgy,National Institutes of Health 59 13 8 0 0 0 0 80
Database of Curated Mutations (DoCM) 0 79 0 0 0 0 0 79
Mendelics 14 8 22 7 15 0 0 66
Division of Human Genetics,Medical University Innsbruck 4 5 23 5 26 0 0 63
Institute of Human Genetics, Klinikum rechts der Isar 49 0 0 0 0 0 0 49
GeneReviews 32 0 0 0 5 0 0 37
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 19 14 1 0 0 0 0 34
Centre for Mendelian Genomics,University Medical Centre Ljubljana 12 3 16 0 2 0 0 33
Johns Hopkins Genomics, Johns Hopkins University 17 9 7 0 0 0 0 33
Center for Human Genetics, Inc,Center for Human Genetics, Inc 18 5 2 1 0 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 9 6 6 0 2 0 0 23
Myriad Women's Health, Inc. 13 7 0 0 0 0 0 20
Familial Cancer Clinic,Veneto Institute of Oncology 0 19 0 0 0 0 0 19
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 11 0 0 0 0 0 17
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 13 0 2 0 0 0 0 15
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 4 10 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 1 2 2 1 0 0 13
Elsea Laboratory,Baylor College of Medicine 3 0 10 0 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 7 1 5 0 0 0 0 13
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 7 4 2 0 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 0 11 11
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 0 10
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 6 3 0 0 0 0 10
CSER _CC_NCGL, University of Washington 0 0 5 4 0 0 0 9
New York Genome Center 3 2 3 0 0 0 0 8
Pecori Giraldi Lab,University of Milan 0 0 0 2 6 0 0 8
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 2 3 0 0 0 0 7
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 7 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 3 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 6
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 0 6 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 1 2 0 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 3 1 2 0 0 0 0 6
Undiagnosed Diseases Network,NIH 3 3 0 0 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 5 0 0 0 0 6
LifeCell International Pvt. Ltd 4 1 1 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 3 0 1 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 5
Ute Scholl Laboratory,Heinrich Heine University Duesseldorf 5 0 0 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 1 2 0 0 5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 0 0 0 0 0 4
GenePathDx,Causeway Health Care Private Ltd 0 4 0 0 0 0 0 4
Reproductive Health Research and Development,BGI Genomics 2 1 1 0 0 0 0 4
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 4 0 0 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 0 3
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 0 3
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 2 0 0 3
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 3 0 0 0 0 0 3
Division of Medical Genetics, University of Washington 3 0 0 0 0 0 0 3
Nilou-Genome Lab 1 0 0 1 1 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 1 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 2
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 1 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 1 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 1 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 1 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 1 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 1 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 0 1
Kangwon National University Hospital 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 0 0 1
Programa de Ciencias Genomicas e Biotecnologia,Universidade Catolica de Brasilia 1 0 0 0 0 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 0 0 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 0 0 0 0 0 0 1 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 1 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 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 1
Children’s Hospital, Clinical research laboratory,Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden 1 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 1
LACE Laboratorios 0 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 1
Internal Medicine,University of Pretoria 1 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Genetics Unit,Juan Ramón Jiménez Hospital 0 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 0 1
Department of Endocrinology, Metabolism and Genetics,Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 0 1 0 0 0 0 0 1
Liaoning Provincial Key Laboratory of Endocrine Diseases,The First Hospital of China Medical University 1 0 0 0 0 0 0 1
Bioinformatics Unit,Institut Pasteur de Montevideo 0 1 0 0 0 0 0 1

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