ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome

Included ClinVar conditions (20):
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
290 141 2472 2094 167 51 5025

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFIH1 31 9 696 504 63 4 1270
ADAR 41 16 593 401 22 2 1060
SAMHD1 96 40 278 371 9 19 771
ATRIP, ATRIP-TREX1, TREX1 50 24 277 132 13 14 478
RNASEH2A 17 16 167 204 13 8 401
RNASEH2B 23 20 156 199 13 0 397
RNASEH2C 2 6 103 121 6 1 227
ADAR, LOC126805874 9 3 39 37 4 0 85
LOC130006061, RNASEH2C 0 0 33 38 1 0 72
LOC117038795, RNASEH2A 5 2 33 27 2 3 67
SAMHD1, TLDC2 1 0 29 20 8 0 58
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
LOC130009809, RNASEH2B 0 0 8 2 1 0 11
C12orf57, RNU7-1 5 2 1 0 0 0 8
LOC130065805, SAMHD1 3 0 0 3 1 0 7
LOC130006062, RNASEH2C 0 0 1 1 0 0 2
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
ADAR, CHRNB2, IL6R, SHE, TDRD10, UBE2Q1 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
DNASE2, GCDH, KLF1, MAST1, RNASEH2A, RTBDN, SYCE2 0 0 1 0 0 0 1
LSM11 1 0 0 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: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 219 62 2271 2054 137 0 4743
Illumina Laboratory Services, Illumina 3 4 164 26 37 0 234
Genome-Nilou Lab 2 3 43 13 19 0 80
Fulgent Genetics, Fulgent Genetics 5 11 38 16 4 0 74
Natera, Inc. 4 1 49 9 0 0 63
OMIM 53 0 0 0 0 0 53
GeneReviews 6 0 0 0 0 45 51
Baylor Genetics 10 1 17 0 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 13 0 0 0 0 21
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 19 0 0 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 16 1 0 0 18
New York Genome Center 2 1 9 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 4 2 0 0 0 11
3billion 4 5 2 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 6 0 0 0 10
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 8
Revvity Omics, Revvity 1 2 4 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 5 0 0 0 7
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 1 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 1 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 2 1 0 0 0 6
Genomics England Pilot Project, Genomics England 3 3 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 4 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 2 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 4 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 1 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 2 0 0 0 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 4 1 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 4
Mendelics 1 2 0 0 1 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 3 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 1 0 0 0 0 4
Suma Genomics 2 2 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
Undiagnosed Diseases Network, NIH 1 0 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 0 2 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
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 0 3
DASA 3 0 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 2 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 0 1 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 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
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
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
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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 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

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