ClinVar Miner

Variants reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45778
Total variants unanimously reported as likely pathogenic: 31687

Breakdown by submitter #

Total submitters: 693
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Submitter Variants
GeneDx 8371
Counsyl 8157
Invitae 4591
Ambry Genetics 2466
CeGaT Praxis fuer Humangenetik Tuebingen 1472
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1343
Integrated Genetics/Laboratory Corporation of America 1282
Database of Curated Mutations (DoCM) 1114
NIHR Bioresource Rare Diseases, University of Cambridge 1077
Mendelics 1069
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 827
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 802
LDLR-LOVD, British Heart Foundation 789
Genetic Services Laboratory, University of Chicago 687
Blueprint Genetics 566
ISCA site 1 524
Quest Diagnostics Nichols Institute San Juan Capistrano 506
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 483
Baylor Genetics 476
Athena Diagnostics Inc 445
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 429
Center for Human Genetics, Inc 393
Center for Medical Genetics Ghent,University of Ghent 381
Color 381
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 378
Illumina Clinical Services Laboratory,Illumina 366
SIB Swiss Institute of Bioinformatics 345
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 334
Centre for Mendelian Genomics,University Medical Centre Ljubljana 315
Genomic Research Center, Shahid Beheshti University of Medical Sciences 313
Fulgent Genetics,Fulgent Genetics 309
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 290
Institute of Human Genetics,Klinikum rechts der Isar 285
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 279
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 230
PreventionGenetics,PreventionGenetics 229
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 217
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 206
University of Washington Center for Mendelian Genomics,University of Washington 203
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 197
Gharavi Laboratory,Columbia University 192
Stanford Center for Inherited Cardiovascular Disease, Stanford University 186
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 184
Molecular Diagnostics Laboratory, M Health: University of Minnesota 182
Sharon lab,Hadassah-Hebrew University Medical Center 176
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 173
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 166
Broad Institute Rare Disease Group,Broad Institute 161
UCLA Clinical Genomics Center, UCLA 152
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 141
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 140
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 135
Robarts Research Institute,Western University 130
NeuroMeGen,Hospital Clinico Santiago de Compostela 125
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 122
Hadassah Hebrew University Medical Center 121
Undiagnosed Diseases Network,NIH 114
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 110
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 105
Génétique des Maladies du Développement, Hospices Civils de Lyon 104
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 103
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 100
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 99
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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 94
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 92
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 91
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 83
Fundacion Hipercolesterolemia Familiar 77
ClinGen PAH Variant Curation Expert Panel 77
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 74
Center of Genomic medicine, Geneva,University Hospital of Geneva 73
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 71
Division of Human Genetics,Children's Hospital of Philadelphia 70
Department of Pathology and Laboratory Medicine,Sinai Health System 70
CHU Sainte-Justine Research Center,University of Montreal 68
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 68
GeneReviews 65
Department of Ophthalmology and Visual Sciences Kyoto University 65
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 62
Wessex Regional Genetics Laboratory,Salisbury District Hospital 61
Institute of Human Genetics,Cologne University 60
Department of Zoology Govt. MVM College 58
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 56
Knight Diagnostic Laboratories,Oregon Health and Sciences University 56
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 55
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 54
University of Washington Department of Laboratory Medicine, University of Washington 54
CSER _CC_NCGL, University of Washington 52
Institute of Human Genetics,University of Wuerzburg 52
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 50
GeneKor MSA 50
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 49
ISCA site 6 48
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 48
Sharing Clinical Reports Project (SCRP) 46
Laboratory of Molecular Genetics,CHU RENNES 45
Inserm U 954, Faculté de Médecine de Nancy 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
Center for Human Genetics,University of Leuven 41
Alexion Pharmaceuticals, Inc 39
Centre for Genomic and Experimental Medicine,University of Edinburgh 37
Iberoamerican FH Network 37
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 37
Genome Sciences Centre,British Columbia Cancer Agency 36
Department of Genetics,Sultan Qaboos University Hospital, Oman 36
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 34
Center for Genetic Medicine Research,Children's National Medical Center 33
Cirak Lab,University Hospital Cologne 33
Department of Molecular Diagnostics,Institute of Oncology 33
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 31
Medical Genetics, University of Parma 31
Johns Hopkins Genomics,Johns Hopkins University 31
Richard Lifton Laboratory, Yale University School of Medicine 30
Department of Medical Genetics,Oslo University Hospital 30
ClinGen PTEN Variant Curation Expert Panel 30
Institute of Human Genetics,University of Goettingen 29
Reproductive Health Research and Development,BGI Genomics 29
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 28
Inherited Neuropathy Consortium 28
Kariminejad - Najmabadi Pathology & Genetics Center 27
Neurogenetics Laboratory - MEYER,AOU Meyer 26
ClinGen CDH1 Variant Curation Expert Panel 26
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 26
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 25
SingHealth Duke-NUS Institute of Precision Medicine 25
Uitto Lab,Thomas Jefferson University 25
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 24
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 24
Academic Department of Medical Genetics, University of Cambridge 23
Wendy Chung Laboratory,Columbia University Medical Center 23
Section for Clinical Neurogenetics,University of Tübingen 23
Chan Lab,Boston Children's Hospital 22
Service de Génétique Moléculaire,Hôpital Robert Debré 22
Institute for Ophthalmic Research,University Tuebingen 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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 21
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 21
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 21
Medical Affairs,Enzyvant 21
Center for Human Disease Modeling,Duke University Medical Center 20
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 20
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 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
Laboratory of Metabolic Disorders, Peking University First Hospital 18
Clinical Genetics, Erasmus University Medical Center 18
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 18
TIDEX, University of British Columbia 18
GeneID Lab - Advanced Molecular Diagnostics 18
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 18
ClinGen Hearing Loss Variant Curation Expert Panel, 18
Genetic Diseases Diagnostic Center,Koc University Hospital 18
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 18
Eye Genetics Research Group,Children's Medical Research Institute 17
RettBASE 17
Medical Research Institute,Tokyo Medical and Dental University 17
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 17
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 17
ClinGen RASopathy Variant Curation Expert Panel 17
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 17
Genomic Medicine Lab, University of California San Francisco 17
Genetics Department,Polish Mother's Memorial Hospital Research Institute 17
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 16
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 16
Human Genetics - Radboudumc,Radboudumc 16
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 16
Tehran Medical Genetics Laboratory 16
Clinical Genomics Lab,St. Jude Children's Research Hospital 16
Human Genetics Group at Institute of Prion Diseases London,University College London 16
GenePathDx,Causeway Health Care Private Ltd 15
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 15
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 15
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 15
Hehr Laboratory,Center for Human Genetics - University of Regensburg 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
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 14
Raymond Lab,University of Cambridge 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
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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital 12
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 12
Center of Medical Genetics,Central South University 12
Klaassen Lab,Charite University Medicine Berlin 12
Biochemistry Laboratory of CDMU,Chengde Medical University 12
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 12
Pathway Genomics 11
Institute for Integrative and Experimental Genomics,University of Luebeck 11
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 11
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 11
Ocular Genomics Institute,Massachusetts Eye and Ear 11
Laboratory of Medical Genetics, University of Torino 11
Hematology laboratory,Robert Debré Hospital 11
Regeneron Genetics Center,Regeneron 11
Natera Inc 11
Genome Medicine,Institute for Basic Research in Developmental Disabilities 11
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 10
Kasturba Medical College,Manipal University 10
Genetics,Medical University of Vienna 10
New Leaf Center 10
Dan Cohn Lab,University Of California Los Angeles 10
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 10
Kids Research, The Children's Hospital at Westmead 10
AG Reprogenetics, University of Münster 10
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 10
Fondazione Telethon,Telethon Institute of Genetics and Medicine 10
Albrecht-Kossel-Institute,Medical University Rostock 9
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 9
Molecular Endocrinology Laboratory,Poznan University of Medical Sciences 9
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 9
Pediatric Genomics Discovery Program,Yale University 9
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 9
ClinGen TP53 Variant Curation Expert Panel,ClinGen 9
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 8
Division 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
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
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 8
Heart Center,Academic Medical Center Amsterdam 8
Santos-Cortez Lab,University of Colorado School of Medicine 8
Molecular Biology Laboratory,University of Basrah 8
ClinGen Myeloid Malignancy Variant Curation Expert Panel 8
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 7
Elahi Laboratory, University of Tehran 7
Northcott Neuroscience Laboratory, ANZAC Research Institute 7
Cytogenetics and Genomics Laboratory,University of Washington 7
National Institute of Mental Health and Neurosciences 7
Muenke lab,National Institutes of Health 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 7
Dash Lab,University Health Network 7
Dept. of Evolution and Genomic Sciences,University of Manchester 7
Paediatric Orthopaedics Research Lab,Christian Medical College 7
Molecular Genetics Laboratory; Baylor College of Medicine 6
ISCA site 14 6
GOLD service, Hunter New England Health 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
Centre of Medical Genetics, University of Antwerp 6
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 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
Genetics Department,University Hospital of Toulouse 6
Institute for Genomic Medicine, Nationwide Children's Hospital 6
Caldovic Lab,Children's National Health System 6
Dept. of Medical Genetics, Telemark Hospital Trust 6
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 6
Molecular Genetics Laboratory,University Hospital Copenhagen 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
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 5
SNPedia 5
George Lab Vanderbilt University 5
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 5
Laboratory of Prof. Karen Avraham,Tel Aviv University 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
Medical Molecular Genetics Department, National Research Center 5
Hereditary Hearing Loss Research Unit,University of Madras 5
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde,INSERM - Université Paul Sabatier 5
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 5
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 5
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 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
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 5
True Health Diagnostics 5
GeniaGeo, Laboratorio Genia 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
Centre de recherche St Antoine, Sorbonne Université, INSERM,Sorbonne University 5
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 5
The Center for Liver Diseases, Children’s Hospital of Fudan University 5
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 4
PXE International 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
Cytogenetics Laboratory,Banaras Hindu 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
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 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
Institute of Medical Genetics,University of Zurich 4
Computational Biology Unit,University of Bari 4
Epi4K Consortium 4
Department of Neurology,Taipei Veterans General Hospital 4
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 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
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 4
Department of Pediatric Endocrinology,Cukurova University Medical Faculty 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
Swedish Neurofibromatosis Center,Swedish Medical Center 4
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 3
Molecular Diagnostics Laboratory,Seoul National University Hospital 3
ISCA site 15 3
James Howe Lab,University of Iowa Hospital and Clinics 3
University of British Columbia 3
Department of Internal Medicine, University of Texas Health Science Center at Houston 3
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 3
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 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
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 3
Weber Lab,Hannover Medical School 3
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 3
Human Genetics Unit,University of Colombo 3
Daryl Scott Lab,Baylor College of Medicine 3
MVZ Praenatalmedizin und Genetik Nuernberg 3
Institute of Basic Medical Sciences,Khyber Medical University, Peshawar 3
Institute of Cellular and Molecular Medicine,Copenhagen University 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
Breda Genetics srl 3
Molecular Pathology and Genetics,King Abdulaziz Medical City, Ministry of National Guard - Health Affairs 3
Laboratorio de Genética,Hospital Universitario Clinico San Cecilio 3
OMIM 2
Gleeson Lab, University of California San Diego - Department of Neuroscience 2
Elsea Laboratory,Baylor College of Medicine 2
Michigan Medical Genetics Laboratories,University of Michigan 2
MVZ Dortmund,Dr. Eberhard & Partner 2
Institute for Genetics of Heart Diseases, University Hospital Muenster 2
PALB2 database 2
ITMI 2
Molecular Genetics and Enzymology, National Research Centre 2
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) 2
Genomics and Pathology Services,Washington University in St.Louis 2
Department of Breast and Endocrine Surgery,Kumamoto University 2
TilsonLab,Columbia University 2
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 2
U955 Equipe 11,INSERM 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center 2
Department of Hematology,University of Health Sciences 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
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 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
Diagnostic Laboratory,Strasbourg University Hospital 2
Clinics for Rare Diseases Referral (Hong Kong),The University of Hong Kong 2
Thoracic and Gastrointestinal Oncology Branch/CCR/NCI,NIH 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 2
Kamineni Academy of Medical Sciences & Research Centre,Kamineni Hospitals 2
The Genetics Institute,Rambam Health Care Campus 2
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 2
KK Women’s and Children’s Hospital 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2
Biotechnology Research Center,Pasteur Institute of Iran 2
UMR-S1161,Institut national de la santé et de la recherche médicale 2
Laboratoire de Génétique Moléculaire,CHU Bordeéaux 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
Medical Genetics Laboratory,Bambino Gesù Children's Hospital 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
Department of Human Genetics,University Hospital Magdeburg 2
Genetics Division,Universidade Federal de Sao Paulo 2
Degerman lab,Umeå University 2
Pediatric Metabolic Diseases,Hacettepe University 2
Department of Endocrinology,Sir Run Run Shaw Hospital 2
Medical Genetics Clinic,Mersin Women and Children Hospital 2
Department of Pathology and Genetics,University of Gothenburg 2
Precision Medicine Oncology,Rutgers Cancer Institute of New Jersey 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
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
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
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 2
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 2
Flatmark laboratory,Institute for Cancer Research, Oslo University Hospital 2
Institute for Human Genetics,University Hospital Essen 2
Division of Nephrology,Beth Israel Deaconess Medical Center 2
Molecular Pathology Laboratory,Cleveland Clinic 2
Genome Sciences and Precision Medicine Center,Medical College of Wisconsin 2
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 2
NxGen MDx 2
VIB - Center for Molecular Neurology,University of Antwerp 2
Clinical Genetics Branch,National Institutes of Health 2
Linda Baker Laboratory, UT Southwestern Medical Center 2
Biological Sciences,International Islamic University, Islamabad 2
Institute for Human Genetics,University Clinic Freiburg 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1
King Laboratory,University of Washington 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
Exeter Molecular Genetics Laboratory 1
MGZ Medical Genetics Center 1
SEALS Genetics Laboratory,South Eastern Area Laboratory Services, NSW Health Pathology 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 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
Department of Psychiatry,Nagoya University 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
Simons Lab, The University of Queensland 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
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
Center for Molecular Medicine, University Medical Center Utrecht 1
Dr. Faghihi's Medical Genetic Center 1
Gahl Group, Medical Genetics Branch, National Human Genome Research Institute,National Institutes of Health 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
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
National Institute on Deafness and Communication Disorders,National Institutes of Health 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
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 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
Laboratory of Molecular Genetics,National Institutes of Health 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 Statistical Genetics, Columbia University 1
Center for Genomic Medicine,Kyoto University Graduate School of Medicine 1
Department of Medical Genetics, National Institute of Health 1
Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 1
Medical Genetics,Meyer Children Hospital 1
Research Group Niklas Dahl,Uppsala University 1
Korbonits Lab,Queen Mary University of London 1
Biochimie Génétique et moléculaire,CHUGA 1
Neurology Department,Peking University First Hospital 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1
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
Molecular Medicine Center, Medical University of Sofia 1
Department of Animal Sciences,Quaid-i-Azam University 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
Columbia University Medical Center,Columbia University 1
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 1
Caglayan Lab,Istanbul Bilim University 1
Servicio Extremeño de Salud,Hospital de Mérida 1
Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu,Universidade Estadual Paulista 1
Molecular Medicine Research Center,University of Cyprus 1
Department of Medical Sciences,Uppsala University 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 1
Division of Genomics,Kyushu university 1
Barrett Group,Wellcome Trust Sanger Institute 1
School of Basic Medicine,Fourth Military Medical University 1
Genetics of Mitochondrial Diseases,Imagine Institute 1
Institute of Endocrinology, Diabetes & Metabolism,Max Healthcare Institute Ltd. 1
Human Molecular Genetics Laboratory,Federal University of Parana 1
Murat Gunel Laboratory,Yale University 1
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
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
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 1
University of Uludag Hospital, Genetic Diseases Diagnostic Center,University of Uludag 1
Department of Paediatric Medicine,Post Graduation Institute of Medical Education and Research 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 1
Pfaffle Lab, University Hospital for Children and Adolescents,University of Leipzig 1
Department of Medical Bioinformatics,Sinopath Diagnosis 1
Molecular Genetics Laboratory, Faculty of Medicine,Prince of Songkla University, Thailand 1
Guangdong Provincial Key Laboratory of South China Structural Heart Disease,Guangdong Cardiovascular Institute 1
Clinical Genetics Laboratory,Harran University 1
Center for Precision Medicine,Vanderbilt University Medical Center 1
Gill Bejerano Lab,Stanford University 1
The Danek Gertner Institute of Human Genetics,Sheba Medical Center 1
Magee Womens Research Institute,University of Pittsburgh Medical Center 1
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
Division of Human Genetics,Cincinnati Children's Hospital 1
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 1
Marseille Medical Genetics, U1251,Aix Marseille University, Inserm 1
Division of Genetic Medicine, Lausanne University Hospital 1
Genomics For Life 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 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
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
Coyote Medical Laboratory (Beijing),Coyote 1
Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital 1
Institute of Bioinformatics 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 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
Human Genetics Laboratory,State University of Rio de Janeiro 1
University of Iowa Renal Genetics Clinic,University of Iowa 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 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
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics,Sofia University, St. Kliment Ohridski 1
Clinical Research Group,BGI genomics 1
Department of Psychiatry and Medical Psychology,Medical University Pleven 1
Department of Pediatrics, Division of Medical Genetics,Faculty of Medicine Ramathibodi Hospital, Mahidol University 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 1
Belal Azab Laboratory,The University of Jordan 1
College of Medicine Research Centre,King Saud Univeristy 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
Cardiogenetic Laboratory,Instituto Murciano de Investigación Biosanitaria 1
Institute of Medical Genetics,ASUI Udine 1
Stankiewicz Research Laboratory,Baylor College of Medicine 1
Medical Genetics and Immunology,Urmia University of Medical sciences 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1
Genetic Diagnosis Center, Faculty of Medicine, Trakya University 1
Biochemistry Laboratory,Bechir Hamza Children's Hospital 1
Department of Biochemistry, Faculty of Medicine,University of Khartoum 1
Department of Medical Genetics,Hunan Provincial Maternal and Child Health Care Hospital 1
Fundacion Favaloro,PRICAI 1
Laboratory of Genetic Engineering, National Research Center for Hematology 1
Division of Human Genetics,University Cheikh Anta Diop 1
Pediatrics Genetics,Post Graduate Institute of Medical Education and Research 1
Center for Genetics and Inherited Diseases,Taibah University 1

Breakdown by condition #

Total conditions: 4294
Download table as spreadsheet
Condition Variants
not provided 13453
Hereditary cancer-predisposing syndrome 1889
Familial hypercholesterolemia 1 1023
See cases 759
Marfan syndrome 614
Inborn genetic diseases 529
Retinitis pigmentosa 438
Lung adenocarcinoma 388
Hereditary breast and ovarian cancer syndrome 369
Primary dilated cardiomyopathy 361
Adenocarcinoma of stomach 360
Ataxia-telangiectasia syndrome 353
Neoplasm of the large intestine 352
Lynch syndrome 335
Squamous cell carcinoma of the head and neck 335
Neoplasm of the breast 326
Familial cancer of breast 303
Cardiovascular phenotype 301
Neurofibromatosis, type 1 292
Cohen syndrome 288
Malignant neoplasm of body of uterus 287
Malignant melanoma of skin 279
Transitional cell carcinoma of the bladder 276
Squamous cell lung carcinoma 270
Hypertrophic cardiomyopathy 257
Hepatocellular carcinoma 255
Phenylketonuria 247
Rare genetic deafness 246
Autosomal recessive polycystic kidney disease 245
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 243
Pancreatic adenocarcinoma 242
not specified 241
Nemaline myopathy 2 240
Neoplasm of brain 236
Carcinoma of esophagus 227
Ovarian Serous Cystadenocarcinoma 225
Cystic fibrosis 223
Glioblastoma 223
Spastic ataxia Charlevoix-Saguenay type 214
Multiple myeloma 189
Adenocarcinoma of prostate 186
Wilson disease 182
Ovarian Neoplasms 178
Retinal dystrophy 178
Junctional epidermolysis bullosa gravis of Herlitz 175
Hereditary nonpolyposis colon cancer 174
Uterine Carcinosarcoma 174
Acute myeloid leukemia 167
Breast-ovarian cancer, familial 2 165
Non-ketotic hyperglycinemia 165
Finnish congenital nephrotic syndrome 157
Usher syndrome, type 2A; Retinitis pigmentosa 39 154
Glycogen storage disease, type II 139
Uterine cervical neoplasms 132
Alstrom syndrome 130
Stargardt disease 1 127
Fanconi anemia, complementation group A 126
Kabuki syndrome 1 126
Alport syndrome, autosomal recessive 122
Neoplasm 116
Niemann-Pick disease type C1 113
Breast-ovarian cancer, familial 1 112
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 110
Primary familial hypertrophic cardiomyopathy 109
Hyperinsulinemic hypoglycemia, familial, 1 108
Cardiomyopathy 107
Squamous cell carcinoma of the skin 107
Limb-girdle muscular dystrophy, type 2A 105
Pendred syndrome 105
Glycogen storage disease type III 104
Renal cell carcinoma, papillary, 1 104
Chronic lymphocytic leukemia 103
Maple syrup urine disease 102
Primary ciliary dyskinesia 100
Very long chain acyl-CoA dehydrogenase deficiency 100
Long QT syndrome 99
Intellectual disability 98
Small cell lung cancer 98
Bloom syndrome 96
Maturity-onset diabetes of the young, type 2 94
Peroxisome biogenesis disorder 1A (Zellweger) 93
Galactosylceramide beta-galactosidase deficiency 92
Limb-girdle muscular dystrophy, type 2B 91
Abnormality of brain morphology 90
Merosin deficient congenital muscular dystrophy 90
Arrhythmogenic right ventricular cardiomyopathy 89
Propionyl-CoA carboxylase deficiency 88
Dilated cardiomyopathy 1G 87
Ceroid lipofuscinosis neuronal 1 86
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 85
Ellis-van Creveld syndrome 85
Usher syndrome, type 1F 85
Mucopolysaccharidosis type VI 82
Cutaneous melanoma 81
Microcephaly, normal intelligence and immunodeficiency 81
Brainstem glioma 80
Thoracic aortic aneurysm and aortic dissection 80
Glutaric aciduria, type 1 79
Medulloblastoma 79
Smith-Lemli-Opitz syndrome 79
Muscle eye brain disease 78
Niemann-Pick disease, type A 78
Deafness, autosomal recessive 2; Usher syndrome, type 1 77
Duchenne muscular dystrophy 77
Early infantile epileptic encephalopathy 77
Juvenile neuronal ceroid lipofuscinosis 76
Medium-chain acyl-coenzyme A dehydrogenase deficiency 76
Hereditary factor XI deficiency disease 74
Metachromatic leukodystrophy 74
Short stature 74
Tay-Sachs disease 72
Homocystinuria due to CBS deficiency 70
Li-Fraumeni syndrome 70
Biotinidase deficiency 69
Epileptic encephalopathy 69
Renal carnitine transport defect 68
Fanconi anemia, complementation group C 67
Metaphyseal chondrodysplasia, McKusick type 67
PTEN hamartoma tumor syndrome 67
Adrenocortical carcinoma 66
Bardet-Biedl syndrome 10 66
Familial hypertrophic cardiomyopathy 1 66
Megaloblastic anemia due to inborn errors of metabolism 66
Deafness, autosomal recessive 1A 65
Familial adenomatous polyposis 1 65
Familial hypercholesterolemia 65
Noonan syndrome 63
Citrullinemia type I 61
Hereditary diffuse gastric cancer 61
Cornelia de Lange syndrome 1 60
Pulmonary arterial hypertension 59
Alport syndrome 1, X-linked recessive 58
Congenital disorder of glycosylation, type Ia 58
MYH-associated polyposis 58
Dihydropyrimidine dehydrogenase deficiency 57
Renal cysts and diabetes syndrome 57
Lysosomal acid lipase deficiency 56
Mucopolysaccharidosis, MPS-III-B 56
Non-small cell lung cancer 56
Ehlers-Danlos syndrome, type 4 55
Gastrointestinal stroma tumor 55
Infantile hypophosphatasia 55
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 54
Von Hippel-Lindau syndrome 54
Brugada syndrome 53
Deficiency of alpha-mannosidase 53
Glycogen storage disease, type V 52
Papillary renal cell carcinoma, sporadic 52
Rubinstein-Taybi syndrome 1 52
Tubulinopathies 52
Carnitine palmitoyltransferase II deficiency, infantile 51
Osteogenesis imperfecta 51
Progressive sclerosing poliodystrophy 51
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 50
Multiple endocrine neoplasia, type 1 50
Somatotroph adenoma 50
Thrombocytopenia 50
Bethlem myopathy 1 49
Congenital secretory diarrhea, chloride type 49
Deficiency of acetyl-CoA acetyltransferase 49
GNE myopathy 49
Bardet-Biedl syndrome 48
Ceroid lipofuscinosis neuronal 5 48
Fabry disease 48
Multiple epiphyseal dysplasia 4 48
Sjögren-Larsson syndrome 48
Alport syndrome 3, autosomal dominant 47
Congenital hyperammonemia, type I 47
Familial dysautonomia 47
Fanconi anemia 47
Hurler syndrome 47
Polyglandular autoimmune syndrome, type 1 47
Tyrosinemia type I 47
Usher syndrome 47
Autosomal recessive congenital ichthyosis 1 46
Ceroid lipofuscinosis neuronal 2 46
Tuberous sclerosis 2 46
Achromatopsia 3 45
Adenoid cystic carcinoma 45
Aspartylglucosaminuria 45
I cell disease; Pseudo-Hurler polydystrophy 45
Lynch syndrome I 45
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 45
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 44
Familial cancer of breast; Fanconi anemia, complementation group J 44
Familial hypertrophic cardiomyopathy 4 44
Non-Hodgkin lymphoma 44
Spongy degeneration of central nervous system 44
Stargardt disease 44
Bifunctional peroxisomal enzyme deficiency 43
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 43
Glycogen storage disease type 1A 43
Isovaleryl-CoA dehydrogenase deficiency 43
von Willebrand disorder 43
Deficiency of butyrylcholine esterase 42
History of neurodevelopmental disorder 42
Inherited Immunodeficiency Diseases 42
Peroxisome biogenesis disorder 1B 42
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 41
Leigh syndrome, French Canadian type 41
Lysinuric protein intolerance 41
Primary hyperoxaluria, type I 41
Spastic paraplegia 15 41
Xeroderma pigmentosum, group C 41
Ceroid lipofuscinosis neuronal 8 40
Leber congenital amaurosis 40
Long QT syndrome 1 40
Salla disease 40
Severe myoclonic epilepsy in infancy 40
Adrenoleukodystrophy 39
Bardet-Biedl syndrome 1 39
Charcot-Marie-Tooth disease, type 2 39
Diastrophic dysplasia 39
Limb-girdle muscular dystrophy, type 2D 39
Mucopolysaccharidosis, MPS-III-A 39
Macular dystrophy 38
Rasopathy 38
Usher syndrome, type 2A 38
Xeroderma pigmentosum, type 1 38
Deficiency of butyryl-CoA dehydrogenase 37
Primary hyperoxaluria, type II 37
Sotos syndrome 1 37
Fanconi anemia, complementation group O 36
Nephropathic cystinosis 36
Nephrotic syndrome, idiopathic, steroid-resistant 36
Osteopetrosis autosomal recessive 1 36
Rhizomelic chondrodysplasia punctata type 1 36
beta Thalassemia 36
Breast-ovarian cancer, familial 4 35
Congenital disorder of glycosylation 35
Glucose-6-phosphate transport defect 35
Methylmalonic acidemia with homocystinuria 35
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 35
Segawa syndrome, autosomal recessive 35
Hereditary factor VIII deficiency disease 34
Neuroblastoma 34
Ornithine aminotransferase deficiency 34
Polycystic kidney disease, adult type 34
Usher syndrome, type 1 34
Aniridia 1 33
Bardet-Biedl syndrome 2 33
Cardio-facio-cutaneous syndrome 33
Familial X-linked hypophosphatemic vitamin D refractory rickets 33
Fetal akinesia sequence; Arthrogryposis multiplex congenita 33
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 33
Marfanoid habitus and intellectual disability 33
Pyknodysostosis 33
Sandhoff disease 33
Andermann syndrome 32
Argininosuccinate lyase deficiency 32
Carnitine palmitoyltransferase I deficiency 32
Cholestanol storage disease 32
Congenital stationary night blindness 32
Hereditary factor IX deficiency disease 32
Neoplasm of ovary 32
Nonsyndromic Oculocutaneous Albinism 32
RYR1-Related Disorders 32
Catecholaminergic polymorphic ventricular tachycardia 31
Dyskeratosis congenita, autosomal recessive, 5 31
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 31
Meckel syndrome type 3 31
Myelodysplastic syndrome 31
Retinoblastoma 31
Rett syndrome 31
Chronic myelogenous leukemia 30
Congenital muscular hypertrophy-cerebral syndrome 30
Fumarase deficiency 30
GRACILE syndrome 30
Hereditary hemorrhagic telangiectasia type 1 30
Leigh syndrome 30
Severe combined immunodeficiency due to ADA deficiency 30
Alkaptonuria 29
CHARGE association 29
Early infantile epileptic encephalopathy 2 29
Ehlers-Danlos syndrome, classic type 29
Hereditary fructosuria 29
Pheochromocytoma 29
Seizures 29
Spastic paraplegia 4, autosomal dominant 29
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 28
Lynch syndrome II 28
Macrothrombocytopenia 28
Megalencephalic leukoencephalopathy with subcortical cysts 1 28
Bardet-Biedl syndrome 12 27
Charcot-Marie-Tooth disease 27
Cholestasis, intrahepatic, of pregnancy 3 27
Deficiency of steroid 11-beta-monooxygenase 27
Hereditary Paraganglioma-Pheochromocytoma Syndromes 27
Maturity-onset diabetes of the young, type 3 27
Nasopharyngeal Neoplasms 27
Fanconi anemia, complementation group J; Neoplasm of ovary 26
Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 26
Lissencephaly 3 26
Retinitis pigmentosa 39 26
Usher syndrome, type 1C; Deafness, autosomal recessive 18 26
Waardenburg syndrome type 1 26
Alpha-1-antitrypsin deficiency 25
Angelman syndrome 25
Autism spectrum disorder 25
Hereditary nonpolyposis colorectal cancer type 5 25
Osteogenesis imperfecta type I 25
Pitt-Hopkins syndrome 25
Tyrosinase-positive oculocutaneous albinism 25
Congenital cataract 24
Familial dilated cardiomyopathy 24
Juvenile polyposis syndrome 24
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 24
Peutz-Jeghers syndrome 24
Severe autosomal recessive muscular dystrophy of childhood - North African type 24
Tuberous sclerosis 1 24
Achondrogenesis, type IB 23
Atelosteogenesis type 2 23
Blepharophimosis, ptosis, and epicanthus inversus 23
Hypohidrotic X-linked ectodermal dysplasia 23
Loeys-Dietz syndrome 23
Maple syrup urine disease, type 3 23
Meckel syndrome type 6 23
Mucolipidosis type IV 23
Severe X-linked myotubular myopathy 23
Anauxetic dysplasia 22
Carcinoma of gallbladder 22
Familial hypercholesterolemia - homozygous 22
Farber disease 22
Fukuyama congenital muscular dystrophy 22
Glutaric aciduria, type 2 22
Hereditary hemorrhagic telangiectasia type 2 22
Holocarboxylase synthetase deficiency 22
Limb-girdle muscular dystrophy, type 2E 22
Neoplasm of the thyroid gland 22
Pituitary hormone deficiency, combined 2 22
Retinitis pigmentosa 25 22
6-pyruvoyl-tetrahydropterin synthase deficiency 21
Achromatopsia 21
Congenital disorder of glycosylation type 1B 21
Familial hypokalemia-hypomagnesemia 21
Hereditary nonpolyposis colorectal cancer type 4 21
Joubert syndrome 21
Long QT syndrome 2 21
Myopathy, Central Core 21
Reduced antithrombin III activity 21
Carnitine palmitoyltransferase II deficiency, lethal neonatal 20
Cholesterol monooxygenase (side-chain cleaving) deficiency 20
Congenital disorder of glycosylation type 1C 20
Dilated cardiomyopathy 1S 20
Early infantile epileptic encephalopathy 7 20
Early infantile epileptic encephalopathy 9 20
Enlarged vestibular aqueduct 20
Gorlin syndrome 20
Hermansky-Pudlak syndrome 20
Hirschsprung disease 20
Mucopolysaccharidosis, MPS-III-C 20
Neurodegeneration with brain iron accumulation 5 20
Ornithine carbamoyltransferase deficiency 20
Periventricular nodular heterotopia 1 20
Tumor susceptibility linked to germline BAP1 mutations 20
Ataxia with vitamin E deficiency 19
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 19
Catecholaminergic polymorphic ventricular tachycardia type 1 19
Deafness, autosomal recessive 2 19
Early infantile epileptic encephalopathy 13 19
Familial hypocalciuric hypercalcemia 19
Heterotopia 19
Medullary thyroid carcinoma 19
Methylmalonic aciduria cblB type 19
Mucolipidosis III Gamma 19
Nemaline myopathy 3 19
Neurodevelopmental disorder 19
Neuronal ceroid lipofuscinosis 19
Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 19
Vitelliform macular dystrophy type 2 19
Werner syndrome 19
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 18
Breast and/or ovarian cancer 18
Charcot-Marie-Tooth disease type 4 18
Childhood-Onset Schizophrenia 18
Cockayne syndrome type A 18
Deafness, autosomal dominant 3a 18
Deafness, autosomal recessive 3 18
Early infantile epileptic encephalopathy 11 18
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 18
Glanzmann thrombasthenia 18
Jeune thoracic dystrophy 18
Mental retardation, autosomal dominant 9 18
Multiple endocrine neoplasia, type 2a 18
Reduced protein C activity 18
Rett syndrome, congenital variant 18
Short-rib thoracic dysplasia 3 with or without polydactyly 18
Spastic paraplegia 18
Abnormal bleeding 17
Abnormality of the eye 17
Arginase deficiency 17
Carcinoma 17
Ceroid lipofuscinosis neuronal 6 17
Charcot-Marie-Tooth disease, type I 17
Combined oxidative phosphorylation deficiency 14 17
Factor VII deficiency 17
Gaucher's disease, type 1 17
Glycogen storage disease type IXa1 17
Iron accumulation in brain 17
Lissencephaly 1 17
Meckel syndrome type 1 17
Menkes kinky-hair syndrome 17
Mental retardation, X-linked, syndromic, Turner type 17
Mental retardation, autosomal dominant 5 17
Neurofibromatosis, type 2 17
Reduced protein S activity 17
Severe combined immunodeficiency disease 17
ZTTK syndrome 17
Baller-Gerold syndrome 16
Benign familial neonatal-infantile seizures 16
Congenital long QT syndrome 16
Cornelia de Lange syndrome 3 16
Cornelia de Lange syndrome 5 16
Delayed puberty 16
Ehlers-Danlos syndrome, periodontal type, 2 16
Hereditary cutaneous melanoma 16
Hereditary pancreatitis 16
Holt-Oram syndrome 16
Leber congenital amaurosis 1 16
Meckel-Gruber syndrome 16
Methylmalonic aciduria cblA type 16
Navajo neurohepatopathy 16
Nephrocalcinosis; Nephrolithiasis 16
Spastic paraplegia 11, autosomal recessive 16
Spinal muscular atrophy, distal, autosomal recessive, 1 16
Wiedemann-Steiner syndrome 16
X-linked agammaglobulinemia 16
Abnormality of coagulation 15
Arrhythmogenic right ventricular cardiomyopathy, type 9 15
Bosch-Boonstra-Schaaf optic atrophy syndrome 15
Cerebral visual impairment and intellectual disability 15
Chondrodysplasia punctata 2 X-linked dominant 15
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 15
Coffin-Siris syndrome 1 15
Congenital contractural arachnodactyly 15
Deficiency of hydroxymethylglutaryl-CoA lyase 15
Dilated cardiomyopathy 15
Dysferlinopathy 15
Dyskeratosis congenita 15
Epilepsy, focal, with speech disorder and with or without mental retardation 15
Kabuki syndrome 2 15
Laminin alpha 2-related dystrophy 15
Multiple endocrine neoplasia, type 2b 15
Multiple fibrofolliculomas 15
Myoclonic-atonic epilepsy 15
Neonatal pseudo-hydrocephalic progeroid syndrome 15
Nephrogenic diabetes insipidus 15
Non-immune hydrops fetalis 15
Primary hyperoxaluria, type III 15
Spastic paraplegia 7 15
Tyrosinase-negative oculocutaneous albinism 15
Usher syndrome, type 3A 15
Wolff-Parkinson-White pattern 15
ACTL6B-related recessive epilepsy 14
Charcot-Marie-Tooth Neuropathy X 14
Charcot-Marie-Tooth disease, type 2A2A 14
Deafness, X-linked 5 14
Epilepsy, familial focal, with variable foci 1 14
Epileptic encephalopathy, childhood-onset 14
Episodic ataxia type 2 14
Familial Mediterranean fever 14
Familial adenomatous polyposis 14
Hypogonadotropic hypogonadism 7 with or without anosmia 14
Leber congenital amaurosis 13 14
Limb-girdle muscular dystrophy, type 2J 14
Meckel syndrome type 4 14
Mitochondrial complex I deficiency 14
Mitochondrial complex II deficiency; Paragangliomas 5 14
Mucopolysaccharidosis, MPS-II 14
Multiple endocrine neoplasia, type 4 14
Muscular Diseases 14
Pulmonary venoocclusive disease 2, autosomal recessive 14
Short Rib Polydactyly Syndrome 14
Tyrosinemia type 2 14
Vici syndrome 14
Astrocytoma 13
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 13
Cone/cone-rod dystrophy 13
Congenital hydrocephalus 13
Deficiency of galactokinase 13
Endometrial neoplasm 13
Factor V deficiency 13
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 13
Hematologic neoplasm 13
Infantile neuroaxonal dystrophy 13
Li-Fraumeni syndrome 1 13
Maturity-onset diabetes of the young, type 1 13
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 13
Mental retardation, X-linked 102 13
Mucopolysaccharidosis, MPS-IV-A 13
Mulibrey nanism syndrome 13
Multiple congenital anomalies-hypotonia-seizures syndrome 1 13
Nemaline myopathy 13
Neonatal diabetes mellitus 13
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 13
Rubinstein-Taybi syndrome 2 13
Usher syndrome, type 2C 13
Waardenburg syndrome type 4C 13
X-linked severe combined immunodeficiency 13
Ataxia-telangiectasia-like disorder 1 12
Beckwith-Wiedemann syndrome 12
Benign familial neonatal seizures 1 12
CDC42BPB-related neurodevelopmental syndrome 12
Chronic progressive multiple sclerosis 12
Early infantile epileptic encephalopathy 4 12
Familial hypoplastic, glomerulocystic kidney 12
Familial platelet disorder with associated myeloid malignancy 12
Fanconi anemia, complementation group J 12
Kabuki syndrome 12
MYH9-related disorder 12
Malignant hyperthermia, susceptibility to, 1 12
Mental retardation, X-linked, syndromic 33 12
Mental retardation, autosomal dominant 31 12
Mental retardation, autosomal dominant 7 12
Metastatic pancreatic neuroendocrine tumours 12
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 12
Muscular dystrophy 12
Natural killer cell enteropathy 12
Obesity 12
Platelet-type bleeding disorder 15 12
Pontocerebellar hypoplasia, type 7 12
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 12
Rapadilino syndrome 12
Spondylocostal dysostosis 2 12
3-Methylglutaconic aciduria type 2 11
Abnormal platelet aggregation 11
Alzheimer disease 11
Amyloidogenic transthyretin amyloidosis 11
Brugada syndrome 1 11
Ciliary dyskinesia, primary, 3 11
Coenzyme Q10 deficiency, primary, 4 11
Cone-rod dystrophy 11
Congenital disorder of glycosylation type 1K 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
Global developmental delay; Brain atrophy 11
Hirschsprung disease 1 11
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 11
Hypobetalipoproteinemia, familial, 1 11
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 11
Idiopathic basal ganglia calcification 1 11
Joubert syndrome 1 11
KBG syndrome 11
Mental retardation, autosomal dominant 6 11
Midaortic syndrome 11
Motor neuron disease 11
Mowat-Wilson syndrome 11
NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES 11
Nicolaides-Baraitser syndrome 11
Noonan syndrome 1 11
Polycystic liver disease 11
Primary autosomal recessive microcephaly 5 11
Pyruvate dehydrogenase E1-alpha deficiency 11
Spastic paraplegia 3 11
Spondylometaphyseal dysplasia 11
Adams-Oliver syndrome 5 10
Aicardi-Goutieres syndrome 6 10
Autosomal recessive congenital ichthyosis 2 10
Chronic granulomatous disease, X-linked 10
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 10
Cowden syndrome 1 10
Cystinuria 10
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 10
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 10
Dystonia 28, childhood-onset 10
Epileptic encephalopathy, early infantile, 26 10
Gray platelet syndrome 10
Hypofibrinogenemia 10
Inclusion body myopathy 3 10
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 10
Left ventricular noncompaction cardiomyopathy 10
Limb-girdle muscular dystrophy, type 2L 10
Loeys-Dietz syndrome 4 10
Lymphoblastic leukemia, acute, with lymphomatous features 10
Lymphoma 10
MUTYH-associated polyposis 10
Mental retardation, autosomal dominant 23 10
Mental retardation, syndromic, Claes-Jensen type, X-linked 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 10
Myofibrillar myopathy 1 10
Nonsyndromic cleft lip palate 10
Noonan syndrome 3 10
Noonan syndrome; Cardio-facio-cutaneous syndrome 10
Polycystic kidney disease 2 10
Pseudoxanthoma elasticum 10
Pyruvate carboxylase deficiency 10
SNIJDERS BLOK-CAMPEAU SYNDROME 10
STAG1-related disorder 10
Seizures; Intellectual disability 10
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 10
Upshaw-Schulman syndrome 10
Waardenburg syndrome type 2A 10
maculopathy 10
ABCA4-Related Disorders 9
Albinism 9
Arrhythmogenic right ventricular cardiomyopathy, type 10 9
Asparagine synthetase deficiency 9
Autism, susceptibility to, 18 9
Autistic behavior; Moderate global developmental delay 9
Autosomal recessive congenital ichthyosis 10 9
Baraitser-Winter syndrome 1 9
Branchiooculofacial syndrome 9
Capillary malformation-arteriovenous malformation 2 9
Cone-rod degeneration 9
Cone-rod dystrophy 3 9
Dilated cardiomyopathy 1A 9
Dystonia 9
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 9
Early infantile epileptic encephalopathy 17 9
Epileptic encephalopathy, early infantile, 1 9
Epileptic encephalopathy, early infantile, 25 9
Frontotemporal dementia 9
Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease type 3C 9
Hemophagocytic lymphohistiocytosis, familial, 2 9
Hereditary insensitivity to pain with anhidrosis 9
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 9
Hereditary spastic paraplegia 9
Holoprosencephaly sequence 9
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 9
Hyperekplexia 1 9
Immunodeficiency with hyper IgM type 1 9
Joubert syndrome 6 9
Kidney Carcinoma 9
Kleefstra syndrome 1 9
Long QT syndrome 3 9
Mucopolysaccharidosis type I 9
Multiple cutaneous leiomyomas 9
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 9
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 9
Niemann-Pick disease type C2 9
Niemann-Pick disease, type B; Niemann-Pick disease, type A 9
Nijmegen breakage syndrome-like disorder 9
Osteogenesis imperfecta type III 9
Paragangliomas 4 9
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia 9
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 9
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 9
Rhabdomyolysis 9
Seizures; hypotonia; Neurodevelopmental Disability 9
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 9
Stickler syndrome type 1 9
Thyroid dyshormonogenesis 6 9
Thyroid hemiagenesis 9
White-sutton syndrome 9
3-Methylglutaconic aciduria type 3 8
Abnormality of esophagus morphology 8
Aortic aneurysm, familial thoracic 7 8
Atypical hemolytic uremic syndrome 8
Beaulieu-Boycott-Innes syndrome 8
Carcinoma of colon 8
Cardiofaciocutaneous syndrome 1 8
Cerebral arteriovenous malformation 8
Cerebral cavernous malformation 8
Charcot-Marie-Tooth disease, type 4C 8
Cholestasis, progressive familial intrahepatic 1 8
Coffin-Lowry syndrome 8
Congenital disorder of deglycosylation 8
Deafness, autosomal recessive 9 8
Elevated serum creatine phosphokinase 8
Ellis-van Creveld syndrome; Curry-Hall syndrome 8
Endplate acetylcholinesterase deficiency 8
Epilepsy, childhood absence 2; Familial febrile seizures 8 8
Epilepsy, progressive myoclonic 3 8
Esophageal atresia; Pyloric stenosis 8
Familial thoracic aortic aneurysm; Acute aortic dissection 8
Gaucher disease 8
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 8
Hemophagocytic lymphohistiocytosis, familial, 3 8
Juvenile retinoschisis 8
Keratoconus 1 8
Levy-Hollister syndrome 8
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 8
Meckel syndrome type 2 8
Mental retardation, autosomal dominant 13 8
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 8
Mitochondrial myopathy, infantile, transient 8
Multiple congenital exostosis 8
Myasthenic syndrome, congenital, 4a, slow-channel 8
Myeloproliferative disorder 8
Neoplasm of stomach 8
Nephronophthisis 8
Orofaciodigital syndrome I 8
Pontocerebellar hypoplasia type 6 8
Primary autosomal recessive microcephaly 2 8
Recessive dystrophic epidermolysis bullosa 8
Retinitis pigmentosa 38 8
Rhabdoid tumor predisposition syndrome 2 8
Robinow syndrome, autosomal dominant 2 8
Sensorineural hearing loss 8
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 8
Supravalvar aortic stenosis 8
Three M syndrome 1 8
Von Willebrand disease, recessive form 8
Weaver syndrome 8
3 Methylcrotonyl-CoA carboxylase 1 deficiency 7
3-methylcrotonyl CoA carboxylase 2 deficiency 7
AU-KLINE SYNDROME 7
Acute megakaryoblastic leukemia 7
Adenylosuccinate lyase deficiency 7
Aicardi Goutieres syndrome 1 7
Autosomal recessive congenital ichthyosis 4B 7
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE 7
Bestrophinopathy, autosomal recessive 7
Bladder carcinoma 7
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 7
Cardiac arrhythmia 7
Carnitine palmitoyltransferase II deficiency 7
Charcot-Marie-Tooth disease type 2P 7
Charcot-Marie-Tooth disease, axonal, type 2O 7
Cockayne syndrome B 7
Common variable immunodeficiency 8, with autoimmunity 7
Congenital amegakaryocytic thrombocytopenia 7
Congenital lactase deficiency 7
Deafness, autosomal recessive 16 7
Deafness, autosomal recessive 18 7
Dystonia 12 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 7
Early infantile epileptic encephalopathy 14 7
Epilepsy, hearing loss, and mental retardation syndrome 7
Epileptic encephalopathy, early infantile, 33 7
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 7
Ethylmalonic encephalopathy 7
Factor X deficiency 7
Familial hyperinsulinism 7
Familial hypertrophic cardiomyopathy 10 7
Familial multiple polyposis syndrome 7
Familial partial lipodystrophy 3 7
GLUT1 deficiency syndrome 1 7
GNE myopathy; Sialuria 7
Gastrointestinal stroma tumor; Paragangliomas 3 7
Global developmental delay; Seizures 7
Heart, malformation of 7
Hemolytic anemia 7
Hypercholesterolaemia 7
Ichthyosis vulgaris 7
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 7
Intellectual disability; Neurodevelopmental delay 7
Intellectual functioning disability 7
Joubert syndrome 17 7
Joubert syndrome 3 7
Kartagener syndrome 7
Lamb-shaffer syndrome 7
Leukoencephalopathy with vanishing white matter 7
Mental retardation and distinctive facial features with or without cardiac defects 7
Mental retardation with language impairment and with or without autistic features 7
Microcephaly 7
Monogenic diabetes 7
Moyamoya disease 2 7
Mucopolysaccharidosis, MPS-IV-B 7
Multiple sulfatase deficiency 7
Nemaline myopathy 8 7
Nonsyndromic hearing loss and deafness 7
Noonan syndrome and Noonan-related syndrome 7
Perrault syndrome 2 7
Polymicrogyria, asymmetric 7
Primary autosomal recessive microcephaly 9 7
Pulmonary arterial hypertension associated with congenital heart disease 7
Pyridoxine-dependent epilepsy 7
Severe intellectual deficiency 7
Spastic paraplegia 35 7
Spherocytosis type 2 7
Sulfite oxidase deficiency 7
Ullrich congenital muscular dystrophy 1 7
Visceral myopathy 7
Walker-Warburg congenital muscular dystrophy 7
X-linked hereditary motor and sensory neuropathy 7
microform holoprosencephaly 7
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 6
ATR-X syndrome 6
Allan-Herndon-Dudley syndrome 6
Amyotrophic lateral sclerosis type 1 6
Autistic behavior; Severe global developmental delay 6
Autistic disorder of childhood onset 6
Axenfeld-Rieger syndrome type 3 6
BAKER-GORDON SYNDROME 6
Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 6
CHUNG-JANSEN SYNDROME 6
Carney triad 6
Ceroid lipofuscinosis neuronal 7 6
Charcot-Marie-Tooth disease type 2C 6
Charcot-Marie-Tooth disease type 2F 6
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 6
Chromosome 2q32-q33 deletion syndrome 6
Combined oxidative phosphorylation deficiency 10 6
Congenital bilateral aplasia of vas deferens from CFTR mutation 6
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 6
Congenital microvillous atrophy 6
Congenital muscular dystrophy, LMNA-related 6
Congenital myasthenic syndrome 6
Congenital stationary night blindness, type 1C 6
Cortical dysplasia, complex, with other brain malformations 5 6
Costello syndrome 6
Craniofrontonasal dysplasia 6
Cystine urolithiasis 6
Cystinosis, ocular nonnephropathic; Juvenile nephropathic cystinosis; Nephropathic cystinosis 6
Danon disease 6
Deafness, autosomal recessive 77 6
Deficiency of aromatic-L-amino-acid decarboxylase 6
Dilated cardiomyopathy 1HH 6
Dilated cardiomyopathy 1L; Limb-girdle muscular dystrophy, type 2F 6
Distal arthrogryposis type 5D 6
Distal hereditary motor neuronopathy type 2B 6
Dyskinesia, familial, with facial myokymia 6
Eichsfeld type congenital muscular dystrophy 6
Epileptic encephalopathy, early infantile, 31 6
Familial aortopathy 6
Familial exudative vitreoretinopathy 6
Familial hemiplegic migraine 6
Familial hypertrophic cardiomyopathy 2 6
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 6
Flexion contracture 6
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 6
Generalized epilepsy with febrile seizures plus, type 2 6
Global developmental delay 6
Global developmental delay; Intellectual disability 6
HYPERPARATHYROIDISM, TRANSIENT NEONATAL 6
Head and Neck Neoplasms 6
Hereditary hemorrhagic telangiectasia 6
Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Primary immunodeficiency 6
Homocysteinemia due to MTHFR deficiency 6
Infantile GM1 gangliosidosis 6
Islet cell hyperplasia 6
Joubert syndrome 2 6
Joubert syndrome 2; Meckel syndrome type 2 6
Joubert syndrome 5 6
Kallmann syndrome 2 6
Kleefstra syndrome 2 6
Left ventricular noncompaction 6
Left ventricular noncompaction 10 6
Lung cancer 6
Meier-gorlin syndrome 7 6
Mental retardation, X-linked 1 6
Mental retardation, autosomal dominant 16 6
Mental retardation, autosomal dominant 22 6
Mental retardation, autosomal dominant 26 6
Mitochondrial diseases 6
Mitochondrial trifunctional protein deficiency 6
Multiple congenital anomalies-hypotonia-seizures syndrome 2 6
Multiple endocrine neoplasia, type 2 6
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 6
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 6
Myoclonic dystonia 6
N-terminal acetyltransferase deficiency 6
Neural tube defect 6
Neurodegeneration with brain iron accumulation 4 6
Neuromuscular Diseases 6
Non-obstructive azoospermia 6
Optic atrophy; Childhood Onset Dystonias 6
Ovarian dysgenesis 1 6
Paragangliomas 5 6
Parathyroid carcinoma 6
Parkinson disease 2 6
Pelizaeus-Merzbacher disease 6
Pierpont syndrome 6
Pigmentary pallidal degeneration 6
Platelet glycoprotein IV deficiency 6
Primary ciliary dyskinesia 23 6
Protoporphyria, erythropoietic, 1 6
Renal tubular acidosis, distal, autosomal recessive 6
Restrictive cardiomyopathy 6
Retinitis pigmentosa 4 6
Retinoschisis 6
Shprintzen-Goldberg syndrome 6
Skin and Hair Hypopigmentation 6
Spastic paraplegia 31, autosomal dominant 6
Spinocerebellar ataxia 14 6
Spinocerebellar ataxia 5 6
Spinocerebellar ataxia, autosomal recessive 8 6
Tatton-Brown-rahman syndrome 6
Unverricht-Lundborg syndrome 6
Usher syndrome type 2 6
Wiskott-Aldrich syndrome 6
von Willebrand disease type 1 6
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 5
46,XY sex reversal, type 3 5
Aarskog syndrome 5
Abnormal aortic valve physiology 5
Achromatopsia 2 5
Achromatopsia 4 5
Aicardi Goutieres syndrome 2 5
Aicardi Goutieres syndrome 5 5
Alagille syndrome 1 5
Alternating hemiplegia of childhood 2 5
Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 5
Atypical Rett syndrome 5
Autosomal recessive centronuclear myopathy 5
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome; Autosomal dominant hypohidrotic ectodermal dysplasia 5
Autosomal recessive hypophosphatemic bone disease 5
Bainbridge-Ropers syndrome 5
Bare lymphocyte syndrome 2 5
Beta-hydroxyisobutyryl-CoA deacylase deficiency 5
Breast cancer, susceptibility to 5
CHEK2-Related Cancer Susceptibility 5
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 5
Capillary malformation-arteriovenous malformation 1 5
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 5
Charcot-Marie-Tooth disease, axonal, type 2S 5
Charcot-Marie-Tooth disease, dominant intermediate B 5
Charcot-Marie-Tooth disease, type 4A 5
Chédiak-Higashi syndrome 5
Coenzyme Q10 deficiency, primary, 7 5
Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 5
Congenital adrenal hyperplasia 5
Congenital contractures of the limbs and face, hypotonia, and developmental delay 5
Congenital muscular dystrophy 5
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 5
Congenital myasthenic syndrome 12 5
Connective tissue disorder 5
Cowden syndrome 5
Craniopharyngioma 5
Cutis laxa-corneal clouding-oligophrenia syndrome 5
Deafness, autosomal recessive 12 5
Deep venous thrombosis 5
Diamond-Blackfan anemia 5
Distal arthrogryposis 5
Dominant hereditary optic atrophy 5
Dystonia 6, torsion 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 5
Early infantile epileptic encephalopathy 8 5
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 5
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 5
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 5
Epidermolysis bullosa, junctional 5
Epilepsy 5
Epilepsy, progressive myoclonic 7 5
Epileptic encephalopathy, early infantile, 54 5
Factor XIII subunit A deficiency 5
Familial cardiomyopathy 5
Fanconi anemia, complementation group D2 5
Galloway-Mowat syndrome 1 5
Genetic motor neuron disease 5
Global developmental delay; Failure to thrive 5
Gorlin syndrome; Medulloblastoma 5
Griscelli syndrome type 2 5
Hearing impairment 5
Hereditary angioedema type 1 5
Heterotaxia 5
Histiocytic medullary reticulosis 5
Hyaline fibromatosis syndrome 5
Hydrocephalus, congenital, 2, with or without brain or eye anomalies 5
Hypertelorism, Teebi type 5
Hypobetalipoproteinemia 5
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 5
IRF2BPL-related condition 5
Insulin-like growth factor 1 resistance to 5
Intraocular melanoma 5
Joubert Syndrome and Related Disorders 5
Joubert syndrome 9 5
Joubert syndrome; Meckel-Gruber syndrome 5
Kallmann syndrome 1 5
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 5
LEUKODYSTROPHY, HYPOMYELINATING, 18 5
Leber congenital amaurosis 2 5
Legius syndrome 5
Leukodystrophy, hypomyelinating, 2 5
Leukodystrophy, hypomyelinating, 6 5
Lig4 syndrome 5
Limb-girdle muscular dystrophy, type 2S 5
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 5
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 5
Loeys-Dietz syndrome 1 5
Loeys-Dietz syndrome 3 5
Low alkaline phosphatase 5
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 5
Melanoma-pancreatic cancer syndrome 5
Mental retardation, X-linked 12 5
Mental retardation, autosomal dominant 14 5
Mental retardation, autosomal dominant 18 5
Mental retardation, autosomal dominant 19 5
Mental retardation, autosomal dominant 24 5
Mental retardation, autosomal dominant 41 5
Mental retardation, autosomal recessive 42 5
Microphthalmia, syndromic 12 5
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 5
Mitochondrial complex I deficiency, nuclear type 1 5
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 5
Multiple congenital anomalies-hypotonia-seizures syndrome 3 5
Multiple epiphyseal dysplasia 1 5
Muscular dystrophy, limb-girdle, type 2y 5
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 5
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 5
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS 5
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES 5
Neonatal intrahepatic cholestasis caused by citrin deficiency 5
Nephrotic syndrome 5
Niemann-Pick disease, type C 5
Nongoitrous Euthyroid Hyperthyrotropinemia 5
Oculocutaneous albinism type 4 5
Opitz GBBB syndrome, type I 5
Pancreatic Neoplasms 5
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 5
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 5
Peroxisome biogenesis disorder 5a (zellweger); Peroxisome biogenesis disorder 5B 5
Platelet-type bleeding disorder 18 5
Polycystic kidney disease 5
Primary autosomal recessive microcephaly 4 5
Primary dilated cardiomyopathy; Neuromuscular Diseases 5
Primary open angle glaucoma 5
Progressive familial intrahepatic cholestasis 4 5
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type 5
Pseudohypoaldosteronism type 1 autosomal dominant 5
Pyruvate kinase deficiency of red cells 5
Roifman syndrome 5
STAG2-related disorder 5
Scapulohumeral muscular dystrophy 5
Seizures; Intellectual disability; Neurodevelopmental delay 5
Sengers syndrome 5
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 5
Split-hand/foot malformation 6 5
Spondylocarpotarsal synostosis syndrome 5
Spondylometaphyseal dysplasia - Sutcliffe type 5
Tetralogy of Fallot 5
Thyroid hormone resistance, generalized, autosomal dominant 5
Tooth agenesis 5
Trimethylaminuria 5
Tuberous sclerosis syndrome 5
Undetermined early-onset epileptic encephalopathy 5
VATER association 5
Van der Woude syndrome 5
Vascular Tumors Including Pyogenic Granuloma 5
Xia-Gibbs syndrome 5
von Willebrand disease type 2 5
2-aminoadipic 2-oxoadipic aciduria 4
22q11.2 central deletion syndrome 4
46,XY sex reversal, type 6 4
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 4
APC-mutation negative familial colorectal cancer 4
Achondrogenesis, type IB; Atelosteogenesis type 2; Multiple epiphyseal dysplasia 4; Diastrophic dysplasia 4
Acute intermittent porphyria 4
Adult junctional epidermolysis bullosa 4
Aicardi Goutieres syndrome 4
Aicardi-Goutieres syndrome 7 4
Alazami syndrome 4
Alexander Disease 4
Alzheimer disease, type 3 4
Androgen resistance syndrome 4
Anophthalmia - microphthalmia 4
Arrhythmia 4
Arrhythmogenic right ventricular cardiomyopathy, type 11 4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 4
Arterial tortuosity syndrome 4
Arthrogryposis, distal, with impaired proprioception and touch 4
Atypical hemolytic-uremic syndrome 3 4
Baraitser-Winter Syndrome 2 4
Bartter syndrome, type 1, antenatal 4
Becker muscular dystrophy 4
Bernard Soulier syndrome 4
Breast and colorectal cancer, susceptibility to 4
Breast-ovarian cancer, familial 3 4
Brody myopathy 4
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 4
Camptomelic dysplasia 4
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 4
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1; Lehman syndrome; Infantile myofibromatosis 2 4
Child syndrome 4
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 4
Christianson syndrome 4
Ciliary dyskinesia, primary, 7 4
Coenzyme Q10 deficiency, primary 1 4
Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 4
Combined oxidative phosphorylation deficiency 13 4
Combined oxidative phosphorylation deficiency 20 4
Combined oxidative phosphorylation deficiency 23 4
Common variable immunodeficiency 2 4
Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay 4
Congenital disorder of glycosylation type 1J 4
Congenital microcephaly 4
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 4
Corneal dystrophy 4
Cortical dysplasia, complex, with other brain malformations 1 4
Craniosynostosis 1; Saethre-Chotzen syndrome 4
Crouzon syndrome 4
DE SANCTIS-CACCHIONE SYNDROME 4
DEAFNESS, AUTOSOMAL RECESSIVE 57 4
Deafness, autosomal dominant 20 4
Deafness, autosomal recessive 28 4
Deafness, autosomal recessive 29 4
Deficiency of 2-methylbutyryl-CoA dehydrogenase 4
Deficiency of ferroxidase 4
Deficiency of pyrroline-5-carboxylate reductase 4
Dent disease 2 4
Dilated cardiomyopathy 1DD 4
Disease 4
Disseminated atypical mycobacterial infection 4
Distal shortening of limbs 4
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 4
Early infantile epileptic encephalopathy 5 4
Ectodermal dysplasia and immunodeficiency 1 4
Ehlers-Danlos syndrome dermatosparaxis type 4
Ehlers-Danlos syndrome, hydroxylysine-deficient 4
Encephalopathy 4
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 4
Epilepsy, familial focal, with variable foci 2 4
Epilepsy, familial focal, with variable foci 3 4
Epileptic encephalopathy, early infantile, 19 4
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 4
Epileptic encephalopathy, early infantile, 23 4
Epileptic encephalopathy, early infantile, 28 4
Epileptic encephalopathy, early infantile, 32 4
FG syndrome 1 4
FGFR2 related craniosynostosis 4
Familial hypercholesterolemia 3 4
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 4
Familial infantile myasthenia 4
Familial renal glucosuria 4
Fanconi anemia, complementation group I 4
Focal epilepsy 4
Fructose-biphosphatase deficiency 4
Generalized epilepsy with febrile seizures plus, type 9 4
Geroderma osteodysplastica 4
Giant axonal neuropathy 1 4
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair 4
Glomuvenous malformations 4
Glycogen storage disease 4
Glycogen storage disease, type IV 4
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 4
Glycogen storage disease, type VI 4
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 4
Gyrate atrophy 4
Helsmoortel-Van der Aa Syndrome 4
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 4
Hermansky-Pudlak syndrome 1 4
Hermansky-Pudlak syndrome 6 4
Holoprosencephaly 5 4
Homocystinuria 4
Hutchinson-Gilford syndrome 4
Hydrops, lactic acidosis, and sideroblastic anemia 4
Hyperphosphatasia-intellectual disability syndrome 4
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 4
Hypophosphatasia 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 4
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 4
Immunodeficiency with hyper IgM type 2 4
Infantile liver failure syndrome 2 4
Infantile-onset ascending hereditary spastic paralysis 4
Interstitial lung and liver disease 4
Kallmann syndrome 3 4
Koolen-de Vries syndrome 4
Leber congenital amaurosis 2; Retinitis pigmentosa 20 4
Leber congenital amaurosis 6 4
Leber congenital amaurosis 8 4
Leukocyte adhesion deficiency type 1 4
Limb-girdle muscular dystrophy, type 2G 4
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 4
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 4
Lissencephaly, X-linked 4
Liver failure acute infantile 4
Lowe syndrome 4
Lymphedema, primary, with myelodysplasia 4
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 4
MYO7A-Related Disorders 4
Malignant hyperthermia susceptibility 4
Malignant tumor of prostate 4
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 4
Maple syrup urine disease type 1B 4
Mental retardation, autosomal dominant 15 4
Mental retardation, autosomal dominant 32 4
Microcephalic osteodysplastic primordial dwarfism type 2 4
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 4
Microphthalmia/coloboma and skeletal dysplasia syndrome 4
Mitochondrial DNA depletion syndrome 2 4
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 4
Molybdenum cofactor deficiency, complementation group A 4
Molybdenum cofactor deficiency, complementation group C 4
Mucolipidosis 4
Mucopolysaccharidosis type VII 4
Muscular dystrophy-dystroglycanopathy 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 4
Myasthenia, limb-girdle, familial 4
Myasthenic syndrome, congenital, 22 4
Myeloproliferative Neoplasm 4
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 4
Myopathy, early-onset, with fatal cardiomyopathy 4
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 4
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY 4
Nail-patella syndrome 4
Nephrotic syndrome, type 3 4
Nephrotic syndrome, type 7 4
Neurodegeneration with brain iron accumulation 2b 4
Neurodevelopmental delay 4
Neurodevelopmental disorder with hypotonia, seizures, and absent language 4
Neuropathy, hereditary sensory and autonomic, type VI 4
Niemann-Pick disease, type B 4
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 4
OOCYTE MATURATION DEFECT 4 4
Oculocutaneous albinism 4
Oculofaciocardiodental syndrome 4
Odontotrichomelic syndrome 4
Oligodontia-colorectal cancer syndrome 4
Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 4
Orofaciodigital syndrome 6; Joubert syndrome 17 4
Osteochondrodysplasia 4
Osteodysplastic primordial dwarfism, type 1 4
Osteogenesis imperfecta type 8 4
Osteoporosis with pseudoglioma 4
Pena-Shokeir syndrome type I 4
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 4
Periventricular nodular heterotopia 4
Permanent neonatal diabetes mellitus 4
Peroxisome biogenesis disorder 9B 4
Pfeiffer syndrome 4
Phytanic acid storage disease 4
Pigmentary retinal dystrophy 4
Pigmented nodular adrenocortical disease, primary, 2 4
Polycystic kidney disease 3 4
Pontocerebellar hypoplasia type 2B 4
Pontocerebellar hypoplasia, type 1b 4
Poretti-Boltshauser syndrome 4
Primary autosomal recessive microcephaly 1 4
Primary pulmonary hypertension 4
Progressive cone dystrophy (without rod involvement) 4
Progressive familial intrahepatic cholestasis 2 4
Reduced prothrombin activity 4
Retinitis pigmentosa 26 4
Retinitis pigmentosa 76 4
Rhabdoid tumor predisposition syndrome 1 4
Roberts-SC phocomelia syndrome 4
Rothmund-Thomson syndrome type 1 4
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 4
Salt and pepper developmental regression syndrome 4
Schimke immunoosseous dysplasia 4
Scoliosis 4
Short rib-polydactyly syndrome, Majewski type 4
Shwachman-Diamond syndrome 1 4
Spastic paraplegia 30, autosomal recessive 4
Spastic paraplegia 77, autosomal recessive 4
Spinal muscular atrophy 4
Spinal muscular atrophy, distal, autosomal recessive, 5 4
TNF receptor-associated periodic fever syndrome (TRAPS) 4
Treacher Collins syndrome 1 4
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 4
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 4
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 4
Ventricular tachycardia 4
Ventricular tachycardia, catecholaminergic polymorphic, 2 4
West syndrome 4
Wolfram syndrome 4
22q13.3 deletion syndrome 3
AUDITORY NEUROPATHY AND OPTIC ATROPHY 3
Abetalipoproteinaemia 3
Achondrogenesis, type IA 3
Achondrogenesis, type II 3
Acute neuronopathic Gaucher's disease 3
Acyl-CoA dehydrogenase family, member 9, deficiency of 3
Adams-Oliver syndrome 3
Adams-Oliver syndrome 3 3
Amyotrophic lateral sclerosis 16, juvenile 3
Andersen Tawil syndrome 3
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3
Anemia, sideroblastic, 2, pyridoxine-refractory 3
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 3
Anophthalmos with limb anomalies 3
Aortic aneurysm, familial thoracic 6 3
Ataxia, spastic, 2, autosomal recessive 3
Atrial septal defect 7 with or without atrioventricular conduction defects 3
Atypical hemolytic-uremic syndrome 1 3
Atypical hemolytic-uremic syndrome 5 3
Autoimmune lymphoproliferative syndrome 3
Autosomal dominant epilepsy 3
Autosomal recessive axonal neuropathy with neuromyotonia 3
Autosomal recessive cutis laxa type 1B 3
Axenfeld-Rieger syndrome type 1; Iridogoniodysgenesis, dominant type 3
Bardet-Biedl syndrome 13 3
Bardet-Biedl syndrome 16 3
Bardet-Biedl syndrome 4 3
Bardet-Biedl syndrome 5 3
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 3
Benign familial neonatal seizures 2 3
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 3
Brain malformations and urinary tract defects 3
Brain small vessel disease with hemorrhage 3
Brown-Vialetto-Van Laere syndrome 2 3
Brugada syndrome (shorter-than-normal QT interval) 3
C-like syndrome 3
COFFIN-SIRIS SYNDROME 6 3
COG7 congenital disorder of glycosylation 3
Cardiofaciocutaneous syndrome 1; Lung cancer; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 3
Cataract 3, multiple types 3
Cerebellar ataxia 3
Cerebellar ataxia, nonprogressive, with mental retardation 3
Cerebral cavernous malformations 2 3
Cerebroretinal microangiopathy with calcifications and cysts 1 3
Charcot-Marie-Tooth disease, axonal, type 2z 3
Choroideremia 3
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 3
Ciliary dyskinesia, primary, 30 3
Ciliary dyskinesia, primary, 9 3
Collagen VI-related myopathy 3
Colorectal cancer, susceptibility to, 12 3
Combined deficiency of factor V and factor VIII, 1 3
Combined oxidative phosphorylation deficiency 1 3
Combined oxidative phosphorylation deficiency 24 3
Combined oxidative phosphorylation deficiency 8 3
Cone-rod dystrophy 6 3
Congenital adrenal hypoplasia, X-linked 3
Congenital anomalies of kidney and urinary tract 3
Congenital diaphragmatic hernia 3
Congenital disorder of glycosylation type 1F 3
Congenital disorder of glycosylation type 2C 3
Congenital dyserythropoietic anemia, type I 3
Congenital hemolytic anemia 3
Congenital muscular dystrophy due to partial LAMA2 deficiency 3
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 3
Congenital myotonia, autosomal recessive form 3
Congenital primary aphakia 3
Congenital sensorineural hearing impairment 3
Cornea plana 2 3
Cornelia de Lange syndrome 4 3
Cranioectodermal dysplasia 2 3
Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5 3
Craniosynostosis syndrome 3
Crigler-Najjar syndrome 3
Cyclical neutropenia 3
Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 3
Deafness, autosomal dominant 10 3
Deafness, autosomal dominant 11 3
Deafness, autosomal recessive 22 3
Deafness, autosomal recessive 32 3
Deafness, autosomal recessive 53 3
Deafness, autosomal recessive 8 3
Desbuquois dysplasia 1 3
Desmosterolosis 3
Diabetes mellitus AND insipidus with optic atrophy AND deafness 3
Diarrhea 7 3
Dilated cardiomyopathy 1KK 3
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 3
Distal arthrogryposis type 2B 3
Distal myopathy Markesbery-Griggs type 3
Drash syndrome 3
Dyskeratosis congenita autosomal dominant 3
Dystonia 10 3
Dystrophic epidermolysis bullosa 3
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES 3
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 3
Early infantile epileptic encephalopathy 10 3
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 3
Early myoclonic encephalopathy 3
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 3
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 3
Endometrial carcinoma 3
Enlarged vestibular aqueduct; Pendred syndrome 3
Epileptic encephalopathy, early infantile, 27 3
Epileptic encephalopathy, early infantile, 42 3
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 3
Estrogen resistance 3
Extra oral halitosis 3
Familial cancer of breast; Ataxia-telangiectasia syndrome 3
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 3
Familial hypercholesterolemia 2 3
Familial hypertrophic cardiomyopathy 11 3
Familial juvenile gout 3
Fanconi anemia, complementation group L 3
Focal dermal hypoplasia 3
Focal segmental glomerulosclerosis 1 3
Fraser syndrome 1 3
GLUT1 deficiency syndrome 1, autosomal recessive 3