ClinVar Miner

Variants studied for Moyomoya angiopathy

Included ClinVar conditions (55):
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
325 107 694 276 123 3 16 1460

Gene and significance breakdown #

Total genes and gene combinations: 41
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PTPN11 59 16 56 11 15 0 6 152
SOS1 21 9 70 21 12 0 2 128
PCNT 33 3 66 7 17 0 1 125
HRAS, LRRC56 17 8 42 34 7 0 0 105
KRAS 12 5 48 36 0 0 1 101
SOS2 2 1 33 23 16 0 1 76
IFIH1 10 3 37 11 15 0 0 75
RAF1 16 20 28 12 0 0 2 68
ATRIP, ATRIP-TREX1, TREX1 22 4 22 10 8 0 0 61
NRAS 6 0 35 13 0 0 1 55
SAMHD1 23 2 20 9 1 0 0 51
RNASEH2A 12 2 24 13 7 0 0 49
BRAF 9 7 13 16 1 0 0 45
ADAR 13 9 19 7 7 0 0 44
RNASEH2B 7 1 24 6 4 0 0 37
RNF213 0 5 30 0 0 3 0 36
KAT5, RNASEH2C 0 0 27 4 3 0 0 34
RIT1 19 5 6 2 1 0 1 29
RRAS 0 0 16 10 3 0 0 29
RNASEH2C 2 2 20 5 3 0 0 26
LZTR1 12 3 7 0 0 0 0 21
ACTA2 3 0 12 2 0 0 0 17
MAP2K1, SNAPC5 0 0 14 3 0 0 0 17
HBB, LOC106099062, LOC107133510 11 1 0 0 1 0 1 14
SAMHD1, TLDC2 0 0 5 6 2 0 0 13
MAP2K1 1 1 3 5 0 0 0 10
ACTA2, FAS 0 0 3 5 0 0 0 8
MAP2K1, TIPIN 0 0 4 4 0 0 0 8
GUCY1A1 7 0 0 0 0 0 0 7
HBB, LOC107133510, LOC110006319 3 0 2 0 0 0 0 5
A2ML1 0 0 2 0 0 0 0 2
PTPN11, RPL6 0 0 1 1 0 0 0 2
TREX1 2 0 0 0 0 0 0 2
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
CBL 0 0 1 0 0 0 0 1
DMPK 0 0 1 0 0 0 0 1
GATA1 0 0 1 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

Submitter and significance breakdown #

Total submitters: 67
Download table as spreadsheet
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 24 6 171 94 69 0 0 364
OMIM 137 0 0 0 0 3 0 140
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 89 40 0 0 0 0 0 129
Fulgent Genetics 54 8 44 2 0 0 0 108
Genetic Services Laboratory, University of Chicago 18 2 49 0 0 0 0 69
GeneReviews 67 0 0 0 0 0 0 67
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 0 7 6 25 0 0 62
Integrated Genetics/Laboratory Corporation of America 19 9 1 0 2 0 0 31
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 10 18 0 0 28
ClinGen RASopathy Variant Curation Expert Panel, 24 2 1 0 0 0 0 27
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
Blueprint Genetics, 13 3 3 0 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 9 0 10 0 0 0 0 19
Baylor Miraca Genetics Laboratories, 13 2 0 0 0 0 0 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 0 5 0 0 0 0 15
Service de Génétique Moléculaire,Hôpital Robert Debré 11 3 0 0 0 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 6 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
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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
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
Institute of Human Genetics,Klinikum rechts der Isar 3 2 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
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
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
HudsonAlpha Institute for Biotechnology 2 0 0 1 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 1 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 0 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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 1 0 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
Undiagnosed Diseases Network,NIH 1 0 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 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
GOSgene,University College London Great Ormond Street Institute of Child Health 0 1 1 0 0 0 0 2
Institute of Human Genetics,Cologne University 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
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,Institute of Human Genetics 0 1 0 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
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 0 1
Genetics Molecular Biology Lab,Hospital Juan P Garrahan 0 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.