ClinVar Miner

Variants studied for Moyomoya angiopathy

Included ClinVar conditions (63):
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 risk factor not provided total
414 163 840 217 79 3 19 1639

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PTPN11 64 24 58 11 15 0 6 163
PCNT 33 4 67 14 26 0 1 141
SOS1 22 11 76 22 12 0 2 138
KRAS 15 10 48 36 1 0 2 109
IFIH1 30 6 60 2 2 0 0 98
HRAS, LRRC56 17 8 60 4 0 0 0 86
SAMHD1 30 5 32 9 1 0 0 72
RAF1 16 21 29 12 0 0 2 70
ATRIP, ATRIP-TREX1, TREX1 24 7 28 9 4 0 0 69
BRAF 16 16 17 17 1 0 2 65
SOS2 2 4 45 6 5 0 1 62
ADAR 14 10 41 1 0 0 0 56
NRAS 7 0 35 13 0 0 1 56
RNASEH2A 14 3 31 10 5 0 0 53
RNASEH2B 8 5 35 6 0 0 0 51
RNF213 1 7 31 0 1 3 0 40
KAT5, RNASEH2C 0 0 27 4 3 0 0 34
HBB, LOC106099062, LOC107133510 30 1 0 0 1 0 1 32
RIT1 22 6 9 0 0 0 1 31
RNASEH2C 2 2 23 5 0 0 0 29
LZTR1 13 4 12 0 0 0 0 27
RRAS 0 0 19 3 1 0 0 23
MAP2K1, SNAPC5 0 0 14 4 0 0 0 18
ACTA2 3 0 12 2 0 0 0 17
MAP2K1 2 2 4 8 0 0 0 16
HBB, LOC107133510, LOC110006319 10 1 2 0 0 0 0 13
SAMHD1, TLDC2 0 0 6 6 1 0 0 13
MAP2K2 0 2 4 3 0 0 0 9
ACTA2, FAS 0 0 3 5 0 0 0 8
MAP2K1, TIPIN 0 0 4 4 0 0 0 8
CBL 3 3 1 0 0 0 0 7
GUCY1A1 7 0 0 0 0 0 0 7
RRAS2 5 0 0 0 0 0 0 5
A2ML1 0 0 2 0 0 0 0 2
PTPN11, RPL6 0 0 1 1 0 0 0 2
ARF6, DNAAF2, KLHDC1, KLHDC2, LINC01588, LINC01599, LOC100506499, MIR6076, NEMF, POLE2, RN7SL2, RN7SL3, SOS2, VCPKMT 0 0 1 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 0 1
BRCC3 1 0 0 0 0 0 0 1
DMPK 0 0 1 0 0 0 0 1
GJB2 1 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 0 1
SHOC2 1 0 0 0 0 0 0 1
TNNT2 0 0 1 0 0 0 0 1
TREX1 0 1 0 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 risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 3 1 358 166 10 0 0 538
Invitae 43 9 291 9 11 0 0 363
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 126 59 0 0 0 0 0 185
OMIM 137 0 0 0 0 3 0 140
Fulgent Genetics,Fulgent Genetics 54 8 43 2 0 0 0 107
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 25 0 9 15 37 0 0 86
Genetic Services Laboratory, University of Chicago 18 2 49 0 0 0 0 69
GeneReviews 67 0 0 0 0 0 0 67
Baylor Genetics 56 4 0 0 0 0 0 60
Service de Génétique Moléculaire,Hôpital Robert Debré 11 10 11 10 0 0 0 42
Integrated Genetics/Laboratory Corporation of America 19 9 1 0 2 0 0 31
ClinGen RASopathy Variant Curation Expert Panel 26 2 2 0 0 0 0 30
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 10 18 0 0 28
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 13 1 12 0 0 0 0 26
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 9 15 0 0 25
UMR-S1161,Institut national de la santé et de la recherche médicale 0 2 21 0 0 0 0 23
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 22 0 0 0 0 0 0 22
Blueprint Genetics 13 3 3 0 0 0 0 19
Laboratory of Neurogenetics and Neuroinflammation,Institut Imagine 19 0 0 0 0 0 0 19
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 11 1 5 0 0 0 0 17
Mendelics 2 3 4 2 3 0 0 14
Center for Human Genetics, Inc 10 0 2 1 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 3 7 0 0 0 0 13
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 4 5 4 0 0 0 0 13
Institute of Human Genetics,Klinikum rechts der Isar 7 5 0 0 0 0 0 12
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 3 9 0 0 0 0 12
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 11 11
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 1 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 4 0 1 0 0 0 9
Center of Genomic medicine, Geneva,University Hospital of Geneva 8 1 0 0 0 0 0 9
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 1 0 0 0 0 0 8
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 7 0 0 0 0 0 0 7
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 4 1 1 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 2 0 0 0 0 0 6
Phosphorus, Inc. 0 0 6 0 0 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 1 0 0 5
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 5 0 0 0 0 0 0 5
Broad Institute Rare Disease Group,Broad Institute 4 1 0 0 0 0 0 5
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 4 0 0 0 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 4 0 0 0 0 4
Undiagnosed Diseases Network,NIH 2 0 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 1 0 3 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 0 4
Institute of Human Genetics,Cologne University 0 1 1 1 0 0 0 3
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 3 0 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 1 0 0 0 0 3
University of Washington Center for Mendelian Genomics,University of Washington 3 0 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 0 3
GenomeConnect - CFC International 0 0 0 0 0 0 3 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 0 0 0 0 2
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 2 0 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 1 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 0 2
Department of Human Genetics,University Hospital Magdeburg 0 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 2
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 1 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
The Genetics Institute,Rambam Health Care Campus 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1
Department of Medical Genetics,University of Pecs 0 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 0 1
Division of Neonatology,National Center for Child Health and Development 1 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 0 0 0 0 1
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 1 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 1

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