ClinVar Miner

Variants studied for eyelid disorder

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
455 287 2329 1579 627 77 5127

Gene and significance breakdown #

Total genes and gene combinations: 80
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7A 63 76 419 829 134 1 1499
FRAS1 60 33 354 89 125 0 635
ALDH18A1 30 17 297 155 25 3 496
FREM2 20 15 290 62 83 0 457
SLC2A10 27 18 227 170 35 20 448
EFEMP2 21 13 128 145 18 9 306
ATP6V0A2 10 3 98 10 42 8 168
ELN 7 5 57 21 50 3 138
FOXL2 79 28 17 2 3 10 128
GRIP1 4 1 84 27 13 0 125
LTBP4 12 7 67 6 26 5 120
GORAB 9 5 63 3 14 0 91
PYCR1 21 13 38 3 8 1 82
FBLN5 7 0 36 4 27 8 72
CDH1 10 4 27 10 4 1 55
EFEMP2, MUS81 1 0 29 14 3 2 45
MID1 16 10 11 3 0 3 40
RIN2 4 2 7 9 3 0 23
HRAS, LRRC56 7 2 7 4 0 1 20
CTNND1, TMX2-CTNND1 7 5 4 0 1 0 16
KRAS 4 1 4 6 0 0 15
LOC126863207, MID1 4 7 3 0 1 0 14
FRAS1, LOC126807088 1 1 7 2 0 0 11
ATP6V0A2, LOC130009117 0 2 6 1 1 0 10
SPECC1L, SPECC1L-ADORA2A 0 2 4 0 3 0 9
ATP6V1A 2 2 2 1 0 0 7
​intergenic 2 2 2 0 0 0 6
ATP6V0A2, LOC126861666 0 1 3 0 1 1 5
ATP7A, PGK1 0 0 3 1 1 0 5
FRAS1, LOC126807089 1 1 1 0 2 0 5
LOC121627876, LTBP4 0 0 2 1 2 1 5
LOC130064475, LTBP4 3 0 2 0 0 0 5
LTBP1 4 2 0 0 0 0 5
ARID1B 4 0 0 0 0 0 4
EFEMP1 4 0 0 0 0 0 4
FREM2, LOC130009588 0 1 2 1 0 0 4
TWIST2 3 0 0 0 0 0 3
ATP6V1E1 2 0 0 0 0 0 2
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 1 0 0 0 2
LOC130061991, PYCR1 0 0 2 0 0 0 2
NRAS 1 0 1 0 0 0 2
ABCC6 1 0 0 0 0 0 1
ADAMTS14 0 0 1 0 0 0 1
AFF4, CCNI2, FSTL4, GDF9, HSPA4, IL13, IL4, IL5, IRF1, KIF3A, LEAP2, P4HA2, PDLIM4, RAD50, SEPTIN8, SHROOM1, SLC22A4, SLC22A5, SOWAHA, UQCRQ, ZCCHC10 0 0 1 0 0 0 1
AIPL1 0 0 1 0 0 0 1
ALDH18A1, ENTPD1, TCTN3 1 0 0 0 0 0 1
ALDH18A1, LOC121815958 1 0 0 0 0 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 0 0 1
ARID1B, SNX9, TMEM242, ZDHHC14 1 0 0 0 0 0 1
ASPA, SPATA22 0 0 1 0 0 0 1
ATP6V0A2, LOC130009117, TCTN2 0 0 0 0 1 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
B4GAT1, BANF1, BRMS1, C11orf68, CATSPER1, CCDC85B, CD248, CNIH2, CST6, CTSW, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, GAL3ST3, KLC2, LOC111413017, LOC112081411, LOC116216147, LOC116216148, LOC121832794, LOC124500674, LOC126861238, LOC130006078, LOC130006079, LOC130006080, LOC130006081, LOC130006082, LOC130006083, LOC130006084, LOC130006085, LOC130006086, LOC130006087, LOC130006088, LOC130006089, LOC130006090, LOC130006091, LOC130006092, LOC130006093, LOC130006094, LOC130006095, LOC130006096, LOC130006097, LOC130006098, LOC130006099, LOC130006100, LOC130006101, LOC130006102, LOC130006103, LOC130006104, LOC130006105, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, MUS81, PACS1, RAB1B, RIN1, SART1, SF3B2, SNORD13F, TMEM151A, TSGA10IP, YIF1A 0 0 1 0 0 0 1
BCLAF1 0 0 1 0 0 0 1
BORCS6 0 0 1 0 0 0 1
CDH1, LOC130059290 0 0 0 0 1 0 1
COL11A1 0 1 0 0 0 0 1
COL5A1 0 1 0 0 0 0 1
COL5A2 0 1 0 0 0 0 1
COPB2, MRPS22 1 0 0 0 0 0 1
FAM120AOS 0 1 0 0 0 0 1
GBE1 0 1 0 0 0 0 1
GNB5 0 0 1 0 0 0 1
HUWE1 0 0 1 0 0 0 1
KAT6B 0 1 0 0 0 0 1
LOC130064472, LTBP4 0 0 1 0 0 0 1
LOX, SRFBP1 0 1 0 0 0 0 1
LSM10 0 0 1 0 0 0 1
MED23 0 0 1 0 0 0 1
MPC1 0 0 1 0 0 0 1
MYO18B 0 0 1 0 0 0 1
ODAD1 0 0 1 0 0 0 1
PTCH1 0 0 1 0 0 0 1
SLC39A13 0 0 1 0 0 0 1
SMARCA2 0 1 0 0 0 0 1
TLCD3A 0 0 1 0 0 0 1
WDR81 0 0 1 0 0 0 1
XIRP2 0 0 1 0 0 0 1
ZXDA 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 132
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 104 33 935 1278 181 0 2531
Illumina Laboratory Services, Illumina 4 3 1037 156 413 0 1612
Fulgent Genetics, Fulgent Genetics 22 15 261 128 14 0 440
OMIM 132 0 0 0 0 0 132
Genome-Nilou Lab 1 1 32 2 86 0 122
Revvity Omics, Revvity 10 8 49 2 0 0 69
GeneReviews 2 0 0 0 2 60 64
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 38 8 13 1 2 0 62
Myriad Genetics, Inc. 0 61 0 0 0 0 61
Baylor Genetics 11 5 36 1 0 0 53
3billion 8 13 6 24 0 0 51
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 14 12 21 0 50
Wessex Regional Genetics Laboratory, Salisbury District Hospital 34 15 1 0 0 0 50
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 34 3 6 0 0 0 43
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 40 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 23 0 0 0 0 40
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 8 11 1 0 0 27
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 7 17 0 0 0 26
Natera, Inc. 3 0 6 3 7 0 19
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 19 0 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 12 0 0 0 18
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 11 0 17
Department of Molecular Bıology and Genetics, Istanbul Technical University 1 0 15 0 0 0 16
GenomeConnect, ClinGen 0 0 0 0 0 14 14
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 5 1 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 6 0 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 8 2 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 8 5 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 11 0 12
Mendelics 3 1 1 1 5 0 11
Neuberg Centre For Genomic Medicine, NCGM 1 1 9 0 0 0 11
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 7 0 0 0 0 9
New York Genome Center 0 0 9 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 4 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 6
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 2 2 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 2 0 4 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 3 0 1 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 1 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 3 0 0 0 5
Center for Medical Genetics Ghent, University of Ghent 4 1 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 3 0 0 0 5
Division of Biology and Genetics, University of Brescia 5 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 3 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 1 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 1 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 2 1 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 2 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 3 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Solve-RD Consortium 0 4 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 2 0 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 2 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 1 0 3
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 2 1 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 1 0 0 0 3
Molecular Genetics laboratory, Necker Hospital 0 3 0 0 0 0 3
Suma Genomics, Suma Genomics 2 0 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 1 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 2
Shieh Lab, University of California, San Francisco 2 0 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 2 0 0 0 0 2
Shaine Morris Lab, Baylor College of Medicine 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 0 1
Department of Prosthodontics, Peking University School and Hospital of Stomatology 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Laboratory of Genetics, AOUP, Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 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
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1
Myelin Disorders Clinic, Children's Medical Center 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Newman Lab, University of Manchester 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Obstetrics And Gynecology, 901th Hospital Of The Joint Service Of The People's Liberation Army 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1

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