ClinVar Miner

Variants studied for autoinflammatory syndrome of childhood

Included ClinVar conditions (47):
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
458 230 3486 2890 334 61 7177

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFIH1 31 11 700 504 63 4 1272
ADAR 41 17 593 401 22 2 1061
SAMHD1 96 40 279 373 18 19 771
COPA 4 3 268 361 55 1 681
ATRIP, ATRIP-TREX1, TREX1 51 27 277 134 18 14 480
ADA2 54 27 212 153 15 7 444
RNASEH2A 17 17 167 204 13 8 402
RNASEH2B 23 20 157 199 13 0 398
ACP5 38 4 143 94 12 0 283
STING1 7 3 142 79 14 0 241
RNASEH2C 2 6 103 121 6 1 227
PSMB8 14 2 103 64 13 0 189
SKIC2 11 11 52 7 18 0 96
ADAR, LOC126805874 9 3 39 37 4 0 85
LOC130006061, RNASEH2C 0 0 33 38 1 0 72
SKIC3 16 25 20 5 4 0 68
LOC117038795, RNASEH2A 5 2 33 27 2 3 67
SAMHD1, TLDC2 1 0 29 20 11 0 58
LOC123522803, STING1 0 0 25 21 5 0 51
KAT5, RNASEH2C 0 0 29 5 10 0 43
LOC130009810, RNASEH2B 3 2 17 19 0 0 40
ADAR, LOC129931512 0 0 8 10 1 0 19
RIGI 2 1 6 1 7 1 18
LOC126859653, SKIC2 2 2 10 1 3 0 17
LOC130009809, RNASEH2B 0 0 8 2 1 0 11
POLA1 1 0 6 4 0 0 11
C12orf57, RNU7-1 5 2 1 0 0 0 8
PSMB4 4 0 2 0 3 0 8
LOC130065805, SAMHD1 3 0 0 3 1 0 7
NELFE, SKIC2 0 0 5 1 0 0 6
POMP 3 0 1 1 0 0 5
USP18 3 3 1 0 0 0 5
PSMG2 2 0 2 0 0 0 4
PSMB10 1 0 2 0 0 0 3
LOC130006062, RNASEH2C 0 0 1 1 0 0 2
PSMA3 2 0 0 0 0 0 2
PSMB9 1 1 0 0 1 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 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 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 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 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B 0 0 1 0 0 0 1
ADA2, HDHD5, IL17RA, TMEM121B 0 0 1 0 0 0 1
ADAR, CHRNB2, IL6R, SHE, TDRD10, UBE2Q1 1 0 0 0 0 0 1
AGK 1 0 0 0 0 0 1
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, C3orf84, CAMKV, CCDC71, CDHR4, CELSR3, 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 1
AP5B1, CFL1, EFEMP2, EHBP1L1, FAM89B, KAT5, KCNK7, LTBP3, MAP3K11, MUS81, OVOL1, PCNX3, RELA, RNASEH2C, SIPA1, SNX32, ZNRD2 0 0 1 0 0 0 1
BLCAP, CTNNBL1, GHRH, MANBAL, MROH8, NNAT, RBL1, RPN2, SAMHD1, SRC 0 0 1 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 1
COPA, NCSTN 0 0 1 0 0 0 1
DNASE2, GCDH, KLF1, MAST1, RNASEH2A, RTBDN, SYCE2 0 0 1 0 0 0 1
LSM11 1 0 0 0 0 0 1
NLRP12 0 0 1 0 0 0 1
NOTCH3 0 0 0 0 0 1 1
PSMB8, TAP2 0 0 1 0 0 0 1
RNU7-1 1 0 0 0 0 0 1
TREX1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 308 80 3129 2814 249 0 6580
Illumina Laboratory Services, Illumina 3 4 243 44 82 0 350
Fulgent Genetics, Fulgent Genetics 17 17 94 48 6 0 182
OMIM 129 0 0 0 0 0 129
Genome-Nilou Lab 2 3 43 13 43 0 104
Natera, Inc. 4 1 49 9 0 0 63
Baylor Genetics 19 3 36 0 0 0 58
GeneReviews 6 0 0 0 0 52 58
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 29 0 0 0 0 44
Revvity Omics, Revvity 4 5 21 2 0 0 32
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 23 3 0 0 28
3billion 7 11 3 0 0 0 21
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 19 0 0 0 0 0 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 5 7 0 0 0 18
Mendelics 7 4 0 3 3 0 17
New York Genome Center 2 1 14 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 4 3 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 5 3 7 0 0 0 15
Johns Hopkins Genomics, Johns Hopkins University 5 3 6 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 8 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 9 0 0 0 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 2 7 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 4 3 3 1 0 0 11
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 7 2 0 0 0 11
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 7 2 1 0 11
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 8 1 0 0 0 0 9
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 4 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 4 0 0 0 0 8
Genomics England Pilot Project, Genomics England 3 5 0 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 5 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 1 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 4 1 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 2 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 2 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 1 1 3 0 0 5
Centogene AG - the Rare Disease Company 3 1 0 0 0 0 4
Undiagnosed Diseases Network, NIH 2 0 2 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 2 0 0 0 0 4
Suma Genomics 2 2 0 0 0 0 4
DASA 4 0 0 0 0 0 4
Institute of Neurology, Charite University of Medicine 0 1 0 3 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 1 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 1 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 2 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 2 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 3
Institute of Human Genetics, University Hospital Muenster 0 2 1 0 0 0 3
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 2 1 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 1 0 2 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 1 0 0 0 0 2
Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University 0 0 2 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
SNPedia 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 1
Division of Neonatology, National Center for Child Health and Development 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 0 1
GenomeConnect - CureCADASIL 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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