ClinVar Miner

Variants reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63347
Total variants unanimously reported as likely pathogenic: 41654

Breakdown by submitter #

Total submitters: 959
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Submitter Variants
Invitae 11397
GeneDx 8387
Counsyl 8068
Ambry Genetics 2764
CeGaT Praxis fuer Humangenetik Tuebingen 2034
Integrated Genetics/Laboratory Corporation of America 2028
Blueprint Genetics 1463
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1446
NIHR Bioresource Rare Diseases, University of Cambridge 1120
Database of Curated Mutations (DoCM) 1114
University of Washington Center for Mendelian Genomics, University of Washington 1074
Mendelics 1058
Baylor Genetics 964
Myriad Women's Health, Inc. 914
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 827
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 802
LDLR-LOVD, British Heart Foundation 789
Centre for Mendelian Genomics,University Medical Centre Ljubljana 766
Color Health, Inc 717
Genetic Services Laboratory, University of Chicago 689
Quest Diagnostics Nichols Institute San Juan Capistrano 628
Institute of Human Genetics, University of Leipzig Medical Center 610
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 591
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 566
Athena Diagnostics Inc 530
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 525
ISCA site 1 524
SIB Swiss Institute of Bioinformatics 470
Illumina Clinical Services Laboratory,Illumina 448
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 434
Center for Human Genetics, Inc,Center for Human Genetics, Inc 393
Center for Medical Genetics Ghent,University of Ghent 388
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 384
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 364
Institute of Human Genetics, Klinikum rechts der Isar 346
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 326
Fulgent Genetics,Fulgent Genetics 321
Broad Institute Rare Disease Group, Broad Institute 316
Genomic Research Center, Shahid Beheshti University of Medical Sciences 300
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 273
Natera, Inc. 270
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 230
PreventionGenetics, PreventionGenetics 229
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 220
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 217
Department of Pathology and Laboratory Medicine,Sinai Health System 208
Ocular Genomics Institute, Massachusetts Eye and Ear 208
Mayo Clinic Laboratories, Mayo Clinic 207
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 201
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 197
Service de Génétique Moléculaire,Hôpital Robert Debré 194
Gharavi Laboratory,Columbia University 192
Stanford Center for Inherited Cardiovascular Disease, Stanford University 186
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 179
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 177
Sharon lab,Hadassah-Hebrew University Medical Center 176
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 174
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 168
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 166
Centogene AG - the Rare Disease Company 164
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 163
Institute of Medical Molecular Genetics, University of Zurich 161
Diagnostic Laboratory, Strasbourg University Hospital 160
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 160
Génétique des Maladies du Développement, Hospices Civils de Lyon 157
ClinGen PAH Variant Curation Expert Panel 153
Department of Psychiatry,Nagoya University 152
UCLA Clinical Genomics Center, UCLA 152
Undiagnosed Diseases Network,NIH 148
Hadassah Hebrew University Medical Center 146
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 145
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 143
Molecular Biology Laboratory, Fundació Puigvert 143
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 142
Laboratory of Genetics in Ophthalmology,Institut Imagine 142
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 141
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 131
Robarts Research Institute,Western University 130
NeuroMeGen,Hospital Clinico Santiago de Compostela 125
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 122
GenomeConnect - Simons Searchlight 122
Johns Hopkins Genomics, Johns Hopkins University 116
PXE International 114
Institute of Human Genetics,Cologne University 106
Knight Diagnostic Laboratories, Oregon Health and Sciences University 104
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 103
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 102
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 100
New York Genome Center 100
Yale Center for Mendelian Genomics,Yale University 99
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 99
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 98
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 96
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 96
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 93
Genome Diagnostics Laboratory, The Hospital for Sick Children 91
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 87
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 84
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 83
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 83
Sydney Genome Diagnostics,Children's Hospital Westmead 80
Fundacion Hipercolesterolemia Familiar 77
Institute of Human Genetics,University of Wuerzburg 74
Division of Human Genetics,Children's Hospital of Philadelphia 73
Center of Genomic medicine, Geneva,University Hospital of Geneva 73
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 72
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 71
CHU Sainte-Justine Research Center,University of Montreal 70
Clinical Genetics laboratory, University of Goettingen 69
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 68
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 65
GeneReviews 65
Department of Ophthalmology and Visual Sciences Kyoto University 65
University of Washington Department of Laboratory Medicine, University of Washington 65
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 63
Genomic Medicine Lab, University of California San Francisco 63
Wessex Regional Genetics Laboratory,Salisbury District Hospital 61
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 60
Department of Zoology Govt. MVM College 58
Molecular Genetics Laboratory,London Health Sciences Centre 57
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 56
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 56
Department of Vascular Biology,Beijing Anzhen Hospital 56
ClinGen CDH1 Variant Curation Expert Panel 55
Section for Clinical Neurogenetics,University of Tübingen 55
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 54
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 54
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 53
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 53
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 52
Department of Medical Genetics, Oslo University Hospital 51
CSER _CC_NCGL, University of Washington 51
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 51
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul 51
Precision Medicine Center,Zhengzhou University 50
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 49
GeneKor MSA 49
ISCA site 6 48
Medical Genetics, University of Parma 48
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 48
Autoinflammatory diseases unit,CHU de Montpellier 48
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 47
Sharing Clinical Reports Project (SCRP) 46
Human Genetics - Radboudumc,Radboudumc 46
Laboratory of Molecular Genetics,CHU RENNES 45
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 45
Inserm U 954, Faculté de Médecine de Nancy 44
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 44
Department of Pediatrics, Gifu University 44
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 43
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 43
Laboratoire de Génétique Moléculaire, CHU Bordeaux 43
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 43
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 43
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 42
Center for Human Genetics,University of Leuven 41
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 41
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 40
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 40
Centre for Genomic and Experimental Medicine,University of Edinburgh 39
Alexion Pharmaceuticals, Inc 39
Cirak Lab,University Hospital Cologne 38
ClinGen Hearing Loss Variant Curation Expert Panel 38
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 37
Kasturba Medical College, Manipal University 37
Iberoamerican FH Network 37
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 37
ClinGen PTEN Variant Curation Expert Panel 37
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 37
Genome Sciences Centre,British Columbia Cancer Agency 36
Department of Genetics,Sultan Qaboos University Hospital, Oman 36
Cavalleri Lab, Royal College of Surgeons in Ireland 35
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 34
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 33
Center for Genetic Medicine Research,Children's National Medical Center 33
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 32
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 31
Richard Lifton Laboratory, Yale University School of Medicine 30
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 30
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 30
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 29
Kariminejad - Najmabadi Pathology & Genetics Center 29
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 29
Reproductive Health Research and Development,BGI Genomics 29
Genetics Department,Polish Mother's Memorial Hospital Research Institute 29
Molecular Genetics Laboratory,Institute for Ophthalmic Research 28
Leiden Open Variation Database 28
Inherited Neuropathy Consortium 28
Eye Genetics Research Group,Children's Medical Research Institute 27
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 27
Clinical Genomics Program, Stanford Medicine 27
Huiwen Zhang's lab,Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 27
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 26
Birmingham Platelet Group; University of Birmingham 26
Neurogenetics Laboratory - MEYER,AOU Meyer 26
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 26
ClinGen Myeloid Malignancy Variant Curation Expert Panel 26
Cancer Genomics Group,Japanese Foundation For Cancer Research 26
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 25
SingHealth Duke-NUS Institute of Precision Medicine 25
Wendy Chung Laboratory,Columbia University Medical Center 25
Kids Research, The Children's Hospital at Westmead 25
Uitto Lab,Thomas Jefferson University 25
Institute for Human Genetics, University Hospital Essen 24
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 24
Academic Department of Medical Genetics, University of Cambridge 23
Clinical Genetics, Erasmus University Medical Center 23
Rare Disease Group, Clinical Genetics,Karolinska Institutet 23
Chan Lab,Boston Children's Hospital 22
ClinGen RASopathy Variant Curation Expert Panel 22
Liping Wei Laboratory,Peking University 22
Claritas Genomics 21
ClinVar Staff, National Center for Biotechnology Information (NCBI) 21
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 21
Shaikh Laboratory, University of Colorado 21
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 21
Center for Statistical Genetics, Columbia University 21
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 21
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 21
Medical Affairs,Enzyvant 21
Shen Lab,Columbia University Medical Center 21
Laboratory of Molecular Genetics and Genomics,Rennes University Hospital 21
Center for Human Disease Modeling,Duke University Medical Center 20
Breda Genetics srl 20
CZECANCA consortium 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
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 19
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 19
Molecular Medicine,University of Leeds 19
NxGen MDx 19
Center for Reproductive Medicine, Peking University Third Hospital 19
Laboratory of Metabolic Disorders, Peking University First Hospital 18
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 18
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 18
TIDEX, University of British Columbia 18
GeneID Lab - Advanced Molecular Diagnostics 18
Genetic Diseases Diagnostic Center,Koc University Hospital 18
RettBASE 17
Medical Research Institute,Tokyo Medical and Dental University 17
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 17
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 17
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 17
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 17
Genetics Institute, Tel Aviv Sourasky Medical Center 17
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 17
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 16
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 16
Neurogenetics Research Program, University of Adelaide 16
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 16
Tehran Medical Genetics Laboratory 16
Human Genetics Group at Institute of Prion Diseases London,University College London 16
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 16
Elsea Laboratory,Baylor College of Medicine 15
Institute of Human Genetics, Uniklinik RWTH Aachen 15
GenePathDx,Causeway Health Care Private Ltd 15
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 15
Hehr Laboratory,Center for Human Genetics - University of Regensburg 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
Translational Genomics Laboratory,University of Maryland School of Medicine 14
Medical Molecular Genetics Department, National Research Center 14
Raymond Lab,University of Cambridge 14
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 14
Ding PR Lab,Sun Yat-sen University Cancer Center 14
Laboratory of Human Genetics,Universidade de São Paulo 13
UW Hindbrain Malformation Research Program,University of Washington 13
Section on Medical Neuroendocrinolgy,National Institutes of Health 13
Genetics Department,University Hospital of Toulouse 13
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 13
Laboratory of Medical Genetics, University of Torino 13
Department of Medical Genetics,Faculty of Medicine, Istanbul University 13
Constitutional Genetics Lab,Leon Berard Cancer Center 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 12
Bristol Genetics Laboratory - North Bristol NHS Trust,Southmead Hospital - Pathology Sciences 12
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 12
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 12
Bruce Lefroy Centre, Murdoch Childrens Research Institute 12
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 12
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 12
Center of Medical Genetics,Central South University 12
Institute of Reproductive Genetics, University of Münster 12
Klaassen Lab,Charite University Medicine Berlin 12
Biochemistry Laboratory of CDMU,Chengde Medical University 12
Genome Medicine,Institute for Basic Research in Developmental Disabilities 12
Godley laboratory, The University of Chicago 12
Laboratory of Molecular Genetics,Children's Memorial Health Institute 12
Medical Genetics Laboratory,CHRU Nancy 12
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 12
Pathway Genomics 11
Institute for Integrative and Experimental Genomics,University of Luebeck 11
Centre of Medical Genetics, University of Antwerp 11
Daryl Scott Lab,Baylor College of Medicine 11
New Leaf Center 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 11
HSP Biomedical Diagnostics Department,Hospital San Pedro 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
Institute of Vision Research, Yonsei University College of Medicine 11
Pediatrics,All India Institute of Medical Sciences, New Delhi 11
Genetics,Medical University of Vienna 10
Dan Cohn Lab,University Of California Los Angeles 10
Pediatric Genomics Discovery Program,Yale University 10
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 10
ClinGen TP53 Variant Curation Expert Panel,ClinGen 10
Genetics and Genomics Program,Sidra Medicine 10
Fondazione Telethon,Telethon Institute of Genetics and Medicine 10
Centre for Human Genetics 9
Albrecht-Kossel-Institute,Medical University Rostock 9
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 9
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 9
Molecular Endocrinology Laboratory,Poznan University of Medical Sciences 9
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 9
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 9
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 9
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 9
Molecular Oncology Research Center,Barretos Cancer Hospital 9
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 9
Division of Human Genetics,Medical University Innsbruck 8
Sema4,Sema4 8
Willoughby Group, Queen's University Belfast 8
Centre for Translational Omics - GOSgene,University College London 8
Pediatric Department, Peking University First Hospital 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
Human Genetics Unit,University of Colombo 8
Heart Center,Academic Medical Center Amsterdam 8
Santos-Cortez Lab,University of Colorado School of Medicine 8
Institute for Genomic Medicine, Nationwide Children's Hospital 8
Molecular Biology Laboratory, University of Basrah 8
Faculté Pluridciplinaire Nador,Université Mohamed Premier 8
Exeter Molecular Genetics Laboratory 7
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 and Genomics Laboratory,University of Washington 7
National Institute of Mental Health and Neurosciences 7
Laboratory of Prof. Karen Avraham,Tel Aviv University 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
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 7
Hardcastle Lab,UCL Institute of Ophthalmology 7
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 7
Dash Lab,University Health Network 7
Molecular Genetics Laboratory,University Hospital Copenhagen 7
Dept. of Evolution and Genomic Sciences,University of Manchester 7
Paediatric Orthopaedics Research Lab,Christian Medical College 7
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 7
Xu Lab, Pediatric Cardiology,Xinhua Hospital, affiliated to Shanghai Jiao Tong University School of Medicine 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
Gleeson Lab,University of California San Diego - Department of Neuroscience 6
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 6
Molecular Genetics Laboratory; Baylor College of Medicine 6
ISCA site 14 6
Sydney Children's Hospital, SCHN 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
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 6
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 6
Cytogenetics Laboratory,Banaras Hindu University 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
Research and Development, ARUP Laboratories 6
Center of Medical Genetics and Primary Health Care 6
Phosphorus, Inc. 6
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 6
Caldovic Lab,Children's National Health System 6
Dept. of Medical Genetics, Telemark Hospital Trust 6
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 6
Polak associated Lab,IMAGINE Institute 6
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 6
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 6
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 6
Finnell Lab,Baylor College of Medicine 6
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 6
Institute of Medical Sciences, Banaras Hindu University 6
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 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
Nilou-Genome Lab 6
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 6
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 5
SNPedia 5
George Lab Vanderbilt University 5
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 5
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 5
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 5
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 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
Embryology Laboratory,Victor Chang Cardiac Research Institute 5
Ege University Pediatric Genetics,Ege University 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
Laboratorio de Citogenómica y Microarreglos,Universidad Autonoma de Nuevo Leon 5
True Health Diagnostics 5
GeniaGeo, Laboratorio Genia 5
Pediatric Metabolic Diseases,Hacettepe University 5
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 5
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 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
GBinsight Genetic Testing by GB HealthWatch,Genben Lifesciences Corporation 5
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 5
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 5
The Center for 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
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 5
Division of Medical Genetics, University of Washington 5
CeMIA 5
Wanghongyan lab,Fudan University 5
Department of Ophthalmology,California Pacific Medical Center 5
Immunogenetics of Pediatric Autoimmune Diseases,Institut Imagine 5
Wainwright Lab,University Of Queensland 5
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 5
MVZ Dr. Eberhard & Partner Dortmund 4
Laboratorio de Genetica Humana; Universidad de los Andes 4
Wellcome Centre for Mitochondrial Research,Newcastle University 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
Colorectal Cancer Research Lab, Singapore General Hospital 4
Gene Discovery Core-Manton Center,Boston Children's Hospital 4
Molecular and Medical Genetics Group,King's College London 4
Genetic Diagnostic Laboratory,University of Szeged 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
Department of Ophthalmology,Flinders University 4
Department of Medical Genetics, University Hospital of North Norway 4
Centre for Genomic Sciences,University of Hong Kong 4
MVZ Praenatalmedizin und Genetik Nuernberg 4
Molecular Medicine Center, Medical University of Sofia 4
Columbia University Medical Center,Columbia University 4
Institute of Medical Genetics,University of Zurich 4
Computational Biology Unit,University of Bari 4
Experimental Epileptology, AG Lerche,Hertie Institute for Clinical Brain Research 4
Epi4K Consortium 4
Department of Neurology,Taipei Veterans General Hospital 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
The Raphael Recanati Genetics Institute,Rabin Medical Center 4
Department of Medical Genetics,University of Pecs 4
Institute of Bioinformatics 4
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 4
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 4
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 4
Klinisk genetik och genomik Research,Gothenburg University 4
Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center,Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 4
Medical Genetics Laboratory,Tarbiat Modares University 4
Dongguan Key Laboratory of Genetics and Infectious Diseases,Dongguan Institute of Pediatrics 4
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 4
ALS/MND Lab,University of Malta 4
Human Developmental Genetics,Institut Pasteur 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
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 4
CMT Laboratory,Bogazici University 4
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 3
Human Developmental Genetics Laboratory,Medical College of Wisconsin 3
Molecular Diagnostics Laboratory,Seoul National University Hospital 3
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) 3
ISCA site 15 3
James Howe Lab,University of Iowa Hospital and Clinics 3
University of British Columbia 3
Bone Marrow Failure laboratory,Queen Mary University London 3
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 3
Dr. Faghihi's Medical Genetic Center 3
Department of Internal Medicine, University of Texas Health Science Center at Houston 3
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 3
Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere 3
Aziz Sancar Institute of Experimental Medicine,Istanbul University 3
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 3
Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University 3
Biology Pathology Center,Lille University Hospital 3
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 3
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 3
Weber Lab,Hannover Medical School 3
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 3
Human Development and Health,University of Southampton 3
The Genetics Institute,Rambam Health Care Campus 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
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 3
Medical Genetics Laboratory,Bambino Gesù Children's Hospital 3
Department of Human Genetics, University Hospital Magdeburg 3
Cipher Gene Genetics Laboratory,Cipher Gene, Inc 3
Reproductive Development, Murdoch Childrens Research 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
INGEBI, INGEBI / CONICET 3
University of Iowa Renal Genetics Clinic,University of Iowa 3
Molecular Pathology and Genetics,King Abdulaziz Medical City, Ministry of National Guard - Health Affairs 3
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 3
College of Medicine Research Centre,King Saud Univeristy 3
Department of Molecular Bıology and Genetics,Istanbul Technical University 3
Medicover Genetics GmbH,Medicover Humangenetik Berlin-Lichtenberg MVZ 3
DeNA Laboratory, DeNA Laboratory 3
MAGI's Lab - Research,MAGI Group 3
MNM Diagnostics 3
Zarate Arkansas Children's Genetics Clinic,Arkansas Children's Hospital 3
Medical Genetics Lab, Xi'an Fourth Hospital 3
Pediatrics, MediClubGeorgia 3
Pediatric Endocrinology Clinic,Ege University School of Medicine 3
UF de génétique clinique,APHP Hôpital Armand Trousseau 3
Genetics and Personalized Medicine,Danish Epilepsy Center 3
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 3
School of Computer Science,University of Waterloo 3
OMIM 2
Engle Laboratory,Boston Children's Hospital 2
Molecular Genetics Laboratory,Edith Wolfson Medical Center 2
MGZ Medical Genetics Center 2
Michigan Medical Genetics Laboratories,University of Michigan 2
Health in Code S.L. 2
Institute for Genetics of Heart Diseases, University Hospital Muenster 2
ITMI 2
Molecular Genetics and Enzymology, National Research Centre 2
Genomics and Pathology Services,Washington University in St.Louis 2
Department of Breast and Endocrine Surgery,Kumamoto University 2
TilsonLab,Columbia University 2
Simons Lab, The University of Queensland 2
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 2
U955 Equipe 11,INSERM 2
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center 2
Department of Hematology,University of Health Sciences 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
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
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 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
Department of Medical Genetics, National Institute of Health 2
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 2
Thoracic and Gastrointestinal Oncology Branch/CCR/NCI,NIH 2
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 2
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 2
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 2
Biotechnology Research Center,Pasteur Institute of Iran 2
UMR-S1161,Institut national de la santé et de la recherche médicale 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
Hemoglobin and Genome Lab,University of Campinas 2
SBielas Lab, Department of Human Genetics,University of Michigan 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
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
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
Human Genetics Laboratory,Faculty of Medicine of Tunis 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
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
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
Molecular Pathology Laboratory,Cleveland Clinic 2
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 2
Genome Sciences and Precision Medicine Center,Medical College of Wisconsin 2
Human Genetics Department,Tarbiat Modares University 2
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 2
Genesis Genoma Lab, Genesis Genoma Lab 2
VIB - Center for Molecular Neurology,University of Antwerp 2
Institute of Medical Genetics,ASUI Udine 2
Clinical Genetics Branch, National Institutes of Health 2
Department of Pediatrics, Graduate School of Medical Sciences,Kyushu University 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2
Department of Biochemistry, Faculty of Medicine, University of Khartoum 2
Lab of Endocrine and Metabolic Research,Istituto Auxologico Italiano 2
Linda Baker Laboratory, UT Southwestern Medical Center 2
Molecular Diagnosis Center for Deafness 2
Translational Omics Lab at Great Ormond Street Institute of Child Health,University College London 2
NYU Undiagnosed Diseases Program,NYU School of Medicine 2
Reproductive Endocrine Unit, Massachusetts General Hospital 2
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 2
Biological Sciences,International Islamic University, Islamabad 2
Heon Lab,The Hospital for Sick Children 2
Medical Genetics,CHU Nice 2
Department of Periodontology,Nanjing Stomatological Hospital, Medical School of Nanjing University 2
Department of Laboratory Medicine,Yonsei University College of Medicine 2
Pars Genome Lab 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
LifeCell International Pvt. Ltd 2
Gastroenterology Department,Qilu Hospital of Shandong University 2
National Institute of Neuroscience,National Center of Neurology and Psychiatry 2
Division of Medical Genetics,Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 2
Department of Heart Center,Qingdao Women and Children's Hospital 2
Aleixo Muise Laboratory, The Hospital for Sick Children 2
Department of Reproductive Endocrinology,Zhejiang Provincial People's Hospital 2
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 2
UCL Queen Square Institute of Neurology,University College London 2
Department of Medical Basic Sciences, Neurosciences and Sense Organs,University of Bari 2
Beijing Obstetrics and Gynecology Hospital,Capital Medical University 2
Institute for Human Genetics,University Clinic Freiburg 1
King Laboratory,University of Washington 1
Laboratory of genome diagnostics,Academic Medical Center, University of Amsterdam 1
Neurogenetics Department,Cyprus Institute of Neurology and Genetics 1
Molecular Diagnostics Laboratory,Hospital Sainte-Justine 1
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 1
Centre de Genetique Humaine,Institut de Pathologie et de Genetique 1
SEALS Genetics Laboratory,South Eastern Area Laboratory Services, NSW Health Pathology 1
Intergen Genetic Diagnosis and Research Centre,Intergen Genetic Diagnosis and Research Centre 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 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
Genologica Medica 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
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 1
Kariminejad-Najmabadi Pathology and Genetics Center,KNPGC 1
Center for Personalized Medicine, Roswell Park Cancer Institute 1
INSERM UMR 1170,INSERM 1
Care4Rare-SOLVE, CHEO 1
Center for Molecular Medicine, University Medical Center Utrecht 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
Department of Clinical Genetics,Tartu University Hospital 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
Kruer lab,Phoenix Children's Hospital 1
McDonnell Genome Institute,Washington University in St. Louis 1
Nowon Eulji Medical Center, Nowon Eulji Medical Center 1
Research Centre for Medical Genetics 1
Prenatal Medicine Munich,Prenatal Medicine Munich 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 1
HerediLab, Inc. 1
Center for Genomic Medicine,University of Copenhagen 1
Sidra Medical and Research Center 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
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 1
Dhiti Omics Technologies Pvt. Ltd. 1
Centre for Molecular Medicine and Therapeutics,University of British Columbia 1
Human Genetics and Genome Research Division,National Research Centre 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 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
Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 1
Medical Genetics,Meyer Children Hospital 1
Korbonits Lab,Queen Mary University of London 1
Biochimie Génétique et moléculaire, CHUGA 1
Institute of Human Genetics,University Hospital of Duesseldorf 1
Neurology Department,Peking University First Hospital 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 1
Molecular Pathology, SA Pathology 1
Centre for Molecular Diagnostics & Cell Biology,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
Department of Animal Sciences,Quaid-i-Azam University 1
Clinical Genetics Laboratory,Region Ostergotland 1
Akbari laboratory,Tarbiat Modares University 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 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
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 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
Institute of Reproductive and Stem Cell Engineering,Central South University 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
Center for Medical Genetics, Keio University School of Medicine 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 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
Dpt. of Clinical Genetics, Molecular Genetics Lab 4062, University Hospital of Copenhagen, Rigshospitalet 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
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 1
Children's Hospital of Soochow University,Soochow University 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1
Variantyx, Inc. 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 Functional Genomics,Research Centre for Medical Genetics 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
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 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
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
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
The Division of Genetics and Genomic Medicine,Washington University School of Medicine 1
Myelin Disorders Clinic,Children's Medical Center 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
Genetics and Metabolism Laboratory,Children Hospital Zhejiang University School of Medicine 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
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
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 1
Medical Genetics Department,Assistance Publique Hopitaux de Marseille 1
Neuromuscular and Neuropediatric Research Group,Germans Trias i Pujol Research Institute 1
deCODE genetics, Amgen 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
Laboratory of Molecular Genetics,Montpellier University Hospital 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics,Sofia University, St. Kliment Ohridski 1
Clinical Genetics Laboratory,Emek Medical Center 1
Department of Psychiatry and Medical Psychology,Medical University Pleven 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1
Belal Azab Laboratory,The University of Jordan 1
Sección de Genética Clínica, Hospital Clinico Universidad de Chile 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
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1
Stankiewicz Research Laboratory, Baylor College of Medicine 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
Laboratorio de Genética, Hospital Universitario Clinico San Cecilio 1
Genetic Diagnosis Center, Faculty of Medicine, Trakya University 1
Neurology Laboratory,National Cheng Kung University Hospital 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
Clinical Genetics Laboratory, Skane University Hospital Lund 1
Laboratory of Genetic Engineering, National Research Center for Hematology 1
Division of Human Genetics,University Cheikh Anta Diop 1
Medical Genetics,Spectrum Health 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
Rare Disease Group,University of Exeter 1
Centre for translational and clinical research,Clinical 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
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
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
MAGIC Laboratory,Stellenbosch University 1
Unit of Medical Genetics, Department of Laboratory Medicine,San Giovanni Calibita Fatebenefratelli Hospital 1
Division of Biology and Genetics,University of Brescia 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
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
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
UOS Fisiopatologia delle Anemie,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1
Department of Endocrinology, Metabolism and Genetics,Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 1
Cytogenetics & Genomics Research Unit,University of Calcutta 1
Research Unit of Respiratory Disease,The Second Xiangya Hospital of Central South University 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, Institute for Cardiovascular Science,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
Medical Genetics,Haseki Training and Research Hospital 1
Ladle Lab,Johns Hopkins 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
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1
Congenital and Hereditary Diseases, Charles Nicolle Hospital 1
Swisher Lab, University of Washington 1
Department of Medical Laboratory,Affiliated Hospital of Southwest Medical University 1
Human Neuroscience,La Sapienza University of Rome 1
Sayer Lab, Translational and Clinical Research Institute,Newcastle Unversity 1
Shaanxi Institute for Pediatric Diseases,Xi'an Children's Hospital 1
Department of Hematologic Diagnostics and Genetics,Jagiellonian University Hospital in Krakow 1
Institute of Dermatology,Anhui Medical University 1
Clinical Genetics Service,Universitary Hospital 12 de Octubre 1
Heart Failure and Familial Heart Diseases Unit,Hospital Universitario Virgen de la Victoria 1
Bioinformatics Unit,Institut Pasteur de Montevideo 1

Breakdown by condition #

Total conditions: 5387
Download table as spreadsheet
Condition Variants
not provided 16839
Hereditary cancer-predisposing syndrome 2027
Familial hypercholesterolemia 1 1045
Retinal dystrophy 1025
See cases 890
Inborn genetic diseases 887
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 805
Marfan syndrome 627
Hereditary breast and ovarian cancer syndrome 594
Neurofibromatosis, type 1 481
Retinitis pigmentosa 470
Ataxia-telangiectasia syndrome 457
Familial cancer of breast 425
Primary dilated cardiomyopathy 392
Lung adenocarcinoma 388
Intellectual disability 365
Adenocarcinoma of stomach 360
Neoplasm of the large intestine 352
Squamous cell carcinoma of the head and neck 336
Phenylketonuria 331
Breast neoplasm 326
Hypertrophic cardiomyopathy 324
Cohen syndrome 322
Autosomal recessive polycystic kidney disease 320
Lynch syndrome 318
Cardiovascular phenotype 307
Cystic fibrosis 307
Hereditary nonpolyposis colorectal neoplasms 300
Malignant neoplasm of body of uterus 287
Malignant melanoma of skin 279
Squamous cell lung carcinoma 277
Nemaline myopathy 2 276
Transitional cell carcinoma of the bladder 276
Rare genetic deafness 265
Hepatocellular carcinoma 256
Pancreatic adenocarcinoma 242
not specified 241
Neoplasm of brain 236
Glycogen storage disease, type II 229
Wilson disease 228
Carcinoma of esophagus 227
Ovarian Serous Cystadenocarcinoma 225
Glioblastoma 223
Charlevoix-Saguenay spastic ataxia 218
Non-ketotic hyperglycinemia 214
Cardiomyopathy 213
Junctional epidermolysis bullosa gravis of Herlitz 209
Primary ciliary dyskinesia 208
Neoplasm of ovary 205
Alport syndrome, autosomal recessive 201
Early infantile epileptic encephalopathy with suppression bursts 199
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 199
Stargardt disease 1 193
Multiple myeloma 189
Adenocarcinoma of prostate 186
Acute myeloid leukemia 174
Uterine Carcinosarcoma 174
Neurodevelopmental disorder 173
Breast-ovarian cancer, familial 2 168
Fanconi anemia, complementation group A 160
Kabuki syndrome 1 160
Maple syrup urine disease 160
Autosomal recessive nonsyndromic deafness 159
Finnish congenital nephrotic syndrome 159
Niemann-Pick disease type C1 155
Usher syndrome, type 2A; Retinitis pigmentosa 39 154
Alstrom syndrome 153
Familial hypercholesterolemia 153
Glycogen storage disease type III 142
Duchenne muscular dystrophy 141
Very long chain acyl-CoA dehydrogenase deficiency 141
Long QT syndrome 136
Familial thoracic aortic aneurysm and aortic dissection 134
Fanconi anemia 133
Neoplasm of uterine cervix 132
Alport syndrome 1, X-linked recessive 130
Limb-girdle muscular dystrophy, type 2A 124
Jeune thoracic dystrophy 123
Bloom syndrome 121
Breast-ovarian cancer, familial 1 121
none provided 121
Propionic acidemia 120
Pseudoxanthoma elasticum 120
Neoplasm 116
Galactosylceramide beta-galactosidase deficiency 115
Ehlers-Danlos syndrome, type 4 112
Hyperinsulinemic hypoglycemia, familial, 1 111
Microcephaly, normal intelligence and immunodeficiency 111
Pendred syndrome 111
Primary familial hypertrophic cardiomyopathy 109
Schizophrenia 108
Squamous cell carcinoma of the skin 107
Glutaric aciduria, type 1 105
Renal cell carcinoma, papillary, 1 104
Chronic lymphocytic leukemia 103
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 103
Fabry disease 103
Bardet-Biedl syndrome 100
Medium-chain acyl-coenzyme A dehydrogenase deficiency 99
Li-Fraumeni syndrome 98
Maturity-onset diabetes of the young, type 2 98
Metachromatic leukodystrophy 98
Small cell lung carcinoma 98
Smith-Lemli-Opitz syndrome 97
Tuberous sclerosis 2 97
Short-rib thoracic dysplasia 3 with or without polydactyly 96
Peroxisome biogenesis disorder 1A (Zellweger) 95
Merosin deficient congenital muscular dystrophy 94
PTEN hamartoma tumor syndrome 94
Tay-Sachs disease 94
Autosomal recessive limb-girdle muscular dystrophy type 2B 93
Hearing impairment 93
Hereditary diffuse gastric cancer 93
Ellis-van Creveld syndrome 92
Polycystic kidney disease, adult type 92
Abnormality of brain morphology 90
Arrhythmogenic right ventricular cardiomyopathy 90
Familial adenomatous polyposis 1 90
Neuronal ceroid lipofuscinosis 1 90
Anauxetic dysplasia 88
Deficiency of alpha-mannosidase 88
Congenital hyperammonemia, type I 86
Mucopolysaccharidosis type 6 86
Noonan syndrome 86
Usher syndrome type 1 86
MYH-associated polyposis 85
Usher syndrome type 1F 85
Charcot-Marie-Tooth disease 84
Metaphyseal chondrodysplasia, McKusick type 84
Mucolipidosis type II; Pseudo-Hurler polydystrophy 83
Classic homocystinuria 82
Dilated cardiomyopathy 1G 81
Melanoma 81
Brainstem glioma 80
Hereditary fructosuria 80
Muscle eye brain disease 80
Renal carnitine transport defect 80
Medulloblastoma 79
Neuronal ceroid lipofuscinosis 3 79
Niemann-Pick disease, type A 79
Bethlem myopathy 1 78
Deafness, autosomal recessive 2; Usher syndrome type 1 78
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 78
Familial cancer of breast; Fanconi anemia, complementation group J 77
Short stature 77
Congenital disorder of glycosylation, type Ia 76
Charcot-Marie-Tooth disease, type 2 75
Familial hypertrophic cardiomyopathy 1 75
Hereditary factor XI deficiency disease 75
Fanconi anemia, complementation group C 74
Biotinidase deficiency 73
Cornelia de Lange syndrome 1 73
Adrenoleukodystrophy 71
Glanzmann thrombasthenia 71
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 71
Epileptic encephalopathy 69
Glycogen storage disease, type V 69
Lynch syndrome I 69
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 69
Imerslund-Gräsbeck syndrome 68
Renal cysts and diabetes syndrome 68
Bardet-Biedl syndrome 10 67
CHARGE association 67
Deafness, autosomal recessive 1A 67
Adrenocortical carcinoma 66
Brugada syndrome 66
Severe myoclonic epilepsy in infancy 66
Multiple endocrine neoplasia, type 1 65
Sotos syndrome 1 65
Usher syndrome 65
Complex neurodevelopmental disorder 64
Citrullinemia type I 63
Osteogenesis imperfecta 63
Alport syndrome 3, autosomal dominant 62
Lysosomal acid lipase deficiency 62
Rubinstein-Taybi syndrome 1 62
Polyglandular autoimmune syndrome, type 1 61
Progressive sclerosing poliodystrophy 61
Retinitis pigmentosa 39 61
Stargardt disease 61
Tyrosinemia type I 61
Gastrointestinal stromal tumor 60
Mucopolysaccharidosis, MPS-III-B 60
Rasopathy 60
Sjögren-Larsson syndrome 60
Dihydropyrimidine dehydrogenase deficiency 59
Infantile hypophosphatasia 59
Leber congenital amaurosis 1 59
Pulmonary arterial hypertension 59
Hereditary factor VIII deficiency disease 58
Hereditary nonpolyposis colon cancer 58
Mental retardation, autosomal dominant 6 58
Retinitis pigmentosa 15 58
Catecholaminergic polymorphic ventricular tachycardia 57
Deficiency of acetyl-CoA acetyltransferase 57
Leber congenital amaurosis 57
RYR1-Related Disorders 57
Von Hippel-Lindau syndrome 57
GNE myopathy 56
Isolated thoracic aortic aneurysm 56
Non-small cell lung cancer 56
Long QT syndrome 1 54
Sandhoff disease 54
Spongy degeneration of central nervous system 54
Fanconi anemia, complementation group O 53
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 53
Telangiectasia, hereditary hemorrhagic, type 2 53
Argininosuccinate lyase deficiency 52
Autism spectrum disorder 52
Isovaleryl-CoA dehydrogenase deficiency 52
Papillary renal cell carcinoma, sporadic 52
Autistic disorder of childhood onset 51
Carnitine palmitoyltransferase II deficiency, infantile 51
Fumarase deficiency 51
Joubert syndrome 51
Malignant tumor of breast 51
Thrombocytopenia 51
Usher syndrome, type 2A 51
Werner syndrome 51
Bardet-Biedl syndrome 1 50
Breast-ovarian cancer, familial 4 50
Hurler syndrome 50
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 50
Somatotroph adenoma 50
Ceroid lipofuscinosis neuronal 2 49
Congenital secretory diarrhea, chloride type 49
Familial dysautonomia 49
Neuronal ceroid lipofuscinosis 5 49
Qualitative or quantitative defects of dysferlin 49
Retinitis pigmentosa 4 49
Salla disease 49
Autosomal recessive congenital ichthyosis 1 48
Congenital disorder of glycosylation 48
Familial hypertrophic cardiomyopathy 4 48
Lissencephaly 48
Multiple epiphyseal dysplasia type 4 48
Neuronal ceroid lipofuscinosis 48
Primary hyperoxaluria, type I 48
Spastic paraplegia 4, autosomal dominant 48
Achromatopsia 3 47
Autosomal recessive DOPA responsive dystonia 47
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 47
Mucopolysaccharidosis, MPS-III-A 47
Tubulinopathies 47
Hereditary hemorrhagic telangiectasia type 1 46
Laminin alpha 2-related dystrophy 46
Tuberous sclerosis 1 46
Adenoid cystic carcinoma 45
Aspartylglucosaminuria 45
Bardet-Biedl syndrome 2 45
Bifunctional peroxisomal enzyme deficiency 45
Hereditary spastic paraplegia 15 45
Spastic paraplegia 45
Von Willebrand disease, recessive form 45
Autosomal recessive limb-girdle muscular dystrophy type 2D 44
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 44
Leigh syndrome 44
Non-Hodgkin lymphoma 44
Seizures 44
von Willebrand disorder 44
Cobalamin C disease 43
Deficiency of butyrylcholine esterase 43
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 43
Glucose-6-phosphate transport defect 43
History of neurodevelopmental disorder 43
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 43
Cholestanol storage disease 42
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 42
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 42
Ehlers-Danlos syndrome, classic type 42
Global developmental delay 42
Inherited Immunodeficiency Diseases 42
Niemann-Pick disease, type B; Niemann-Pick disease, type A 42
Ornithine aminotransferase deficiency 42
Osteogenesis imperfecta type I 42
Peroxisome biogenesis disorder 1B 42
Severe combined immunodeficiency due to ADA deficiency 42
Carcinoma of colon 41
Charcot-Marie-Tooth disease type 4 41
Deficiency of butyryl-CoA dehydrogenase 41
Joubert syndrome; Meckel-Gruber syndrome 41
Lysinuric protein intolerance 41
Mental retardation, autosomal dominant 5 41
Ornithine carbamoyltransferase deficiency 41
Primary hyperoxaluria, type II 41
Retinoblastoma 41
Xeroderma pigmentosum, group C 41
Alkaptonuria 40
Autosomal recessive osteopetrosis 1 40
Ellis-van Creveld syndrome; Curry-Hall syndrome 40
Neuronal ceroid lipofuscinosis 8 40
Premature ovarian failure 40
beta Thalassemia 40
Congenital muscular hypertrophy-cerebral syndrome 39
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 39
Diastrophic dysplasia 39
Idiopathic nephrotic syndrome 39
Mucopolysaccharidosis type 1 39
Mucopolysaccharidosis, MPS-II 39
Multiple acyl-CoA dehydrogenase deficiency 39
Becker muscular dystrophy; Duchenne muscular dystrophy 38
Breast and/or ovarian cancer 38
Hereditary Paraganglioma-Pheochromocytoma Syndromes 38
Macular dystrophy 38
Rett syndrome 38
Severe X-linked myotubular myopathy 38
Xeroderma pigmentosum group A 38
Carnitine palmitoyltransferase 1A deficiency 37
Charcot-Marie-Tooth disease, type I 37
Early infantile epileptic encephalopathy 2 37
Holocarboxylase synthetase deficiency 37
Lissencephaly 3 37
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 37
Nephropathic cystinosis 37
Rhizomelic chondrodysplasia punctata type 1 37
Developmental and epileptic encephalopathy 94 36
Gorlin syndrome 36
Megalencephalic leukoencephalopathy with subcortical cysts 1 36
Pyknodysostosis 36
Retinitis pigmentosa 25 36
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 36
Familial X-linked hypophosphatemic vitamin D refractory rickets 35
Leber congenital amaurosis 8 35
Moyamoya angiopathy 35
Nephronophthisis 35
Nephrotic syndrome 35
Rare genetic intellectual disability 35
Early infantile epileptic encephalopathy 7 34
Early infantile epileptic encephalopathy 9 34
Hereditary factor IX deficiency disease 34
Neuroblastoma 34
Agenesis of the corpus callosum with peripheral neuropathy 33
Cardio-facio-cutaneous syndrome 33
Cockayne syndrome B 33
Early infantile epileptic encephalopathy 13 33
Fetal akinesia sequence; Arthrogryposis multiplex congenita 33
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 33
Maple syrup urine disease, type 3 33
Marfanoid habitus and intellectual disability 33
Mucopolysaccharidosis, MPS-III-C 33
Peutz-Jeghers syndrome 33
BH4-deficient hyperphenylalaninemia A 32
Congenital stationary night blindness 32
Lynch syndrome II 32
Meckel syndrome, type 3 32
Myelodysplastic syndrome 32
Nonsyndromic Oculocutaneous Albinism 32
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 32
Short rib-polydactyly syndrome, Majewski type 32
Aniridia 1 31
Deficiency of steroid 11-beta-monooxygenase 31
Dyskeratosis congenita, autosomal recessive, 5 31
Early infantile epileptic encephalopathy 11 31
GRACILE syndrome 31
Generalized juvenile polyposis/juvenile polyposis coli 31
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 31
Leber congenital amaurosis 13 31
Leber congenital amaurosis 2 31
Mucolipidosis type IV 31
Pheochromocytoma 31
Spastic paraplegia 11, autosomal recessive 31
Angelman syndrome 30
Baller-Gerold syndrome 30
Catecholaminergic polymorphic ventricular tachycardia type 1 30
Chronic myelogenous leukemia, BCR-ABL1 positive 30
Congenital cerebellar hypoplasia 30
Deafness, autosomal recessive 3 30
Epilepsy, focal, with speech disorder and with or without mental retardation 30
Familial hypokalemia-hypomagnesemia 30
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 30
Hereditary nonpolyposis colorectal cancer type 5 30
Intellectual disability, autosomal dominant 9 30
Long QT syndrome 2 30
Meckel syndrome type 6 30
Mitochondrial complex II deficiency; Paragangliomas 5 30
Mucopolysaccharidosis, MPS-IV-A 30
Pitt-Hopkins syndrome 30
Primary familial dilated cardiomyopathy 30
Rett syndrome, congenital variant 30
Arrhythmogenic right ventricular dysplasia 9 29
Coffin-Siris syndrome 1 29
Hypohidrotic X-linked ectodermal dysplasia 29
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 29
MPI-CDG 29
Oocyte maturation defect 2 29
Polycystic kidney disease 29
Vitelliform macular dystrophy type 2 29
Waardenburg syndrome type 1 29
Abnormal bleeding; Thrombocytopenia 28
Bardet-Biedl syndrome 12 28
Familial multiple polyposis syndrome 28
Macrothrombocytopenia 28
Maturity-onset diabetes of the young, type 3 28
Multiple congenital anomalies-hypotonia-seizures syndrome 1 28
Tyrosinase-positive oculocutaneous albinism 28
Arrhythmia 27
Cholestasis, intrahepatic, of pregnancy 3 27
Kleefstra syndrome 1 27
Multiple sulfatase deficiency 27
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 27
Nasopharyngeal Neoplasms 27
Neurodegeneration with brain iron accumulation 5 27
Alpha-1-antitrypsin deficiency 26
Cockayne syndrome type A 26
Congenital disorder of glycosylation type 1C 26
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 26
Fanconi anemia, complementation group J; Neoplasm of ovary 26
Infantile Refsum disease; Peroxisome biogenesis disorder 3A 26
Kabuki syndrome 2 26
Usher syndrome, type 1C; Deafness, autosomal recessive 18 26
Antithrombin III deficiency 25
Charcot-Marie-Tooth Neuropathy X 25
Deficiency of hydroxymethylglutaryl-CoA lyase 25
Glycogen storage disease type IXa1 25
Loeys-Dietz syndrome 25
Nemaline myopathy 3 25
Neurofibromatosis, type 2 25
Tumor susceptibility linked to germline BAP1 mutations 25
X-linked severe combined immunodeficiency 25
Abetalipoproteinaemia 24
Achondrogenesis, type IB 24
Alport syndrome 24
Amyotrophic lateral sclerosis type 1 24
Autosomal recessive limb-girdle muscular dystrophy type 2E 24
Central core myopathy 24
Congenital cataract 24
Gaucher disease type I 24
Hereditary nonpolyposis colorectal cancer type 4 24
Homozygous familial hypercholesterolemia 24
Mental retardation, X-linked 102 24
Mental retardation, autosomal dominant 7 24
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 24
Retinitis pigmentosa 12; Leber congenital amaurosis 8 24
Vitamin B12-responsive methylmalonic acidemia type cblB 24
Atelosteogenesis type II 23
Blepharophimosis, ptosis, and epicanthus inversus 23
Hereditary melanoma 23
Hereditary pancreatitis 23
KBG syndrome 23
Myoclonic-atonic epilepsy 23
Severe autosomal recessive muscular dystrophy of childhood - North African type 23
Zellweger syndrome 23
Achromatopsia 22
Bosch-Boonstra-Schaaf optic atrophy syndrome 22
Carcinoma of gallbladder 22
Carnitine palmitoyltransferase II deficiency, lethal neonatal 22
Dilated cardiomyopathy 1S 22
Epileptic encephalopathy, early infantile, 26 22
Factor VII deficiency 22
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 22
Familial platelet disorder with associated myeloid malignancy 22
Farber disease 22
Fukuyama congenital muscular dystrophy 22
Hemochromatosis type 4 22
Hermansky-Pudlak syndrome 22
Holt-Oram syndrome 22
Multiple fibrofolliculomas 22
Neonatal pseudo-hydrocephalic progeroid syndrome 22
Neoplasm of the thyroid gland 22
Non-immune hydrops fetalis 22
Periventricular nodular heterotopia 1 22
Pituitary hormone deficiency, combined 2 22
Wiedemann-Steiner syndrome 22
Arrhythmogenic right ventricular cardiomyopathy, type 10 21
Bainbridge-Ropers syndrome 21
Cholesterol monooxygenase (side-chain cleaving) deficiency 21
Congenital amegakaryocytic thrombocytopenia 21
Congenital contractural arachnodactyly 21
Early infantile epileptic encephalopathy 4 21
Familial focal epilepsy with variable foci 21
Kabuki syndrome 21
Leber congenital amaurosis 9 21
Mucolipidosis type III gamma 21
Rhabdoid tumor predisposition syndrome 2 21
Supravalvar aortic stenosis 21
Tracheoesophageal fistula 21
Amyloidogenic transthyretin amyloidosis 20
Arginase deficiency 20
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 20
Deficiency of galactokinase 20
Dilated cardiomyopathy 1A 20
Dyskeratosis congenita 20
Gaze palsy, familial horizontal, with progressive scoliosis 1 20
Hereditary spastic paraplegia 7 20
Hirschsprung disease 20
Leukoencephalopathy with vanishing white matter 20
Lissencephaly due to LIS1 mutation 20
Mitochondrial trifunctional protein deficiency; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 20
Nemaline myopathy 20
Seizures, benign familial infantile, 3 20
Vitamin B12-responsive methylmalonic acidemia type cblA 20
Beckwith-Wiedemann syndrome 19
Cardiac arrhythmia 19
Combined oxidative phosphorylation deficiency 14 19
Cornelia de Lange syndrome 5 19
Deafness, autosomal dominant 3a 19
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 19
Familial isolated deficiency of vitamin E 19
Heterotopia 19
Leber congenital amaurosis 2; Retinitis pigmentosa 20 19
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 19
Medullary thyroid carcinoma 19
Menkes kinky-hair syndrome 19
Multiple endocrine neoplasia, type 2a 19
Nonsyndromic hearing loss and deafness 19
Oguchi disease 2 19
Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 19
Primary autosomal recessive microcephaly 5 19
Robinow syndrome, autosomal recessive 19
Syndromic neurodevelopmental disorder 19
X-linked agammaglobulinemia 19
ZTTK syndrome 19
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 18
Brugada syndrome 1 18
Childhood-Onset Schizophrenia 18
Citrullinemia 18
Cleft lip with or without cleft palate 18
Congenital long QT syndrome 18
Cystinuria 18
Deafness, autosomal recessive 2 18
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 18
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 18
Episodic ataxia type 2 18
Familial hypocalciuric hypercalcemia 18
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 18
Juvenile polyposis syndrome 18
Juvenile retinoschisis 18
Li-Fraumeni syndrome 1 18
Limb-girdle muscular dystrophy, type 2J 18
Meckel syndrome type 1 18
Mental retardation, autosomal dominant 31 18
Myasthenic syndrome, congenital, 4a, slow-channel 18
Neurodevelopmental disorders 18
Neuronal ceroid lipofuscinosis 6 18
Neuronal ceroid lipofuscinosis 7 18
Obesity 18
Reduced protein C activity 18
Rubinstein-Taybi syndrome 2 18
Seizures; Intellectual disability 18
Severe combined immunodeficiency disease 18
Spastic paraplegia 30, autosomal recessive 18
Spinal muscular atrophy, distal, autosomal recessive, 1 18
3-methylcrotonyl CoA carboxylase 2 deficiency 17
Abnormal bleeding 17
Abnormality of the eye 17
Bare lymphocyte syndrome 2 17
Branchiooculofacial syndrome 17
Carcinoma 17
Chronic granulomatous disease, X-linked 17
Cornelia de Lange syndrome 3 17
Hereditary spastic paraplegia 3A 17
Iron accumulation in brain 17
Malignant hyperthermia, susceptibility to, 1 17
Meckel syndrome, type 4 17
Meckel-Gruber syndrome 17
Mowat-Wilson syndrome 17
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 17
Navajo neurohepatopathy 17
Noonan syndrome 1 17
Primary hyperoxaluria, type III 17
Protein S deficiency disease 17
Rod-cone dystrophy 17
Syndromic X-linked intellectual disability Turner type 17
Tyrosinase-negative oculocutaneous albinism 17
Alagille syndrome 1 16
Baraitser-Winter syndrome 1 16
Charcot-Marie-Tooth disease, type 2A2A 16
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 16
Combined malonic and methylmalonic aciduria 16
Congenital myopathy with fiber type disproportion 16
Cowden syndrome 1 16
Delayed puberty 16
Ehlers-Danlos syndrome, periodontal type, 2 16
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 16
Gaucher disease 16
Hereditary hemorrhagic telangiectasia 16
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 16
Hypobetalipoproteinemia, familial, 1 16
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 16
Multiple endocrine neoplasia, type 2b 16
Myopathy 16
Myopathy, proximal, and ophthalmoplegia 16
Nephrocalcinosis; Nephrolithiasis 16
Nephrogenic diabetes insipidus 16
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 16
Nicolaides-Baraitser syndrome 16
Usher syndrome, type 2C 16
Vici syndrome 16
3-Methylglutaconic aciduria type 2 15
Abnormality of coagulation 15
Benign familial neonatal seizures 1 15
Cerebral visual impairment and intellectual disability 15
Chondrodysplasia punctata 2 X-linked dominant 15
Ciliary dyskinesia, primary, 3 15
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 15
Epilepsy, familial focal, with variable foci 1 15
Epilepsy, familial focal, with variable foci 3 15
Generalized epilepsy with febrile seizures plus, type 2 15
Hereditary hemochromatosis 15
Hereditary insensitivity to pain with anhidrosis 15
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 15
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 15
Hypogonadotropic hypogonadism 7 with or without anosmia 15
Infantile-onset ascending hereditary spastic paralysis 15
Mental retardation and distinctive facial features with or without cardiac defects 15
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 15
Mental retardation with language impairment and with or without autistic features 15
Mental retardation, X-linked 1 15
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 15
Polycystic kidney disease 2 15
Pulmonary venoocclusive disease 2, autosomal recessive 15
Pyruvate carboxylase deficiency 15
Retinitis pigmentosa 11 15
Schimke immuno-osseous dysplasia 15
Sphingomyelin/cholesterol lipidosis 15
Thyroid dyshormonogenesis 6 15
Usher Syndrome, Type III 15
Waardenburg syndrome type 4C 15
Wolff-Parkinson-White pattern 15
3 Methylcrotonyl-CoA carboxylase 1 deficiency 14
ACTL6B-related recessive epilepsy 14
Ataxia-telangiectasia-like disorder 14
Atypical hemolytic uremic syndrome 14
Autism, susceptibility to, 18 14
Charcot-Marie-Tooth disease type 2P 14
Chromosome 2q32-q33 deletion syndrome 14
Cone-rod dystrophy 3 14
Deafness, X-linked 5 14
Dystrophinopathies 14
Epilepsy, hearing loss, and mental retardation syndrome 14
Epileptic encephalopathy, early infantile, 1 14
Factor V deficiency 14
Familial hemophagocytic lymphohistiocytosis 2 14
GNE myopathy; Sialuria 14
Gastrointestinal stromal tumor; Paragangliomas 3 14
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 14
Hypogonadotropic hypogonadism 2 with or without anosmia 14
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 14
Infantile epilepsy syndrome 14
Infantile neuroaxonal dystrophy 14
Loeys-Dietz syndrome 4 14
Maturity-onset diabetes of the young, type 1 14
Mental retardation, X-linked, syndromic 33 14
Microcephaly 14
Mulibrey nanism syndrome 14
Multiple endocrine neoplasia, type 4 14
Neurodevelopmental disorder with hypotonia, seizures, and absent language 14
Neurodevelopmental disorder with language impairment and behavioral abnormalities 14
Niemann-Pick disease, type C2 14
Pyridoxine-dependent epilepsy 14
Pyruvate dehydrogenase E1-alpha deficiency 14
Rapadilino syndrome 14
Sensorineural hearing loss 14
Short Rib Polydactyly Syndrome 14
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 14
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 14
Tyrosinemia type II 14
Walker-Warburg congenital muscular dystrophy 14
White-sutton syndrome 14
ALG1-CDG 13
Achromatopsia 2 13
Adams-Oliver syndrome 5 13
Asparagine synthetase deficiency 13
Astrocytoma 13
Autosomal dominant polycystic kidney disease 13
Bestrophinopathy, autosomal recessive 13
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 13
Cone dystrophy 13
Cone-rod dystrophy 13
Congenital hydrocephalus 13
Cowden syndrome 13
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 13
Eichsfeld type congenital muscular dystrophy 13
Endometrial neoplasm 13
Epilepsy, childhood absence 2; Familial febrile seizures 8 13
Epileptic encephalopathy, early infantile, 25 13
Epileptic encephalopathy, early infantile, 32 13
Fanconi anemia, complementation group J 13
Generalized epilepsy with febrile seizures plus, type 9 13
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 13
Hematologic neoplasm 13
Hyper-IgM syndrome type 1 13
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 13
Joubert syndrome 17 13
Lynch-like syndrome 13
Mental retardation, autosomal dominant 13 13
Mental retardation, autosomal dominant 23 13
Mitochondrial complex I deficiency 13
Moyamoya angiopathy with developmental delay 13
Neonatal diabetes mellitus 13
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 13
Platelet-type bleeding disorder 15 13
Pontocerebellar hypoplasia, type 7 13
Retinitis pigmentosa 1 13
Snijders blok-campeau syndrome 13
Spastic paraplegia 49, autosomal recessive 13
Waardenburg syndrome type 2A 13
Adenylosuccinate lyase deficiency 12
Albinism 12
Arrhythmogenic right ventricular cardiomyopathy, type 11 12
Ataxia-telangiectasia-like disorder 1 12
Autosomal recessive congenital ichthyosis 2 12
CDC42BPB-related neurodevelopmental syndrome 12
Camptomelic dysplasia 12
Carnitine palmitoyltransferase II deficiency 12
Chronic progressive multiple sclerosis 12
Citrin deficiency 12
Coenzyme Q10 deficiency, primary, 4 12
Coffin-Lowry syndrome 12
Common variable immunodeficiency 8, with autoimmunity 12
Craniofrontonasal syndrome 12
Deafness, autosomal recessive 77 12
Dystonia 28, childhood-onset 12
Early infantile epileptic encephalopathy 17 12
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 12
Epileptic encephalopathy, early infantile, 42 12
Familial Mediterranean fever 12
GLUT1 deficiency syndrome 1 12
Helsmoortel-Van der Aa Syndrome 12
Hirschsprung disease 1 12
Idiopathic basal ganglia calcification 1 12
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 12
Isolated sulfite oxidase deficiency 12
Lamb-shaffer syndrome 12
MYH9-related disorder 12
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 12
Mental retardation, syndromic, Claes-Jensen type, X-linked 12
Metastatic pancreatic neuroendocrine tumours 12
Microcephalic osteodysplastic primordial dwarfism type II 12
Mitochondrial trifunctional protein deficiency 12
Monogenic diabetes 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 12
NK-cell enteropathy 12
Neurodevelopmental disorder and language delay with or without structural brain abnormalities 12
O'Donnell-Luria-Rodan syndrome 12
PRPH2-Related Disorders 12
Primary autosomal recessive microcephaly 2 12
Retinitis pigmentosa 40 12
Retinitis pigmentosa 45 12
Spinocerebellar ataxia, autosomal recessive 8 12
Sponastrime dysplasia 12
Spondylocostal dysostosis 2, autosomal recessive 12
Three M syndrome 1 12
Wiedemann-Rautenstrauch-like progeroid syndrome 12
X-linked agammaglobulinemia with growth hormone deficiency 12
Abnormal platelet aggregation 11
Aicardi Goutieres syndrome 5 11
Alzheimer disease 11
Cerebral cavernous malformation 11
Charcot-Marie-Tooth Neuropathy X Type 1 11
Combined oxidative phosphorylation deficiency 10 11
Cone dystrophy 3 11
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 11
Dandy-Walker syndrome 11
Deficiency of aromatic-L-amino-acid decarboxylase 11
Developmental delay, intellectual disability, obesity, and dysmorphic features 11
Dilatation of ascending aorta; Bicuspid aortic valve 11
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 11
Epileptic encephalopathy, early infantile, 33 11
Familial aortopathy 11
Familial juvenile hyperuricemic nephropathy type 1 11
Frontotemporal dementia 11
Global developmental delay; Brain atrophy 11
Glycogen storage disease, type VII 11
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 11
Ichthyosis vulgaris 11
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 11
Joubert syndrome 1 11
Joubert syndrome 3 11
Joubert syndrome 6 11
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 11
Midaortic syndrome 11
Motor neuron disease 11
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 11
Multiple congenital exostosis 11
Muscular dystrophy 11
Neurodevelopmental abnormality 11
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 11
Noonan syndrome 3 11
Polycystic liver disease 11
Recessive dystrophic epidermolysis bullosa 11
Saldino-Mainzer syndrome 11
Sifrim-Hitz-Weiss syndrome 11
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 11
Spondylometaphyseal dysplasia 11
Type IV short rib polydactyly syndrome 11
von Willebrand disease type 1 11
Aganglionic megacolon 10
Aicardi Goutieres syndrome 1 10
Aicardi-Goutieres syndrome 6 10
Alpha thalassemia-X-linked intellectual disability syndrome 10
Amyotrophic lateral sclerosis 10
Autistic behavior; Moderate global developmental delay 10
Autosomal dominant optic atrophy classic form 10
Capillary malformation-arteriovenous malformation 2 10
Cardiomyopathy, left ventricular noncompaction 10
Cerebral creatine deficiency syndrome 10
Cholestasis, progressive familial intrahepatic 1 10
Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 10
Congenital disorder of deglycosylation 10
Congenital microvillous atrophy 10
Deafness, autosomal recessive 9 10
Distal arthrogryposis 10
Dystonia 12 10
Ehlers-Danlos syndrome dermatosparaxis type 10
Endplate acetylcholinesterase deficiency 10
Ethylmalonic encephalopathy 10
Familial hemophagocytic lymphohistiocytosis 3 10
Familial partial lipodystrophy 3 10
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease type 3C 10
Hemoglobinopathy 10
Hereditary leiomyomatosis and renal cell cancer 10
Hereditary spastic paraplegia 10
Hyperekplexia 1 10
Hypofibrinogenemia 10
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 10
Joubert syndrome 5 10
Leukodystrophy, hypomyelinating, 2 10
Long QT syndrome 3 10
Lymphoblastic leukemia, acute, with lymphomatous features 10
Lymphoma 10
MN1 C-terminal truncation (MCTT) syndrome 10
Mental retardation, autosomal dominant 14 10
Mental retardation, autosomal dominant 22 10
Nijmegen breakage syndrome-like disorder 10
Non-ketotic hyperglycinemia; Early infantile epileptic encephalopathy 9 10
Nonsyndromic cleft lip palate 10
Noonan syndrome; Cardio-facio-cutaneous syndrome 10
Paragangliomas 4 10
Patterned dystrophy of the retinal pigment epithelium 10
Pigmentary pallidal degeneration 10
Pigmentary retinal dystrophy 10
Polymicrogyria, asymmetric 10
Pontocerebellar hypoplasia type 6 10
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 10
Retinitis pigmentosa 26 10
STAG1-related disorder 10
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 10
Stickler syndrome type 1 10
Ullrich congenital muscular dystrophy 1 10
Upshaw-Schulman syndrome 10
Wiskott-Aldrich syndrome 10
Young-onset Parkinson disease 10
maculopathy 10
ABCA4-Related Disorders 9
AU-KLINE SYNDROME 9
Abnormal facial shape; Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Postnatal growth retardation; Neurodevelopmental abnormality 9
Acyl-CoA dehydrogenase family, member 9, deficiency of 9
Androgen resistance syndrome; Kennedy disease 9
Anterior segment dysgenesis 9
Arboleda-Tham syndrome 9
Autosomal recessive congenital ichthyosis 10 9
Benign familial hematuria 9
Beta-hydroxyisobutyryl-CoA deacylase deficiency 9
Cardiofaciocutaneous syndrome 1 9
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 9
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 9
Charcot-Marie-Tooth disease, type 4C 9
Ciliary dyskinesia, primary, 7 9
Cone-rod degeneration 9
Cone-rod dystrophy 13; Leber congenital amaurosis 6 9
Congenital anomalies of kidney and urinary tract 9
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 9
Congenital myasthenic syndrome 12 9
Cortical dysplasia, complex, with other brain malformations 5 9
Developmental and epileptic encephalopathy, 76 9
Diamond-Blackfan anemia 9
Dystonia 9
Early infantile epileptic encephalopathy 14 9
Elevated serum creatine phosphokinase 9
Endometrial carcinoma 9
Epilepsy 9
Epileptic encephalopathy, early infantile, 31 9
FGFR2 related craniosynostosis 9
Global developmental delay; Intellectual disability 9
Global developmental delay; Seizures 9
Heart, malformation of 9
Hermansky-Pudlak syndrome 1 9
Holoprosencephaly sequence 9
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 9
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9
Hyperphosphatasia with mental retardation syndrome 2 9
Intellectual disability, autosomal dominant 47 9
Kidney Carcinoma 9
Kleefstra syndrome 2 9
Leber congenital amaurosis 10 9
Limb-girdle muscular dystrophy, type 2L 9
Loeys-Dietz syndrome 3 9
MYH3-Related Disorders 9
Mental retardation, autosomal dominant 18 9
Mental retardation, autosomal dominant 44 9
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 9
Minicore myopathy with external ophthalmoplegia 9
Multiple congenital anomalies-hypotonia-seizures syndrome 2 9
Multiple endocrine neoplasia, type 2 9
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 9
Myofibrillar myopathy 1 9
Neoplasm of stomach 9
Neurodegeneration with brain iron accumulation 4 9
Okur-chung neurodevelopmental syndrome 9
Orofaciodigital syndrome I 9
Osteogenesis imperfecta type III 9
Parathyroid carcinoma 9
Perlman syndrome 9
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Hyperinsulinemic hypoglycemia, familial, 2 9
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 9
Phosphoglycerate dehydrogenase deficiency 9
Pierpont syndrome 9
Pitt-Hopkins-like syndrome 1 9
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 9
Posterior Predominant Lissencephaly 9
Primary autosomal recessive microcephaly 1 9
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 9
Retinitis pigmentosa 38 9
Rhabdomyolysis 9
Rhabdomyosarcoma (disease) 9
Robinow syndrome, autosomal dominant 2 9
SLC35A2-CDG 9
Seizures; hypotonia; Neurodevelopmental Disability 9
Spinocerebellar ataxia type 5 9
TET3 deficiency 9
Thrombophilia due to protein S deficiency, autosomal recessive 9
Thyroid hemiagenesis 9
Torsion dystonia 6 9
Visceral myopathy 9
Weaver syndrome 9
3-Methylglutaconic aciduria type 3 8
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 8
Abnormality of esophagus morphology 8
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 8
Acute megakaryoblastic leukemia in down syndrome 8
Age-related macular degeneration 2 8
Allan-Herndon-Dudley syndrome 8
Alveolar capillary dysplasia with pulmonary venous misalignment 8
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 8
Anophthalmia-microphthalmia syndrome 8
Aortic aneurysm, familial thoracic 7 8
Autistic behavior; Severe global developmental delay 8
Beaulieu-Boycott-Innes syndrome 8
Brain small vessel disease 1 with or without ocular anomalies 8
Capillary malformation-arteriovenous malformation 8
Cerebral arteriovenous malformation 8
Charcot-Marie-Tooth disease, axonal, type 2O 8
Common variable immunodeficiency 2 8
Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 8
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 8
Congenital hypothyroidism 8
Congenital lactase deficiency 8
Danon disease 8
Deafness, autosomal recessive 8 8
Deficiency of 2-methylbutyryl-CoA dehydrogenase 8
Developmental and epileptic encephalopathy, 65 8
Distal hereditary motor neuronopathy type 2B 8
Dyskeratosis congenita, autosomal dominant 1 8
Early infantile epileptic encephalopathy 10 8
Early infantile epileptic encephalopathy 5 8
Early infantile epileptic encephalopathy 8 8
Epilepsy, progressive myoclonic 3 8
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 8
Epileptic encephalopathy, early infantile, 23 8
Epileptic encephalopathy, early infantile, 43 8
Familial hemiplegic migraine type 3 8
Familial hyperinsulinism 8
Familial hypertrophic cardiomyopathy 10 8
Familial thoracic aortic aneurysm; Acute aortic dissection 8
Fraser syndrome 1 8
GLUT1 deficiency syndrome 1, autosomal recessive 8
Hereditary angioedema type 1 8
Hermansky-Pudlak syndrome 6 8
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type 8
Hypercholesterolaemia 8
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 8
Hypophosphatasia 8
Infantile onset spinocerebellar ataxia 8
Intellectual disability; Neurodevelopmental delay 8
Junctional epidermolysis bullosa 8
Kartagener syndrome 8
Keratoconus 1 8
Leber congenital amaurosis 6 8
Left ventricular noncompaction 10 8
Legius syndrome 8
Levy-Hollister syndrome 8
Loeys-Dietz syndrome 1 8
Lowe syndrome 8
Mandibulofacial dysostosis-microcephaly syndrome 8
Meckel syndrome, type 2 8
Meningioma, familial 8
Mental retardation, autosomal dominant 30 8
Microcephaly and chorioretinopathy, autosomal recessive, 1 8
Microphthalmia, isolated 5 8
Mitochondrial diseases 8
Mitochondrial myopathy, infantile, transient 8
Mucolipidosis type II 8
Mucopolysaccharidosis, MPS-IV-B 8
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 8
Myeloproliferative disorder 8
Nemaline myopathy 8 8
Non-obstructive azoospermia 8
Oligodontia-colorectal cancer syndrome 8
Opitz GBBB syndrome, type I 8
Osteodysplastic primordial dwarfism, type 1 8
Ovarian dysgenesis 1 8
Peroxisomal acyl-CoA oxidase deficiency