ClinVar Miner

Variants studied for congenital entropion

Included ClinVar conditions (42):
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
530 247 1150 474 415 9 2696

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KMT2D 318 180 255 153 84 3 923
ATP7A 31 4 136 141 52 0 363
SLC2A10 23 7 167 59 31 1 258
ATP6V0A2 13 1 99 9 42 0 163
ALDH18A1 14 6 98 28 18 1 158
EFEMP2 14 5 83 38 12 0 141
ELN 7 2 44 19 48 1 119
TP63 12 2 43 7 39 0 103
KDM6A 37 25 25 6 10 0 101
LTBP4 11 1 58 3 26 2 101
PYCR1 19 5 37 2 6 0 69
FBLN5 7 0 29 4 28 1 67
GORAB 7 3 42 2 12 0 66
EFEMP2, MUS81 1 0 21 1 3 0 24
RIN2 4 2 0 1 0 0 6
LOC111162620, TP63 0 0 4 0 1 0 5
ATP6V1A 2 0 2 0 0 0 4
TWIST2 3 0 0 0 0 0 3
ATP6V1E1 2 0 0 0 0 0 2
KMT2A 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ABCC6 1 0 0 0 0 0 1
ADCY6, ARF3, CACNB3, CCDC65, CCNT1, DDN, DDX23, FKBP11, KANSL2, KMT2D, PRKAG1, RHEBL1, RND1, WNT1, WNT10B 1 0 0 0 0 0 1
ALG1 0 0 0 0 1 0 1
ATP5MF-PTCD1, PTCD1 0 0 0 0 1 0 1
ATP6V0A2, TCTN2 0 0 0 0 1 0 1
B4GAT1, BANF1, BRMS1, C11orf68, CATSPER1, CCDC85B, CD248, CNIH2, CST6, CTSW, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, GAL3ST3, KLC2, LOC111413017, LOC112081411, LOC116216147, LOC116216148, MUS81, PACS1, RAB1B, RIN1, SART1, SF3B2, SNORD13F, TMEM151A, TSGA10IP, YIF1A 0 0 1 0 0 0 1
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRBOX4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 0 0 0 0 1
COL5A1 0 1 0 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 0 0 0 0 1
DNMT3B 0 0 1 0 0 0 1
EFEMP1 1 0 0 0 0 0 1
FAM120AOS 0 1 0 0 0 0 1
HCFC1 0 0 1 0 0 0 1
KMT2B 0 0 1 0 0 0 1
LOC111162621, TP63 0 0 0 1 0 0 1
SLC39A13 0 0 1 0 0 0 1
ZBTB24 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 169 39 462 362 162 0 1194
Illumina Clinical Services Laboratory,Illumina 1 1 496 67 245 0 810
Center for Human Genetics, Inc,Center for Human Genetics, Inc 16 94 40 23 1 0 174
Autoinflammatory diseases unit,CHU de Montpellier 106 22 0 0 0 0 128
OMIM 102 0 0 0 0 0 102
Genetic Services Laboratory, University of Chicago 51 7 29 0 0 0 87
Baylor Genetics 17 2 52 0 0 0 71
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 10 13 32 0 56
GeneReviews 44 0 0 0 9 0 53
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 5 19 2 1 0 31
Mendelics 7 1 8 8 1 0 25
Fulgent Genetics,Fulgent Genetics 3 0 22 0 0 0 25
Natera, Inc. 3 0 6 3 7 0 19
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 6 7 0 0 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 11 0 18
Institute of Human Genetics, University of Leipzig Medical Center 3 2 7 3 2 0 17
Shaikh Laboratory, University of Colorado 0 16 0 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 15 0 0 0 16
Institute of Human Genetics, Klinikum rechts der Isar 9 6 0 0 0 0 15
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 9 5 0 15
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 11 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 8 0 10
GenomeConnect, ClinGen 0 0 0 0 0 9 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 3 2 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 4 0 0 0 0 8
Clinical Genetics laboratory, University of Goettingen 3 3 1 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 6 1 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 4 0 1 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 4 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 2 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 6 0 1 0 0 0 7
New York Genome Center 0 0 7 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 3 0 6
Daryl Scott Lab,Baylor College of Medicine 4 1 1 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 5 0 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 2 0 0 0 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 1 0 0 0 0 5
Broad Institute Rare Disease Group, Broad Institute 0 0 3 0 2 0 5
Division of Biology and Genetics,University of Brescia 5 0 0 0 0 0 5
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 1 0 1 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 1 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 2 0 0 0 0 4
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 1 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Breda Genetics srl 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
Clinical Genomics Program, Stanford Medicine 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 0 2
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 1 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 1 0 0 0 2
DeNA Laboratory, DeNA Laboratory 0 1 1 0 0 0 2
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 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
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Myelin Disorders Clinic,Children's Medical Center 0 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Bjornsson Lab,Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1
Clinical Genetics,CHU Rennes 1 0 0 0 0 0 1
Department of Neonatology,Xingtai People's Hospital 1 0 0 0 0 0 1

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