ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome

Included ClinVar conditions (14):
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
156 57 802 268 92 1 1304

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFIH1 30 6 208 60 29 1 325
ADAR 18 11 150 60 10 0 238
SAMHD1 50 11 99 54 5 0 204
ATRIP, ATRIP-TREX1, TREX1 30 13 81 23 9 0 143
RNASEH2A 11 5 80 21 10 0 118
RNASEH2B 11 7 74 16 5 0 106
RNASEH2C 2 3 50 18 6 0 72
KAT5, RNASEH2C 0 0 29 5 9 0 43
SAMHD1, TLDC2 0 0 17 5 7 0 29
LOC117038795, RNASEH2A 3 0 14 6 2 0 24
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
TREX1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 64 17 605 240 65 0 991
Illumina Clinical Services Laboratory,Illumina 2 1 163 27 37 0 230
GeneReviews 51 0 0 0 0 0 51
OMIM 45 0 0 0 0 0 45
Baylor Genetics 7 1 16 0 0 0 24
Laboratory of Neurogenetics and Neuroinflammation,Institut Imagine 19 0 0 0 0 0 19
Natera, Inc. 0 0 15 3 0 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 15 0 0 0 15
Fulgent Genetics,Fulgent Genetics 4 2 6 0 0 0 12
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 1 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 4 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 2 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 1 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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 1 0 4
Mendelics 1 2 0 0 1 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 1 0 0 0 0 4
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 2 0 0 0 4
New York Genome Center 1 1 2 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 2 1 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 2 0 0 0 3
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 3
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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 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
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1

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