ClinVar Miner

Variants studied for autoinflammatory syndrome

Included ClinVar conditions (114):
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 association risk factor not provided total
846 447 9347 7231 1338 6 2 619 18198

Gene and significance breakdown #

Total genes and gene combinations: 153
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
PLCG2 6 4 618 597 97 0 0 1 1285
IFIH1 31 14 702 504 64 0 0 4 1277
ADAR 47 19 657 405 52 0 0 3 1151
NLRP12 10 11 731 345 86 0 0 2 1085
NOD2 15 3 513 338 84 3 0 81 864
MEFV 16 15 481 478 73 0 0 117 829
NLRP3 32 22 408 298 68 0 0 98 808
SAMHD1 102 42 277 373 18 0 0 19 777
LPIN2 23 18 413 314 57 0 0 11 768
SH3BP2 9 3 339 236 135 0 0 0 691
COPA 6 3 269 361 55 0 0 1 683
NLRC4 6 4 431 222 26 0 0 0 663
MVK 66 27 182 259 18 0 0 92 561
PSTPIP1 3 0 297 247 68 0 0 4 556
ATRIP, ATRIP-TREX1, TREX1 51 29 279 134 18 0 0 14 484
ADA2 56 31 230 156 16 0 0 7 457
RBCK1 27 8 183 198 20 0 0 0 433
TNFRSF1A 19 15 192 171 19 0 0 86 426
RNASEH2A 18 17 167 204 13 0 0 8 403
RNASEH2B 27 21 157 199 13 0 0 0 402
ACP5 38 5 143 94 12 0 0 0 284
STING1 7 3 157 85 15 0 0 0 256
ADAM17, IAH1 7 3 114 102 21 0 0 0 243
RNASEH2C 3 6 104 121 6 0 0 1 227
LOC126862264, MEFV 11 9 105 128 14 0 0 59 216
ADAM17 8 2 91 102 9 0 0 1 211
PSMB8 14 4 113 65 13 0 0 0 196
IL1RN 10 3 99 67 24 0 0 0 188
IL36RN 12 7 107 61 23 0 0 2 181
SKIC2 11 11 52 11 18 0 0 0 100
CARD14 0 0 59 20 12 0 0 0 91
ADAR, LOC126805874 9 4 41 37 4 0 0 0 87
LYST 0 2 48 22 12 0 0 0 84
SKIC3 18 29 21 5 4 0 0 0 75
UNC13D 7 8 44 9 5 0 0 0 73
LOC130006061, RNASEH2C 0 0 33 38 1 0 0 0 72
LOC117038795, RNASEH2A 5 2 33 27 2 0 0 3 67
CYLD, NOD2 0 0 37 14 15 1 0 3 66
SAMHD1, TLDC2 1 0 29 20 11 0 0 0 58
TNFAIP3 11 6 27 7 5 0 0 0 56
LOC123522803, STING1 0 0 26 21 5 0 0 0 52
PRF1 3 5 26 5 7 0 0 0 46
KAT5, RNASEH2C 0 0 29 5 10 0 0 0 43
LOC130009810, RNASEH2B 3 2 17 19 0 0 0 0 40
ELANE 1 2 19 12 4 0 0 0 38
AP3B1 1 0 14 13 9 0 0 0 37
CARD14, SGSH 0 0 12 14 10 0 0 0 36
STXBP2 2 0 16 9 9 0 0 0 36
RAB27A 2 3 21 3 0 0 0 0 29
ADAR, LOC129931512 0 0 8 10 2 0 0 0 20
RIGI 2 1 6 1 7 0 0 1 18
ITK 0 0 12 2 3 0 0 0 17
LOC126859653, SKIC2 2 2 10 1 3 0 0 0 17
SLC7A7 1 0 11 2 2 0 0 0 16
CARD14, LOC126862662, SGSH 0 0 8 2 4 0 0 0 14
EGFR 4 0 3 1 6 0 0 0 14
OTULIN 8 0 4 2 0 0 0 0 14
LOC126859807, TNFAIP3 4 2 4 1 2 0 0 0 13
LOC130007232, TNFRSF1A 0 0 4 9 1 0 0 0 13
LOC130009809, RNASEH2B 0 0 8 2 1 0 0 0 11
POLA1 1 0 6 4 0 0 0 0 11
STX11 0 0 7 1 3 0 0 0 11
C12orf57, RNU7-1 5 2 1 0 0 0 0 0 8
DOCK11 7 0 1 0 0 0 0 0 8
PSMB4 4 0 2 0 3 0 0 0 8
XIAP 0 1 5 0 2 0 0 0 8
LOC130065805, SAMHD1 3 0 0 3 1 0 0 0 7
MMAB, MVK 0 0 2 2 5 0 0 0 7
IKBKG 4 0 2 0 0 0 0 0 6
LOC112533672, UNC13D 1 0 3 1 1 0 0 0 6
NELFE, SKIC2 0 0 5 1 0 0 0 0 6
PSMB10 4 0 2 0 0 0 0 0 6
SH2D1A 0 3 2 0 1 0 0 0 6
SOCS1 3 3 1 0 0 0 0 0 6
CD27 0 0 3 1 1 0 0 0 5
ELF4 3 0 2 0 0 0 0 0 5
LOC126863253, UBA1 5 3 0 0 0 0 0 0 5
LOC130057651, PSTPIP1 0 0 2 1 3 0 0 0 5
LYN 4 0 1 0 0 0 0 0 5
POMP 3 0 1 1 0 0 0 0 5
USP18 3 3 1 0 0 0 0 0 5
ADAR, LOC129931513 0 0 3 0 1 0 0 0 4
LOC130058479, SOCS1 2 0 2 0 0 0 0 0 4
PSMG2 2 0 2 0 0 0 0 0 4
UBA1 0 0 3 1 0 0 0 0 4
LOC129992073, SH3BP2 0 0 0 1 2 0 0 0 3
LOC130007233, TNFRSF1A 0 0 3 0 0 0 0 0 3
PSMB9 2 1 0 0 1 0 0 0 3
ADD1, ATP5ME, CPLX1, CRIPAK, CTBP1, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, IDUA, LETM1, MAEA, MFSD10, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, RGS12, RNF212, RNF4, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TNIP2, UVSSA, ZFYVE28, ZNF721 0 0 2 0 0 0 0 0 2
BLOC1S6 0 0 1 0 1 0 0 0 2
EMILIN2, LPIN2, SMCHD1 1 0 1 0 0 0 0 0 2
LOC129992072, SH3BP2 0 0 0 1 1 0 0 0 2
LOC130006062, RNASEH2C 0 0 1 1 0 0 0 0 2
LOC130007233, SCNN1A, TNFRSF1A 0 0 1 2 0 0 0 0 2
LOC130062090, LOC130062091, LOC130062092, LPIN2 1 0 1 0 0 0 0 0 2
MLKL 0 0 0 0 0 2 0 0 2
NLRC4, SLC30A6, SPAST 0 0 2 0 0 0 0 0 2
NLRP3, OR2B11 0 0 2 0 0 0 0 0 2
PSMA3 2 0 0 0 0 0 0 0 2
PSMB8, TAP2 0 0 2 0 0 0 0 0 2
RBCK1, TBC1D20 1 0 1 0 0 0 0 0 2
ABHD16A, AGER, AGPAT1, AIF1, ANKS1A, APOM, ARMC12, ATF6B, ATP6V1G2, B3GALT4, BAG6, BAK1, BLTP3A, BNIP5, BRD2, BRPF3, BTNL2, C2, C4A, C4B, C6orf15, C6orf47, C6orf89, CCHCR1, CDKN1A, CDSN, CFB, CLIC1, CLPS, CLPSL1, CLPSL2, COL11A2, CPNE5, CSNK2B, CUTA, CYP21A2, DAXX, DDAH2, DDR1, DDX39B, DEF6, DXO, EGFL8, EHMT2, ETV7, FANCE, FKBP5, FKBPL, FLOT1, GPANK1, GPSM3, GRM4, GTF2H4, HCG22, HCG26, HCP5, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HMGA1, HSD17B8, HSPA1A, HSPA1B, HSPA1L, IER3, ILRUN, IP6K3, ITPR3, KCTD20, KIFC1, LEMD2, LHFPL5, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, MAPK13, MAPK14, MCCD1, MICA, MICB, MIR219A1, MLN, MPIG6B, MSH5, MTCH1, MUC21, MUC22, MUCL3, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, NUDT3, PACSIN1, PBX2, PFDN6, PHF1, PI16, PNPLA1, POU5F1, PPARD, PPIL1, PPT2, PRRC2A, PRRT1, PSMB8, PSMB9, PSORS1C1, PSORS1C2, PXT1, RAB44, RGL2, RING1, RNF5, RPL10A, RPS10, RPS18, RXRB, SAPCD1, SCUBE3, SFTA2, SKIC2, SLC26A8, SLC39A7, SLC44A4, SMIM29, SNHG32, SNRPC, SPDEF, SRPK1, SRSF3, STK19, STK38, SYNGAP1, TAF11, TAP1, TAP2, TAPBP, TCF19, TCP11, TEAD3, TNF, TNXB, TSBP1, TULP1, UQCC2, VARS1, VARS2, VPS52, VWA7, WDR46, ZBTB12, ZBTB22, ZBTB9, ZNF76 0 0 1 0 0 0 0 0 1
ABRACL, AHI1, AHI1-DT, ALDH8A1, ARFGEF3, BCLAF1, CCDC28A, CITED2, ECT2L, FILNC1, GJE1, HBS1L, HEBP2, HECA, IFNGR1, IL20RA, IL22RA2, LINC01625, LINC02524, LINC02539, LINC02865, LINC02941, LINC03004, LOC101928373, LOC102723690, LOC103352541, LOC108169207, LOC110121073, LOC110121174, LOC111413040, LOC111589214, LOC113146415, LOC113146417, LOC113146418, LOC113146419, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132708, LOC121740667, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC128669075, LOC129389649, LOC129389650, LOC129389651, LOC129389652, LOC129389653, LOC129389654, LOC129389655, LOC129389656, LOC129389657, LOC129389658, LOC129389659, LOC129389660, LOC129389661, LOC129389662, LOC129389663, LOC129389664, LOC129389665, LOC129389666, LOC129997199, LOC129997200, LOC129997201, LOC129997202, LOC129997203, LOC129997204, LOC129997205, LOC129997206, LOC129997207, LOC129997208, LOC129997209, LOC129997210, LOC129997211, LOC129997212, LOC129997213, LOC129997214, LOC129997215, LOC129997216, LOC129997217, LOC129997218, LOC129997219, LOC129997220, LOC129997221, LOC129997222, LOC129997223, LOC129997224, LOC129997225, LOC129997226, LOC129997227, LOC129997228, LOC129997229, LOC129997230, LOC129997231, LOC129997232, LOC129997233, LOC129997234, LOC129997235, LOC129997236, LOC129997237, LOC129997238, LOC129997239, LOC129997240, LOC129997241, LOC129997242, LOC129997243, LOC129997244, LOC129997245, LOC129997246, LOC129997247, LOC129997248, LOC129997249, LOC129997250, LOC129997251, LOC129997252, LOC129997253, LOC129997254, LOC129997255, LOC129997256, LOC129997257, LOC129997258, LOC129997259, LOC129997260, LOC129997261, LOC129997262, LOC129997263, LOC129997264, LOC129997265, LOC129997266, LOC129997267, LOC129997268, LOC129997269, LOC129997270, LOC129997271, LOC129997272, LOC129997273, LOC129997274, LOC129997275, LOC129997276, LOC129997277, LOC129997278, LOC129997279, LOC129997280, LOC129997281, LOC129997282, LOC129997283, LOC129997284, LOC129997285, LOC129997286, LOC129997287, LOC129997288, LOC129997289, LOC129997290, LOC129997291, LOC129997292, LOC129997293, LOC129997294, LOC129997295, LOC129997296, LOC129997297, LOC129997298, LOC129997299, LOC129997300, LOC129997301, LOC129997302, LOC129997303, LOC129997304, LOC129997305, LOC129997306, LOC129997307, LOC129997308, LOC129997309, LOC129997310, LOC129997311, LOC129997312, LOC129997313, LOC129997314, LOC129997315, LOC132089349, LOC132089350, LOC132089351, LOC132089352, LOC132089353, LOC132089354, LOC132089355, LOC132089356, LOC132089357, LOC132089358, LOC132089359, LOC132089360, LOC132089361, LOC132089362, LOC132089363, LOC132089364, LOC132089365, LOC132089366, LOC132089367, LOC132089368, LOC132089369, LOC132089370, LOC132090769, LOC132090770, MAP3K5, MAP7, MIR3145, MIR3662, MIR3668, MIR4465, MIR548A2, MTFR2, MYB, NHEG1, NHSL1, NMBR, OLIG3, PBOV1, PDE7B, PERP, PEX7, REPS1, SIMALR, SLC35D3, SMIM28, TNFAIP3, TXLNB, VTA1, WAKMAR2 1 0 0 0 0 0 0 0 1
ACKR1, ADAMTS4, AIM2, APCS, APOA2, ARHGAP30, ATF6, ATP1A2, ATP1A4, B4GALT3, C1orf226, CADM3, CASQ1, CD244, CD48, CD84, CFAP126, CFAP45, COPA, CRP, DCAF8, DCAF8-DT, DDR2, DEDD, DUSP12, DUSP23, F11R, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL6, FCRLA, FCRLB, HSPA6, IFI16, IGSF8, IGSF9, ITLN1, ITLN2, KCNJ10, KCNJ9, KLHDC9, LY9, MNDA, MPZ, NCSTN, NDUFS2, NECTIN4, NHLH1, NIT1, NOS1AP, NR1I3, OLFML2B, OR10J1, OR10J3, OR10J5, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, PCP4L1, PEA15, PEX19, PFDN2, PIGM, PPOX, PYHIN1, SDHC, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SNHG28, SPATA46, SPTA1, TAGLN2, TOMM40L, TSTD1, UAP1, UFC1, UHMK1, USF1, USP21, VANGL2, VSIG8 0 0 1 0 0 0 0 0 1
ACTN3, ACY3, AIP, ALDH3B1, ALDH3B2, ANKRD13D, ANO1, AP5B1, B4GAT1, BANF1, BBS1, BRMS1, C11orf24, C11orf68, C11orf86, CABP2, CABP4, CAPN1, CARNS1, CATSPER1, CCDC85B, CCDC87, CCND1, CCS, CD248, CDC42EP2, CDK2AP2, CFL1, CHKA, CLCF1, CNIH2, CORO1B, CPT1A, CST6, CTSF, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FADD, FAM89B, FGF19, FGF3, FGF4, FIBP, FOSL1, FRMD8, GAL, GAL3ST3, GPR152, GRK2, GSTP1, IGHMBP2, KAT5, KCNK7, KDM2A, KLC2, KMT5B, LRFN4, LRP5, LTBP3, LTO1, MALAT1, MAP3K11, MRGPRD, MRGPRF, MRPL11, MRPL21, MUS81, MYEOV, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NUDT8, OVOL1, PACS1, PC, PCNX3, PELI3, PITPNM1, POLA2, POLD4, PPP1CA, PPP6R3, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RELA, RHOD, RIN1, RNASEH2C, RPS6KB2, SART1, SCYL1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TCIRG1, TESMIN, TIGD3, TMEM134, TMEM151A, TOP6BL, TPCN2, TSGA10IP, UNC93B1, YIF1A, ZDHHC24, ZNRD2 0 0 1 0 0 0 0 0 1
ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, ESS2, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RTL10, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TSSK2, TUBA8, TXNRD2, UFD1, USP18 1 0 0 0 0 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B 0 0 1 0 0 0 0 0 1
ADA2, HDHD5, IL17RA, TMEM121B 0 0 1 0 0 0 0 0 1
ADAR, AQP10, ATP8B2, C1orf43, CFAP141, CHRNB2, CREB3L4, CRTC2, DENND4B, GATAD2B, HAX1, IL6R, JTB, NUP210L, RAB13, RPS27, SHE, SLC39A1, TDRD10, TPM3, UBAP2L, UBE2Q1 0 0 1 0 0 0 0 0 1
ADAR, CHRNB2, IL6R, SHE, TDRD10, UBE2Q1 1 0 0 0 0 0 0 0 1
AGK 1 0 0 0 0 0 0 0 1
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, CAMKV, CCDC71, CDHR4, CELSR3, CIMIP7, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6 1 0 0 0 0 0 0 0 1
AP5B1, CFL1, EFEMP2, EHBP1L1, FAM89B, KAT5, KCNK7, LTBP3, MAP3K11, MUS81, OVOL1, PCNX3, RELA, RNASEH2C, SIPA1, SNX32, ZNRD2 0 0 1 0 0 0 0 0 1
ARID3B, C15orf39, CCDC33, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, ETFA, FAM219B, FBXO22, GOLGA6A, GOLGA6C, GOLGA6D, IMP3, ISL2, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NRG4, PML, PPCDC, PSTPIP1, PTPN9, RCN2, RPP25, SCAMP2, SCAMP5, SCAPER, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TMEM266, UBE2Q2, UBL7, ULK3 0 0 1 0 0 0 0 0 1
BCO1, CMIP, GAN, GCSH, PKD1L2, PLCG2 0 0 1 0 0 0 0 0 1
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 0 0 0 0 0 0 1
BLCAP, CTNNBL1, GHRH, MANBAL, MROH8, NNAT, RBL1, RPN2, SAMHD1, SRC 0 0 1 0 0 0 0 0 1
BRD8, CDC23, CDC25C, CTNNA1, DNAJC18, ECSCR, EGR1, ETF1, FAM13B, FAM53C, GFRA3, HNRNPA0, HSPA9, KDM3B, KIF20A, KLHL3, LRRTM2, MATR3, MYOT, MZB1, NME5, PAIP2, PKD2L2, PROB1, REEP2, SIL1, SLC23A1, SNHG4, SPATA24, STING1, WNT8A 0 0 1 0 0 0 0 0 1
BTNL2, TSBP1 0 0 0 0 0 0 1 0 1
CD27, LOC130007242 0 0 1 0 0 0 0 0 1
CEBPE 1 0 0 0 0 0 0 0 1
COPA, NCSTN 0 0 1 0 0 0 0 0 1
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 0 0 1 0 0 0 0 0 1
CYLD, NOD2, SALL1 0 0 1 0 0 0 0 0 1
DCLRE1C 0 1 0 0 0 0 0 0 1
DNAJC18, ECSCR, MATR3, MZB1, PAIP2, PROB1, SIL1, SLC23A1, SNHG4, SPATA24, STING1 0 0 1 0 0 0 0 0 1
DNASE2, GCDH, KLF1, MAST1, RNASEH2A, RTBDN, SYCE2 0 0 1 0 0 0 0 0 1
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH 0 0 1 0 0 0 0 0 1
FAM193A, HAUS3, MXD4, NAT8L, POLN, RNF4, SH3BP2, TNIP2, ZFYVE28 0 0 1 0 0 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 0 0 0 1
GCSAML, NLRP3, OR11L1, OR13G1, OR14A16, OR1C1, OR2B11, OR2C3, OR2G2, OR2G3, OR2W3, OR6F1, TRIM58 0 0 1 0 0 0 0 0 1
HLA-DRB1 0 0 0 0 0 0 1 0 1
IL1F10, IL1RN, IL36RN 1 0 0 0 0 0 0 0 1
IL1F10, IL36RN 0 1 0 0 0 0 0 0 1
IL1R1 1 0 0 0 0 0 0 0 1
LOC129992074, SH3BP2 0 0 1 0 0 0 0 0 1
LOC130055323, SLC7A7 0 0 0 0 1 0 0 0 1
LOC130057652, LOC130057653, PSTPIP1 0 0 1 0 0 0 0 0 1
LOC130058478, SOCS1 0 1 0 0 0 0 0 0 1
LOC130059250, PSMB10 1 0 0 0 0 0 0 0 1
LOC130065264, RBCK1 0 0 1 0 0 0 0 0 1
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1 0 0 1 0 0 0 0 0 1
LSM11 1 0 0 0 0 0 0 0 1
MMAB, MVK, UBE3B 0 0 1 0 0 0 0 0 1
MYADM, NLRP12, PRKCG 0 0 1 0 0 0 0 0 1
NFKBIA 0 0 1 0 0 0 0 0 1
NOTCH3 0 0 0 0 0 0 0 1 1
RAPGEFL1 0 0 1 0 0 0 0 0 1
RIT1 0 0 0 1 0 0 0 0 1
RNF31 0 0 1 0 0 0 0 0 1
RNU7-1 1 0 0 0 0 0 0 0 1
SCNN1A, TNFRSF1A 0 0 0 1 0 0 0 0 1
TREX1 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 181
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 512 138 7452 6583 761 4 0 0 15450
Illumina Laboratory Services, Illumina 14 5 873 191 563 0 0 0 1621
Genome Diagnostics Laboratory, The Hospital for Sick Children 36 55 892 305 192 0 0 0 1480
Fulgent Genetics, Fulgent Genetics 33 26 386 215 12 0 0 0 671
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 514 514
Genome-Nilou Lab 5 7 196 184 147 0 0 0 375
OMIM 291 0 4 0 0 0 2 0 297
Natera, Inc. 13 2 196 44 21 0 0 0 276
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 68 82 68 0 0 0 220
Mendelics 18 8 94 4 10 0 0 0 134
Baylor Genetics 37 10 77 0 0 0 0 0 121
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 1 101 6 1 0 0 0 115
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 38 37 2 1 10 0 0 0 88
Revvity Omics, Revvity 5 10 69 2 0 0 0 0 86
GeneReviews 6 0 0 0 0 0 0 74 80
Neuberg Centre For Genomic Medicine, NCGM 6 9 36 0 0 0 0 0 50
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 13 26 2 0 0 0 0 49
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 24 8 13 0 0 0 0 0 45
3billion 13 16 7 4 0 0 0 0 40
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 7 24 0 0 0 0 0 38
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 1 19 12 0 0 0 0 34
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 9 1 14 5 2 0 0 0 31
MGZ Medical Genetics Center 5 11 12 0 0 0 0 0 28
New York Genome Center 3 2 23 0 0 0 0 0 28
Genetics and Molecular Pathology, SA Pathology 2 3 8 8 1 0 0 0 22
Institute of Human Genetics, University of Leipzig Medical Center 5 6 9 1 0 0 0 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 4 8 2 0 0 0 0 19
Johns Hopkins Genomics, Johns Hopkins University 7 3 9 0 0 0 0 0 19
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 19 0 0 0 0 0 0 0 19
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 19 19
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 5 11 0 0 0 0 0 18
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 8 6 4 0 0 0 0 0 18
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 9 4 0 0 0 0 0 18
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 14 2 0 0 0 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 7 0 0 0 0 0 0 15
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 7 6 0 0 0 14
Department of Human Genetics, Hannover Medical School 3 1 10 0 0 0 0 0 14
Medical Biology Lab, Gaziantep University 0 0 0 0 0 0 0 13 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 9 3 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 0 12 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 5 0 0 0 0 0 0 12
Undiagnosed Diseases Network, NIH 4 0 7 0 0 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 2 1 0 0 0 0 0 11
Genomics England Pilot Project, Genomics England 3 8 0 0 0 0 0 0 11
Centogene AG - the Rare Disease Company 5 2 3 0 0 0 0 0 10
Counsyl 2 3 3 1 1 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 8 1 1 0 0 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 4 0 0 0 0 0 0 9
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 1 6 0 0 0 0 0 9
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 4 3 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 2 2 0 0 0 0 0 8
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 2 5 0 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 1 0 0 0 0 0 0 6
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 6 0 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 2 1 3 0 0 0 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 3 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 2 0 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 2 0 1 0 0 0 5
Myriad Genetics, Inc. 4 1 0 0 0 0 0 0 5
Suma Genomics 2 3 0 0 0 0 0 0 5
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 0 0 0 0 0 0 0 4
Medical Genetics of Dicle University 0 0 0 0 0 0 0 4 4
Hadassah Hebrew University Medical Center 3 1 0 0 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 1 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 3 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 2 0 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 0 0 4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 2 0 0 0 0 0 0 4
DASA 4 0 0 0 0 0 0 0 4
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 3 1 0 0 0 0 0 0 4
Institute of Neurology, Charite University of Medicine 0 1 0 3 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 2 2 0 0 0 0 0 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 1 0 0 0 0 0 3
Inflammatory Disease Section/Clinical Genetics Service, National Human Genome Research Institute 3 0 0 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 2 0 0 0 0 3
Atomic Energy Commission of Syria (AECS) 0 0 0 3 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 0 0 0 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 2 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 2 0 0 0 0 0 3
Breda Genetics srl 0 1 1 1 0 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 2 0 0 0 0 0 3
Genomics Facility, Ludwig-Maximilians-Universität München 1 2 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 2 1 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 1 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 2 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 0 3
Genomics And Bioinformatics Analysis Resource, Columbia University 2 1 0 0 0 0 0 0 3
Dr.Nikuei Genetic Center 0 0 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 1 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 1 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 2 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 2 0 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 0 2
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 1 0 0 0 0 0 0 2
Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University 0 0 2 0 0 0 0 0 2
Vinuesa Lab, Australian National University 0 0 0 0 0 2 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 2
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 2 0 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 2 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 0 2
Department of Immunology, Beijing Children's Hospital of Capital Medical University 1 1 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
SNPedia 1 0 0 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 0 0 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center., Columbia University Medical Center 1 0 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 1 0 0 0 0 0 0 0 1
Clinical Bioinformatic Lab, Royan Institute 0 1 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 0 0 1
Division of Neonatology, National Center for Child Health and Development 1 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 0 1
Neurology Institute, Anhui University of Chinese Medicine 1 0 0 0 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 0 0 0 0 0 0 0 1
GenomeConnect - CureCADASIL 0 0 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 0 0 1
Experimental and Health Sciences Department, Universitat Pompeu Fabra 0 0 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 1 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 0 1 0 0 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 0 1
Dept of laboratory medicine, Chungbuk National University Hospital 0 1 0 0 0 0 0 0 1
Healthincode, Healthincode group 0 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 1
Arcensus 1 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 0 1
Children's Rare Disease Laboratory, Dongguan Children's Hospital 0 1 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 0 0 1

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