ClinVar Miner

Variants reported as likely pathogenic

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 134377
Total variants unanimously reported as likely pathogenic: 81369

Breakdown by submitter #

Total submitters: 1545
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Submitter Variants
Invitae 32373
GeneDx 12827
Baylor Genetics 12613
Counsyl 7985
Ambry Genetics 7118
Myriad Genetics, Inc. 6252
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5313
Revvity Omics, Revvity 4187
CeGaT Center for Human Genetics Tuebingen 3645
PreventionGenetics, part of Exact Sciences 3523
Fulgent Genetics, Fulgent Genetics 2893
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2214
3billion 1765
Institute of Human Genetics, University of Leipzig Medical Center 1726
Genome-Nilou Lab 1656
Blueprint Genetics 1568
Mendelics 1356
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1286
Genetic Services Laboratory, University of Chicago 1147
University of Washington Center for Mendelian Genomics, University of Washington 1128
NIHR Bioresource Rare Diseases, University of Cambridge 1123
Database of Curated Mutations (DoCM) 1114
Natera, Inc. 1069
Mayo Clinic Laboratories, Mayo Clinic 1023
Color Diagnostics, LLC DBA Color Health 1007
Quest Diagnostics Nichols Institute San Juan Capistrano 997
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 976
Neuberg Centre For Genomic Medicine, NCGM 903
MGZ Medical Genetics Center 902
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 857
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 836
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 827
Eurofins Ntd Llc (ga) 802
LDLR-LOVD, British Heart Foundation 787
Centre for Mendelian Genomics, University Medical Centre Ljubljana 777
Athena Diagnostics Inc 744
Illumina Laboratory Services, Illumina 708
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 671
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 632
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 620
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 589
SIB Swiss Institute of Bioinformatics 586
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 561
Yale Center for Mendelian Genomics, Yale University 547
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 542
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 530
ISCA site 1 524
AiLife Diagnostics, AiLife Diagnostics 485
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 479
Genetics and Molecular Pathology, SA Pathology 443
Genome Diagnostics Laboratory, The Hospital for Sick Children 411
Center for Human Genetics, Inc, Center for Human Genetics, Inc 393
All of Us Research Program, National Institutes of Health 393
Center for Medical Genetics Ghent, University of Ghent 391
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 384
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 382
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 365
Genomics England Pilot Project, Genomics England 365
Kariminejad - Najmabadi Pathology & Genetics Center 364
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 363
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 340
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 338
Centogene AG - the Rare Disease Company 331
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 317
Sema4, Sema4 312
Dept Of Ophthalmology, Nagoya University 311
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 300
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 299
Genomic Research Center, Shahid Beheshti University of Medical Sciences 293
New York Genome Center 293
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 285
Clinical Genetics and Genomics, Karolinska University Hospital 273
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 266
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 260
ClinGen PAH Variant Curation Expert Panel 247
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 241
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 238
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 233
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 231
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 230
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 224
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 217
Ocular Genomics Institute, Massachusetts Eye and Ear 214
Diagnostic Laboratory, Strasbourg University Hospital 211
Génétique des Maladies du Développement, Hospices Civils de Lyon 211
Undiagnosed Diseases Network, NIH 209
Department of Pathology and Laboratory Medicine, Sinai Health System 209
ClinGen Monogenic Diabetes Variant Curation Expert Panel 209
Johns Hopkins Genomics, Johns Hopkins University 208
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 205
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 202
Service de Génétique Moléculaire, Hôpital Robert Debré 198
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 197
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 197
Institute of Human Genetics, Cologne University 195
Gharavi Laboratory, Columbia University 192
Stanford Center for Inherited Cardiovascular Disease, Stanford University 190
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 188
Hadassah Hebrew University Medical Center 182
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 181
Lifecell International Pvt. Ltd 179
Sharon lab, Hadassah-Hebrew University Medical Center 176
Molecular Genetics, Royal Melbourne Hospital 176
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 175
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 172
Institute of Human Genetics, University of Goettingen 170
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 167
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 163
Institute of Medical Molecular Genetics, University of Zurich 161
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 161
DASA 160
Centre for Population Genomics, CPG 155
Genome Diagnostics Laboratory, University Medical Center Utrecht 153
Department of Psychiatry, Nagoya University 152
UCLA Clinical Genomics Center, UCLA 152
Medizinische Genetik Mainz, Limbach Genetics GmbH 152
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 151
Dunham Lab, University of Washington 148
Institute of Human Genetics, University of Wuerzburg 146
Laboratory of Genetics in Ophthalmology, Institut Imagine 146
deCODE genetics, Amgen 145
Molecular Biology Laboratory, Fundació Puigvert 145
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 144
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 143
Institute of Human Genetics, University Hospital Muenster 143
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 137
Centre of Medical Genetics, University of Antwerp 135
Molecular Genetics laboratory, Necker Hospital 133
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 133
Clinical Genetics, Academic Medical Center 130
Robarts Research Institute, Western University 130
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 127
NeuroMeGen, Hospital Clinico Santiago de Compostela 125
Leiden Open Variation Database 125
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 122
GenomeConnect - Simons Searchlight 122
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 121
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 121
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 118
PXE International 114
Center for Molecular Medicine, Children’s Hospital of Fudan University 114
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 109
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 109
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 108
Laboratoire de Génétique Moléculaire, CHU Bordeaux 108
Knight Diagnostic Laboratories, Oregon Health and Sciences University 106
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 104
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 104
Human Genetics Bochum, Ruhr University Bochum 104
Clinical Biochemistry Laboratory, Health Services Laboratory 103
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 103
DBGen Ocular Genomics 103
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 100
King Laboratory, University of Washington 99
Center of Genomic medicine, Geneva, University Hospital of Geneva 99
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 98
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 96
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 96
Genome Diagnostics Laboratory, Amsterdam University Medical Center 94
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 93
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 92
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 91
Genomic Medicine Lab, University of California San Francisco 91
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 90
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 89
Laboratory of Medical Genetics, University of Torino 87
Department of Laboratory Medicine, Yonsei University College of Medicine 85
Medical Genetics, University of Parma 84
Sydney Genome Diagnostics, Children's Hospital Westmead 84
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 83
Wendy Chung Laboratory, Columbia University Medical Center 83
CHU Sainte-Justine Research Center, University of Montreal 82
Laan Lab, Human Genetics Research Group, University of Tartu 81
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 80
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 80
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 80
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 79
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 78
Fundacion Hipercolesterolemia Familiar 77
Suma Genomics 77
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 76
Center for Personalized Medicine, Children's Hospital Los Angeles 75
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 75
Center for Human Genetics, University of Leuven 74
WangQJ Lab, Chinese People's Liberation Army General Hospital 74
Division of Human Genetics, Children's Hospital of Philadelphia 73
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 73
University of Washington Department of Laboratory Medicine, University of Washington 73
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 71
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 69
Molecular Genetics Lab, CHRU Brest 69
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 68
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 67
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 66
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 66
Department of Ophthalmology and Visual Sciences Kyoto University 65
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 65
Molecular Genetics Laboratory, Institute for Ophthalmic Research 64
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 64
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 63
Elsea Laboratory, Baylor College of Medicine 62
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 62
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 61
Wessex Regional Genetics Laboratory, Salisbury District Hospital 61
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 59
Eurofins-Biomnis 59
Department of Zoology Govt. MVM College 58
ClinGen Myeloid Malignancy Variant Curation Expert Panel 58
Molecular Genetics Laboratory, London Health Sciences Centre 57
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 57
BRCAlab, Lund University 57
Department of Vascular Biology, Beijing Anzhen Hospital 56
Precision Medicine Center, Zhengzhou University 56
Section for Clinical Neurogenetics, University of Tübingen 55
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 55
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 55
Provincial Medical Genetics Program of British Columbia, University of British Columbia 55
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 54
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 53
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 53
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 53
JKU Lab, Dept of Paediatrics, Johannes Kepler University 53
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 52
Duke University Health System Sequencing Clinic, Duke University Health System 52
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 52
Department of Medical Genetics, Oslo University Hospital 51
CSER _CC_NCGL, University of Washington 51
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 51
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 50
Arcensus 50
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 49
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 49
GeneKor MSA 49
Daryl Scott Lab, Baylor College of Medicine 49
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 49
ISCA Site 6 48
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 48
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 48
Autoinflammatory diseases unit, CHU de Montpellier 48
ClinGen Hearing Loss Variant Curation Expert Panel 47
Institute of Reproductive Genetics, University of Münster 47
Sharing Clinical Reports Project (SCRP) 46
Clinical Genomics Laboratory, Washington University in St. Louis 46
Laboratory of Molecular Genetics, CHU RENNES 46
Reproductive Endocrine Unit, Massachusetts General Hospital 46
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 46
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 46
Department of Human Genetics, Hannover Medical School 46
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 45
Inserm U 954, Faculté de Médecine de Nancy 44
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 44
Breda Genetics srl 44
Department of Pediatrics, Gifu University 44
Institute of Human Genetics, University Hospital of Duesseldorf 43
Clingen PTEN Variant Curation Expert Panel, Clingen 43
Genetics Department, Polish Mother's Memorial Hospital Research Institute 43
Molecular Pathology Research Laboratory, SA Pathology 43
Research Unit of Cardiovascular and Metabolic Disease, Inserm 43
Genomics And Bioinformatics Analysis Resource, Columbia University 43
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 43
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 42
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 42
Institute of Human Genetics, Heidelberg University 42
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 42
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 41
Rare Disease Group, Clinical Genetics, Karolinska Institutet 41
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 40
Alexion Pharmaceuticals, Inc 39
GeneID Lab - Advanced Molecular Diagnostics 39
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 39
Cirak Lab, University Hospital Cologne 38
Centre for Genomic and Experimental Medicine, University of Edinburgh 37
Iberoamerican FH Network 37
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 37
Clinical Genomics Program, Stanford Medicine 37
Genome Sciences Centre, British Columbia Cancer Agency 36
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 36
Cavalleri Lab, Royal College of Surgeons in Ireland 35
Molecular Genetics, Madras Diabetes Research Foundation 35
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 35
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 34
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 34
Neurogenetics Research Program, University of Adelaide 34
Klaassen Lab, Charite University Medicine Berlin 34
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 34
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 34
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 34
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 34
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 33
Center for Genetic Medicine Research, Children's National Medical Center 33
Kids Neuroscience Centre, Sydney Children's Hospitals Network 33
KCCC/NGS Laboratory, Kuwait Cancer Control Center 33
Center for Statistical Genetics, Columbia University 31
Genetics Department, University Hospital of Toulouse 31
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 31
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 31
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 31
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 30
Richard Lifton Laboratory, Yale University School of Medicine 30
Pediatric Department, Peking University First Hospital 30
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 30
CZECANCA consortium 30
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 30
Kids Research, The Children's Hospital at Westmead 29
Reproductive Health Research and Development, BGI Genomics 29
NxGen MDx 29
Genomics Facility, Ludwig-Maximilians-Universität München 29
Center of Excellence for Medical Genomics, Chulalongkorn University 29
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 29
Eye Genetics Research Group, Children's Medical Research Institute 28
Medical Molecular Genetics Department, National Research Center 28
Inherited Neuropathy Consortium 28
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 28
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 28
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 27
Neurogenetics Laboratory - MEYER, AOU Meyer 27
Cancer Genomics Group, Japanese Foundation For Cancer Research 27
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 27
Birmingham Platelet Group; University of Birmingham 26
Laboratory of Metabolic Disorders, Peking University First Hospital 26
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 26
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 26
Institute for Human Genetics, University Hospital Essen 26
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 26
Pediatric Department, Xiangya Hospital, Central South University 26
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 26
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 26
SingHealth Duke-NUS Institute of Precision Medicine 25
Uitto Lab, Thomas Jefferson University 25
Istanbul Faculty of Medicine, Istanbul University 25
Houlden Lab, UCL Institute of Neurology 25
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 25
MVZ Dr. Eberhard & Partner Dortmund 24
Harry Perkins Institute Of Medical Research, University Of Western Australia 24
Clinical Genetics Laboratory, Region Ostergotland 24
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 24
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 24
Geisinger Clinic, Geisinger Health System 24
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 24
Academic Department of Medical Genetics, University of Cambridge 23
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 23
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 23
Clinical Genetics, Erasmus University Medical Center 23
HSP Biomedical Diagnostics Department, Hospital San Pedro 23
ClinGen CDH1 Variant Curation Expert Panel 23
Molecular Diagnosis Center for Deafness 23
Chan Lab, Boston Children's Hospital 22
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 22
ClinGen Cardiomyopathy Variant Curation Expert Panel 22
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 22
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 22
ClinGen RASopathy Variant Curation Expert Panel 22
Liping Wei Laboratory, Peking University 22
Genome Medicine, Institute for Basic Research in Developmental Disabilities 22
Human Genetics Section, Sidra Medicine 22
Genomic Center, National Cancer Institute 22
KTest Genetics, KTest 22
Pediatric Genetics Clinic, Sheba Medical Center 22
ClinGen Glaucoma Variant Curation Expert Panel 22
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 22
Claritas Genomics 21
ClinVar Staff, National Center for Biotechnology Information (NCBI) 21
Shaikh Laboratory, University of Colorado 21
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 21
Reproductive Development, Murdoch Childrens Research Institute 21
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 21
Medical Affairs, Dicerna Pharmaceuticals 21
Shen Lab, Columbia University Medical Center 21
Laboratory of Molecular Genetics and Genomics, Rennes University Hospital 21
Molecular Endocrinology Laboratory, Christian Medical College 21
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 21
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 21
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 21
DECIPHERD-UDD, Universidad del Desarrollo 21
Molecular Diagnostics Laboratory, Seoul National University Hospital 20
Laboratory of Human Genetics, Universidade de São Paulo 20
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 20
Genetic Diseases Diagnostic Center, Koc University Hospital 20
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 20
Laboratory of Hematology, Radboud University Medical Center 20
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 20
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 20
Endocrinology Clinic, Seth G.S. Medical College 19
Familial Cancer Clinic, Veneto Institute of Oncology 19
Dr. Guy Rouleau's laboratory, McGill University 19
Cytogenetics- Mohapatra Lab, Banaras Hindu University 19
Gene Discovery Core-Manton Center, Boston Children's Hospital 19
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 19
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 19
Molecular Medicine, University of Leeds 19
Center for Reproductive Medicine, Peking University Third Hospital 19
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 19
Bone Marrow Failure laboratory, Queen Mary University London 18
Bruce Lefroy Centre, Murdoch Childrens Research Institute 18
National Newborn Screening Laboratory, Hospital Nacional de Niños 18
TIDEX, University of British Columbia 18
New Leaf Center 18
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 18
Genetics Institute, Tel Aviv Sourasky Medical Center 18
Molecular Medicine, University of Pavia 18
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge 18
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 18
Human Developmental Genetics Laboratory, Medical College of Wisconsin 17
RettBASE 17
Medical Research Institute, Tokyo Medical and Dental University 17
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 17
Wangler Lab, Baylor College of Medicine 17
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 17
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer 17
Klinisk genetik och genomik Research, Gothenburg University 17
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon 17
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 17
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 17
Institute of Immunology and Genetics Kaiserslautern 17
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 17
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 16
GeneReviews 16
GenePathDx, GenePath diagnostics 16
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 16
Tehran Medical Genetics Laboratory 16
Human Genetics Group at Institute of Prion Diseases London, University College London 16
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 16
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 16
Laboratoire Génétique Moléculaire, CHRU TOURS 16
Guerreiro-Bras Laboratory, Van Andel Institute 16
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 16
Dept of Medical Biology, Uskudar University 16
KardioGenetik, Herz- und Diabeteszentrum NRW 16
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen 16
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 15
Genetics and Personalized Medicine Clinic, Tartu University Hospital 15
Human Genetics Unit, University Of Colombo 15
Laboratory of Functional Genomics, Research Centre for Medical Genetics 15
Laboratory Cellgenetics, GMDL Cellgenetics 15
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 15
Tumer Group, Copenhagen University Hospital, Rigshospitalet 15
Hehr Laboratory, Center for Human Genetics Regensburg 14
Institute of Human Genetics, University of Ulm 14
INSERM U1051, Institut des Neurosciences de Montpellier 14
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 14
ISCA site 4 14
Deafness Gene Diagnosis, Xijing Hospital 14
Dobyns Lab, Seattle Children's Research Institute 14
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 14
Translational Genomics Laboratory, University of Maryland School of Medicine 14
Center of Medical Genetics, Central South University 14
Raymond Lab, University of Cambridge 14
Rare Disease Group, University of Exeter 14
Ding PR Lab, Sun Yat-sen University Cancer Center 14
Refractive Surgery Department, Bright Eye Hospital 14
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 14
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires 14
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen 14
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 13
Bristol Genetics Laboratory, North Bristol NHS Trust 13
Institute of Human Genetics, Medical University Innsbruck 13
UW Hindbrain Malformation Research Program, University of Washington 13
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 13
Section on Medical Neuroendocrinolgy, National Institutes of Health 13
Institute for Genomic Medicine, Nationwide Children's Hospital 13
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 13
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 13
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 13
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 13
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 13
Constitutional Genetics Lab, Leon Berard Cancer Center 13
Medical Genetics Laboratory, CHRU Nancy 13
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 13
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 13
Pediatrics, Sichuan Provincial Hospital For Women And Children 13
Institute of Anatomy and Cell Biology, Medical Faculty, University Of Bonn 13
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 12
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 12
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 12
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 12
Biochemistry Laboratory of CDMU, Chengde Medical University 12
Godley laboratory, The University of Chicago 12
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 12
Laboratory of Molecular Genetics, Children's Memorial Health Institute 12
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 12
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 12
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 12
Pangenia Genomics, Pangenia Inc. 12
Human Genetics Laboratory, Amsterdam University Medical Center 12
Payam Genetics Center, General Welfare Department of North Khorasan Province 12
ZhangYB Lab, Beihang University 12
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 12
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 12
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 12
Pathway Genomics 11
Institute for Integrative and Experimental Genomics, University of Luebeck 11
Pediatric Genomics Discovery Program, Yale University 11
Hematology laboratory, Robert Debré Hospital 11
Regeneron Genetics Center, Regeneron 11
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 11
ClinGen TP53 Variant Curation Expert Panel, ClinGen 11
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 11
Institute of Vision Research, Yonsei University College of Medicine 11
Pediatrics, All India Institute of Medical Sciences, New Delhi 11
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine 11
Gemeinschaftspraxis fuer Humangenetik Dresden 11
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 11
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 11
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 11
Department of Neurology, Children’s Hospital of Chongqing Medical University 11
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 11
Laboratory of Genetics, Children's Clinical University Hospital Latvia 11
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 10
Peking Union Medical College Hospital 10
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) 10
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 10
Department of Medical Genetics, National Institute of Health 10
MVZ Praenatalmedizin und Genetik Nuernberg 10
Genetics, Medical University of Vienna 10
Embryology Laboratory, Victor Chang Cardiac Research Institute 10
Dan Cohn Lab, University Of California Los Angeles 10
Caldovic Lab, Children's National Health System 10
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 10
Genesis Genoma Lab, Genesis Genoma Lab 10
Genetics and Genomics Program, Sidra Medicine 10
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 10
Fondazione Telethon, Telethon Institute of Genetics and Medicine 10
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 10
Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease, Shanghai Jiao Tong University School of Medicine. 10
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 10
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center 10
Laboratory of genome editing, Research Centre for Medical Genetics 10
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 10
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 10
Narges Medical Genetic and Prenatal Diagnosis Lab 10
Exeter Molecular Genetics Laboratory 9
Sydney Children's Hospital, SCHN 9
Centre for Human Genetics 9
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 9
Albrecht-Kossel-Institute, Medical University Rostock 9
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 9
Shanghai First Maternity and Infant Hospital, Tongji University 9
Molecular Endocrinology Laboratory, Poznan University of Medical Sciences 9
Institute of Medical Genetics, University of Zurich 9
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 9
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 9
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 9
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 9
O&I group, Department of Genetics, University Medical Center of Groningen 9
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 9
Roden Lab, Vanderbilt University Medical Center 9
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital 9
Human Developmental Genetics, Institut Pasteur 9
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 9
Genetic Diagnostics Department, Viafet Genomics Laboratory 9
Clinical Genomics Labs, University Health Network 9
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 9
Giacomini Lab, University of California, San Francisco 9
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 9
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 9
Jain Foundation 9
Gene Friend Way, National Innovation Center 9
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 8
Willoughby Group, Queen's University Belfast 8
Department of Genetics, Robert DEBRE University Hospital 8
Wellcome Centre for Mitochondrial Research, Newcastle University 8
Centre for Translational Omics - GOSgene, University College London 8
Center for Individualized Medicine, Mayo Clinic 8
Medizinische Klinik 1/ Institut für Bioinformatik, Universitätsklinikum Großhadern, München/ Helmholtz Zentrum München 8
Paul Sabatier University EA-4555, Paul Sabatier University 8
Dr. Peter K. Rogan Lab, Western University 8
Laboratory of Prof. Karen Avraham, Tel Aviv University 8
Heart Center, Academic Medical Center Amsterdam 8
Santos-Cortez Lab, University of Colorado School of Medicine 8
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 8
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 8
Molecular Biology Laboratory, University of Basrah 8
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 8
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 8
Women's and Children's Health, University of Otago 8
Medical Genetics Laboratory, Tarbiat Modares University 8
Faculté Pluridciplinaire Nador, Université Mohamed Premier 8
UM ALS/MND Lab, University Of Malta 8
Phenosystems SA 8
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 8
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg 8
Center for Precision Medicine, Meizhou People's Hospital 8
Rare Disease Center, Seoul National University Hospital 8
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 7
Elahi Laboratory, University of Tehran 7
Northcott Neuroscience Laboratory, ANZAC Research Institute 7
Cytogenetics Laboratory, University of Washington 7
Clinical Genetics Laboratory, Christian Medical College, Vellore 7
National Institute of Mental Health and Neurosciences 7
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 7
Hereditary Hearing Loss Research Unit, University of Madras 7
Muenke lab, National Institutes of Health 7
Department of Genetics, Fundacion Jimenez Diaz University Hospital 7
Phosphorus, Inc. 7
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 7
Hardcastle Lab, UCL Institute of Ophthalmology 7
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 7
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 7
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 7
Dash Lab, University Health Network 7
Dept. of Evolution and Genomic Sciences, University of Manchester 7
Paediatric Orthopaedics Research Lab, Christian Medical College 7
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 7
Xu Lab, Pediatric Cardiology, Xinhua Hospital, affiliated to Shanghai Jiao Tong University School of Medicine 7
Medical Genetics, Spectrum Health 7
Robert's Program, Boston Children's Hospital 7
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 7
Breast Center, Key Laboratory of Carcinogenesis and Translational Research 7
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 7
Molecular Oncology Research Center, Barretos Cancer Hospital 7
Pediatrics, MediClubGeorgia 7
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 7
Wainwright Lab, University Of Queensland 7
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 7
Pediatric Neurology, Shengjing Hospital of China Medical University 7
Genetic Eye Disease Investigation Unit, University of Auckland 7
Département de Neurologie, Hospices Civils de Lyon 7
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 7
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 7
Medical Genetics Department, Charles Nicolle Hospital Tunis 7
Department of Pediatrics, National Cheng-Kung University Hospital 7
Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University 7
Gleeson Lab, University of California San Diego - Department of Neuroscience 6
Molecular Genetics Laboratory; Baylor College of Medicine 6
ISCA site 14 6
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 6
Section on Endocrinology and Genetics, National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 6
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 6
National Institute on Deafness and Communication Disorders, National Institutes of Health 6
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer 6
Center of Medical Genetics and Primary Health Care 6
The Genetics Institute, Rambam Health Care Campus 6
Ege University Pediatric Genetics, Ege University 6
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 6
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 6
The Raphael Recanati Genetics Institute, Rabin Medical Center 6
Polak associated Lab, IMAGINE Institute 6
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology 6
INGEBI, INGEBI / CONICET 6
University of Iowa Renal Genetics Clinic, University of Iowa 6
Department of Haematogenetics, ICMR National Institute of Immunohaematology 6
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 6
Finnell Lab, Baylor College of Medicine 6
Department of Biochemistry, Faculty of Medicine, University of Khartoum 6
Institute of Medical Sciences, Banaras Hindu University 6
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 6
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre 6
Moosajee Lab, UCL Institute of Ophthalmology 6
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 6
Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 6
Bioinformatics Unit, Institut Pasteur de Montevideo 6
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 6
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 6
Research Laboratories, P. D. Hinduja Hospital & MRC 6
Wang Lab, The Lab for Reproductive Genetics, Fudan University 6
Cytogenetique et Genetique Moleculaire, CHU Besancon 6
Gene2Care/ Palmer Lab, University of New South Wales 6
Nadeem Sheikh Lab, University of the Punjab 6
Department of Pediatric and Adolescent Medicine, University of Erlangen 6
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 6
Ayesha Lab, University of the Punjab 6
Changsha Kingmed Center For Clinical Laboratory, KingMed Diagnostics 6
Centre for Molecular Medicine & Biobanking, University of Malta 6
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 5
SNPedia 5
George Lab Vanderbilt University 5
Department of Prosthodontics, Peking University School and Hospital of Stomatology 5
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 5
Care4Rare-SOLVE, CHEO 5
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 5
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 5
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 5
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 5
Research Group Niklas Dahl, Uppsala University 5
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier 5
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 5
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 5
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 5
Snyder Lab, Genetics Department, Stanford University 5
Department of Immunology, University Hospital Southampton NHSFT 5
Institute of Reproductive and Stem Cell Engineering, Central South University 5
True Health Diagnostics 5
GeniaGeo, Laboratorio Genia 5
Pediatric Metabolic Diseases, Hacettepe University 5
Genetic Medico-Diagnostic Laboratory Genica 5
Cancer Molecular Diagnostics Core, Tianjin Medical University Cancer Institute and Hospital 5
Cytogenetics and Genomics Laboratory, Medical University of South Carolina 5
Garshasbi Lab, Tarbiat Modares University 5
Human Genetics Laboratory, Faculty of Medicine of Tunis 5
The Division of Genetics and Genomic Medicine, Washington University School of Medicine 5
Department of Medical Genetics, University of Pecs 5
Institute of Bioinformatics 5
Codex Genetics Limited 5
Human Genetics Laboratory, State University of Rio de Janeiro 5
Centre de recherche St Antoine, Sorbonne Université, INSERM, Sorbonne University 5
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 5
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 5
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 5
Manchester Centre for Genomic Medicine, The University of Manchester 5
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 5
Swedish Neurofibromatosis Center, Swedish Medical Center 5
Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia 5
Division of Medical Genetics, University of Washington 5
Clinical Genetics Laboratory, Skane University Hospital Lund 5
CeMIA 5
Wanghongyan lab, Fudan University 5
Department of Ophthalmology, California Pacific Medical Center 5
Pars Genome Lab 5
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine 5
Paris Brain Institute, Inserm - ICM 5
Institute of Medical Genetics, Medical University of Vienna 5
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 5
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 5
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 5
Ulrich Schweizer laboratory, Universitaetsklinikum Bonn 5
Thalassemia Center, San Luigi University Hospital 5
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 5
Department of Urology, Hunan Children's Hospital 5
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 5
Department Of Biochemistry, Hamamatsu University School Of Medicine 5
Akizu Lab, Children's Hospital Of Philadelphia 5
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 5
Wasik Lab, Fox Chase Cancer Center 5
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 5
Institute of Biochemistry And Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan 5
Department of Genetics, HCU Lozano Blesa 5
Laboratorio de Genetica Humana; Universidad de los Andes 4
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 4
Clinical Genetics Research Group, University of Calgary 4
Science and Research Branch, Islamic Azad University, Islamic Azad University 4
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 4
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 4
Miami Human Genetics, University Of Miami Miller School Of Medicine 4
Colorectal Cancer Research Lab, Singapore General Hospital 4
Molecular and Medical Genetics Group, King's College London 4
Genetic Diagnostic Laboratory, University of Szeged 4
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 4
Neurogenetics Laboratory, GH Pitie Salpetriere APHP 4
Bioinformatics dept., Datar Cancer Genetics Limited, India 4
Manipal Hospitals, Manipal Hospital 4
Department of Ophthalmology, Flinders University 4
Department of Medical Genetics, University Hospital of North Norway 4
Department of Medical Genetics, Gazi University 4
Centre for Genomic Sciences, University of Hong Kong 4
Institute of Experimental Endocrinology, Slovak Academy of Sciences 4
Molecular Medicine Center, Medical University of Sofia 4
Computational Biology Unit, University of Bari 4
Epi4K Consortium 4
Variantyx, Inc. 4
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 4
Taipei Veterans General Hospital, Neurological Institute 4
Dept of Genetics, Assistance Publique-Hôpitaux de Paris (APHP) - R DEBRE University Hospital 4
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 4
Genetics Laboratory, Department of Biology, Semnan University 4
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 4
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 4
Laboratory of Molecular Genetics, Montpellier University Hospital 4
Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 4
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 4
Neurology Laboratory, National Cheng Kung University Hospital 4
Cardiology unit, Meyer University Hospital 4
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 4
Dongguan Key Laboratory of Genetics and Infectious Diseases, Dongguan Institute of Pediatrics 4
Molecular Genetics, Centre for Human Genetics 4
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 4
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland 4
Shieh Lab, University of California, San Francisco 4
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 4
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 4
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 4
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 4
CMT Laboratory, Bogazici University 4
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 4
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz 4
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 4
Medical Genetics Research Center, Mashhad University of Medical Sciences 4
Molecular Lab, Department of Haematology, Christian Medical College 4
Molecular Genetics of Human Eye Development, Oxford Brookes University 4
Department of Medical and Surgical Sciences, University of Bologna 4
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 4
Medical Genetics, Taibah University College of Applied Medical Sciences 4
Department of Dermatology, The Second Affiliated Hospital of Nanchang University 4
St. Anna Children's Cancer Research Institute (CCRI) 4
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh 4
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 4
Mustafa Tekin Lab, University Of Miami, Miller School Of Medicine 4
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 4
University of British Columbia, BC Children's Hospital 4
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 4
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 4
Vasylyeva lab, Texas Tech University Health Sciences Center 4
Department of Clinical Genetics, Medical University of Lodz 4
Molecular Genetics Laboratory, Edith Wolfson Medical Center 3
Health in Code S.L. 3
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 3
ISCA site 15 3
Simons Lab, The University of Queensland 3
James Howe Lab, University of Iowa Hospital and Clinics 3
University of British Columbia 3
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 3
Dr. Faghihi's Medical Genetic Center 3
Department of Internal Medicine, University of Texas Health Science Center at Houston 3
Department Of Medical Genetics, Faculty Of Medicine, Ege University 3
MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA 3
Research Centre for Medical Genetics, Research Centre for Medical Genetics 3
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere 3
Aziz Sancar Institute of Experimental Medicine, Istanbul University 3
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 3
Biology Pathology Center, Lille University Hospital 3
Donald Williams Parsons Laboratory, Baylor College of Medicine 3
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 3
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 3
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 3
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 3
Human Development and Health, University of Southampton 3
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 3
KK Women’s and Children’s Hospital 3
Institute of Cellular and Molecular Medicine, Copenhagen University 3
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 3
Department of Human Genetics, University Hospital Magdeburg 3
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia 3
Cipher Gene Genetics Laboratory, Cipher Gene, Inc 3
Clinical Bioinformatic Lab, Royan Institute 3
Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants 3
Kahle Lab, Yale University 3
3DMed Clinical Laboratory Inc 3
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 3
Department of Immunology and Histocompatibility, University of Thessaly 3
Core Molecular Diagnostic Lab, McGill University Health Centre 3
Molecular Pathology and Genetics, King Abdulaziz Medical City, Ministry of National Guard - Health Affairs 3
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 3
College of Medicine Research Centre, King Saud Univeristy 3
Department of Medical Genomics, Royal Prince Alfred Hospital 3
Department of Molecular Bıology and Genetics, Istanbul Technical University 3
NYU Undiagnosed Diseases Program, NYU School of Medicine 3
DeNA Laboratory, DeNA Laboratory 3
Heon Lab, The Hospital for Sick Children 3
MAGI's Lab - Research, MAGI Group 3
MNM Diagnostics 3
Biochemical Genetics Laboratory, National Taiwan University 3
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 3
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 3
Pediatric Endocrinology Clinic, Ege University School of Medicine 3
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 3
Aleixo Muise Laboratory, Hospital For Sick Children 3
UF de génétique clinique, APHP Hôpital Armand Trousseau 3
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh 3
Genomics, Clalit Research Institute, Clalit Health Care 3
Genetics Program, Instituto Nacional de Cancer 3
Genetics and Personalized Medicine, Danish Epilepsy Center 3
Pediatrics, West China Second University Hospital, Sichuan University 3
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 3
School of Computer Science, University of Waterloo 3
Laboratory of Molecular Diagnosis of Genetic Disease, Università degli Studi di Napoli Federico II 3
Department of Pediatrics, The University of Tokyo 3
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 3
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School 3
ClinGen Brain Malformations Variant Curation Expert Panel 3
Department of Genetics, CHU d'Angers 3
Department of Neurology, Second Xiangya Hospital of Central South University 3
“Giorgio Prodi” Cancer Research Center, University of Bologna 3
Kazan State Medical University, Kazan State Medical University 3
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 3
The Centre for Applied Genomics, The Hospital for Sick Children 3
Molecular Medicine Laboratory, University of Brescia 3
Wen Jiang Lab, Comprehensive Epilepsy Center, Xijing Hospital 3
Department of Surgery, The First Affiliated Hospital of Zhengzhou University 3
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 3
Angen Gene Medicine Technology 3
Department of Neurology, Xijing Hospital, Fourth Military Medical University 3
QSNICH Molecular Lab, Queen Sirikit National Institute of Child Health 3
Alder lab, University of Pittsburgh 3
Unidad de Medicina Traslacional, Hospital de Ninos Ricardo Gutierrez 3
Prenatal Diagnosis Center, Inner Mongolia Medical University 3
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 3
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine 3
Next Generation Genetic Polyclinic 3
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 3
Research and Counseling Department, Research Centre for Medical Genetics 3
Department of Research, Sir Ganga Ram Hospital 3
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 3
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 3
Breast Care Center, Daerim St. Mary`s Hospital 3
Laboratorio De Medicina Genomica, Universidad Icesi 3
Faculty of Pharmacy, University of Ljubljana 3
Breakthrough Genomics, Breakthrough Genomics 3
Department of Pediatrics, ShengJing Hospital of China Medical University 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 3
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 3
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 3
Tetreault Lab, University of Montreal Hospital Research Centre (CRCHUM) 3
EVOGEN 3
Nephrogenetics Laboratory, Hacettepe University 3
Ricardo Maselli Laboratory, University of California Davis 3
Center of Human Genetics, Hôpital Erasme 3
Engle Laboratory, Boston Children's Hospital 2
Neurogenetics Department, Cyprus Institute of Neurology and Genetics 2
Michigan Medical Genetics Laboratories, University of Michigan 2
BloodGenetics 2
Precision Medicine Laboratory, Medical College of Wisconsin 2
Institute for Genetics of Heart Diseases, University Hospital Muenster 2
ITMI 2
Molecular Genetics and Enzymology, National Research Centre 2
Genologica Medica 2
Department of Breast and Endocrine Surgery, Kumamoto University 2
TilsonLab, Columbia University 2
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 2
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 2
U955 Equipe 11, INSERM 2
Department of Hematology, University of Health Sciences 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
Department of Medical Biology, Academic Medical Center 2
Center for Molecular Medicine, Karolinska Institute 2
Kruer lab, Phoenix Children's Hospital 2
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus 2
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 2
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 2
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University 2
Laboratory of Human Molecular Genetics, Department of Medical Research, Taipei Veterans General Hospital 2
Rui Chen Lab, Baylor College of Medicine 2
Kangwon National University Hospital 2
National Research Council, Institute of Genetics and Biomedical Research 2
Department of Endocrinology, The Affiliated hospital of QingDao University 2
Clinics for Rare Diseases Referral (Hong Kong), The University of Hong Kong 2
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 2
Thoracic and Gastrointestinal Oncology Branch/CCR/NCI, NIH 2
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 2
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 2
Biotechnology Research Center, Pasteur Institute of Iran 2
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 2
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas 2
UMR-S1161, Institut national de la santé et de la recherche médicale 2
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 2
Servicio Extremeño de Salud, Hospital de Mérida 2
Department of Pathology and Molecular Medicine, Queen's University 2
Molecular Oncology Laboratory, Hospital Clínico San Carlos 2
Laboratoire de Genetique Biologique, CHU de Poitiers 2
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital 2
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 2
Tolun Lab, Human Genetics Laboratory, Bogazici University 2
Antonellis Laboratory at Michigan, University of Michigan 2
North East Yorkshire Genomic Laboratory Hub 2
Mitochondrial Research Group, Murdoch Children's Research Institute 2
Center for Medical Genetics, Keio University School of Medicine 2
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 2
Hemoglobin and Genome Lab, University of Campinas 2
Laboratoire de cytogenetique, Hopital Necker-Enfants Malades 2
Medical Institute of Bioregulation, Kyushu university 2
Clinical laboratory, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and Technology 2
Costain lab, The Hospital for Sick Children 2
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 2
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 2
Genetics Division, Universidade Federal de Sao Paulo 2
Degerman lab, Umeå University 2
Department of Endocrinology, Sir Run Run Shaw Hospital 2
Medical Genetics Clinic, Mersin Women and Children Hospital 2
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 2
Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health 2
Department of Pathology and Genetics, University of Gothenburg 2
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 2
Precision Medicine Oncology, Rutgers Cancer Institute of New Jersey 2
Institute for Biomedicine, Eurac Research 2
Fan Lab, Zhengzhou University 2
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 2
Cancer Diagnostics Division, Gene Solutions 2
Genotek, Genotek Ltd. 2
Neuromuscular Group, Huashan Hospital, Fudan University 2
Genomics For Life 2
IRCCS Fondazione Stella Maris, University of Pisa 2
Medical Genetics Unit, University of L'Aquila 2
Stewart Lab, University of Birmingham 2
GOSgene, University College London Great Ormond Street Institute of Child Health 2
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre 2
Knight Cancer Institute, Oregon Health and Science University 2
Department of Biotechnology and Microbiology, Karnatak University Dharwad 2
Institute of Clinical Molecular Biology, Kiel University 2
Genatak 2
Department of Pediatrics, Third Xiangya Hospital of Central South University 2
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems 2
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital 2
Department of Medical Biology, Faculty of Medicine, Hacettepe University 2
Coyote Medical Laboratory (Beijing), Coyote 2
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital 2
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 2
Flatmark laboratory, Institute for Cancer Research, Oslo University Hospital 2
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 2
Mani Lab, Yale Cardiovascular Research Center, Yale University 2
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 2
Division of Nephrology, Beth Israel Deaconess Medical Center 2
Clinical Research Group, BGI genomics 2
Clinical Genetics Laboratory, Emek Medical Center 2
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 2
Molecular Pathology Laboratory, Cleveland Clinic 2
Human Genetics Department, Tarbiat Modares University 2
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 2
Matlow's Ophthalmo-genetic Laboratory, Assaf Harofe Medical Center 2
VIB - Center for Molecular Neurology, University of Antwerp 2
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 2
Institute of Medical Genetics, ASUI Udine 2
Stankiewicz Research Laboratory, Baylor College of Medicine 2
Clinical Genetics Branch, National Institutes of Health 2
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 2
University Health Network, Princess Margaret Cancer Centre 2
Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano 2
Linda Baker Laboratory, UT Southwestern Medical Center 2
Translational Omics Lab at Great Ormond Street Institute of Child Health, University College London 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2
Biological Sciences, International Islamic University, Islamabad 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 2
Medical Genetics, CHU Nice 2
Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University 2
Division of Biology and Genetics, University of Brescia 2
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 2
Department of Obstetrics, Zhejiang Provincial People's Hospital, Zhejiang Provincial People's Hospital 2
Gastroenterology Department, Qilu Hospital of Shandong University 2
Medical Genetics, Christian Medical College 2
National Institute of Neuroscience, National Center of Neurology and Psychiatry 2
Genomic Medicine, Universita Cattolica del Sacro Cuore 2
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 2
Laboratory for Bone and Joint Diseases, RIKEN 2
Medical Genetics, Haseki Training and Research Hospital 2
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 2
Department of Heart Center, Qingdao Women and Children's Hospital 2
Precision Medical Center, Wuhan Children's Hospital 2
Department of Reproductive Endocrinology, Zhejiang Provincial People's Hospital 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 2
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 2
Nutriplexity 2
UCL Queen Square Institute of Neurology, University College London 2
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity 2
PPA2 laboratory, University of Otago 2
Department of Toxicogenomics, Maastricht University 2
Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow 2
Institute of Dermatology, Anhui Medical University 2
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen 2
Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari 2
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 2
Orthodontics Department, Peking University School and Hospital of Stomatology 2
Beijing Obstetrics and Gynecology Hospital, Capital Medical University 2
Genetics Department, University Hospital of Angers 2
Research Unit of Clinical Neuroscience, Medical Research Center Oulu, University of Oulu 2
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 2
School of Medicine, Dokuz Eylül University 2
Department of Neurology, Hunan Children's Hospital 2
Department of Neurology, Beijing Children's Hospital, Capital Medical University 2
Research Institute, Imperial College London Diabetes Centre 2
Healthincode, Healthincode group 2
Wuhan Primbio Medical Laboratory 2
Institute for Molecular Bioscience, The University of Queensland 2
Serviço de Genética Médica, Centro Hospitalar e Universitário de São João 2
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg 2
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 2
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission 2
Department of Medical Genetics, Tarbiat Modares University 2
National Health Commission Key Laboratory of Birth Defects Research, Maternal and Child Health Hospital of Hunan 2
Molecular Genetics, University Hospital Bordeaux 2
Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine 2
Molecular Genetics, Sadra Medical Genetics Laboratory 2
Department of Legal Medicine, University of Toyama 2
Department of Pediatrics, Hamamatsu University School of Medicine 2
Clinical Genetics Laboratory, Sir Run Run Shaw hospital 2
Department of Paediatrics, National University Hospital 2
Institute of Neurology, Charite University of Medicine 2
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco 2
Genetics Laboratory, University of Sistan and Baluchestan 2
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 2
UO Genetica Medica, University of Bologna 2
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 2
Gansu Provincial Maternity and Child Care Hospital 2
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 2
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 2
Genotypic Technology Pvt Ltd 2
Wang lab, Dept of pediatrics, Fujian Medical University Union Hospital 2
Newman Lab, University of Manchester 2
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 2
Division of Medical Genetics, Kanagawa Children s Medical Center 2
McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College 2
Human Genetics, University of Luebeck 2
Undiagnosed Rare Disease Clinic, Indiana University School of Medicine 2
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine 2
Department of Cariology and Endodontology, Peking University School and Hospital of Stomatology 2
Genetics Department, Hospital De La Santa Creu I Sant Pau 2
Department of Laboratory Medicine, Seoul National University Bundang Hospital 2
Department Of Gynecology And Obstetrics, Second Affiliated Hospital of Chongqing Medical University 2
Bhoj Lab, University Of Pennsylvania 2
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences 2
Shaine Morris Lab, Baylor College of Medicine 2
Department of Rehabilitation, Children's Hospital of Nanjing Medical University 2
Department Of Pediatric Dentistry, Peking University School And Hospital Of Stomatology 2
Fetal Health Research Center, Hope Generation Foundation 2
Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana 2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 2
Department of Pediatrics, Division of Pediatric Genetics, Necmettin Erbakan University Faculty of Medicine 2
Valdecilla Biomedical Research Institute, Instituto de Salud Carlos III 2
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 2
Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital 2
Department of Pediatric Neurology, Seoul National University Children's Hospital 2
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 2
OMIM 1
Institute for Human Genetics, University Medical Center Freiburg 1
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center, Location AMC 1
Molecular Diagnostics Laboratory, Hospital Sainte-Justine 1
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 1
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1
Quantitative Genomic Medicine Laboratories, SL 1
Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences 1
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital 1
Guangxi Key laboratory of Metabolic Diseases Research; Guilin 181st Hospital 1
UniProtKB/Swiss-Prot 1
Human Genetics Research Centre, St George's University of London 1
Rademakers Lab, Mayo Clinic 1
Evolutionary and Medical Genetics Laboratory, Center for Cellular and Molecular Biology 1
Department of Clinical Science, University of Bergen 1
Laboratoire de Biologie Moléculaire, Centre Hospitalo-Universitaire 1
ISCA site 3 1
ISCA site 8 1
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1
Akiko Shimamura Lab, Fred Hutchinson Cancer Research Center 1
Department of Paediatric Surgery, The Canberra Hospital 1
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Sun Yet-sen University 1
E. Rossignol Lab, CHU Ste-Justine, Universite de Montreal 1
Karolinska institutet 1
Molecular Genetic Center, Genetaq 1
Abrahams Lab, Albert Einstein College of Medicine 1
Molecular Genetics and RNA Biology, Humanitas University 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 1
Center for Personalized Medicine, Roswell Park Cancer Institute 1
INSERM UMR 1170, INSERM 1
Center for Molecular Medicine, University Medical Center Utrecht 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 1
Human Molecular Genetics Lab, Quaid-I-Azam University 1
Laboratory of Genomics, National Research Institute of Animal Production 1
Gahl Group, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health 1
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini 1
Dept of Medicine and Surgery, University of Milano-Bicocca 1
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences 1
Veritas Genetics, Veritas Genetics 1
University of Mississippi Medical Center, University of Mississippi 1
McDonnell Genome Institute, Washington University in St. Louis 1
Nowon Eulji Medical Center, Nowon Eulji Medical Center 1
Laboratory of Applied Genomics, Kongju National University 1
Prenatal Medicine Munich, Prenatal Medicine Munich 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 1
HerediLab, Inc. 1
Bicknell laboratory, University of Otago 1
Sidra Medicine 1
QMC Molecular Diagnostics, Queen's Medical Center 1
Human Genetics Disease in Children – Taif University, Taif University 1
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 1
Neurogenetics group, VIB, Antwerp, Belgium 1
Choi Lab, Seoul National University 1
Dhiti Omics Technologies Pvt. Ltd. 1
Centre for Molecular Medicine and Therapeutics, University of British Columbia 1
Human Genetics and Genome Research Institute, National Research Centre 1
Hereditary Research Laboratory, Bethlehem University 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 1
Laboratory of Molecular Genetics, National Institutes of Health 1
Myllykangas group, University of Helsinki 1
Department of Ophthalmology, Flinders Medical Centre 1
Geschwind lab, University of California Los Angeles 1
Department of Medical Biochemistry and Genetics, University of Turku 1
Universitätsklinikum Salzburg, Universitätskinderklinik 1
Department of Molecular and Medical Genetics, Osaka Medical Center for Cancer and Cardiovascular Diseases 1
Medical Genetics, University of Pavia 1
Center for Genomic Medicine, Kyoto University Graduate School of Medicine 1
Medical Genetics, Meyer Children Hospital 1
Korbonits Lab, Queen Mary University of London 1
Biochimie Génétique et moléculaire, CHUGA 1
Neurology Department, Peking University First Hospital 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1
Clinical Genomics Laboratory, IWK Health Center 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 1
Hunter Genetics General Clinical Genetics Service, Hunter Genetics 1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 1
Division of Rheumatology, Allergy and Immunology, UCSD 1
Labor Lademannbogen MVZ GmbH 1
Genetic Laboratory, Instituto Nacional de Cancer 1
Key Laboratory of Endocrinology, Peking Union Medical College Hospital 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1
Department of Animal Sciences, Quaid-i-Azam University 1
Akbari laboratory, Tarbiat Modares University 1
Endocrine oncology group, Uppsala University 1
Applied Translational Genetics Group, University of Auckland 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 1
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 1
Caglayan Lab, Istanbul Bilim University 1
Medgenome Labs Pvt Ltd 1
Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista 1
Molecular Medicine Research Center, University of Cyprus 1
Department of Medical Sciences, Uppsala University 1
Department of Obstetrics and Gynecology, Helsinki University Hospital 1
Division of Genomics, Kyushu university 1
Barrett Group, Wellcome Trust Sanger Institute 1
School of Basic Medicine, Fourth Military Medical University 1
Genetics of Mitochondrial Diseases, Imagine Institute 1
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 1
Human Molecular Genetics Laboratory, Federal University of Parana 1
Murat Gunel Laboratory, Yale University 1
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 1
Cormier-Daire Lab, IMAGINE 1
Dr. Liu's Molecular Genetics Laboratory, University of Miami Miller School of Medicine 1
Dr Meenakshi Bhat Group, Centre for Human Genetics 1
Molecular Genetics Laboratory, State University of Campinas 1
Department of Hematology - Research Laboratory 1, Postgraduate Institute of Medical Education and Research 1
Emory University School of Medicine, Department of Human Genetics, Emory University 1
Istenhegyi Gendiagnosztika Kft 1
Center of Vascular Surgery, The Second Affiliated Hospital of Nanchang University 1
Research Laboratory, University Department of Zoology, Vinoba Bhave University 1
Medical Genetics Center, Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 1
Ambulatório de Genética Médica, Hospital Escola da Universidade Federal de Pelotas 1
Children's Hospital of Soochow University, Soochow University 1
University of Uludag Hospital, Genetic Diseases Diagnostic Center, University of Uludag 1
Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston 1
Pfaffle Lab, University Hospital for Children and Adolescents, University of Leipzig 1
Department of Medical Bioinformatics, Sinopath Diagnosis 1
Molecular Genetics Laboratory, Faculty of Medicine, Prince of Songkla University, Thailand 1
Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Cardiovascular Institute 1
Clinical Genetics Laboratory, Harran University 1
Center for Precision Medicine, Vanderbilt University Medical Center 1
Gill Bejerano Lab, Stanford University 1
The Danek Gertner Institute of Human Genetics, Sheba Medical Center 1
Magee Womens Research Institute, University of Pittsburgh Medical Center 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1
Biomedical Innovation Departament, CIEMAT 1
Carola Vinuesa Lab, John Curtin School of Medical Research 1
Bondeson Group, Uppsala University 1
CIViC knowledgebase, Washington University School of Medicine 1
Department of Pathology, Brigham and Women's Hospital 1
Neurogenetics Lab, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College 1
Brotman Baty Institute, University of Washington 1
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 1
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm 1
Genetics and Genomics, Alberta Children's Hospital 1
Division of Genetic Medicine, Lausanne University Hospital 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 1
Cancer Genomics Laboratory, Texas Children's Hospital 1
Department of Internal Medicine, The University of Texas McGovern Medical School, The University of Texas Health Science Center at Houston 1
Laboratorio de Biología Molecular, FLENI 1
Pathophysiology of Heart Rhythm Disorders, Université Lyon 1 Claude Bernard 1
Renal Department, Renmin Hospital of Wuhan University 1
Institute of Neurogenomics, Technical University of Munich 1
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 1
Division of Paediatric Endocrinology and Diabetes, University of Luebeck 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 1
Cole/Wambach Lab, Washington University in St. Louis 1
Department of Urology, The First Affiliated Hospital of Henan University of Traditional Chinese Medicine 1
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 1
Myelin Disorders Clinic, Children's Medical Center 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1
Dr Goodarzi Genetics and Genomics Lab 1
Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics 1
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 1
Center for Medical Genetics, GenVams Trust 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 1
University of Malaya Medical Center, University of Malaya 1
Department of Neurology, Hospital Garcia de Orta 1
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim 1
Genetics and Metabolism Laboratory, Children Hospital Zhejiang University School of Medicine 1
Michigan Center for Translational Pathology, University of Michigan 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 1
Medical Genetic Team, CHRU Montpellier 1
Centro de Estudios en Salud, Universidad de Narino 1
Children's Medical Research Institute, University of Sydney 1
Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London 1
Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1
Children's Hospital of Wisconsin Genetics Clinic, Medical College of Wisconsin 1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 1
Clinical Genetics, University of Leipzig 1
Molecular Genetics Center, Sichuan Provincial People's Hospital 1
Genetic Outpatient Clinic, Children's Memorial Health Institute 1
Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program, University of New South Wales 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 1
Medical Genetics Department, Assistance Publique Hopitaux de Marseille 1
Neuromuscular and Neuropediatric Research Group, Germans Trias i Pujol Research Institute 1
Cancer Genetics Service, National Cancer Centre Singapore 1
Medical Genome Center, National Center of Neurology and Psychiatry 1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 1
ATS GeneTech Pvt Ltd 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski 1
Department of Psychiatry and Medical Psychology, Medical University Pleven 1
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 1
Laboratorio de Genetica Molecular e Citogenetica, Universidade Federal de Goias 1
James R Lupski Laboratory, Baylor College Of Medicine 1
Sección de Genética Clínica, Hospital Clinico Universidad de Chile 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 1
Beijing Mygenostics Co., Ltd. 1
Department of Chemical Pathology, Prince of Wales Hospital 1
Institute of Clinical Chemistry and Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein, Campus Kiel 1
Cardiogenetic Laboratory, Instituto Murciano de Investigación Biosanitaria 1
Bioinformatics Research Center, Pavlov First St. Petersburg State Medical University 1
LACE Laboratorios 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
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 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
Department of Translational Medicine, University of Naples Federico II 1
Genetic Diagnosis Center, Faculty of Medicine, Trakya University 1
Biochemistry Laboratory, Bechir Hamza Children's Hospital 1
Institut national de la santé et de la recherche médicale, INSERM 1
Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital 1
Fundacion Favaloro, PRICAI 1
Prenatal Diagnosis Center, Guizhou Provincial People's Hospital 1
Laboratory of Genetic Engineering, National Medical Research Center for Hematology 1
Division of Human Genetics, University Cheikh Anta Diop 1
Laboratory of Medical Genetics, Tor Vergata University 1
van Oers lab, UT Southwestern Medical Center 1
Pediatric Oncology, Johns Hopkins University 1
Medical Molecular Genetics, National Research Centre 1
Centre for translational and clinical research, University Hospital Centre Zagreb 1
Epilepsy and Neurogenetic Laboratory, Kaohsiung Chang Gung Memorial Hospital 1
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University 1
Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital 1
Center for Genetics and Inherited Diseases, Taibah University 1
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 1
Thrombosis and Haemostasis Unit, Fondazione IRCCS "Casa Sollievo della Sofferenza" 1
Human Genetic Laboratory, University of Liege 1
Laboratory of Human Genetics, UPO, University of Eastern Piedmont 1
School of Bio-Medicine, Mongolian National University of Medical Sciences 1
Department of Pediatrics, University Hospital Center Zagreb 1
Fundacion Diagnosis 1
Institute of Genomics, University of Tartu 1
Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences 1
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER 1
Beijing Children’s hospital, National Center for Children’s Health 1
Institute for Pathophysiology, Universitaetsmedizin JGU Mainz 1
Cytogenetics and Cellular Biology Laboratory, Rennes University Hospital 1
MAGIC Laboratory, Stellenbosch University 1
Unit of Medical Genetics, Department of Laboratory Medicine, San Giovanni Calibita Fatebenefratelli Hospital 1
Genetics Unit, Juan Ramón Jiménez Hospital 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 1
Biochemistry Metabolomics and Proteomics Laboratory, Necker Enfants Malades Hospital 1
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine 1
ConGen 1
Health Biotechnology Lab, Department of Biotechnology, Abdul Wali Khan University Mardan 1
Endocrine Laboratory of Southeast University, Southeast University 1
Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi Medical College 1
Arnesen Lab, University of Bergen 1
Biotechnology Lab, Dept of Biomolecular Sciences, University of Urbino 1
Center of Genetics and Reproductive Medicine "Genetico" 1
Amsterdam Leukodystrophy Center, Amsterdam UMC 1
Department of Pathophysiology and Transplantation, University of Milan 1
Investigational Cancer Therapeutics, MD Anderson Cancer Center 1
International Fanconi Anemia Registry, The Rockefeller University 1
Genoks Genetic Disorders Diagnostic Laboratory 1
NIDO Danmark, Gødstrup Hospital 1
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University 1
Hongqi Zhang Laboratory, Xiangya Hospital, Central South University 1
Cytogenetics & Genomics Research Unit, University of Calcutta 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 1
Medical Genetics Laboratory, Gulhane Training and Research Hospital 1
Shen lab, Soochow University 1
RBC Disorders, Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 1
Ladle Lab, Johns Hopkins University 1
Research Laboratory of Clinical Virology, Ruijin Hospital 1
Center of Medical Genomics-TUH, Thammasat University 1
AUSL-IRCCS di Reggio Emilia, Arcispedale Santa Maria Nuova 1
Department of Medical Genetics, CHU Clermont-Ferrand 1
ICM, Inserm 1
Department of Endocrinology, Chinese PLA General Hospital 1
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 1
Congenital and Hereditary Diseases, Charles Nicolle Hospital 1
Swisher Lab, University of Washington 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1
Human Neuroscience, La Sapienza University of Rome 1
Hereditary Cancer Clinic, Medical College of Georgia 1
Centre for Human Genetics, University of Kinshasa 1
Bonnemann Lab, National Institutes of Health 1
Genetics Department, Hospital Ramon y Cajal-IRYCIS 1
Clinical Genomics Laboratory, Vanderbilt University Medical Center 1
Laboratory of Reproductive Genetics, Women’s Hospital, School of Medicine, Zhejiang University 1
Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People’s Hospital 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 1
Clinical Genetics Service, Universitary Hospital 12 de Octubre 1
Heart Failure and Familial Heart Diseases Unit, Hospital Universitario Virgen de la Victoria 1
Francois Mercier Lab, McGill University 1
R&I Genetics srl 1
Oasi Research Institute-IRCCS 1
Neonatal Research Center, Shiraz University of Medical Science 1
University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre 1
Anu Suomalainen-Wartiovaara lab, University of Helsinki 1
Genetica Medica Policlinico Modena, Policlinico di Modena 1
Research Institute, Aichi Cancer Center 1
Molecular Medicine, NSW Health Pathology North, Newcastle 1
Janey Wiggs Laboratory, Massachusetts Eye and Ear, Harvard Medical School 1
Swanson Laboratory, Northwestern University Feinberg School of Medicine 1
Department of Pediatrics, Taipei Veterans General Hospital 1
Pediatrics Department, Azienda Ospedaliero-Universitaria Policlinico San Marco 1
Molecular and Cytogenetics Laboratory, Americain University of Beirut Medical Center 1
Children's Services, Oxford University Hospitals NHS Foundation Trust 1
Pediatric Intensive Care Unit, Hebei Children’s Hospital 1
Joe DiMaggio Children's Hospital, Memorial Healthcare System 1
Pediatric Oncology and Hematology Unit, National and Kapodistrian University of Athens 1
Kuwait Medical Genetics Centre, Kuwait Ministry of Health 1
Dept of laboratory medicine, Chungbuk National University Hospital 1
Department Neonatology, Affiliated Hospital of Zunyi Medical University 1
University Medical Center Utrecht, University Utrecht 1
Neurology Department, Shenzhen Children's Hospital 1
Cologne Center for Genomics, Faculty of Medicine, University of Cologne 1
Department of Cardiology, Liyang City Hospital of Traditional Chinese Medicine 1
Endocrinology, CHU de Quebec-Université Laval 1
Department of Pediatrics, The Second Xiangya Hospital, Central South University 1
Department of Laboratory Medicine and Genetics, Samsung Medical Center 1
General Neurology and Ataxia Unit, Universidade Federal de Sao Paulo - Escola Paulista de Medicina 1
Centre de recherche CHU de Quebec-Universite Laval, Laval University 1
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 1
Matsson lab, Uppsala university 1
NIMGenetics, NIMGenetics 1
Fatma Al Jasmi Lab, United Arab Emirates University 1
Brain and Mitochondrial Research, Murdoch Children's Research Insitute 1
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 1
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital 1
Department of Pediatrics, The Affiliated Hospital of Qingdao University 1
Dr. Arun Seshachalam & Co, Dr. GVN Cancer Institute 1
Taiwan Primary Aldosteronism Investigation 1
Corniche Hospital, Abu Dhabi, Abu Dhabi Health Services Co - SEHA 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1
Department of Clinical Genetics, Nationwide Children's Hospital 1
Lin-Yu Lu Lab, Zhejiang University 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 1
Center of Laboratory Medicine, Peking Union Medical College Hospital 1
Center for Reproductive Medicine, Changhai Hospital, Naval Medical University 1
Sarem Hospital Central Laboratory, Iran University of Medical Science (IUMS) 1
James Dowling Lab, The Hospital For Sick Children 1
Molecular Diagnostics Laboratory, University of Rochester Medical Center 1
Chongqing Key Laboratory of Neurology, First Affiliated Hospital of Chongqing Medical University 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 1
Clinical Genetics Department, Nottingham University Hospitals NHS Trust 1
Dept of Pediatrics, Guizhou Children's Hospital, Affiliated Hospital of Zunyi Medical University 1
Biswas-Fiss Lab at the Ammon Pinizzotto Biopharmaceutical Innovation Center, University of Delaware 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 1
Ben Taub Pediatrics - Newborn, Baylor College of Medicine 1
Human Genetics, Hazara University Mansehra 1
Insititute of Human Genetics, University Giessen, Germany 1
Genetica Molecular, Fundacion para el Progreso de la Medicina 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1
Neonatology Unit, University Hospital of Modena 1
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1
Bioengineering and Technology, Gauhati University 1
Clinical Genetics Laboratory, CHRU Nancy 1
Kunming Medical University 1
Laboratory Division, Turku University Hospital 1
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences 1
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute 1
Genomenon, Inc 1
Cancer Genomics Lab, PINUM Cancer Hospital 1
H. Huang Group, Central South University 1
Otolaryngology Branch - NIDCD, NIH 1
Mashhad Undiagnosed Diseases Center, Mashhad University Of Medical Sciences 1
Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University 1
Discovery DNA Inc 1
Translational Genomics Group, Broad institute of MIT and Harvard 1
Molecular Diagnosis for Inborn Errors of Immunity, Hospital de Pediatria Garrahan 1
Medical Genetics Clinic, University of Alberta 1
Molecular Genetics, Sichuan Provincial Maternity and Child Health Care Hospital 1
Genetic Diagnosis Center, The First Hospital of Jilin University 1
Genomics Laboratory, Royal University Hospital 1
Growth and Development Research Center, Tehran University of Medical Sciences 1
Department of Medical Genetics, Diyarbakir Gazi Yasargil Training and Research Hospital 1
Movement Disorders Program, Boston Children's Hospital 1
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University 1
Cardiology, Hunan Children’s Hospital 1
Center for Comprehensive Genetic Services, Baqiyatallah University of Medical Sciences 1
Department of Obstetrics and Gynaecology, The Second Hospital of Hebei Medical University 1
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 1
Genetic Service Laboratory, Queen Elizabeth Hospital 1
Pediatric Neurology, The Children’s Hospital, Zhejiang University School of Medicine 1
Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran 1
Medical Genetics Department, Ankara Oncology Training and Research Hospital, University of Health Sciences 1
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb 1
Neonatology Department, Xi’an Children’s Hospital 1
Translational Research Department, Sidra Medicine 1
Interventional Cardiology Department, Nhan Dan Gia Dinh Hospital 1
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiaotong University 1
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran, Royan Institute 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1
Medical Oncology, Institut Jules Bordet 1
Clinical Genetics Laboratory, Sahlgrenska University Hospital 1
Qatar Biomedical Research Institute, Hamad Bin Khalifa University 1
Centre for Endocrinology, Queen Mary University of London 1
Pediatric Metabolism Laboratory, Institute of Child Health, Hacettepe University 1
State Key Laboratory for Diagnosis & Treatment of Infectious Diseases, First Affiliated Hospital, School Of Medicine, Zhejiang University 1
Federation de Genetique et Medecine Genomique, Hopital Necker 1
Research Center of Stomatology, College of Stomatology, Xi'an Jiaotong University 1
Medical Retina And Imaging, Irccs Ospedale San Raffaele 1
School of Stomatology, Jinan University 1
Neonatal Intensive Care Unit, Fujian Provincial Hospital 1
FullGenomics, FullGenomics SL 1
School of Pediatrics, Henan University of Chinese Medicine, Henan University Of Chinese Medicine 1
Pio d'adamo Lab, University Of Trieste 1
Molecular Diagnostics, First Genomix Laboratory 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 1
UAEU Genomics Laboratory, United Arab Emirates University 1
Department Of Dermatology And Venereology, Fujian Medical University Union Hospital 1
Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Eye Hospital 1
Acualanaylab, Acibadem University 1
Wales Gene Park, Division Of Cancer and Genetics, Cardiff University 1
Watson Genetic Lab 1
Dept of Medical Genetics, NHO Tokyo Medical Center 1
Uffe Birk Jensen Lab, Aarhus University Hospital 1
Shriners Children's Clinical Research, Shriners Children's Northern California 1
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús 1
Clinical Genetics Laboratory, Exon Genomics 1
Tammimies Lab, Karolinska Institutet 1
Umrani?ye Training and Research Hospital 1
Molecular Reproductive And Human Genetics Laboratory, University Of Mysore 1
Institute of Neurogenetics, University of Luebeck 1
Molecular Physiology Group, Radboudumc 1
Children's Rare Disease Laboratory, Dongguan Children's Hospital 1
Department Of Pathology, Hubei Cancer Hospital 1
Ledgerwood and Morison Labs, University of Otago 1
Department Of Ophthalmology, Xi'an People's Hospital 1
Fetal and Placental Pathology Unit, Hospital Habib Bougatfa 1
Department of Gastroenterological Surgery, Kumamoto University 1
Medical Genetics Laboratory, Etlik City Hospital 1
Department of Neurosciences, Rehabilitation, Ophthalmology and Maternal-Fetal Medicine (DINOGMI), University Of Genoa 1
Farhud Genetics Clinic, Farhud Genetics Lab 1
National Institute for Research in Reproductive and Child Health, Indian Council of Medical Research 1
Department of Clinical Chemistry, Walailak University 1
SC Genetica Medica, ASST Santi Paolo e Carlo 1
Pediatric Research Institute, Henan Children’s Hospital 1
Dept. of Pathology and Cell Biology, NewYork-Presbyterian Hospital/Columbia University Irving Medical Center 1
Clinical Genetics Laboratory, Karadeniz Technical University 1
Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne 1
Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences 1
Williams Lab, Columbia University Irving Medical Center 1
Monogenic Research Group, University Of Exeter Medical School 1
Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine 1
Genetic Laboratory, Progenet 1
Department of Neurology, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China 1
First Hospital of Lanzhou University, Lanzhou University 1
Laboratorio Biología Molecular, Sanatorio Americano 1
Laboratory of Pediatric Research, Suzhou Wujiang District Children's Hospital 1

Breakdown by condition #

Total conditions: 9494
Download table as spreadsheet
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Condition Variants
not provided 35892
Hereditary cancer-predisposing syndrome 4093
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2060
Familial cancer of breast 1694
Cardiovascular phenotype 1584
Inborn genetic diseases 1488
Retinal dystrophy 1336
See cases 1270
Hypercholesterolemia, familial, 1 1104
Marfan syndrome 832
Hereditary breast ovarian cancer syndrome 789
Neurofibromatosis, type 1 737
Retinitis pigmentosa 647
Nemaline myopathy 2 624
Ataxia-telangiectasia syndrome 606
Cystic fibrosis 590
Familial thoracic aortic aneurysm and aortic dissection 549
Early infantile epileptic encephalopathy with suppression bursts 548
Primary dilated cardiomyopathy 539
Hypertrophic cardiomyopathy 529
Primary ciliary dyskinesia 529
Phenylketonuria 507
Wilson disease 499
Retinitis pigmentosa 39 480
Cardiomyopathy 470
Autosomal recessive polycystic kidney disease 447
Cohen syndrome 437
Intellectual disability 435
Glycogen storage disease, type II 425
Fanconi anemia 414
Lung adenocarcinoma 414
Polycystic kidney disease 4 413
Very long chain acyl-CoA dehydrogenase deficiency 403
Charlevoix-Saguenay spastic ataxia 399
Lynch syndrome 382
not specified 382
Hereditary nonpolyposis colorectal neoplasms 380
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 377
Non-ketotic hyperglycinemia 372
Gastric adenocarcinoma 360
Neoplasm of the large intestine 352
Autosomal recessive Alport syndrome 350
Squamous cell carcinoma of the head and neck 337
Neurodevelopmental disorder 333
Breast neoplasm 326
Maple syrup urine disease 321
Propionic acidemia 319
Li-Fraumeni syndrome 1 317
Lynch syndrome 1 315
Rare genetic deafness 310
X-linked Alport syndrome 310
Niemann-Pick disease, type C1 308
Usher syndrome type 2A 308
Glycogen storage disease type III 304
Duchenne muscular dystrophy 299
Familial hypercholesterolemia 291
Malignant neoplasm of body of uterus 287
Arthrogryposis multiplex congenita 6 285
Fanconi anemia complementation group A 284
Finnish congenital nephrotic syndrome 281
Retinitis pigmentosa 25 281
Alstrom syndrome 280
Malignant melanoma of skin 279
Squamous cell lung carcinoma 277
Transitional cell carcinoma of the bladder 276
Breast-ovarian cancer, familial, susceptibility to, 1 272
Hepatocellular carcinoma 264
Long QT syndrome 248
Ovarian cancer 248
Junctional epidermolysis bullosa gravis of Herlitz 243
Primary ciliary dyskinesia 3 243
Pancreatic adenocarcinoma 242
Spastic paraplegia 240
Bardet-Biedl syndrome 238
Ehlers-Danlos syndrome, type 4 238
Neoplasm of brain 236
Breast-ovarian cancer, familial, susceptibility to, 2 235
Carcinoma of esophagus 227
RYR1-Related Disorders 227
Familial adenomatous polyposis 1 226
Ovarian serous cystadenocarcinoma 225
Severe early-childhood-onset retinal dystrophy 225
Multiple acyl-CoA dehydrogenase deficiency 224
Glioblastoma 223
Monogenic diabetes 223
Endometrial carcinoma 220
Jeune thoracic dystrophy 216
Tuberous sclerosis 2 213
Medium-chain acyl-coenzyme A dehydrogenase deficiency 212
Bloom syndrome 210
Charcot-Marie-Tooth disease type 2 210
Familial aplasia of the vermis; Meckel-Gruber syndrome 210
Maturity onset diabetes mellitus in young 209
Colorectal cancer, hereditary nonpolyposis, type 2 208
Galactosylceramide beta-galactosidase deficiency 208
Polycystic kidney disease, adult type 208
Mucopolysaccharidosis, MPS-IV-A 206
Rett syndrome 206
Neoplasm of ovary 205
Tip-toe gait 201
Adrenoleukodystrophy 199
Acute myeloid leukemia 196
Kabuki syndrome 1 196
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 194
Deficiency of alpha-mannosidase 193
Glutaric aciduria, type 1 193
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 193
Ellis-van Creveld syndrome 192
Metachromatic leukodystrophy 190
Multiple myeloma 189
Merosin deficient congenital muscular dystrophy 187
Prostate adenocarcinoma 186
Renal carnitine transport defect 183
Congenital hyperammonemia, type I 182
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 180
Autosomal recessive limb-girdle muscular dystrophy type 2A 179
Usher syndrome 178
Bardet-Biedl syndrome 14 175
Hyperinsulinemic hypoglycemia, familial, 1 174
Uterine carcinosarcoma 174
Familial adenomatous polyposis 2 173
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 171
Smith-Lemli-Opitz syndrome 171
Microcephaly, normal intelligence and immunodeficiency 170
PMM2-congenital disorder of glycosylation 169
Lynch syndrome 4 166
Fabry disease 164
Hearing loss, autosomal recessive 164
Usher syndrome type 2A; Retinitis pigmentosa 39 164
Werner syndrome 163
Dilated cardiomyopathy 1G 162
Progressive sclerosing poliodystrophy 159
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 158
Glycogen storage disease, type V 158
Biotinidase deficiency 157
Lynch syndrome 5 157
Mucopolysaccharidosis type 6 157
Glanzmann thrombasthenia 156
Hereditary spastic paraplegia 15 154
Hereditary factor VIII deficiency disease 152
Tay-Sachs disease 152
Pendred syndrome 150
Familial cancer of breast; Fanconi anemia complementation group J 149
Mucolipidosis type II; Pseudo-Hurler polydystrophy 149
Argininosuccinate lyase deficiency 147
Cowden syndrome 1 147
Maturity-onset diabetes of the young type 2 145
Aplastic anemia 143
Autosomal recessive nonsyndromic hearing loss 4 143
Usher syndrome type 1 143
Bethlem myopathy 1A 142
Hereditary diffuse gastric adenocarcinoma 140
Neuronal ceroid lipofuscinosis 139
Leber congenital amaurosis 8 138
Osteogenesis imperfecta 137
Catecholaminergic polymorphic ventricular tachycardia 1 136
Landau-Kleffner syndrome 135
Primary hyperoxaluria, type I 133
Classic homocystinuria 132
Neoplasm of uterine cervix 132
Niemann-Pick disease, type A 132
RASopathy 132
Neurodevelopmental delay 128
Neuronal ceroid lipofuscinosis 1 128
Severe myoclonic epilepsy in infancy 128
Autosomal recessive inherited pseudoxanthoma elasticum 127
Fanconi anemia complementation group C 127
Asphyxiating thoracic dystrophy 3 126
Dihydropyrimidine dehydrogenase deficiency 125
Hereditary nonpolyposis colon cancer 125
Pituitary adenoma 5, multiple types 125
PTEN hamartoma tumor syndrome 124
Sotos syndrome 123
CHARGE association 122
Multiple endocrine neoplasia, type 1 122
Cornelia de Lange syndrome 1 121
Autosomal recessive DOPA responsive dystonia 120
Autosomal recessive limb-girdle muscular dystrophy type 2D 119
Combined malonic and methylmalonic acidemia 119
Hypertrophic cardiomyopathy 1 119
Isovaleryl-CoA dehydrogenase deficiency 119
Mucopolysaccharidosis, MPS-III-A 119
Osteogenesis imperfecta type I 119
Breast and/or ovarian cancer 118
Li-Fraumeni syndrome 118
3-methylcrotonyl-CoA carboxylase 2 deficiency 117
Citrullinemia type I 117
LAMA2-related muscular dystrophy 116
Neoplasm 116
Neuronal ceroid lipofuscinosis 3 116
Qualitative or quantitative defects of dysferlin 116
Autosomal recessive limb-girdle muscular dystrophy type 2B 115
Bronchiectasis with or without elevated sweat chloride 1 115
Primary familial hypertrophic cardiomyopathy 115
Bardet-Biedl syndrome 10 114
Hereditary factor XI deficiency disease 114
Hereditary spherocytosis type 1 114
Arrhythmogenic right ventricular cardiomyopathy 113
Bardet-Biedl syndrome 2 113
Niemann-Pick disease, type B; Niemann-Pick disease, type A 113
Telangiectasia, hereditary hemorrhagic, type 2 113
Autosomal recessive congenital ichthyosis 1 111
Autosomal recessive osteopetrosis 1 111
Familial hypokalemia-hypomagnesemia 110
Hermansky-Pudlak syndrome 3 110
Holocarboxylase synthetase deficiency 110
Leber congenital amaurosis 110
Tyrosinemia type I 110
Usher syndrome type 1F 110
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 109
Schizophrenia 109
Agenesis of the corpus callosum with peripheral neuropathy 108
Deficiency of acetyl-CoA acetyltransferase 108
Hereditary spastic paraplegia 108
Nephrotic syndrome 108
Type 2 diabetes mellitus 108
Familial aplasia of the vermis 107
Polyglandular autoimmune syndrome, type 1 107
Squamous cell carcinoma of the skin 107
Joubert syndrome and related disorders 106
Papillary renal cell carcinoma type 1 105
Peroxisome biogenesis disorder 1A (Zellweger) 105
B-cell chronic lymphocytic leukemia 103
Breast-ovarian cancer, familial, susceptibility to, 4 103
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 103
Abnormality of the musculature 102
Cholestanol storage disease 102
Familial dysautonomia 102
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 102
Metaphyseal chondrodysplasia, McKusick type 102
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 102
Autism spectrum disorder 101
Hereditary fructosuria 101
Pontocerebellar hypoplasia type 6 101
Hypertrophic cardiomyopathy 4 100
Carnitine palmitoyl transferase 1A deficiency 99
Hereditary spastic paraplegia 4 99
Ornithine carbamoyltransferase deficiency 99
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 99
Bifunctional peroxisomal enzyme deficiency 98
Small cell lung carcinoma 98
Spongy degeneration of central nervous system 98
Hearing impairment 97
Mucopolysaccharidosis, MPS-II 97
Ellis-van Creveld syndrome; Curry-Hall syndrome 96
Pyruvate carboxylase deficiency 96
Breast-ovarian cancer, familial, susceptibility to, 3 95
Sandhoff disease 95
3-methylcrotonyl-CoA carboxylase 1 deficiency 94
Autosomal dominant Alport syndrome 94
Cobalamin C disease 94
GNE myopathy 94
Miyoshi muscular dystrophy 1 94
Congenital myasthenic syndrome 4A 93
Mucopolysaccharidosis type 1 93
Abnormal brain morphology 92
Fanconi anemia complementation group I 92
Hereditary spastic paraplegia 11 92
Imerslund-Grasbeck syndrome 92
Primary hyperoxaluria, type II 92
Bardet-Biedl syndrome 1 91
KBG syndrome 91
Nephronophthisis 91
Noonan syndrome 91
Cardiac arrhythmia 89
Lysinuric protein intolerance 89
Neural tube defects, folate-sensitive 89
Autosomal recessive nonsyndromic hearing loss 23 87
Gastrointestinal stromal tumor 87
Hypophosphatasia 86
Long QT syndrome 1 86
Rubinstein-Taybi syndrome due to CREBBP mutations 86
Charcot-Marie-Tooth disease 85
Chédiak-Higashi syndrome 85
Epileptic encephalopathy 85
Heimler syndrome 1 85
Melanoma 85
Peroxisome biogenesis disorder 85
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 85
Adrenal cortex carcinoma 84
Gorlin syndrome 84
Leigh syndrome 84
Malignant tumor of breast 84
Cockayne syndrome type 2 83
Dyskeratosis congenita, autosomal recessive 5 83
ALG6-congenital disorder of glycosylation 1C 82
Acyl-CoA dehydrogenase 9 deficiency 82
Autosomal recessive nonsyndromic hearing loss 3 82
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 82
Medulloblastoma 82
Retinitis pigmentosa 12; Leber congenital amaurosis 8 82
Coffin-Siris syndrome 1 81
Fanconi anemia complementation group D2 81
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 81
Juvenile polyposis syndrome 81
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 81
Muscle eye brain disease 81
Stargardt disease 81
Adult hypophosphatasia 80
Alkaptonuria 80
Brainstem glioma 80
Deficiency of butyryl-CoA dehydrogenase 80
Glycogen storage disease, type IV 80
Intellectual disability, autosomal dominant 6 80
Ornithine aminotransferase deficiency 80
Schwannomatosis 2 80
Short stature 80
Glucose-6-phosphate transport defect 79
Heimler syndrome 2 79
Mitochondrial disease 79
Renal cysts and diabetes syndrome 79
Sjögren-Larsson syndrome 79
Tuberous sclerosis 1 79
Developmental and epileptic encephalopathy 94 78
Intellectual disability, autosomal dominant 5 78
Neuronal ceroid lipofuscinosis 5 78
Deficiency of steroid 11-beta-monooxygenase 77
Von Hippel-Lindau syndrome 77
Glycogen storage disease, type VII 76
Mucopolysaccharidosis, MPS-III-B 76
Nephrotic syndrome, type 2 76
Autosomal recessive nonsyndromic hearing loss 1A 75
Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 75
Charcot-Marie-Tooth disease type 4 75
Ehlers-Danlos syndrome, classic type, 1 75
Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 75
Malignant hyperthermia, susceptibility to, 1 75
Megalencephalic leukoencephalopathy with subcortical cysts 1 75
Pyruvate dehydrogenase E3 deficiency 75
Achondrogenesis, type IB 74
DICER1-related tumor predisposition 74
Global developmental delay 74
Lysosomal acid lipase deficiency 74
Salla disease 74
Leber congenital amaurosis 1 73
Neuronal ceroid lipofuscinosis 2 73
Nijmegen breakage syndrome-like disorder 73
Retinitis pigmentosa 3 73
Abnormality of the nervous system 72
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 72
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 72
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 72
Pyridoxine-dependent epilepsy 72
Aspartylglucosaminuria 71
MPI-congenital disorder of glycosylation 71
Tyrosinase-positive oculocutaneous albinism 71
Xeroderma pigmentosum, group C 71
Hypohidrotic X-linked ectodermal dysplasia 70
Complex neurodevelopmental disorder 69
Developmental and epileptic encephalopathy, 11 69
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 69
Severe X-linked myotubular myopathy 69
Developmental and epileptic encephalopathy, 7 68
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 68
Pyknodysostosis 68
Severe combined immunodeficiency disease 68
Achromatopsia 3 67
Central core myopathy 67
Cerebrooculofacioskeletal syndrome 2 67
Peutz-Jeghers syndrome 67
Primary hyperoxaluria type 3 67
Ataxia-telangiectasia-like disorder 1 66
Autosomal recessive nonsyndromic hearing loss 77 66
Bardet-Biedl syndrome 12 66
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 66
Pulmonary hypertension, neonatal, susceptibility to 66
Retinitis pigmentosa 26 66
Seizure 66
Nephropathic cystinosis 65
Nonsyndromic genetic hearing loss 65
Rett syndrome, congenital variant 65
Arginase deficiency 64
Autosomal recessive limb-girdle muscular dystrophy type 2E 64
Baller-Gerold syndrome 64
Brugada syndrome 64
Hereditary von Willebrand disease 64
Pulmonary arterial hypertension 64
Succinate-semialdehyde dehydrogenase deficiency 64
Developmental and epileptic encephalopathy, 2 63
Infantile hypophosphatasia 63
Leber congenital amaurosis 13 63
Leber congenital amaurosis 2 63
Muscular dystrophy, limb-girdle, autosomal dominant 4 63
Wiedemann-Steiner syndrome 63
Developmental and epileptic encephalopathy, 9 62
Mitochondrial trifunctional protein deficiency 62
Alagille syndrome due to a JAG1 point mutation 61
Arrhythmogenic right ventricular dysplasia 9 61
Becker muscular dystrophy; Duchenne muscular dystrophy 61
Carnitine palmitoyl transferase II deficiency, severe infantile form 61
Hereditary pheochromocytoma-paraganglioma 61
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 60
Congenital anomaly of kidney and urinary tract 60
Developmental and epileptic encephalopathy, 13 60
Fanconi anemia complementation group O 60
Hereditary hemorrhagic telangiectasia 60
Intellectual disability, X-linked 102 60
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 60
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 60
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 60
Pitt-Hopkins syndrome 60
Achromatopsia 2 59
Deficiency of galactokinase 59
Homozygous familial hypercholesterolemia 59
Nemaline myopathy 59
Abetalipoproteinaemia 58
Charcot-Marie-Tooth disease, type I 58
Hurler syndrome 58
Juvenile myelomonocytic leukemia 58
Lissencephaly due to TUBA1A mutation 58
Long QT syndrome 2 58
Methylmalonic aciduria, cblA type 58
Multiple congenital anomalies-hypotonia-seizures syndrome 1 58
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 58
Primary familial dilated cardiomyopathy 58
Usher syndrome type 1D 58
Zellweger spectrum disorders 58
Bardet-Biedl syndrome 4 57
Citrullinemia, type II, adult-onset 57
Congenital muscular hypertrophy-cerebral syndrome 57
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 57
Familial X-linked hypophosphatemic vitamin D refractory rickets 57
Hereditary antithrombin deficiency 57
Hereditary factor IX deficiency disease 57
Telangiectasia, hereditary hemorrhagic, type 1 57
Aminoglycoside-induced deafness 56
Autism 56
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 56
Familial focal epilepsy with variable foci 56
Isolated thoracic aortic aneurysm 56
Non-small cell lung carcinoma 56
Qualitative or quantitative defects of dystrophin 56
Retinitis pigmentosa 4 56
BAP1-related tumor predisposition syndrome 55
Creatine transporter deficiency 55
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 55
Hermansky-Pudlak syndrome 1 55
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 55
Retinitis pigmentosa 12 55
Thrombocytopenia 55
Autoinflammatory syndrome 54
Autosomal recessive limb-girdle muscular dystrophy type 2C 54
Congenital disorder of glycosylation 54
Deficiency of hydroxymethylglutaryl-CoA lyase 54
Developmental and epileptic encephalopathy, 4 54
Hermansky-Pudlak syndrome 54
Male infertility with azoospermia or oligozoospermia due to single gene mutation 54
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 54
Walker-Warburg congenital muscular dystrophy 54
Actin accumulation myopathy 53
Amyotrophic lateral sclerosis type 1 53
Autosomal recessive limb-girdle muscular dystrophy 53
Congenital amegakaryocytic thrombocytopenia 53
Congenital contractural arachnodactyly 53
Cystinuria 53
Familial adenomatous polyposis 4 53
Fanconi anemia complementation group G 53
Hypogonadotropic hypogonadism 2 with or without anosmia 53
Microcephaly 5, primary, autosomal recessive 53
Mucolipidosis type IV 53
Recessive dystrophic epidermolysis bullosa 53
Retinoblastoma 53
Tubulinopathy 53
Chuvash polycythemia; Von Hippel-Lindau syndrome 52
Deficiency of butyrylcholinesterase 52
Hemochromatosis type 3 52
Papillary renal cell carcinoma, sporadic 52
Rhabdoid tumor predisposition syndrome 2 52
3-Methylglutaconic aciduria type 2 51
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 51
Deficiency of guanidinoacetate methyltransferase 51
Dilated cardiomyopathy 1A 51
Rhizomelic chondrodysplasia punctata type 1 51
Angelman syndrome 50
Congenital secretory diarrhea, chloride type 50
Familial multiple polyposis syndrome 50
Hereditary insensitivity to pain with anhidrosis 50
Hereditary leiomyomatosis and renal cell cancer 50
Hereditary pancreatitis 50
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 50
von Willebrand disease type 2 50
Autosomal dominant polycystic kidney disease 49
Bardet-Biedl syndrome 7 49