ClinVar Miner

Variants studied for conjunctival vascular disease

Included ClinVar conditions (67):
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 other not provided total
1272 576 3903 1195 301 1 29 6956

Gene and significance breakdown #

Total genes and gene combinations: 55
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
ATM 378 200 1649 455 62 0 0 2613
ATM, C11orf65 233 145 992 243 24 0 2 1566
RELN 8 0 171 56 49 0 1 280
GATA2 15 5 169 73 15 0 0 269
ACVRL1 98 23 73 35 14 0 2 233
ENG 80 19 89 40 14 0 0 230
GLA, RPL36A-HNRNPH2 116 47 48 22 9 1 3 223
PTPN11 62 18 56 11 15 0 6 157
CCBE1 6 0 98 19 19 0 5 142
SOS1 21 10 71 21 12 0 2 130
SMAD4 0 0 74 47 8 0 0 129
KRAS 14 9 48 36 0 0 1 107
ENG, LOC102723566 37 9 32 19 6 0 0 97
SOS2 2 4 47 23 16 0 1 92
LOC101927870, RELN 0 0 45 11 15 0 0 71
RAF1 16 20 28 12 0 0 2 68
PEPD 13 1 44 4 6 0 0 67
BRAF 14 16 16 17 1 0 0 61
NRAS 7 0 35 13 0 0 1 56
MPI 8 20 15 2 8 0 1 52
RRAS 0 0 20 10 3 0 0 33
RIT1 20 4 9 2 1 0 1 32
KIF11 22 3 2 0 1 0 0 28
GDF2 3 0 19 1 3 0 0 26
LZTR1 13 3 9 0 0 0 0 23
FGD1 13 4 4 2 0 0 0 21
FOXC2 16 1 1 0 0 0 0 18
MAP2K1 2 2 4 9 0 0 0 17
MAP2K1, SNAPC5 0 0 14 3 0 0 0 17
GLA 13 0 0 0 0 0 0 13
FLT4 10 0 0 0 0 0 0 10
MAP2K2 0 2 4 3 0 0 0 9
MAP2K1, TIPIN 0 0 4 4 0 0 0 8
CDC42 6 2 0 0 0 0 0 7
FAT4 5 0 2 0 0 0 0 7
CBL 2 3 1 0 0 0 0 6
CELSR1 2 3 0 0 0 0 0 5
SOX18, TCEA2 5 0 0 0 0 0 0 5
HRAS, LRRC56 1 2 0 1 0 0 0 4
GJC2 2 0 1 0 0 0 0 3
KIF1A 3 0 0 0 0 0 0 3
A2ML1 0 0 2 0 0 0 0 2
FGD1, TSR2 0 1 1 0 0 0 0 2
PTPN11, RPL6 0 0 1 1 0 0 0 2
VEGFC 2 0 0 0 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
CCDC88A 1 0 0 0 0 0 0 1
DMPK 0 0 1 0 0 0 0 1
G6PD, IKBKG 0 0 1 0 0 0 0 1
IKBKG 1 0 0 0 0 0 0 1
MSH2 0 0 0 0 0 0 1 1
MYLK2 0 0 1 0 0 0 0 1
SHOC2 1 0 0 0 0 0 0 1
ZNHIT3 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 791 179 3111 843 199 1 0 5124
Illumina Clinical Services Laboratory,Illumina 3 4 614 286 45 0 0 952
Counsyl 42 239 172 52 9 0 0 514
OMIM 250 0 2 0 0 0 0 252
Fulgent Genetics,Fulgent Genetics 76 9 133 1 0 0 0 219
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 122 56 0 0 0 0 0 178
Mendelics 26 5 126 6 1 0 0 164
Integrated Genetics/Laboratory Corporation of America 98 42 1 0 2 0 0 143
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 0 7 6 25 0 0 62
GeneReviews 58 0 2 0 0 0 0 60
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 0 0 46
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 6 17 19 0 0 42
Service de Génétique Moléculaire,Hôpital Robert Debré 11 10 8 10 0 0 0 39
Medical & Molecular Genetics Group,University of Lincoln 30 0 0 0 0 0 0 30
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 9 16 0 0 26
ClinGen RASopathy Variant Curation Expert Panel 23 1 0 0 0 0 0 24
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 2 14 5 0 0 21
Blueprint Genetics, 13 5 3 0 0 0 0 21
Baylor Miraca Genetics Laboratories, 18 1 1 0 0 0 0 20
Center for Human Genetics, Inc 10 4 4 1 0 0 0 19
Genetic Services Laboratory, University of Chicago 17 1 1 0 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 0 7 0 0 0 0 18
Center of Genomic medicine, Geneva,University Hospital of Geneva 12 5 0 0 0 0 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 5 9 2 0 0 16
Color 0 1 3 6 5 0 0 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 0 5 0 0 0 0 14
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 11 11
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 2 4 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 9 9
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 0 8
Genetics,Medical University of Vienna 0 8 0 0 0 0 0 8
CSER_CC_NCGL; University of Washington Medical Center 0 0 4 2 0 0 0 6
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 3 2 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 4 0 0 0 0 5
UniProtKB/Swiss-Prot 0 0 0 0 0 0 5 5
Institute of Human Genetics,Klinikum rechts der Isar 3 2 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 3 2 0 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 3 2 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 1 1 2 0 0 5
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 2 3 0 0 0 0 0 5
Institute of Human Genetics,University of Goettingen 1 2 1 0 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 2 0 1 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 4 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 3 0 1 0 0 0 0 4
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 3 0 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 0 0 3
Child and Family Research Institute 3 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 1 0 0 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 0 3
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 1 1 1 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 1 0 0 0 2
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 2 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 1 0 0 0 0 2
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 2 0 0 0 0 0 0 2
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine,University of Washington 1 1 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 0 1
Keegan Laboratory,University of Michigan 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 1
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 0 1
Centro de Genética y Biología Molecular,Universidad de San Martín de Porres 0 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 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

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