ClinVar Miner

Variants reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129394
Total variants unanimously reported as pathogenic: 105340

Breakdown by submitter #

Total submitters: 1383
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Submitter Variants
Invitae 45562
OMIM 27931
GeneDx 15981
Ambry Genetics 9083
GeneReviews 5497
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 4906
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4728
Integrated Genetics/Laboratory Corporation of America 3848
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 3319
CeGaT Praxis fuer Humangenetik Tuebingen 3268
Baylor Genetics 3263
Quest Diagnostics Nichols Institute San Juan Capistrano 2596
Color Health, Inc 2508
ISCA site 1 2100
Genetic Services Laboratory, University of Chicago 2027
Mendelics 1947
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1854
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1698
Counsyl 1693
Athena Diagnostics Inc 1560
Natera, Inc. 1444
Research and Development, ARUP Laboratories 1340
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1324
Department of Pathology and Laboratory Medicine,Sinai Health System 1301
Fulgent Genetics,Fulgent Genetics 1254
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1197
Blueprint Genetics 1139
Institute of Human Genetics, Klinikum rechts der Isar 1086
Sharing Clinical Reports Project (SCRP) 963
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 913
Centre for Mendelian Genomics,University Medical Centre Ljubljana 911
Breast Cancer Information Core (BIC) (BRCA1) 846
ISCA site 4 832
Breast Cancer Information Core (BIC) (BRCA2) 795
Leiden Open Variation Database 785
Illumina Clinical Services Laboratory,Illumina 783
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 741
ISCA site 6 693
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 656
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 642
Institute of Human Genetics, University of Leipzig Medical Center 640
Lineagen, Inc 581
LDLR-LOVD, British Heart Foundation 576
Molecular Genetics Laboratory,Institute for Ophthalmic Research 550
NIHR Bioresource Rare Diseases, University of Cambridge 549
RettBASE 513
Genomic Research Center, Shahid Beheshti University of Medical Sciences 499
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 434
Medical & Molecular Genetics Group,University of Lincoln 429
CFTR-France 424
Collagen Diagnostic Laboratory,University of Washington 414
Paris Brain Institute,Inserm - ICM 392
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 389
Sharon lab,Hadassah-Hebrew University Medical Center 389
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 387
Myriad Women's Health, Inc. 380
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 368
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 367
CFTR2 359
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 343
Broad Institute Rare Disease Group, Broad Institute 325
Center for Human Genetics, Inc,Center for Human Genetics, Inc 324
ISCA site 19 321
Mayo Clinic Laboratories, Mayo Clinic 317
GenMed Metabolism Lab 317
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 316
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 299
Laboratory of Genetics in Ophthalmology,Institut Imagine 295
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 293
UW Hindbrain Malformation Research Program,University of Washington 293
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 290
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 284
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 279
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 264
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 262
Génétique des Maladies du Développement, Hospices Civils de Lyon 259
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 254
GeneKor MSA 244
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 240
Clinical Biochemistry Laboratory,Health Services Laboratory 238
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 236
Wessex Regional Genetics Laboratory,Salisbury District Hospital 233
Database of Curated Mutations (DoCM) 230
Diagnostic Laboratory, Strasbourg University Hospital 228
Institute for Human Genetics,University Clinic Freiburg 226
Center for Bioinformatics, Peking University 223
GenomeConnect - Simons Searchlight 222
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 220
Department of Medical Genetics, Oslo University Hospital 218
Centogene AG - the Rare Disease Company 217
ClinGen PAH Variant Curation Expert Panel 217
Biomedical Innovation Departament, CIEMAT 216
PreventionGenetics, PreventionGenetics 206
Center of Genomic medicine, Geneva,University Hospital of Geneva 205
Johns Hopkins Genomics, Johns Hopkins University 204
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 203
ISCA site 17 197
Center for Medical Genetics Ghent,University of Ghent 195
Undiagnosed Diseases Network,NIH 193
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 190
Medical Genomics Laboratory,Department of Genetics UAB 188
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 186
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 186
Genome Diagnostics Laboratory, The Hospital for Sick Children 185
Dan Cohn Lab,University Of California Los Angeles 183
Knight Diagnostic Laboratories, Oregon Health and Sciences University 180
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 175
Molecular Biology Laboratory, Fundació Puigvert 174
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 173
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 172
Gharavi Laboratory,Columbia University 168
CZECANCA consortium 168
ISCA site 8 164
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 161
Autoinflammatory diseases unit,CHU de Montpellier 154
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 149
Institute of Molecular, Cell and Systems Biology, University of Glasgow 146
SIB Swiss Institute of Bioinformatics 146
Ocular Genomics Institute, Massachusetts Eye and Ear 144
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 141
University of Washington Department of Laboratory Medicine, University of Washington 139
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 137
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 135
Faculty of Health Sciences,Beirut Arab University 134
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 132
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 131
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 131
Fundacion Hipercolesterolemia Familiar 129
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 125
Genomic Medicine Lab, University of California San Francisco 125
Stanford Center for Inherited Cardiovascular Disease, Stanford University 120
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 119
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 118
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 117
ISCA site 15 117
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 115
Genome Diagnostics Laboratory,University Medical Center Utrecht 115
University of Washington Center for Mendelian Genomics, University of Washington 115
Human Genetics - Radboudumc,Radboudumc 115
Medical Genetics, University of Parma 114
Department of Genetics,Sultan Qaboos University Hospital, Oman 112
Institute of Human Genetics,Cologne University 111
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 111
University Children's Hospital, University of Zurich 108
Sydney Genome Diagnostics,Children's Hospital Westmead 107
Constitutional Genetics Lab,Leon Berard Cancer Center 105
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 104
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 100
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 99
Wellcome Centre for Mitochondrial Research,Newcastle University 98
Division of Human Genetics,Children's Hospital of Philadelphia 98
Cavalleri Lab, Royal College of Surgeons in Ireland 98
Reproductive Health Research and Development,BGI Genomics 97
Department of Medical Sciences,Uppsala University 95
Yale Center for Mendelian Genomics,Yale University 92
Michigan Medical Genetics Laboratories,University of Michigan 90
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 88
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 87
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 87
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 87
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 86
Service de Génétique Moléculaire,Hôpital Robert Debré 84
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 84
ISCA site 14 82
International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota 82
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 81
Laboratory of Prof. Karen Avraham,Tel Aviv University 80
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 79
Division of Human Genetics,Medical University Innsbruck 78
Center for Statistical Genetics, Columbia University 77
Medical Genetics Laboratory,CHRU Nancy 76
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 75
Laboratory of Medical Genetics, INSERM 75
Department of Molecular and Human Genetics, Baylor College of Medicine 74
ClinGen RASopathy Variant Curation Expert Panel 74
PXE International 73
Pathway Genomics 73
Laboratoire de Génétique Moléculaire, CHU Bordeaux 73
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 72
SNPedia 70
ClinGen CDH1 Variant Curation Expert Panel 68
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 68
King Laboratory,University of Washington 67
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 67
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 67
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 67
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 67
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 66
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 66
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 65
Genologica Medica 63
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 63
Laboratory of Neurogenetics and Neuroinflammation,Institut Imagine 63
Molecular Genetics Laboratory,London Health Sciences Centre 62
UCLA Clinical Genomics Center, UCLA 62
National Institute on Deafness and Communication Disorders,National Institutes of Health 61
Department of Pathology and Molecular Medicine,Queen's University 61
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 61
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 61
Center for Human Genetics,University of Leuven 60
Section on Medical Neuroendocrinolgy,National Institutes of Health 59
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 59
Genomic Center,National Cancer Institute 59
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 58
3DMed Clinical Laboratory Inc 57
APRT Deficiency Research Program of the Rare Kidney Stone Consortium,Landspitali, National University Hospital of Iceland 57
Medical Molecular Genetics Department, National Research Center 56
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 56
Hereditary Research Laboratory, Bethlehem University 54
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 53
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 52
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 52
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 50
Urologic Oncology Branch,National Institutes of Health 50
Department of Ophthalmology and Visual Sciences Kyoto University 48
Inherited Neuropathy Consortium 48
Neuromuscular Research,Maastricht University Medical Centre 48
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 47
Elsea Laboratory,Baylor College of Medicine 47
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 46
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 46
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 46
Laboratory of Metabolic Disorders, Peking University First Hospital 45
Department of Psychiatry,Nagoya University 44
ISCA site 2 44
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 44
Department of Pediatrics, Gifu University 44
Institute for Human Genetics, University Hospital Essen 44
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 43
Daryl Scott Lab,Baylor College of Medicine 43
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 42
Centre of Medical Genetics, University of Antwerp 42
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 42
Institute of Medical Sciences, Banaras Hindu University 42
Richard Lifton Laboratory, Yale University School of Medicine 41
Kasturba Medical College, Manipal University 41
Iberoamerican FH Network 41
MyeliNeuroGene Lab,McGill University Health Center Research Institute 39
CSER _CC_NCGL, University of Washington 39
Dobyns Lab,Seattle Children's Research Institute 39
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 39
New York Genome Center 39
Claritas Genomics 38
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 38
ClinGen PTEN Variant Curation Expert Panel 38
Precision Medicine Center,Zhengzhou University 38
Centre for Genomic and Experimental Medicine,University of Edinburgh 37
Institute of Human Genetics,University of Wuerzburg 37
Division of Medical Genetics, University of Washington 36
Centre for Human Genetics 35
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 34
Clinical Genomics Program, Stanford Medicine 34
Clinical Genetics laboratory, University of Goettingen 33
Herman Laboratory,Nationwide Children's Hospital 33
Rare Disease Group, Clinical Genetics,Karolinska Institutet 33
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 33
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 33
Eye Genetics Research Group,Children's Medical Research Institute 32
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 32
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 31
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 31
Kariminejad - Najmabadi Pathology & Genetics Center 30
Biology Pathology Center,Lille University Hospital 29
Molecular Pathology, SA Pathology 29
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 29
Breda Genetics srl 29
MAGI's Lab - Research,MAGI Group 29
Neurogenetics Laboratory - MEYER,AOU Meyer 28
Department of Immunology and Histocompatibility, University of Thessaly 28
Center of Medical Genetics and Primary Health Care 27
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 26
American College of Medical Genetics and Genomics (ACMG) 26
Clinical Genetics Research Group, University of Calgary 26
Donald Williams Parsons Laboratory,Baylor College of Medicine 26
Robarts Research Institute,Western University 26
Ege University Pediatric Genetics,Ege University 26
ClinGen Hearing Loss Variant Curation Expert Panel 26
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 26
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 26
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 26
Institute of Medical Molecular Genetics, University of Zurich 25
ClinVar Staff, National Center for Biotechnology Information (NCBI) 25
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 25
Embryology Laboratory,Victor Chang Cardiac Research Institute 25
Molecular Biology Laboratory, University of Basrah 25
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 25
ClinGen Myeloid Malignancy Variant Curation Expert Panel 25
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 24
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 24
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 24
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 24
SBielas Lab, Department of Human Genetics,University of Michigan 24
Molecular Genetics laboratory,Necker Hospital 24
Anophthalmia/Microphthalmia Research Registry,Einstein Medical Center Philadelphia 24
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 23
Hadassah Hebrew University Medical Center 23
Cirak Lab,University Hospital Cologne 23
True Health Diagnostics 23
Genetics Department,Polish Mother's Memorial Hospital Research Institute 23
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 23
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 22
Neurogenetics Research; Murdoch Childrens Research Institute 22
Academic Department of Medical Genetics, University of Cambridge 22
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità 22
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 22
Yang An-Suei Laboratory,Academia Sinica 22
CMT Laboratory,Bogazici University 22
Klein lab, Ludwig-Maximilians-University 21
Tulane Cancer Center,Tulane University 21
Albrecht-Kossel-Institute,Medical University Rostock 21
Rui Chen Lab,Baylor College of Medicine 21
Muenke lab,National Institutes of Health 21
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 21
Department of Human Genetics, University Hospital Magdeburg 21
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 20
Birmingham Platelet Group; University of Birmingham 20
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 20
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 20
Bioinformatics dept.,Datar Cancer Genetics Limited, India 20
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 20
Liping Wei Laboratory,Peking University 20
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 20
Biochemistry Laboratory of CDMU,Chengde Medical University 20
Sydney Children's Hospital, SCHN 19
SingHealth Duke-NUS Institute of Precision Medicine 19
Raymond Lab,University of Cambridge 19
Kids Research, The Children's Hospital at Westmead 19
Medical Affairs,Enzyvant 19
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 19
Section for Clinical Neurogenetics,University of Tübingen 19
Molecular Diagnostics Laboratory,Seoul National University Hospital 18
Cytogenetics and Genomics Laboratory,University of Washington 18
Cytogenetics Laboratory,Banaras Hindu University 18
Dept of Medicine and Surgery, University of Milano-Bicocca 18
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 18
Division of Medical Genetics; Sainte-Justine Hospital 18
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 18
Genetics Department,University Hospital of Toulouse 18
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 18
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 18
Uitto Lab,Thomas Jefferson University 18
Polak associated Lab,IMAGINE Institute 18
Center for Reproductive Medicine, Peking University Third Hospital 18
The Center for Liver Diseases, Children's Hospital of Fudan University 18
Genetics Institute, Tel Aviv Sourasky Medical Center 18
Division of Biology and Genetics,University of Brescia 18
Willoughby Group, Queen's University Belfast 17
NeuroMeGen,Hospital Clinico Santiago de Compostela 17
Genetic Diagnostic Laboratory,University of Szeged 17
Department of Immunology,Hospital Universitario Virgen del Rocio 17
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 17
Laboratory of Medical Genetics, University of Torino 17
Core Molecular Diagnostic Lab, McGill University Health Centre 17
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 17
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 17
Stankiewicz Research Laboratory, Baylor College of Medicine 17
Institute of Vision Research, Yonsei University College of Medicine 17
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 17
Institute of Human Genetics, University Hospital Jena 16
MVZ Dr. Eberhard & Partner Dortmund 16
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 16
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 16
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 16
Center for Advanced Diagnostics,Brigham and Women's Hospital 16
Medical Genetics Laboratory,Tarbiat Modares University 16
Constantin Polychronakos Laboratory,The Research Institute of the McGill University Health Centre 16
Institute of Genomics,University of Tartu 16
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul 16
Endocrinology Clinic, Seth G.S. Medical College 15
Shanghain Institute for Pediatric Research 15
Department of Genetics,Robert DEBRE University Hospital 15
INSERM U1051, Institut des Neurosciences de Montpellier 15
Neurogenetics Laboratory,Royal Perth Hospital 15
ISCA site 3 15
Bone Marrow Failure laboratory,Queen Mary University London 15
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 15
Translational Genomics Laboratory,University of Maryland School of Medicine 15
Institute of Reproductive and Stem Cell Engineering,Central South University 15
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 15
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University 15
Medical Genetics Laboratory, West China Hospital, Sichuan University 15
Department of Medical Genetics,Faculty of Medicine, Istanbul University 15
LifeCell International Pvt. Ltd 15
Shieh Lab,University of California, San Francisco 15
Loeys Lab,Universiteit Antwerpen 15
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 14
Department of Prosthodontics,Peking University School and Hospital of Stomatology 14
Whole genome laboratory; Baylor College of Medicine 14
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 14
HerediLab, Inc. 14
Central Research Laboratory,Sri Devaraj Urs Academy of Higher Education and Research 14
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 14
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 14
ClinGen TP53 Variant Curation Expert Panel,ClinGen 14
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 13
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 13
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 13
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 13
Demoulin lab,University of Louvain 13
Academic Center for Education, Culture and Research, Motamed Cancer Institute 13
Reproductive Development, Murdoch Childrens Research Institute 13
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 13
Codex Genetics Limited 13
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 13
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology 13
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 13
Huiwen Zhang's lab,Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 13
Laboratory of Biomedical Genomics and Oncogenetics,Institut Pasteur de Tunis 13
Institute of Human Genetics,University Hospital Ulm 12
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 12
Centre for Genetic Disorders, Banaras Hindu University 12
Pediatric Department, Peking University First Hospital 12
TIDEX, University of British Columbia 12
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 12
GeniaGeo, Laboratorio Genia 12
Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 12
Marseille Medical Genetics, U1251,Aix Marseille University, Inserm 12
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 12
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 12
Pediatrics, MediClubGeorgia 12
Human Developmental Genetics Laboratory,Medical College of Wisconsin 11
Laboratory of Human Genetics,Universidade de São Paulo 11
Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale 11
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 11
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 11
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 11
Department of Ophthalmology,Flinders University 11
GenePathDx,Causeway Health Care Private Ltd 11
The Genetics Institute,Rambam Health Care Campus 11
Clinical Genetics Group,University of Otago 11
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 11
Neurogenetics,IRCCS Istituto delle Scienze Neurologiche di Bologna 11
Child Health and Human Development Program,Research Institute of the McGill University Health Center 11
ISCA site 11 10
Leeds Vision Research Group,University of Leeds 10
Clinical Genetics, Erasmus University Medical Center 10
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 10
Hereditary Hearing Loss Research Unit,University of Madras 10
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 10
Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine 10
Institute for Genomic Medicine, Nationwide Children's Hospital 10
Genetics of Infertility and Preimplantation Genetic Diagnosis,Centre Hospitalier Universitaire Grenoble Alpes 10
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 10
Human Genetics Group at Institute of Prion Diseases London,University College London 10
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 10
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 10
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 10
Molecular Oncology Research Center,Barretos Cancer Hospital 10
National Institute of Neuroscience,National Center of Neurology and Psychiatry 10
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University 9
ISCA site 10 9
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 9
Department of Medical Genetics, Faculty of Medicine,Ege University 9
Genome Sciences Centre,British Columbia Cancer Agency 9
Gene Discovery Core-Manton Center,Boston Children's Hospital 9
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health 9
Medical Research Institute,Tokyo Medical and Dental University 9
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 9
Neurology Department,Peking University First Hospital 9
MVZ Praenatalmedizin und Genetik Nuernberg 9
Department of Genetics,Fundacion Jimenez Diaz University Hospital 9
Institute of Medical Genetics,University of Zurich 9
Laboratoire de Genetique Biologique, CHU de Poitiers 9
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 9
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 9
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 9
Cole/Wambach Lab,Washington University in St. Louis 9
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 9
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 9
Genomics Facility,Ludwig-Maximilians-Universität München 9
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir 9
Ding PR Lab,Sun Yat-sen University Cancer Center 9
Nilou-Genome Lab 9
Amsterdam Leukodystrophy Center,Amsterdam UMC 9
Physiology,Radboud University Medical Center 9
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8
Versiti Diagnostic Laboratories,Versiti, Inc 8
Northcott Neuroscience Laboratory, ANZAC Research Institute 8
National Institute of Mental Health and Neurosciences 8
Dr. Faghihi's Medical Genetic Center 8
Neurogenetics of motion laboratory,Montreal Neurological Institute 8
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini 8
Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University 8
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 8
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 8
Center for Genomic Medicine,Kyoto University Graduate School of Medicine 8
Phosphorus, Inc. 8
Department of Animal Sciences,Quaid-i-Azam University 8
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 8
Snyder Lab, Genetics Department,Stanford University 8
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 8
Degerman lab,Umeå University 8
Center of Medical Genetics,Central South University 8
Medical Genetics,Necip Fazıl Sehir Hastanesi 8
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 8
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 8
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 8
Women's and Children's Health,University of Otago 8
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 8
Neil Romberg Laboratory, Children's Hospital of Philadelphia 8
MNM Diagnostics 8
Human Developmental Genetics,Institut Pasteur 8
The Core Laboratory in Medical Center of Clinical Research,Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 8
Engle Laboratory,Boston Children's Hospital 7
Medical Genetics Laboratories, Baylor College of Medicine 7
Samuels research lab,Centre de Recherche du CHU Ste-Justine 7
Genomics and Pathology Services,Washington University in St.Louis 7
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 7
Paul Sabatier University EA-4555, Paul Sabatier University 7
Vantari Genetics 7
Neurogenetics group,VIB, Antwerp, Belgium 7
Blood Cell Research,Sanquin 7
Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire,Strasbourg University - CNRS UMR 7104 - Inserm U 964 7
Division of Rheumatology, Allergy and Immunology, UCSD 7
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 7
Neurometabolisches Labor,University hospital Tuebingen 7
Working Group: Pediatric metabolic liver diseases,University Hospital Heidelberg 7
Center for Precision Medicine,Vanderbilt University Medical Center 7
Department of Neurology,Taipei Veterans General Hospital 7
Division of Genetic Medicine, Lausanne University Hospital 7
Coyote Medical Laboratory (Beijing),Coyote 7
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 7
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 7
Molecular Therapies Laboratory,Murdoch University 7
Pediatric Nephrology Laboratory,The University of Tokyo Hospital 7
Departement d'Immunology Plaquettaire,Institut National de la Transfusion Sanguine 7
Department of Prosthodontics, School and Hospital of Stomatology,Hebei Medical University and Hebei Key Laboratory of Stomatology 7
Laboratory of Molecular Genetics,Children's Memorial Health Institute 7
Genetics Program,Instituto Nacional de Cancer 7
School of Computer Science,University of Waterloo 7
FirmaLab,FirmaLab 6
Fujian Institute of Hematology,Fujian Medical University 6
Faculty of Pharmacy, Ain Shams University 6
Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas 6
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 6
Bonnen Lab,Baylor College of Medicine 6
Institute of Human Genetics, Uniklinik RWTH Aachen 6
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 6
Translational Genetics in Neurodegenerative disease,Karolinska Institutet 6
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 6
Curoverse 6
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 6
Aziz Sancar Institute of Experimental Medicine,Istanbul University 6
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 6
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 6
Clinical Genetics Laboratory of Dermatology,Peking University First Hospital 6
Molecular Genetics and Enzymology,National Research Centre 6
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 6
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 6
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 6
Molecular Medicine,University of Leeds 6
Schule lab,Hertie Institute for Clinical Brain Research 6
Carola Vinuesa Lab,John Curtin School of Medical Research 6
Wendy Chung Laboratory,Columbia University Medical Center 6
IRCCS Fondazione Stella Maris,University of Pisa 6
Lab of Molecular Oncology,Sapienza University of Rome 6
Molecular Dermatology Lab,Tel Aviv Sourasky Medical Center 6
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics,Hospital Universitario Hospital La Paz 6
Klaassen Lab,Charite University Medicine Berlin 6
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 6
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit,IRCCS Fondazione Stella Maris 6
Department of Medical Genetics,Hue University of Medicine and Pharmacy 6
Sayer Lab, Translational and Clinical Research Institute,Newcastle Unversity 6
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 6
Medical Molecular Genetics,University of Birmingham 5
Centre de Biotechnologie de Sfax,Université de Sfax 5
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 5
Centre for Translational Omics - GOSgene,University College London 5
David Geffen School of Medicine,University of California, Los Angeles 5
Division of Blood Purification,Kakanzawa University’ 5
Molecular and Medical Genetics Group,King's College London 5
Brain and Spine Institute,INSERM 5
Human Genetics Disease in Children – Taif University,Taif University 5
Department of Medical Genetics, National Institute of Health 5
Research Group Niklas Dahl,Uppsala University 5
Department of Medical Genetics,Gazi University 5
Institute of Experimental Endocrinology,Slovak Academy of Sciences 5
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 5
Gansu Province Medical Genetics Center 5
Molecular Medicine Center, Medical University of Sofia 5
Neurogenetics Research Program, University of Adelaide 5
Medgenome Labs Pvt Ltd 5
Wangler Lab,Baylor College of Medicine 5
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 5
Rizzo Lab,University of Nebraska Medical Center 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5
Biologia e Medicina Molecolare, Sapienza University of Rome 5
Medical Genetics Laboratory,Bambino Gesù Children's Hospital 5
Ute Scholl Laboratory,Heinrich Heine University Duesseldorf 5
Genetics Division,Universidade Federal de Sao Paulo 5
Pediatric Metabolic Diseases,Hacettepe University 5
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 5
College of Science, Al Muthanna University,Al Muthanna University 5
Neuromuscular Diagnostic Laboratory,American University of Beirut Medical Center 5
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 5
The Raphael Recanati Genetics Institute,Rabin Medical Center 5
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 5
Belal Azab Laboratory,The University of Jordan 5
Human Genetics Department,Tarbiat Modares University 5
Daan van Aalten Lab,University of Dundee 5
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School 5
Cancer Genomics Group,Japanese Foundation For Cancer Research 5
Biochemistry Laboratory,Bechir Hamza Children's Hospital 5
Unidade de Eritropatologia e Metabolismo do Ferro,Centro Hospitalar e Universitário de Coimbra 5
Molecular Diagnosis Center for Deafness 5
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 5
Biological Sciences,International Islamic University, Islamabad 5
Godley laboratory, The University of Chicago 5
Breast Center,Key Laboratory of Carcinogenesis and Translational Research 5
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 5
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory,Brigham and Women's Hospital 4
HFI Laboratory at Boston University,Boston University 4
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4
Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) 4
Department of Immunology, Genetics and Pathology, Uppsala University 4
Elahi Laboratory, University of Tehran 4
Genetics Research Lab, Taif University 4
UF de Génétique Moléculaire,Hôpital Lariboisière 4
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 4
Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 4
Congenital Heart Disease Genetic Program Lab,American University of Beirut 4
Simons Lab, The University of Queensland 4
National Center for Biotechnology Information, National Institutes of Health 4
ISCA site 7 4
CHU Sainte-Justine Research Center,University of Montreal 4
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 4
Puck Laboratory, University of California, San Francisco 4
Department of Biochemistry,Quaid-i-Azam University 4
Harry Perkins Institute of Medical Research,University of Western Australia 4
Department of Medical Biology, Academic Medical Center 4
Language and Genetics Department,Max Planck Institute for Psycholinguistics 4
Oral and Maxillofacial Surgery,Tokyo Medical and Dental University 4
Kruer lab,Phoenix Children's Hospital 4
McDonnell Genome Institute,Washington University in St. Louis 4
Hospital of the University of Pennsylvania,Center for Personalized Diagnostics 4
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 4
Institut Pasteur du Maroc 4
National Research Council,Institute of Genetics and Biomedical Research 4
Weber Lab,Hannover Medical School 4
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 4
The Morris Kahn Laboratory of Human Genetics,Ben-Gurion University of the Negev 4
Biotechnology Research Center,Pasteur Institute of Iran 4
Applied Translational Genetics Group,University of Auckland 4
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 4
Institute of Cellular and Molecular Medicine,Copenhagen University 4
Institute of Human Genetics Greifswald, Research Division,University Medicine Greifswald 4
Department of Immunology,University Hospital Southampton NHSFT 4
Cormier-Daire Lab,IMAGINE 4
National Molecular Genetics Centre of Cancer Research,N.N. Alexandrov National Cancer Centre of Belarus 4
Laboratory for Cytogenetics and Genome Research,KU Leuven 4
Children's Hospital of Soochow University,Soochow University 4
Department of Hematology,303rd Hospital of the People's Liberation Army 4
Dept. of Medical Genetics, Telemark Hospital Trust 4
Ali Lab, Centre for Genetic Disorders,Banaras Hindu University 4
Zeviani Lab,University of Cambridge 4
HSP Biomedical Diagnostics Department,Hospital San Pedro 4
Medical Genetics Department,University Hospital Nantes, CHU Nantes 4
Genetics Laboratory, Department of Biology,Semnan University 4
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 4
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 4
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 4
Centre de recherche St Antoine, Sorbonne Université, INSERM,Sorbonne University 4
San Raffaele Telethon Institute for Gene Therapy,San Raffaele Hospital 4
Neuromuscular and Neuropediatric Research Group,Germans Trias i Pujol Research Institute 4
Mani Lab, Yale Cardiovascular Research Center,Yale University 4
Bertuch Lab,Baylor College of Medicine 4
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 4
The Cell Therapy Center,The University of Jordan 4
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 4
Bone sarcomas and remodeling of calcified tissues,INSERM 4
Krakow/Cohn Lab,University of California, Los Angeles 4
Department of Haematogenetics,ICMR National Institute of Immunohaematology 4
Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia 4
Genetics and Genomics Program,Sidra Medicine 4
Department of Biochemistry, Faculty of Medicine, University of Khartoum 4
Department of Molecular Biology and Genetics,Istanbul Technical University 4
Medicover Genetics GmbH,Medicover Humangenetik Berlin-Lichtenberg MVZ 4
Centro de Biología Molecular Severo Ochoa,Universidad Autónoma de Madrid 4
Department of Neurology,Kindai University 4
Division of Genetics, Dept of Pediatrics,All India Institute of Medical Sciences 4
Medical Genetics,CHU Nice 4
Department of Pathophysiology and Transplantation,University of Milan 4
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases,University of Belgrade, School of Medicine 4
Department of Medical Laboratory Science, Faculty of Allied Health Sciences,University of Peradeniya 4
Department of Hepatology,Children's Hospital of Fudan University 4
Department of Pediatric Genetics,Istanbul University - Cerrahpasa 4
Inflammatory Disease Section/Clinical Genetics Service,National Human Genome Research Institute 3
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 3
Sema4,Sema4 3
DLE - Diagnosticos Laboratoriais Especializados 3
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 3
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 3
Northern Blood Research Centre, University of Sydney 3
Centre of Chronic Immunodeficiency, Freiburg University 3
Mayo Muscle Lab, Mayo Clinic 3
Lab of Dermatology,Peking University First Hospital 3
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 3
Molecular Genetics and RNA Biology,University of Milan 3
Human Genetics,Philipps Universitaet Marburg 3
Medical Genetic Department,Shiraz University Of Medical Science 3
E. Rossignol Lab,CHU Ste-Justine, Universite de Montreal 3
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd 3
Science and Research Branch, Islamic Azad University,Islamic Azad University 3
Department of Pediatrics,Kobe University 3
Molecular Genetics and RNA Biology, Humanitas University 3
Department of Neurology, University Hospital of Strasbourg 3
Child and Family Research Institute 3
Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro 3
Department of Clinical Genetics,Oxford University Hospitals NHS Trust 3
Endocrine Unit 2,University Hospital of Pisa 3
Center for Molecular Medicine,Karolinska Institute 3
Laboratorio de Medicina Genomica, Hospital General de Culiacan 3
Veritas Genetics,Veritas Genetics 3
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 3
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine,University Medical Center Freiburg 3
Genomic Medicine Lab,University of Southampton 3
Garry R Cutting Laboratory,Johns Hopkins University 3
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 3
Department of Research and Development,Institute Hermes Pardini 3
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 3
Laboratory of Molecular Genetics,National Institutes of Health 3
Neuromuscular disorders lab,University of Helsinki 3
Laboratorio de Genetica do Desenvolvimento - CEGH,Universidade de Sao Paulo 3
Medical Genetics, University of Pavia 3
Beijing Municipal Key Laboratory,Capital Institute of Pediatrics 3
Cardiovascular Research Laboratory,Shanghai Chest Hospital, Shanghai Jiao Tong University 3
Christopher A. Walsh Laboratory,Boston Children's Hospital 3
MRC Institute of Genetics and Molecular Medicine,University of Edinburgh 3
Shenzhen Key Laboratory of Neurogenomics, Beijing Genomics Institute Research,Beijing Genomics Institute 3
Heart Center,Academic Medical Center Amsterdam 3
Hauner Childrens Hospital, Department of Pediatrics,Dr. von Hauner Children's Hospital; Ludwig Maximilians University 3
Tim Yu lab,Boston Children's Hospital 3
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 3
Laboratory of Genetic Skeletal Anomaly,Seoul National University Children's Hospital 3
Columbia University Medical Center,Columbia University 3
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 3
Molecular Oncology Laboratory,Hospital Clínico San Carlos 3
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital 3
The Translational Medicine Center of Children Development and Disease,Fudan University 3
Fundació de Recerca de l'Institut de Microcirurgia Ocular 3
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 3
Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center 3
Molecular ImmunoRheumatology UMRS_1109,Institut national de la santé et de la recherche médicale 3
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 3
Xenon Pharmaceuticals, Inc. 3
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 3
The Genetic Institute, Ha'emek Medical center,Ha'emek Medical Center 3
Dental Genetics Laboratory,Seoul National University School of Dentistry 3
Amyloidosis Center,Boston University School of Medicine 3
Division of Molecular Medicine,Faculty of Medicine Siriraj Hospital, Mahidol University 3
CIViC knowledgebase,Washington University School of Medicine 3
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 3
Dept of Genetics,Assistance Publique-Hôpitaux de Paris (APHP) - R DEBRE University Hospital 3
Papaemmanuil Lab,Memorial Sloan Kettering Cancer Research Center 3
Western Connecticut Health Network,Rudy L. Ruggles Biomedical Research Institute 3
Wu Jinyu Laboratory, Institute of Genomic Medicine,Wenzhou Medical University 3
Institute of Reproductive Genetics, University of Münster 3
Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital 3
Leeds Institute of Medical Research,University of Leeds 3
Stem Cell Engineering Center,Hunan Guangxiu Hospital 3
School of Medicine,Marmara University 3
Stefan Somlo Laboratory,Yale School of Medicine 3
GBinsight Genetic Testing by GB HealthWatch,Genben Lifesciences Corporation 3
Klinisk genetik och genomik Research,Gothenburg University 3
Clinical Genomics Unit,Sheba Medical Center 3
Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center,Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 3
Molecular Oncology Initiative,University of California, San Francisco 3
Institute of Medical Genetics,ASUI Udine 3
Molecular Cardiogenetic Lab,Hospices Civils de Lyon 3
Swedish Neurofibromatosis Center,Swedish Medical Center 3
UCSF Pediatric Lipid Clinic, University of California, San Francisco 3
University Health Network,Princess Margaret Cancer Centre 3
Department of Medical Genetics,Hunan Provincial Maternal and Child Health Care Hospital 3
MedGen Diagnostic Laboratory,MedGen Medical Centre 3
Fundacion Favaloro,PRICAI 3
Center of Excellence for Medical Genomics, Chulalongkorn University 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 3
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 3
Heon Lab,The Hospital for Sick Children 3
The William Harvey Research Institute,Queen Mary University 3
Department of Urology, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 3
Department of Ophthalmology,California Pacific Medical Center 3
Arkana Molecular Diagnostic Laboratory,Arkana Laboratories 3
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 3
Institute of Molecular Biology and Genetics,National Academy of Sciences of Ukraine 3
Zarate Arkansas Children's Genetics Clinic,Arkansas Children's Hospital 3
Center for Bone Health,The Children's Hospital of Philadelphia 3
Functional Genomics Laboratory, Institute of Genome Research 3
Institute of Biochemistry and Biotechnology,Faculty of Life Sciences, University of the Punjab 3
Pediatric Endocrinology Clinic,Ege University School of Medicine 3
Medical Genetic Department,The Affiliated Hospital of Qingdao University 3
Massachusetts General Hospital Undiagnosed Diseases Network,Massachusetts General Hospital 3
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 3
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 3
Gleeson Lab,University of California San Diego - Department of Neuroscience 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 2
Genetics - Viapath,Viapath, Guy's Hospital 2
Medical Genetics Institute,Shaare Zedek Medical Center 2
Department of Neurology The University of Tokyo, Graduate School of Medicine 2
Institut für Integrative und Experimentelle Genomik, Universität zu Lübeck 2
DNA Repair Laboratory,Institute of Biomedical Sciences - University of Sao Paulo 2
Nyegaard lab; Aarhus University 2
Rajkovic Lab, University of Pittsburgh 2
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 2
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 2
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences,The Chinese University of Hong Kong, Hong Kong 2
FORGE Canada,Children's Hospital of Eastern Ontario 2
Department of Immunology, School of Medicine,Complutense University 2
Molecular Neurogenomics lab,VIB Department of Molecular Genetics; University of Antwerp 2
Akiko Shimamura Lab,Fred Hutchinson Cancer Research Center 2
Duke University Health System Sequencing Clinic,Duke University Health System 2
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center 2
Lyon Laboratory, Cold Spring Harbor Laboratory 2
Institute of Experimental Medicine, Department of Genetics,Istanbul University 2
Center for Human Genetics,University Hospitals Case Medical Center/Case Western Reserve University 2
FRIGE's Institute of Human Genetics 2
Metabolic Research Unit,Children's University Hospital Muenster 2
Miami Human Genetics,University of Miami Miller School of Medicine 2
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS 2
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 2
Department of Medical Genetics,University of Szeged 2
Erez Levanon lab,Bar Ilan University 2
Choi Lab,Seoul National University 2
emedgene Technologies 2
Laboratory of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital 2
Kangwon National University Hospital 2
Department of Oral Pathology,Peking University School and Hospital of Stomatology 2
Department of Ophthalmology,Flinders Medical Centre 2
Universitätsklinikum Salzburg,Universitätskinderklinik 2
Sharon E. Plon Laboratory,Baylor College of Medicine 2
Paisan-Ruiz Laboratory,Icahn School of Medicine at Mount Sinai 2
University of Arizona Genetics Core,University of Arizona 2
Central Haematology Laboratory,Luzerner Kantonsspital 2
Medical Genetics Section,University of Rome Tor Vergata 2
Shendure Lab,University of Washington 2
Medical Genetics,Nice Hospital - IRCAN 2
Department of Metabolic Diseases,Wilhelmina Children's Hospital 2
American University of Beirut,Same Uiversity Hospital 2
Biochimie Génétique et moléculaire, CHUGA 2
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 2
Human Genetics Unit,University of Colombo 2
Cardiogenetics,Center of Medical Genetics, Antwerp, Belgium 2
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 2
Rappaport Faculty of Medicine,Technion-Israel Institute of Technology 2
Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 2
Heinzen Lab,Columbia University 2
Biochimie-Hormonologie,Robert Debre Hospital 2
Leeds Institute of Biomedical and Clinical Sciences,University of Leeds 2
KK Women’s and Children’s Hospital 2
Laboratory of Molecular Biology and Genetics,St Antoine Hospital - APHP 2
Nöthen Lab, Institute of Human Genetics,University Hospital Bonn 2
Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility,Centro di Riferimento Oncologico 2
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 2
National Reference Laboratory of Biochemistry,Pasteur Institute of Iran 2
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 2
Sandor Lifesciences Pvt Ltd 2
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 2
Santos-Cortez Lab,University of Colorado School of Medicine 2
Servicio Extremeño de Salud,Hospital de Mérida 2
Laboratory of Jean-Laurent Casanova,The Rockefeller University 2
Noncommunicable Diseases Research Center,Fasa University of Medical Sciences 2
Dept of Molecular Biology and Genetics,Bogazici University 2
Flegel Lab,National Institutes of Health 2
Antonellis Laboratory at Michigan,University of Michigan 2
Cincinnati Center for Growth Disorders,Cincinnati Children's Hospital Medical Center 2
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 2
Clinical genetics,CHU Grenoble-Alpes 2
Hunan Clinical Research Center of Ophthalmic Disease,The Second Xiangya Hospital 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2
Institutes of Biomedical Sciences,Shanxi University 2
Yong Feng Lab,Central South University 2
Genomic Medicine Laboratory,University of Vermont Medical Center 2
Clinical Bioinformatic Lab,Royan Institute 2
Endocrinology Department, First Hospital Of Shanxi Medical University 2
Department of Pathology and Genetics,University of Gothenburg 2
Pediatric Genomics Discovery Program,Yale University 2
Pfaffle Lab, University Hospital for Children and Adolescents,University of Leipzig 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2
Tampere Brain Tumor Research Consortium,University of Tampere 2
Metabolic Disease laboratory,Sheba Medical Center 2
Stephanie Ware Laboratory,Indiana University School of Medicine 2
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 2
Cancer Diagnostics Division,Gene Solutions 2
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 2
Immunology Clinic,UCLA 2
Human Genetics Laboratory,Faculty of Medicine of Tunis 2
Division of Paediatric Endocrinology and Diabetes,University of Luebeck 2
Lab. Molecular Oncology,VUB, Free University of Brussels 2
Comparative, Adaptive and Functional Skeletal Biology,CCMAR - University of Algarve 2
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 2
laboratory of biochemistry,Caen University Hospital 2
Department of Medical Genetics,College of Basic Medicine, Army Medical University 2
The Division of Genetics and Genomic Medicine,Washington University School of Medicine 2
Genatak 2
State Key Laboratory Of Oral Diseases,Sichuan University 2
Institute of Human Genetics,Heidelberg University 2
University of Malaya Medical Center,University of Malaya 2
Department of Medical Biology, Faculty of Medicine,Hacettepe University 2
Michigan Center for Translational Pathology,University of Michigan 2
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 2
Human Cancer Genomic Research,King Faisal Specialist Hospital and Research Center 2
Medical Genetic Team,CHRU Montpellier 2
Human Genetics Laboratory,State University of Rio de Janeiro 2
ACT Genomics, 2
Faculty of Allied and Health Sciences,Imperial College of Business Studies 2
Molecular Haematology Laboratory,NSW Health Pathology 2
Harbour Laboratory,University of Miami Miller School of Medicine 2
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 2
Center of Human Genetics, Erasme Hospital 2
Clinical Genetics Research Group,Karolinska Institutet 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 2
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 2
SavaGenome Genetic Health Clinic 2
Tan Tock Seng Hospital,National Healthcare Group 2
Wang Lab, Institute of Neuroscience, Xiamen university 2
Department of Maternal-Fetal Biology,National Research Institute for Child Health and Development 2
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute,Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University 2
Finnell Lab,Baylor College of Medicine 2
Research Centre for Medical Genetics,Federal State Budgetary Scientific Institution 2
Genetics,INEBIR 2
Mount Sinai Diagnostic Laboratory,Icahn School of Medicine at Mount Sinai 2
Lab of Endocrine and Metabolic Research,Istituto Auxologico Italiano 2
van Oers lab,UT Southwestern Medical Center 2
Dr Sami Ulus Medical Genetics Department,Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases 2
Molecular Medicine,University of Pavia 2
Laboratory of Human Molecular Genetics,Petersburg Nuclear Physics Institute named by B.P.Konstantinov of NRC "Kurchatov Institute" 2
NYU Undiagnosed Diseases Program,NYU School of Medicine 2
Moosajee Lab,UCL Institute of Ophthalmology 2
Institute of Clinical Laboratory Science,Nanjing University Affiliated Jinling Hospital 2
Human Genetic Laboratory,University of Liege 2
Clinical Genomics Laboratory,AiLife Diagnostics 2
Liver Center,Tokai University School of Medicine 2
Molecular Genetics Laboratory Heidelberg, Heidelberg University 2
Koker Lab, University of Erciyes Medical School 2
Medical Genetics Unit,Sapienza University of Rome 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana,FISABIO Oftalmología Médica 2
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 2
Limin Genodermatosis Research Center,The First Affiliated Hospital of Soochow University 2
Department of Cell Biology,School of Life Sciences, Central South University 2
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 2
RBC Disorders, Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 2
Department of Pediatrics,The First Affiliated Hospital, Jinan University 2
Laboratory for Bone and Joint Diseases,RIKEN 2
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 2
Henan Ocular Pharmacology and Therapeutics International Laboratory,Henan Provincial People’s Hospital 2
Aleixo Muise Laboratory, The Hospital for Sick Children 2
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases,The First People’s Hospital of Yunnan Province 2
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 2
Department of Medical Laboratory,Affiliated Hospital of Southwest Medical University 2
Genetics and Personalized Medicine,Danish Epilepsy Center 2
Centre for Human Genetics, University of Kinshasa 2
Rare Diseases Lab,University of Vigo 2
Department of Pediatric Neurology and Endocrinology,Affiliated Hospital of Qingdao University 2
Hematopathology,The University of Texas M.D. Anderson Cancer Center 2
Rare Disease Research Group,Islamia College Peshawar 2
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1
Clinical Molecular Diagnostic Laboratory,City of Hope National Medical Center 1
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 1
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1
Laboratory of genome diagnostics,Academic Medical Center, University of Amsterdam 1
Department of Medical Genetics - Wuyts Lab,Antwerp University Hospital 1
Northern Molecular Genetics Service,Newcastle Upon Tyne Hospitals NHS Foundation Trust 1
MGZ Medical Genetics Center 1
Laboratory for Study of Mitochondrial Disorders,Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague 1
Neuromuscular Disease Laboratory,Mayo Clinic College of Medicine 1
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel 1
Health in Code S.L. 1
Garg Lab, Nationwide Children's Hospital 1
dbVar 1
CVG, University of British Columbia 1
Department of Neuroscience, King Faisal Specialist Hospital 1
Department of Medicine, University of Cambridge 1
Dept of Medical Genetics; Shandong University 1
State Key Lab of Medical Genetics, Central South University 1
University of Washington School of Medicine 1
Genetic Testing Lab, University of Kentucky College of Medicine 1
Ahituv Lab,University of California San Francisco 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1
Faculty of Health Sciences-Genetics Diagnosis Lab,Islamic University of Gaza 1
Alzheimer's disease and other cognitive disorders unit,Hospital Clínic de Barcelona_IDIBAPS 1
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital 1
Molecular Genetics and Enzymology, National Research Centre 1
TilsonLab,Columbia University 1
Chehab Lab, University of California, San Francisco 1
Laboratório de Genética Humana e Médica, Universidade Federal do Pará 1
Department of Neurology,Children's Hospital of Fudan University 1
U955 Equipe 11,INSERM 1
Shaikh Laboratory, University of Colorado 1
McDonald Lab; Albert Einstein College of Medicine 1
Department of Human Genetics,McGill University 1
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1
Glaucoma Genetics Lab,University of Iowa 1
Department of Endocrinology and Metabolism,The First Affiliated Hospital of Sun Yet-sen University 1
School of Biological Sciences, University of the Punjab 1
Institute of Human Genetics,FAU Erlangen-Nuremberg 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 1
Molecular and pathophysiological bases of cognitive disorders,Institute Imagine 1
Baylor College of Medicine 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 1
The Canberra Hospital 1
Research lab,Institute of Genetics and Molecular and Cellular Biology 1
Medical Genetics and Functional Genomics Laboratory,Aix-Marseille University 1
Mutsuddi Laboratory, Department of Molecular and Human Genetics,Banaras Hindu University 1
Center for Individualized Medicine,Mayo Clinic 1
Servicio inmunologia,Hospital 12 de Octubre 1
Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 1
Human Molecular Genetics Lab,Quaid-I-Azam University 1
Department of Genetics,Yale University 1
Geha Laboratory, Boston Childrens Hospital 1
Molecular Metabolic laboratory,Sheba Medical Center Tel-Hashomer 1
Institute of metabolic science 1
Thoracic Oncology,University of Hawaii Cancer Center 1
Center for Medical Genomics, Jagiellonian University Medical College 1
Department of Clinical Genetics,Tartu University Hospital 1
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences 1
Max Planck Institute for Molecular Genetics 1
Centro Hospitalar S Joao,Faculty of Medicine of Porto 1
Institute of Human Genetics,Martin-Luther-Universität Halle-Wittemberg 1
Institute for Clinical Genetics, TU Dresden 1
Karsan Lab,BC Cancer Agency 1
Research Centre for Medical Genetics 1
Agency for Science, Technology and Research,Genome Institute of Singapore 1
Department of Pediatrics,1st Faculty of Medicine, Charles University in Prague 1
Center for Human Disease Modeling,Duke University Medical Center 1
BioTalentum Ltd. 1
Human Genetics Research Group, DBT,Shri Mata Vaishno Devi University 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 1
Sankaran Lab,Boston Children's Hospital 1
Institute of Human Genetics,LMU University Hospital 1
Toronto General Hospital,University of Toronto 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1
Department of Women and Children's Health,University of New South Wales 1
Australian Red Cross Blood Service 1
University of Bologna, Medical Genetics Unit,University of Bologna 1
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 1
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University 1
Human Genetics and Genome Research Division,National Research Centre 1
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University 1
School of Life Sciences,Manipal University 1
Children's Hospital DNA Laboratory,University Medical Center Goettingen 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 1
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 1
MS Genetics Lab,University of British Columbia 1
Department of Cardiovascular and Internal Medicine,Kanazawa University Graduate School of Medicine 1
Inherited Metabolic Diseases Molecular Laboratory,University of Cape Town / National Health Laboratory Services 1
Geschwind lab,University of California Los Angeles 1
Medical Genetic Institute of Henan Province,Henan Provincial People’s Hospital 1
MIND Institute, Wet lab,University of California Davis 1
Marco Cassone, Clinical geneticist 1
Dipartimento di Medicina Molecolare e Biotecnologie Mediche,Federico II University of Naples 1
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 1
Medical Genetics Unit,Zeynep Kamil Women and Children's Hospital 1
Medical Genetics,Meyer Children Hospital 1
Thoracic and Gastrointestinal Oncology Branch/CCR/NCI,NIH 1
Childrens Diabetes Center,University of Wisconsin-Madison 1
Programa de Ciencias Genomicas e Biotecnologia,Universidade Catolica de Brasilia 1
Pediatrics Research Institute,Children's Hospital of Fudan University 1
Genetics of Mitochondrial Disorders,HelmholtzZentrum Munchen 1
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 1
GENETICS INSTITUTE,National university of Colombia 1
Aziz Sancar Institute of Experimental Medicine, Department of Genetics,Istanbul University 1
Molecular Diagnostics Lab,GoPath Laboratories 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 1
Zuffardi lab,University of Pavia 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1
Lab of Molecular Dermatology,University Medical Center Freiburg 1
Center for Breast Cancer,National Cancer Center 1
Human Development and Health,University of Southampton 1
National Centre for Medical Genetics,Crumlin Children's Hospital, Dublin 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1
Pôle de Biologie Pathologie Génétique,CHRU LILLE 1
Hunter Genetics General Clinical Genetics Service,Hunter Genetics 1
Zhongshan School of Medicine,Sun Yat-Sen University 1
Division of Laboratory Medicine and Clinical Genetics,Chiba University Hospital 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 1
Genetic Laboratory,Instituto Nacional de Cancer 1
Center for Basic Medical Research,TEDA International Cardiovascular Hospital 1
Maesawa Lab,Iwate Medical University 1
Laboratorio de Polimorfismos e Ligação,Universidade Federal do Parana 1
Cancer Prevention Center, Yonsei Cancer Center,Severance Hospital, Yonsei University College of Medicine 1
Mahdieh Medical Diagnostic Center, Falavarjan Branch, Islamic Azad University 1
Medical Genetics Laboratory,Aldo Moro University of Bari 1
Clinical Genetics,Charité Universitaetsmedizin Berlin 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center.,Columbia University Medical Center 1
Fundacion Publica Galega de Medicina Xenomica,Servicio Galego de Saude 1
Biocant - Biotechnology Innovation Center 1
Reichenberger Lab, Center for Regenerative Medicine and Skeletal Development,UConn Health Center 1
Molecular Medicine Research Center,University of Cyprus 1
Department of Laboratory Medicine,Daejeon St. Mary’s Hospital 1
Division of Genomics,Kyushu university 1
Limoges University Hospital Laboratory,Limoges University Hospital 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 1
Zheng Lab,Zhongnan Hospital of Wuhan University 1
Noruzinia Laboratory,Tarbiat Modares University 1
Genetics of Cognitive Dysfunction Laboratory,I3S-IBMC, University of Porto 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 1
Molecular Laboratory of the Institute of Human Genetics,Galilee Medical Center 1
Gujarat Genomics Initiative,Gujarat State Biotechnology Mission 1
Mitochondrial Research Group,Murdoch Children's Research Institute 1
Genetics of Mitochondrial Diseases,Imagine Institute 1
Laboratorio de Citogenómica y Microarreglos,Universidad Autonoma de Nuevo Leon 1
Center for Medical Genetics, Keio University School of Medicine 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 1
Zi-Jiang Chen Lab,Shandong University 1
New Leaf Center 1
StellarGene Technologies Pvt. Ltd. 1
Genetic Research,Kawsar Human Genetics Research Center 1
Anoual Laboratory of Radio-Immuno Analysis 1
Laboratory of Molecular Pathology,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1
David Buchner Laboratory,Case Western Reserve University 1
Mark LeDoux Lab, University of Tennessee Health Science Center 1
Emory University School of Medicine, Department of Human Genetics,Emory University 1
Pediatrie Multidisciplinaire,Assitance Publique des Hopitaux de Marseille 1
Medical Institute of Bioregulation,Kyushu university 1
Department of Pediatrics,Uniklinik RWTH Aachen 1
Department of Laboratory Medicine, Kangbuk Samsung Hospital,Sungkyunkwan University School of Medicine 1
Fukami Lab, Dept of Molecular Endocrinology,National Research Institute for Child Health and Development 1
Edmonton Ocular Genetics,Alberta Health Services 1
Laboratory for Animal Genetics,Ghent University 1
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 1
Jacobi Internal Medicine Residency Program,Jacobi Medical Center 1
Omics Laboratory,Stanford University 1
Clinical Genetics Department,Hospital Sant Joan de Deu 1
Molecular Diagnostics Laboratory,Nadiya Clinic of Reproductive Medicine 1
Warsaw Genomics 1
Center of Excellence in Medical Genetics Research,Chiang Mai University 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 1
Piracicaba Dental School,University of Campinas 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1
Carson lab,Ohio State University Comprehensive Cancer Center 1
Hwa Lab, Division of Endocrinology, Cincinnati Children's Hospital Medical Center,University of Cincinnati College of Medicine 1
Paediatric Endocrinology - Genetics and Genomic Medicine Program,University College London - Great Ormond Street Institute of Child Health 1
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 1
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 1
Hb Lab, Kinderklinik Ulm,University Hospital Ulm 1
Weiss Lab,University of Miami 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1
Medical Genetics,Hospital Clinico Universitario Virgen de la Arrixaca 1
Fan Lab,Zhengzhou University 1
Functional Genomic Platform,Centre National pour la Recherche Scientifique et Technique 1
Department of Clinical Laboratory,Peking University People's Hospital 1
Bondeson Group,Uppsala University 1
MK Azim Lab,Mohammad Ali Jinnah University 1
Laboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica,Instituto Nacional de Medicina Genómica 1
InterGenetics 1
Department of Eugenics & Genetics,Women & Infants Hospital of Zhengzhou 1
Australian Inherited Retinal Disease Registry & DNA Bank,Sir Charles Gairdner Hospital 1
Tehran Medical Genetics Laboratory 1
Klco Lab,St Judes Childrens Research Hospital 1
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 1
Genetics and Genomics, Alberta Children's Hospital 1
DNA Laboratuvarlari GHTM 1
Institute of Human Genetics,Martin Luther University Halle-Wittenberg 1
Laboratory of Molecular Genetics,Shanghai Jiao Tong University School of Medicine and Shanghai Institutes for Biological Sciences 1
Unit of Genetics of Neurodegenerative and Metabolic Disease,Fondazione IRCCS Istituto Neurologico Carlo Besta 1
Cancer Genomics Laboratory, Texas Children's Hospital 1
Department of Endocrinology and Genetic Metabolic Diseases,Children’s Hospital of Chongqing Medical University 1
Nalepa Lab,Indiana University School of Medicine 1
Institute of Experimental Epileptology and Cognition Research,University of Bonn 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 1
Renal Department,Renmin Hospital of Wuhan University 1
Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631,University hospital of Copenhagen, Rigshospitalet 1
Research Institute,National Research Institute for Child Health and Development 1
Pediatrics Department,University of Wisconsin 1
Bio-informatics Data Center,China National GeneBank 1
Institute of Cell Biology and Neurobiology,Charite - Universitaetsmedizin Berlin 1
Knight Cancer Institute, Oregon Health and Science University 1
Bezmialem Vakif University, Medical Faculty 1
Lab of Gastroenterology,College of Medicine, First Affiliate Hospital of Zhejiang University 1
Franklin by Genoox 1
Pediatric Department,The First Affiliated Hospital of Guangxi Medical University 1
Hakim Medical Genetics Center Laboratory,Neyshabur University of Medical Sciences 1
Pediatric Leukemia/Lymphoma,Memorial Sloan Kettering Cancer Center 1
Department of Pediatrics,Driscoll Children's Hospital 1
Genetic Services Unit,National Institute of Biomedical Genomics 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 1
Translational Oncology and Experimental Therapeutics Program-IBMCC,Consejo Superior de Investigaciones Científicas 1
Grupo de Pesquisa Clinica e Molecular em Endocrinologia e Metabologia 1
Gregorio Maranon General University Hospital,Gregorio Maranon Health Research Institute 1
Center for Medical Genetics,GenVams Trust 1
Sadaf Naz Human Genetics Laboratory,University of the Punjab 1
Medical Genetics,American University of Beirut 1
Division of Critical Care, Department of Pediatrics,Cardinal Glennon Children's Hospital 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 1
Laboratory of Molecular Genetics,Yakut Science Centre of Complex Medical Problems 1
Department of Neurology,Hospital Garcia de Orta 1
Genetics Service, Department of Paediatrics,KK Women's and Children's Hospital 1
Department of Neurology,The Third Xiangya Hospital, Central South University 1
Children’s Hospital, Clinical research laboratory,Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden 1
Biologie des Tumeurs Solides,CHU de Montpellier 1
Swiss DNAlysis 1
Department of Human Anatomy, Histology and Embryology;Department of Pathology,Peking University Health Science Center 1
Department of Pediatrics,University of Ottawa 1
Institute of Bioinformatics 1
The Fourth Military Medical University,School of Stomatology 1
Thoracic Oncology Service,Memorial Sloan Kettering Cancer Center 1
Routes Lab,Medical College of Wisconsin 1
Laboratory for Clinical Genomics and Advanced Technology,Dartmouth-Hitchcock Medical Center 1
Center for Studies on Hereditary Cancer,University of Bologna 1
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease 1
Laboratory of Genetics and Genomics,Institute for Developing Science and Health Initiatives Foundation 1
Department of Medical Genetics,Ahvaz Jundishapur University of Medical Sciences 1
Pediatric Neurology,Northwest Women’s and Children’s Hospital 1
Child Neurology Division, Pediatrics Department,KAHER's Jawaharlal Nehru Medical College, Belagavi 1
Prenatal Diagnostic Center,Guangzhou Women and Children's Medical Center 1
Clinical Genetics,University of Leipzig 1
Department of Ophthalmology,Fourth Military Medical University 1
Division of Neonatology,National Center for Child Health and Development 1
Developmental Disorders Research,Mater Research 1
Division of Genome Diagnostics,Radboud University Medical Centre 1
Center of Clinical Laboratory, Zhongshan Hospital,School of Medicine, Xiamen University 1
Neurology,Jichi Medical University 1
University of Iowa Renal Genetics Clinic,University of Iowa 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1
UOSA Diagnostica Molecolare e Genomica,IRCCS Policlinico Agostino Gemelli 1
Biesecker Lab Rare Disease,National Institutes of Health 1
UCSD Department of Pediatrics,University of California, San Diego 1
Paediatric Orthopaedics Research Lab,Christian Medical College 1
Cancer Genetics Service,National Cancer Centre Singapore 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1
Hematology and Blood Transfusion,Iran University of Medical Sciences 1
John Walton Muscular Dystrophy Research Centre, Newcastle University 1
Bjornsson Lab,Johns Hopkins University School of Medicine 1
The Genetics Institute,Kaplan Medical center 1
Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital,Mahidol University 1
Cellular and Molecular Biology Laboratory,University of Campania Luigi Vanvitelli 1
Cardiogenomic Section,Hospital Ramos Mejia 1
Department of Medical Genetics,Nizam's Institute of Medical Sciences 1
Laboratory for Population and Evolutionary Genetics,University of Puerto Rico at Mayaguez 1
Biochemical Genetics Department,Cyprus Institute of Neurology and Genetics 1
School of Life Sciences,Central South University 1
Cardiology Department, Xiangya Hospital, Central South University 1
Department of Genetic Research,Imam Abdulrahman Bin Faisal University 1
Cardiovascular Genetics and the Laboratory of Forensic Genetics,Cyprus Institute of Neurology and Genetics 1
College of Medicine Research Centre,King Saud Univeristy 1
Cancer medicine,Gaomi People's Hospital 1
Neurology Institute,Anhui University of Chinese Medicine 1
Matlow's Ophthalmo-genetic Laboratory,Assaf Harofe Medical Center 1
National Institute for Data Science in Health and Medicine, School of Medicine,Xiamen University 1
Clinical Genetics Center,Tokyo Medical University Hospital 1
Laboratory of Cellular Biochemistry and Molecular Biology,Catholic University 1
Indiana University School of Medicine, Medical & Molecular Genetics, Indiana University School of Medicine 1
Farrar Lab, Smurfit Institute of Genetics,Trinity College Dublin 1
Department of Pediatrics, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 1
Clinical Genetics Branch, National Institutes of Health 1
Clinical Cytogenetics Laboratory,London Health Science Centre 1
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine,UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1
Cardiovascular Medicine,National Cerebral Cardiovascular Center 1
Laboratory of Molecular Medicine of IMOMA,Instituto de Medicina Oncológica y Molecular de Asturias 1
Department of biochemistry and genetics, Arak University of Medical sciences 1
Center for Computational Genomics and Data Science,University of Alabama 1
Laboratorio de Medicina Genomica,Instituto Nacional de Rehabilitacion Luis Guillermo Ibarra Ibarra 1
Cytogenomics Laboratory,University of Sao Paulo 1
Department of Translational Medicine, University of Naples Federico II 1
Kowloon West Cluster Laboratory Genetic Service,Princess Margaret Hospital 1
The Walter and Eliza Hall Institute of Medical Research 1
Center for Reproductive Medicine,University of Science and Technology of China 1
Children's Cancer Therapy Development Institute 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1
Medical Genetics,Spectrum Health 1
Laboratory of Medical Genetics,Tor Vergata University 1
Center for Inherited Cardiovascular Diseases,IRCCS Fondazione Policlinico San Matteo 1
Department of Neurology,National Cerebral and Cardiovascular Center 1
Platelet Disorders/Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center, U Cincinnati College of Medicine 1
Robert's Program,Boston Children's Hospital 1
Pediatric Oncology, Johns Hopkins University 1
Genetics Laboratory, Life Sciences Research Department, Aswan Heart Research Centre 1
Cardiology unit,Meyer University Hospital 1
Research Center for Genetics and Reproductive Health,Viet Nam National University HCMC 1
St George's Genomics Service,St George's University Hospitals NHS FT 1
Internal Medicine,University of Pretoria 1
Molecular Genetics Laboratory,CHU Lille 1
Shen Lab,Columbia University Medical Center 1
Molecular Genetics Laboratory,Motol Hospital 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1
DESAM Institute,Near East University 1
Pediatric Neurology,Rutgers New Jersey Medical School 1
Central Laboratory,The First Hospital of Lanzhou University 1
Laboratory of Molecular Regulation of Neurogenesis,University of Liege 1
Department of Pediatrics,University Hospital Center Zagreb 1
Turvey Lab,BC Children's Hospital Research Institute 1
Neurology Department,The First Affiliated Hospital of Zhengzhou University,Zhengzhou University 1
Excellence Center for Genomics and Precision Medicine,King Chulalongkorn Memorial Hospital 1
Tongji Hospital, Huazhong University of Science and Technology 1
Unidad de Genetica,Hospital Roberto del Rio 1
Institute for Pathophysiology,Universitaetsmedizin JGU Mainz 1
Ro'ya Specialized Medical Laboratories,King Abdulaziz University 1
Obstetrics and Gynecology,Juntendo university 1
Population Bio, Inc. 1
Department of Transfusion Medicine,Fujian Provincial Hospital 1
Personalis, Inc. 1
Biochemistry and Molecular Biology,CHU de Limoges 1
CNRS UMR1283,Université de Lille 1
Rare Disease Institute,Children's National Hospital 1
Turner Lab,Washington University in St. Louis 1
Central Lab,Second People's Hospital of Yunnan Province 1
Molecular Diagnostics Lab,Aalborg University Hospital 1
Department of Pediatrics,Prince of Songkla University 1
Biotechnology Lab, Dept of Biomolecular Sciences, University of Urbino 1
Molecular Genetics Laboratory,Biocruces Bizkaia Health Research Institute 1
Clinical Genetics,CHU Rennes 1
Clinical Genomics and Bioinformatics Laboratory,Pirogov Russian National Research Medical University 1
Molecular Section,Niloo Genom lab 1
Laboratory of Genomics, College of Natural Sciences,Kyungpook National University 1
Centro de Registro e Investigacion sobre Anomalias Congenitas,Hospital Civil de Guadalajara Dr. Juan I. Menchaca 1
Oncogenetique constitutionnelle,Hopital Bichat 1
Alibakhshi Medical Genetics Laboratory,Kermanshah University of Medical Sciences 1
Malcovati Lab, University of Pavia 1
Department of Neurosurgery,Peking University First Hospital 1
NPCF Sunshine Lab,H. Lee Moffitt Cancer Center and Research Institute 1
Department of Cell and Molecular Biology,Manipal School of Life Sciences,Manipal Academy of Higher Education 1
Medical Genetics Department, and Science and Technology Unit,Umm-al-Qura University 1
Department of Pediatrics,Asahikawa Medical University 1
Pars Genome Lab 1
Department of Pediatrics,University of Modena and Reggio Emilia 1
Department of Neonatology,Xingtai People's Hospital 1
Department of Hand Surgery, Beijing Jishuitan Hospital 1
Institute of Molecular Medicine and Oncology,Chongqing Medical University 1
UOS Fisiopatologia delle Anemie,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1
Gastroenterology Department,Qilu Hospital of Shandong University 1
Department of Clinical Biochemistry,University General Hospital Attikon, Medical School, National & Kapodistrian University of Athens 1
Pediatric Hematology-Oncology Program,Instituto Nacional de Cancer 1
Division of Human Genetics,University of Cape Town 1
Reproduction Medicine Center,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 1
Genomic Medicine,Universita Cattolica del Sacro Cuore 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University,Chulalongkorn University 1
Research Unit of Respiratory Disease,The Second Xiangya Hospital of Central South University 1
Gene Mapping Laboratory,Hacettepe University 1
Laboratory of Molecular Genetics and Genomics,Rennes University Hospital 1
Department of Genetics,University Medical Center Utrecht 1
Medical Genetics Lab, Xi'an Fourth Hospital 1
Department of Medical Oncology,City of Hope 1
Pediatric Neurology and Rare Diseases Department, Hospital Sant Joan de Deu 1
Clinica Universidad de La Sabana,Universidad de La Sabana 1
Laboratorio de Investigacion Basica Clinica,Universidad Autonoma de Nuevo Leon 1
Department of Heart Center,Qingdao Women and Children's Hospital 1
Laboratorios - Biologia Molecular Oncohematologica,Hospital Privado Universitario de Cordoba 1
Precision Medical Center,Wuhan Children's Hospital 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 1
Department of Molecular Cytogenetics,Toyko Medical and Dental University 1
Rudy L. Ruggles Biomedical Research Institute,Danbury Hospital 1
Department of Stomatology,Sichuan Provincial People’s Hospital 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 1
Human Genetics Research Center,Baqiyatallah University of Medical Sciences 1
Institute of Biomedical Sciences, Faculty of Medicine,Vilnius university 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1
Dermatology Genetics Laboratory, Dalhousie University 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 1
Rossjohn lab,Monash University 1
Department of Neurogenetics,Institute for Communicative and Cognitive Neurosciences 1
Greehey Children's Cancer Research Institute,UT Health San Antonio 1
Department of Human Genetics,University of the Free State 1
Division of Clinical Genetics, Department of Laboratory Medicine,University of Debrecen 1
Genetics Department,Hospital Ramon y Cajal-IRYCIS 1
Laboratory of Reproductive Genetics,Women’s Hospital, School of Medicine, Zhejiang University 1
Genetic Disease Research Branch / Genetics Development and Disease Section,National Human Genome Research Institute 1
Liaoning Provincial Key Laboratory of Endocrine Diseases,The First Hospital of China Medical University 1
Department of Clinical Genetics and Genetic Counseling,Mediscan Systems 1
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 1
Laboratory of Transmission, Control and Immunobiology of Infections,Institut Pasteur de Tunis 1
Geriatric Neurology,Shaanxi Provincial People's Hospital 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery,The Second Xiangya Hospital of Central South University 1
Molecular Pathology Laboratory,Viapath at King's College Hospital 1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province,The First People's Hospital of Yunnan Province 1
Clinical Genetics Department,Johns Hopkins All Children's Hospital 1
Beijing Obstetrics and Gynecology Hospital,Capital Medical University 1

Breakdown by condition #

Total conditions: 9242
Download table as spreadsheet
Condition Variants
not provided 32907
Hereditary cancer-predisposing syndrome 7649
See cases 6512
Hereditary breast and ovarian cancer syndrome 3485
Breast-ovarian cancer, familial 2 2978
Breast-ovarian cancer, familial 1 2800
Inborn genetic diseases 1943
Neurofibromatosis, type 1 1932
Hereditary nonpolyposis colorectal neoplasms 1683
Familial hypercholesterolemia 1 1556
Lynch syndrome 1398
Familial cancer of breast 1275
Ataxia-telangiectasia syndrome 1153
Duchenne muscular dystrophy 1123
Alport syndrome 1, X-linked recessive 840
Retinal dystrophy 821
Cystic fibrosis 776
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 734
not specified 718
Familial adenomatous polyposis 1 688
Primary ciliary dyskinesia 684
Retinitis pigmentosa 595
Early infantile epileptic encephalopathy with suppression bursts 588
Hypertrophic cardiomyopathy 528
Fanconi anemia 512
Ehlers-Danlos syndrome, type 4 469
Rare genetic deafness 465
Cardiovascular phenotype 462
Tuberous sclerosis 2 459
Fanconi anemia, complementation group A 456
Marfan syndrome 412
Rett syndrome 404
none provided 402
Primary pulmonary hypertension 1 397
Phenylketonuria 385
Long QT syndrome 363
Bardet-Biedl syndrome 352
Familial hypercholesterolemia 349
Intellectual disability 348
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 344
Osteogenesis imperfecta type I 325
Hereditary factor VIII deficiency disease 320
Nemaline myopathy 2 318
Severe myoclonic epilepsy in infancy 316
Malignant tumor of breast 312
PTEN hamartoma tumor syndrome 305
Carcinoma of colon 302
Retinoblastoma 291
Li-Fraumeni syndrome 283
Spastic paraplegia 277
beta Thalassemia 277
Gorlin syndrome 273
Spastic paraplegia 4, autosomal dominant 269
Breast and/or ovarian cancer 266
CHARGE association 259
Cornelia de Lange syndrome 1 258
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 256
Sotos syndrome 1 256
Polycystic kidney disease, adult type 254
Neoplasm of ovary 253
Glycogen storage disease, type II 249
Cohen syndrome 243
Autosomal recessive polycystic kidney disease 242
Alstrom syndrome 237
Wilson disease 233
Charcot-Marie-Tooth disease, type 2 232
Familial cancer of breast; Fanconi anemia, complementation group J 232
Tuberous sclerosis 1 225
Kabuki syndrome 1 224
Spastic paraplegia 11, autosomal recessive 221
Biotinidase deficiency 220
Multiple congenital exostosis 209
Rasopathy 206
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 204
Fabry disease 203
Von Hippel-Lindau syndrome 202
Multiple endocrine neoplasia, type 1 197
Hereditary diffuse gastric cancer 196
RYR1-Related Disorders 191
Non-ketotic hyperglycinemia 188
Steinert myotonic dystrophy syndrome 187
Primary hyperoxaluria, type I 183
Laminin alpha 2-related dystrophy 179
Polycystic kidney disease 178
Joubert syndrome; Meckel-Gruber syndrome 177
Microcephaly, normal intelligence and immunodeficiency 176
Very long chain acyl-CoA dehydrogenase deficiency 176
Aniridia 1 171
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 169
Rubinstein-Taybi syndrome 1 167
Fumarase deficiency 166
Bethlem myopathy 1 164
Propionic acidemia 161
Cardiomyopathy 160
Glycogen storage disease type III 160
Familial X-linked hypophosphatemic vitamin D refractory rickets 158
Limb-girdle muscular dystrophy, type 2A 158
Generalized juvenile polyposis/juvenile polyposis coli 156
Telangiectasia, hereditary hemorrhagic, type 2 155
Breast neoplasm 154
Qualitative or quantitative defects of dysferlin 152
Primary autosomal recessive microcephaly 5 151
Bloom syndrome 150
Renal cysts and diabetes syndrome 150
Angelman syndrome 149
Charcot-Marie-Tooth disease type 4 148
Multiple fibrofolliculomas 148
Hereditary hemorrhagic telangiectasia 147
Severe X-linked myotubular myopathy 146
Niemann-Pick disease type C1 145
Mucopolysaccharidosis, MPS-II 143
Charcot-Marie-Tooth disease 141
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 141
Adrenoleukodystrophy 140
Dystrophic epidermolysis bullosa 139
Leber congenital amaurosis 139
Early infantile epileptic encephalopathy 2 138
Peutz-Jeghers syndrome 137
Stargardt disease 1 137
Baller-Gerold syndrome 133
Familial thoracic aortic aneurysm and aortic dissection 133
Hereditary factor IX deficiency disease 133
Werner syndrome 133
Mowat-Wilson syndrome 132
Autosomal recessive retinitis pigmentosa 131
Nephronophthisis 131
Early infantile epileptic encephalopathy 9 130
Hereditary hemorrhagic telangiectasia type 1 130
Brugada syndrome 129
Joubert syndrome 128
Autosomal recessive congenital ichthyosis 2 127
Maple syrup urine disease 127
Neuronal ceroid lipofuscinosis 127
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 123
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 122
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 121
Severe neonatal-onset encephalopathy with microcephaly 121
Kabuki syndrome 120
Benign familial neonatal seizures 1 119
Ellis-van Creveld syndrome; Curry-Hall syndrome 119
Jeune thoracic dystrophy 118
Noonan syndrome 117
Orofaciodigital syndrome I 117
Usher syndrome, type 2A 117
Medium-chain acyl-coenzyme A dehydrogenase deficiency 116
MYH-associated polyposis 115
Metachromatic leukodystrophy 115
Tay-Sachs disease 115
Hypohidrotic X-linked ectodermal dysplasia 114
Lynch syndrome I 114
Mental retardation, autosomal dominant 5 114
Progressive sclerosing poliodystrophy 113
Hereditary Paraganglioma-Pheochromocytoma Syndromes 112
Alexander Disease 111
Ehlers-Danlos syndrome, classic type 111
Rolandic epilepsy 111
Tumor susceptibility linked to germline BAP1 mutations 111
Charcot-Marie-Tooth disease, type I 110
KBG syndrome 109
Beckwith-Wiedemann syndrome 106
Renal carnitine transport defect 106
Arrhythmogenic right ventricular dysplasia 9 105
Lynch-like syndrome 105
Glutaric aciduria, type 1 102
Neurofibromatosis, type 2 101
Mucolipidosis type II 100
Alagille syndrome 1 98
Fanconi anemia, complementation group O 98
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 98
Cerebral cavernous malformation 96
History of neurodevelopmental disorder 95
Leigh syndrome 95
Mitochondrial diseases 95
Multiple exostoses type 2 95
Retinitis pigmentosa 12; Leber congenital amaurosis 8 95
Glanzmann thrombasthenia 93
Galactosylceramide beta-galactosidase deficiency 91
Hereditary nonpolyposis colon cancer 91
Holt-Oram syndrome 91
Mucopolysaccharidosis type 1 91
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 90
Deafness, autosomal recessive 9 90
Early infantile epileptic encephalopathy 7 90
Juvenile polyposis syndrome 90
Pulmonary arterial hypertension 90
Long QT syndrome 1 89
Ornithine carbamoyltransferase deficiency 89
Pseudoxanthoma elasticum 89
Achromatopsia 3 88
Coffin-Siris syndrome 1 87
Lissencephaly due to LIS1 mutation 87
Primary familial hypertrophic cardiomyopathy 87
Melanoma 86
Cholestanol storage disease 85
Familial focal epilepsy with variable foci 83
Mucopolysaccharidosis type 6 83
Multiple endocrine neoplasia, type 2 83
Retinitis pigmentosa 15 83
Autosomal recessive limb-girdle muscular dystrophy type 2B 82
Complex neurodevelopmental disorder 82
Congenital disorder of glycosylation, type Ia 82
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 81
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 81
Von Willebrand disease, recessive form 81
Hereditary spastic paraplegia 7 79
Primary dilated cardiomyopathy 79
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 78
Menkes kinky-hair syndrome 78
Charcot-Marie-Tooth Neuropathy X 77
Deafness, autosomal recessive 3 77
Developmental and epileptic encephalopathy 94 77
Familial hypertrophic cardiomyopathy 4 77
Smith-Lemli-Opitz syndrome 77
Stargardt disease 77
Blepharophimosis, ptosis, and epicanthus inversus 76
Central core myopathy 76
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 75
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 75
Androgen resistance syndrome 74
Deafness, autosomal recessive 1A 74
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 74
Pitt-Hopkins syndrome 74
Cystic fibrosis; CFTR-related disorders 73
Deficiency of acetyl-CoA acetyltransferase 73
Epilepsy, familial focal, with variable foci 1 73
Supravalvar aortic stenosis 73
Classic homocystinuria 72
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 72
Mucolipidosis type II; Pseudo-Hurler polydystrophy 72
Walker-Warburg congenital muscular dystrophy 72
Charlevoix-Saguenay spastic ataxia 71
Glycogen storage disease, type V 71
Heterotopia 71
Noonan syndrome 1 71
Short-rib polydactyly syndrome type III 71
Deficiency of alpha-mannosidase 70
Niemann-Pick disease, type B; Niemann-Pick disease, type A 70
Congenital adrenal hypoplasia, X-linked 69
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 69
Acute myeloid leukemia 68
Mitochondrial complex II deficiency; Paragangliomas 5 67
Mucopolysaccharidosis, MPS-IV-A 67
Multiple acyl-CoA dehydrogenase deficiency 67
Pendred syndrome 67
Zellweger syndrome 67
Treacher Collins syndrome 1 66
Cobalamin C disease 65
Permanent neonatal diabetes mellitus 65
Cowden syndrome 1 64
Kartagener syndrome 64
Retinitis pigmentosa 25 64
X-linked agammaglobulinemia 64
Leber congenital amaurosis 1 63
Tubulinopathies 63
Amyloidogenic transthyretin amyloidosis 62
Argininosuccinate lyase deficiency 62
Autosomal recessive congenital ichthyosis 1 62
Breast-ovarian cancer, familial 4 62
Familial multiple polyposis syndrome 62
Myasthenic syndrome, congenital, 4a, slow-channel 62
Neoplasm of the large intestine 62
Non-small cell lung cancer 62
PRPH2-Related Disorders 62
Polycystic kidney disease 2 62
Usher syndrome type 1 62
Global developmental delay 61
Long QT syndrome 2 61
Rett syndrome, congenital variant 61
Carnitine palmitoyltransferase II deficiency 60
Chronic granulomatous disease, X-linked 60
Early infantile epileptic encephalopathy 4 60
Endometrial carcinoma 60
Epilepsy, focal, with speech disorder and with or without mental retardation 60
Neurodevelopmental disorder 60
Seizures 60
Wiedemann-Steiner syndrome 60
Alport syndrome, autosomal recessive 59
Carney complex, type 1 59
Hereditary melanoma 59
Mucopolysaccharidosis, MPS-III-A 59
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 59
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 59
X-linked agammaglobulinemia with growth hormone deficiency 59
Adenine phosphoribosyltransferase deficiency 58
Citrullinemia type I 58
Deficiency of ferroxidase 58
Mental retardation, X-linked 1 58
Rhabdoid tumor predisposition syndrome 2 58
Tyrosinase-negative oculocutaneous albinism 58
Anophthalmia/microphthalmia-esophageal atresia syndrome 57
Joubert syndrome 17 57
Leber congenital amaurosis 2; Retinitis pigmentosa 20 57
Nemaline myopathy 3 57
Tyrosinemia type I 57
Usher syndrome, type 2A; Retinitis pigmentosa 39 57
Aniridia 1; Irido-corneo-trabecular dysgenesis 56
CFTR-related disorders 56
Catecholaminergic polymorphic ventricular tachycardia 56
GLUT1 deficiency syndrome 1, autosomal recessive 56
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 56
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 56
Lynch syndrome II 56
3 Methylcrotonyl-CoA carboxylase 1 deficiency 55
Antithrombin III deficiency 55
Congenital muscular hypertrophy-cerebral syndrome 55
Epilepsy, familial focal, with variable foci 3 55
Sandhoff disease 55
Usher syndrome type 2 55
Androgen resistance syndrome; Kennedy disease 54
Chédiak-Higashi syndrome 54
Colorectal cancer 54
Glucose-6-phosphate transport defect 54
Hereditary pancreatitis 54
Legius syndrome 54
Ornithine aminotransferase deficiency 54
beta^0^ Thalassemia 54
Charcot-Marie-Tooth Neuropathy X Type 1 53
Hereditary insensitivity to pain with anhidrosis 53
Methylmalonic acidemia 53
Parathyroid carcinoma 53
Polyglandular autoimmune syndrome, type 1 53
Severe combined immunodeficiency due to ADA deficiency 53
Combined malonic and methylmalonic aciduria 52
Cystinuria 52
Diamond-Blackfan anemia 52
Familial hypertrophic cardiomyopathy 1 52
Mental retardation, autosomal dominant 7 52
Merosin deficient congenital muscular dystrophy 52
Pyruvate dehydrogenase E1-alpha deficiency 52
Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 51
Epileptic encephalopathy 51
Leber congenital amaurosis 13 51
Lysinuric protein intolerance 51
Niemann-Pick disease, type A 51
Osteogenesis imperfecta, recessive perinatal lethal 51
Retinitis pigmentosa 4 51
Vitamin B12-responsive methylmalonic acidemia type cblA 51
Aicardi Goutieres syndrome 5 50
Congenital hyperammonemia, type I 50
Fraser syndrome 1 50
Hearing impairment 50
Hyperinsulinemic hypoglycemia, familial, 1 50
Kleefstra syndrome 1 50
Leber congenital amaurosis 8 50
Neurodegeneration with brain iron accumulation 5 50
Retinitis pigmentosa 39 50
Trichorhinophalangeal dysplasia type I 50
alpha Thalassemia 50
Achromatopsia 49
Acute intermittent porphyria 49
Alpha-1-antitrypsin deficiency 49
Alport syndrome 3, autosomal dominant 49
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 49
Gaucher disease 49
Hereditary angioedema type 1 49
Mental retardation and distinctive facial features with or without cardiac defects 49
Mucolipidosis type IV 49
Cone-rod dystrophy 48
Dystrophinopathies 48
Emery-Dreifuss muscular dystrophy 1, X-linked 48
Familial hypokalemia-hypomagnesemia 48
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 48
Joubert syndrome 5 48
Rubinstein-Taybi syndrome 48
Bainbridge-Ropers syndrome 47
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 47
Carnitine palmitoyltransferase 1A deficiency 47
Familial hyperkalemic periodic paralysis 47
Fanconi anemia, complementation group G 47
Finnish congenital nephrotic syndrome 47
Joubert syndrome 3 47
Leukoencephalopathy with vanishing white matter 47
Leukoencephalopathy, brain calcifications, and cysts 47
Multiple endocrine neoplasia, type 2a 47
X-linked severe combined immunodeficiency 47
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 46
Danon disease 46
Dyskeratosis congenita, autosomal dominant 1 46
Ellis-van Creveld syndrome 46
Fanconi anemia, complementation group C 46
GNE myopathy; Sialuria 46
Hereditary diffuse leukoencephalopathy with spheroids 46
Hereditary fructosuria 46
Leber congenital amaurosis 6 46
Myoclonic dystonia 11 46
Vici syndrome 46
Atypical Rett syndrome 45
Autosomal recessive congenital ichthyosis 5 45
Charcot-Marie-Tooth disease, demyelinating, type 1b 45
Chromosome 2q32-q33 deletion syndrome 45
Dyskeratosis congenita, X-linked 45
Leber hereditary optic neuropathy 45
Multiple congenital anomalies-hypotonia-seizures syndrome 1 45
Vitelliform macular dystrophy type 2 45
Aortic valve disease 2 44
Beta-plus-thalassemia 44
Citrullinemia 44
Hereditary nonpolyposis colorectal cancer type 5 44
Joubert syndrome 6 44
Mental retardation, X-linked 102 44
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 44
Neuronal ceroid lipofuscinosis 7 44
Osteogenesis imperfecta with normal sclerae, dominant form 44
Pyridoxine-dependent epilepsy 44
Amyotrophic lateral sclerosis type 1 43
Dyskeratosis congenita 43
Eichsfeld type congenital muscular dystrophy 43
Epilepsy, hearing loss, and mental retardation syndrome 43
Familial platelet disorder with associated myeloid malignancy 43
Hereditary leiomyomatosis and renal cell cancer 43
Lesch-Nyhan syndrome 43
3-methylcrotonyl CoA carboxylase 2 deficiency 42
Autosomal recessive limb-girdle muscular dystrophy type 2D 42
Early infantile epileptic encephalopathy 13 42
Homozygous familial hypercholesterolemia 42
Mitochondrial complex IV deficiency 42
Rubinstein-Taybi syndrome 2 42
Severe combined immunodeficiency due to DCLRE1C deficiency 42
Thyroid hormone resistance, generalized, autosomal dominant 42
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 41
Alternating hemiplegia of childhood 2 41
Autosomal dominant polycystic kidney disease 41
Autosomal recessive congenital ichthyosis 3 41
Gaucher disease type I 41
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 41
Hurler syndrome 41
Mental retardation, autosomal dominant 31 41
Microcephalic osteodysplastic primordial dwarfism type II 41
Schimke immuno-osseous dysplasia 41
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 41
Arginase deficiency 40
Creatine transporter deficiency 40
Dilated cardiomyopathy 1A 40
Hb SS disease 40
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 40
Oligodontia-colorectal cancer syndrome 40
Perlman syndrome 40
Saldino-Mainzer syndrome 40
Usher syndrome 40
Axenfeld-Rieger syndrome type 3 39
Charcot-Marie-Tooth disease, type 4A 39
Citrin deficiency 39
Deafness, autosomal recessive 2 39
Dent disease type 1 39
Episodic ataxia type 2 39
Erythrocytosis 6, familial 39
Ethylmalonic encephalopathy 39
Joubert syndrome 21 39
Joubert syndrome 9 39
Junctional epidermolysis bullosa, non-Herlitz type 39
Multiple sulfatase deficiency 39
Neuronal ceroid lipofuscinosis 1 39
Parkinson disease 2 39
Pseudo-Hurler polydystrophy 39
Pseudohypoaldosteronism type 2A 39
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 39
Spongy degeneration of central nervous system 39
Alzheimer disease, type 3 38
Bietti crystalline corneoretinal dystrophy 38
Brugada syndrome 1 38
Carcinoma of pancreas 38
Deafness 38
Generalized epilepsy with febrile seizures plus, type 2 38
Maturity-onset diabetes of the young, type 2 38
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 38
Mental retardation, X-linked 98 38
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 38
Nonsyndromic hearing loss and deafness 38
Osteogenesis imperfecta 38
Pigmentary pallidal degeneration 38
Recessive dystrophic epidermolysis bullosa 38
Rhabdomyosarcoma (disease) 38
Speech-language disorder 1 38
Wilms tumor 1 38
Frontotemporal dementia 37
Hemoglobinopathy 37
Hereditary hemochromatosis 37
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 37
Infantile neuroaxonal dystrophy 37
Isovaleryl-CoA dehydrogenase deficiency 37
Kabuki syndrome 2 37
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 37
Netherton syndrome 37
Neurofibromatosis, type 1; Tibial pseudoarthrosis 37
Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 37
Pitt-Hopkins-like syndrome 1 37
Alkaptonuria 36
Alport syndrome 36
Autosomal recessive limb-girdle muscular dystrophy type 2E 36
Brown-Vialetto-Van Laere syndrome 1 36
Dystonia 12 36
Familial hemophagocytic lymphohistiocytosis 3 36
Fanconi anemia, complementation group D2 36
Hereditary spastic paraplegia 3A 36
Hyperlipoproteinemia, type I 36
Junctional epidermolysis bullosa gravis of Herlitz 36
Mitochondrial DNA depletion syndrome 2 36
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 36
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 36
RRM2B-related mitochondrial disease 36
Spastic paraplegia 30, autosomal recessive 36
Arrhythmogenic right ventricular cardiomyopathy, type 10 35
Bardet-Biedl syndrome 1 35
Cerebral cavernous malformations 2 35
Common variable immunodeficiency 8, with autoimmunity 35
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 35
Early infantile epileptic encephalopathy 11 35
Epidermolysis bullosa simplex 35
FGFR2 related craniosynostosis 35
Glycogen storage disease type IXa1 35
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 35
Hereditary sensory and autonomic neuropathy type IIA 35
Holoprosencephaly 3 35
Hyper-IgM syndrome type 1 35
Idiopathic nephrotic syndrome 35
Kindler syndrome 35
Li-Fraumeni syndrome 1 35
Mental retardation, autosomal dominant 1 35
Mucopolysaccharidosis, MPS-III-B 35
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 35
Osteogenesis imperfecta type III 35
Paroxysmal kinesigenic dyskinesia 35
Primary pulmonary hypertension 35
Short-rib thoracic dysplasia 3 with or without polydactyly 35
Spastic paraplegia 31, autosomal dominant 35
Spinocerebellar ataxia, autosomal recessive 8 35
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 35
Autosomal recessive DOPA responsive dystonia 34
Congenital disorder of deglycosylation 34
Congenital myasthenic syndrome 34
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 34
Glycogen storage disease, type VI 34
Inherited Immunodeficiency Diseases 34
Leber congenital amaurosis 2 34
Leukodystrophy, hypomyelinating, 6 34
Lip and oral cavity carcinoma 34
Multiple gastrointestinal atresias 34
Schizophrenia 34
Sphingomyelin/cholesterol lipidosis 34
Succinate-semialdehyde dehydrogenase deficiency 34
Waardenburg syndrome type 1 34
Alpha thalassemia-X-linked intellectual disability syndrome 33
Atrial septal defect 7 with or without atrioventricular conduction defects 33
Cardiac arrhythmia 33
Endplate acetylcholinesterase deficiency 33
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 33
Maturity-onset diabetes of the young, type 3 33
Nail-patella syndrome 33
Neurodevelopmental abnormality 33
Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 33
Progressive myoclonic epilepsy 33
Severe autosomal recessive muscular dystrophy of childhood - North African type 33
Short rib-polydactyly syndrome, Majewski type 33
Adams-Oliver syndrome 5 32
Allan-Herndon-Dudley syndrome 32
BH4-deficient hyperphenylalaninemia A 32
Branchiootorenal Syndrome 1 32
Cockayne syndrome B 32
Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 32
Dystonia 5; GTP cyclohydrolase I deficiency 32
Early infantile epileptic encephalopathy 12 32
Familial hemophagocytic lymphohistiocytosis 2 32
Gastrointestinal stromal tumor 32
Holocarboxylase synthetase deficiency 32
Leukocyte adhesion deficiency 1 32
Lowe syndrome 32
Mental retardation with language impairment and with or without autistic features 32
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 32
Oculofaciocardiodental syndrome 32
Pheochromocytoma 32
Primary hyperoxaluria, type III 32
Skeletal dysplasia 32
Spinocerebellar ataxia type 14 32
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 32
Xeroderma pigmentosum, group C 32
Cardio-facio-cutaneous syndrome 31
Cerebral cavernous malformations 3 31
Choroideremia 31
Coffin-Lowry syndrome 31
Congenital myopathy with fiber type disproportion 31
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 31
Familial temporal lobe epilepsy 1 31
Hearing loss 31
Hereditary factor XI deficiency disease 31
Hyperphosphatasia with mental retardation syndrome 2 31
Hypomyelinating leukodystrophy 7 31
Lamb-shaffer syndrome 31
Leber congenital amaurosis 9 31
Leukodystrophy, hypomyelinating, 11 31
Lymphoproliferative syndrome 2, X-linked 31
Pallister-Hall syndrome 31
Periventricular nodular heterotopia 1 31
Primary hyperoxaluria, type II 31
Pyruvate carboxylase deficiency 31
Rigidity and multifocal seizure syndrome, lethal neonatal 31
Tetralogy of Fallot 31
Tyrosinase-positive oculocutaneous albinism 31
Aicardi-Goutieres syndrome 7 30
Alveolar capillary dysplasia with pulmonary venous misalignment 30
Arrhythmia 30
Biotin-responsive basal ganglia disease 30
Coenzyme Q10 deficiency, primary, 4 30
Deafness, autosomal recessive 12 30
Epidermolysis bullosa junctionalis with pyloric atresia 30
Gastrointestinal stromal tumor; Paragangliomas 3 30
Gorlin syndrome; Medulloblastoma 30
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type 30
Hyperekplexia 1 30
Lissencephaly 2, X-linked 30
Multiple endocrine neoplasia, type 4 30
Myotonia congenita 30
Navajo neurohepatopathy 30
Peroxisome biogenesis disorder 3A 30
Pulmonary venoocclusive disease 2, autosomal recessive 30
Sjögren-Larsson syndrome 30
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 30
3-Methylglutaconic aciduria type 2 29
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 29
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 29
Andersen Tawil syndrome 29
Aplastic anemia 29
Becker muscular dystrophy 29
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 29
Ciliary dyskinesia, primary, 3 29
Cone-rod dystrophy 6; Leber congenital amaurosis 1 29
Congenital generalized lipodystrophy type 2 29
Hereditary nonpolyposis colorectal cancer type 4 29
Hermansky-Pudlak syndrome 1 29
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 29
Infantile-onset ascending hereditary spastic paralysis 29
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 29
Salla disease 29
Turcot syndrome 29
Adenylosuccinate lyase deficiency 28
Arrhythmogenic right ventricular cardiomyopathy 28
Aspartylglucosaminuria 28
Autosomal dominant nonsyndromic deafness 2A 28
Autosomal recessive congenital ichthyosis 6 28
Baraitser-Winter syndrome 1 28
Bardet-Biedl syndrome 10 28
Bare lymphocyte syndrome 2 28
Capillary malformation-arteriovenous malformation 28
Capillary malformation-arteriovenous malformation 1 28
Cone-rod dystrophy 13; Leber congenital amaurosis 6 28
Congenital cataract 28
Crouzon syndrome 28
Facioscapulohumeral muscular dystrophy 2 28
Familial cancer of breast; Ataxia-telangiectasia syndrome 28
GLUT1 deficiency syndrome 1 28
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 28
Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 28
Infantile epilepsy syndrome 28
Junctional epidermolysis bullosa 28
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 28
Koolen-de Vries syndrome 28
Leber congenital amaurosis 4 28
Mental retardation, autosomal dominant 19 28
Mitochondrial trifunctional protein deficiency; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 28
Roberts-SC phocomelia syndrome 28
Waardenburg syndrome type 2A 28
Wiskott-Aldrich syndrome 28
von Willebrand disorder 28
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 27
Chondrodysplasia punctata 2 X-linked dominant 27
Combined oxidative phosphorylation deficiency 14 27
Congenital generalized lipodystrophy type 1 27
Congenital myotonia, autosomal recessive form 27
Familial Mediterranean fever 27
Fanconi anemia, complementation group I 27
GNE myopathy 27
Helsmoortel-Van der Aa Syndrome 27
Hereditary spastic paraplegia 27
Homocystinuria 27
Mental retardation, autosomal dominant 18 27
Mental retardation, autosomal dominant 6 27
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 27
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 27
Mitochondrial trifunctional protein deficiency 27
Mucopolysaccharidosis type 7 27
Myoclonic-atonic epilepsy 27
Nephrogenic diabetes insipidus, X-linked 27
Nephropathic cystinosis 27
Paragangliomas 4 27
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 27
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay