ClinVar Miner

Variants reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 467534
Total variants unanimously reported as uncertain significance: 410778

Breakdown by submitter #

Total submitters: 673
Download table as spreadsheet
Submitter Variants
Invitae 229901
Illumina Clinical Services Laboratory,Illumina 100207
Ambry Genetics 34712
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 28412
GeneDx 27172
Color Health, Inc 22036
CeGaT Praxis fuer Humangenetik Tuebingen 12928
Natera, Inc. 9102
Quest Diagnostics Nichols Institute San Juan Capistrano 8460
Counsyl 8227
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7691
Baylor Genetics 7395
Integrated Genetics/Laboratory Corporation of America 6681
Athena Diagnostics Inc 5124
Genetic Services Laboratory, University of Chicago 5082
Department of Pathology and Laboratory Medicine,Sinai Health System 4367
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3821
ISCA site 1 3591
Lineagen, Inc 3481
Fulgent Genetics,Fulgent Genetics 3291
Mendelics 2954
ISCA site 19 2732
Blueprint Genetics 2451
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2223
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1606
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1543
Inherited Neuropathy Consortium 1269
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1257
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1226
Institute of Human Genetics, University of Leipzig Medical Center 1220
Gharavi Laboratory,Columbia University 1188
Breast Cancer Information Core (BIC) (BRCA2) 1086
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 991
PreventionGenetics, PreventionGenetics 989
Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca 922
New York Genome Center 904
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 893
Breast Cancer Information Core (BIC) (BRCA1) 831
Mayo Clinic Laboratories, Mayo Clinic 817
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 816
Sharing Clinical Reports Project (SCRP) 813
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 796
Stanford Center for Inherited Cardiovascular Disease, Stanford University 706
Molecular Genetics Laboratory,London Health Sciences Centre 642
OMIM 600
ISCA site 6 576
Leiden Open Variation Database 547
ISCA site 4 537
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 536
CSER _CC_NCGL, University of Washington 527
Broad Institute Rare Disease Group, Broad Institute 511
GeneKor MSA 408
Science for Life laboratory, Karolinska Institutet 407
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 374
Center for Human Genetics, Inc,Center for Human Genetics, Inc 338
NIHR Bioresource Rare Diseases, University of Cambridge 305
Johns Hopkins Genomics, Johns Hopkins University 286
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 285
Genesis Genome Database 283
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 256
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 254
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 252
Cancer Genomics Group,Japanese Foundation For Cancer Research 252
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 249
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 245
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 245
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 242
SIB Swiss Institute of Bioinformatics 241
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 234
GeneReviews 230
Richard Lifton Laboratory, Yale University School of Medicine 225
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 224
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 214
Knight Diagnostic Laboratories, Oregon Health and Sciences University 207
Diagnostic Laboratory, Strasbourg University Hospital 197
RettBASE 195
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 183
University of Washington Department of Laboratory Medicine, University of Washington 180
Center for Medical Genetics Ghent,University of Ghent 179
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 179
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 179
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 173
Ocular Genomics Institute, Massachusetts Eye and Ear 171
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 164
Genetics and Genomics Program,Sidra Medicine 153
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 152
Clinical Genetics laboratory, University of Goettingen 147
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 147
PXE International 145
Clinical Genetics, Erasmus University Medical Center 143
True Health Diagnostics 142
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 138
Division of Human Genetics,Children's Hospital of Philadelphia 137
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 137
Service de Génétique Moléculaire,Hôpital Robert Debré 136
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 132
Undiagnosed Diseases Network,NIH 128
University of Washington Center for Mendelian Genomics, University of Washington 126
ClinGen PAH Variant Curation Expert Panel 125
Fundacion Hipercolesterolemia Familiar 118
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 117
LDLR-LOVD, British Heart Foundation 113
Sydney Genome Diagnostics,Children's Hospital Westmead 113
ClinVar Staff, National Center for Biotechnology Information (NCBI) 112
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 110
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 109
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 107
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 106
Center for Human Genetics,University of Leuven 105
ISCA site 17 104
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 103
Research and Development, ARUP Laboratories 102
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 102
Robarts Research Institute,Western University 100
ISCA site 15 98
Institute of Human Genetics,University of Wuerzburg 98
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 98
Institute of Human Genetics,Cologne University 96
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 95
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 94
Genomic Medicine Lab, University of California San Francisco 93
ISCA site 14 92
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 92
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 91
Molecular Oncology Research Center,Barretos Cancer Hospital 90
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 89
3DMed Clinical Laboratory Inc 87
Birmingham Platelet Group; University of Birmingham 86
Institute of Human Genetics,Polish Academy of Sciences 85
Department of Genetics,Sultan Qaboos University Hospital, Oman 84
Clinical Biochemistry Laboratory,Health Services Laboratory 79
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 79
Division of Medical Genetics, University of Washington 78
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 75
Genome Diagnostics Laboratory, The Hospital for Sick Children 72
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 71
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 69
Elsea Laboratory,Baylor College of Medicine 68
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 64
Cavalleri Lab, Royal College of Surgeons in Ireland 63
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 62
Center of Genomic medicine, Geneva,University Hospital of Geneva 62
Phosphorus, Inc. 60
Pathway Genomics 59
Human Genetics - Radboudumc,Radboudumc 59
Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere 58
Klaassen Lab,Charite University Medicine Berlin 56
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 55
Iberoamerican FH Network 54
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 54
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 53
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 53
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 53
Medical Genetics, University of Parma 50
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 50
Rare Disease Group, Clinical Genetics,Karolinska Institutet 48
Génétique des Maladies du Développement, Hospices Civils de Lyon 48
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 47
Reproductive Development, Murdoch Childrens Research Institute 47
ClinGen Hearing Loss Variant Curation Expert Panel 47
Michigan Medical Genetics Laboratories,University of Michigan 46
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 46
Paris Brain Institute,Inserm - ICM 45
Center of Medical Genetics and Primary Health Care 44
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 43
Department of Vascular Biology,Beijing Anzhen Hospital 43
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 42
Center for Genetic Medicine Research,Children's National Medical Center 41
ClinGen PTEN Variant Curation Expert Panel 41
Reproductive Health Research and Development,BGI Genomics 41
Faculté Pluridciplinaire Nador,Université Mohamed Premier 41
Claritas Genomics 40
Kariminejad - Najmabadi Pathology & Genetics Center 40
ISCA site 8 39
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 38
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 38
McDonnell Genome Institute,Washington University in St. Louis 38
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 38
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 36
GenomeConnect - Simons Searchlight 36
Immunobiology Lab; University of Kashmir 35
ALS/MND Lab,University of Malta 35
Cytogenetics and Genomics Laboratory,University of Washington 34
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 34
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 34
Molecular Genetics Laboratory,Institute for Ophthalmic Research 33
Genome Diagnostics Laboratory,University Medical Center Utrecht 32
SingHealth Duke-NUS Institute of Precision Medicine 32
ClinGen CDH1 Variant Curation Expert Panel 32
ClinGen RASopathy Variant Curation Expert Panel 31
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 30
Centre of Medical Genetics, University of Antwerp 30
Center for Statistical Genetics, Columbia University 30
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 30
Research Lab, National Institute of Public Health 29
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 29
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 29
Department of Molecular Biology and Genetics,Istanbul Technical University 29
Ding PR Lab,Sun Yat-sen University Cancer Center 29
MAGI's Lab - Research,MAGI Group 29
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 28
Medical Research Institute,Tokyo Medical and Dental University 28
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 28
Ege University Pediatric Genetics,Ege University 28
ClinGen Myeloid Malignancy Variant Curation Expert Panel 28
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 28
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 27
Institute of Human Genetics, Uniklinik RWTH Aachen 26
Breda Genetics srl 26
Nilou-Genome Lab 26
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 26
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 25
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 25
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 25
Kasturba Medical College, Manipal University 25
Clinical Genomics Program, Stanford Medicine 25
Santos-Cortez Lab,University of Colorado School of Medicine 24
Department of Pathology and Molecular Medicine,Queen's University 24
Division of Human Genetics,Medical University Innsbruck 23
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 23
Pars Genome Lab 23
Laboratory of Molecular Genetics,CHU RENNES 22
Institute of Cellular and Molecular Medicine,Copenhagen University 22
Cirak Lab,University Hospital Cologne 22
Institute of Reproductive Genetics, University of Münster 22
Constitutional Genetics Lab,Leon Berard Cancer Center 22
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 21
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 21
National Institute on Deafness and Communication Disorders,National Institutes of Health 21
UMR-S1161,Institut national de la santé et de la recherche médicale 21
MVZ Dr. Eberhard & Partner Dortmund 20
TIDEX, University of British Columbia 20
Dan Cohn Lab,University Of California Los Angeles 20
Breast Center,Key Laboratory of Carcinogenesis and Translational Research 20
Human Developmental Genetics,Institut Pasteur 20
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 19
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 19
Center for Reproductive Medicine, Peking University Third Hospital 19
Precision Medicine Center,Zhengzhou University 19
Loeys Lab,Universiteit Antwerpen 19
Medical & Molecular Genetics Group,University of Lincoln 18
Dept. of Medical Genetics, Telemark Hospital Trust 18
Department of Pediatrics, Gifu University 18
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 18
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 17
Genome Sciences Centre,British Columbia Cancer Agency 17
Vantari Genetics 17
Department of Medical Genetics, University Hospital of North Norway 17
Albrecht-Kossel-Institute,Medical University Rostock 16
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 16
Myllykangas group,University of Helsinki 16
Neurogenetics Laboratory - MEYER,AOU Meyer 16
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 16
Wendy Chung Laboratory,Columbia University Medical Center 16
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 16
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 16
Eye Genetics Research Group,Children's Medical Research Institute 15
ISCA site 2 15
Care4Rare-SOLVE, CHEO 15
Klinisk genetik och genomik Research,Gothenburg University 15
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 15
ClinGen TP53 Variant Curation Expert Panel,ClinGen 15
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 15
Sydney Children's Hospital, SCHN 14
Department of Molecular and Human Genetics, Baylor College of Medicine 14
Cytogenetics Laboratory,Banaras Hindu University 14
Molecular Oncology Laboratory,Hospital Clínico San Carlos 14
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 14
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 14
Molecular Diagnostics Laboratory,Seoul National University Hospital 13
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 13
Laboratory of Genomics, Instituto Nacional de Cardiología Ignacio Chávez 13
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) 13
Daryl Scott Lab,Baylor College of Medicine 13
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 13
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 13
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 13
Genetics Department,Polish Mother's Memorial Hospital Research Institute 13
Department of Pharmacy and Biotechnology,University of Bologna 12
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 12
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 12
Karsan Lab,BC Cancer Agency 12
Yale Center for Mendelian Genomics,Yale University 12
Genetics Department,University Hospital of Toulouse 12
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 12
Paediatric Orthopaedics Research Lab,Christian Medical College 12
Pediatric Oncology, Johns Hopkins University 12
Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto 11
Wessex Regional Genetics Laboratory,Salisbury District Hospital 11
Genome Medicine,Institute for Basic Research in Developmental Disabilities 11
Genetics Institute, Tel Aviv Sourasky Medical Center 11
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 10
State Key Lab of Medical Genetics, Central South University 10
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 10
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 10
Department of Internal Medicine, University of Texas Health Science Center at Houston 10
Hadassah Hebrew University Medical Center 10
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 10
Department of Human Genetics, University Hospital Magdeburg 10
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 10
Uitto Lab,Thomas Jefferson University 10
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 10
Laboratory of Molecular Genetics and Genomics,Rennes University Hospital 10
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 10
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 9
INSERM U1051, Institut des Neurosciences de Montpellier 9
Molecular Genetics Laboratory; Baylor College of Medicine 9
MVZ Praenatalmedizin und Genetik Nuernberg 9
Muenke lab,National Institutes of Health 9
Tolun Lab, Human Genetics Laboratory,Bogazici University 9
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 9
Center for Precision Medicine,Vanderbilt University Medical Center 9
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 9
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 9
INGEBI, INGEBI / CONICET 9
Human Genetics Department,Tarbiat Modares University 9
Laboratory of Genetics in Ophthalmology,Institut Imagine 9
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 9
ISCA site 3 8
ISCA site 7 8
ISCA site 10 8
Centre for Genomic and Experimental Medicine,University of Edinburgh 8
Faculty of Pharmacy,Medical University of Gdansk 8
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 8
Department of Genetics,Fundacion Jimenez Diaz University Hospital 8
Section on Medical Neuroendocrinolgy,National Institutes of Health 8
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 8
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 8
Department of Medical Genetics,Faculty of Medicine, Istanbul University 8
Human Genetic Laboratory,University of Liege 8
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 7
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 7
L V Prasad Eye Institute, Hyderabad Eye Research Foundation 7
Dobyns Lab,Seattle Children's Research Institute 7
NeuroMeGen,Hospital Clinico Santiago de Compostela 7
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 7
Kids Research, The Children's Hospital at Westmead 7
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 7
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 7
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 7
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 7
Neurosurgery,Yale University School of Medicine 7
Godley laboratory, The University of Chicago 7
Hehr Laboratory,Center for Human Genetics - University of Regensburg 6
Neurogenetic Laboratory,Oslo University Hospital 6
CHU Sainte-Justine Research Center,University of Montreal 6
Centre for Human Genetics 6
Karolinska institutet 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 6
Division of Host Defense,Kyushu University 6
Neurogenetics Research Program, University of Adelaide 6
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 6
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 6
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 6
CMT Laboratory,Bogazici University 6
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 6
Molecular Genetics and Enzymology, National Research Centre 5
Department of Breast and Endocrine Surgery,Kumamoto University 5
DST/NWU Preclinical Drug Development Platform,North-West University 5
Molecular Pathology, SA Pathology 5
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 5
Lars Feuk Lab,Uppsala University 5
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 5
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 5
GeneID Lab - Advanced Molecular Diagnostics 5
Michaelson Lab,University of Iowa 5
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 5
Medical Affairs,Enzyvant 5
Institute for Human Genetics, University Hospital Essen 5
Jiangsu Key Laboratory of Oral Diseases,Nanjing Medical University 5
Section for Clinical Neurogenetics,University of Tübingen 5
Medical Genetics Laboratory,Tarbiat Modares University 5
Hongyan Wang Laboratory,Fudan University 5
Fondazione Telethon,Telethon Institute of Genetics and Medicine 5
Elahi Laboratory, University of Tehran 4
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 4
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 4
National Institute of Mental Health and Neurosciences 4
Pediatric Services,National Institutes of Health, Clinical Center 4
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 4
Human Genetics Disease in Children – Taif University,Taif University 4
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 4
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 4
Weber Lab,Hannover Medical School 4
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 4
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 4
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 4
Arora Lab,Fox Chase Cancer Center 4
Pharmacology and Genetics Laboratory,Bauru School of Dentistry, University of Sao Paulo 4
Service de Génétique Médicale,Institut Central des Hôpitaux 4
The Raphael Recanati Genetics Institute,Rabin Medical Center 4
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 4
Biochemistry Laboratory of CDMU,Chengde Medical University 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 4
Clinical Genetics Research Group,Karolinska Institutet 4
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 4
NxGen MDx 4
Laboratorio Genetica Umana,Istituto Giannina Gaslini 4
CeMIA 4
Moosajee Lab,UCL Institute of Ophthalmology 4
Shieh Lab,University of California, San Francisco 4
Institute of Medical Molecular Genetics, University of Zurich 3
ITMI 3
Genomics and Pathology Services,Washington University in St.Louis 3
Bone Marrow Failure laboratory,Queen Mary University London 3
Lyon Laboratory, Cold Spring Harbor Laboratory 3
UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini 3
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 3
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 3
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 3
Medical Molecular Genetics Department, National Research Center 3
GenePathDx,Causeway Health Care Private Ltd 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 3
Antonellis Laboratory at Michigan,University of Michigan 3
Genetics and Molecular Pathology Laboratory,Hudson Institute of Medical Research 3
Genetics Division,Universidade Federal de Sao Paulo 3
Service de Pédiatrie - Neurologie et infectiologie - Toulouse,CHU de Toulouse - Hôpital des Enfants 3
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3
The Division of Genetics and Genomic Medicine,Washington University School of Medicine 3
Human Genetics Laboratory,State University of Rio de Janeiro 3
Cancer Genetics Service,National Cancer Centre Singapore 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 3
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 3
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 3
Treehouse Childhood Cancer Initiative,UC Santa Cruz 3
Institute of Pediatric Research, Children's Hospital of Soochow University,Soochow University 3
Department of Biochemistry, Faculty of Medicine, University of Khartoum 3
Department of Cardiology, Chinese Academy of Medical Sciences,Fuwai Hospital 3
Constantin Polychronakos Laboratory,The Research Institute of the McGill University Health Centre 3
Investigational Cancer Therapeutics,MD Anderson Cancer Center 3
Gastroenterology Department,Qilu Hospital of Shandong University 3
Research Unit of Respiratory Disease,The Second Xiangya Hospital of Central South University 3
Klinik und Poliklinik für Kinderchirurgie,Technische Universität Dresden, Universitätsklinikum Carl Gustav Carus 3
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 2
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 2
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 2
Exeter Molecular Genetics Laboratory 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2
UniProtKB/Swiss-Prot 2
Academic Department of Medical Genetics, University of Cambridge 2
Mitochondrial Research; Murdoch Childrens Research Institute 2
Institute of Human Genetics, Klinikum rechts der Isar 2
Institute for Genetics of Heart Diseases, University Hospital Muenster 2
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 2
Department of Prosthodontics,Peking University School and Hospital of Stomatology 2
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 2
Department of Medical Genetics, Oslo University Hospital 2
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 2
Mayo Clinic Health System - Franciscan Health care,Mayo Clinic Health System 2
Endocrine Unit 2,University Hospital of Pisa 2
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS 2
Center for Human Disease Modeling,Duke University Medical Center 2
HerediLab, Inc. 2
Gene Discovery Core-Manton Center,Boston Children's Hospital 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 2
Malformation Genetics,Karolinska Institutet 2
Hereditary Hearing Loss Research Unit,University of Madras 2
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 2
Neurology Department,Peking University First Hospital 2
Kere lab,Karolinska Institutet 2
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 2
Division of Rheumatology, Allergy and Immunology, UCSD 2
Genetic Laboratory,Instituto Nacional de Cancer 2
Eone-Diagnomics Genome Center 2
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 2
Medgenome Labs Pvt Ltd 2
Institute of Reproductive and Stem Cell Engineering,Central South University 2
Institute of Endocrinology, Diabetes & Metabolism,Max Healthcare Institute Ltd. 2
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 2
Bodamer Research Lab,Boston Children's Hospital 2
Institute for Genomic Medicine, Nationwide Children's Hospital 2
Department of Pathology and Genetics,University of Gothenburg 2
Pediatric Genomics Discovery Program,Yale University 2
MK Azim Lab,Mohammad Ali Jinnah University 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2
Department of Internal Medicine, The University of Texas McGovern Medical School,The University of Texas Health Science Center at Houston 2
Dash Lab,University Health Network 2
Lab. Molecular Oncology,VUB, Free University of Brussels 2
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 2
Bezmialem Vakif University, Medical Faculty 2
van Haaften laboratory, University Medical Center Utrecht 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2
Department of Medical Genetics,University of Pecs 2
Coyote Medical Laboratory (Beijing),Coyote 2
Clinical Genetics, Amsterdam Medical Centre 2
ACT Genomics, 2
Center for Biomedical Information,Shanghai Children’s Hospital 2
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 2
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 2
GBinsight Genetic Testing by GB HealthWatch,Genben Lifesciences Corporation 2
Genetics,Children's Hospital New Orleans 2
College of Medicine Research Centre,King Saud Univeristy 2
Institute of Medical Sciences, Banaras Hindu University 2
Experimental and Health Sciences Department,Universitat Pompeu Fabra 2
Geng Laboratory,The Second Hospital Affiliated to Xi’an Jiaotong University 2
DeNA Laboratory, DeNA Laboratory 2
Heon Lab,The Hospital for Sick Children 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 2
Department of Ophthalmology,California Pacific Medical Center 2
Arkana Molecular Diagnostic Laboratory,Arkana Laboratories 2
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 2
Anophthalmia/Microphthalmia Research Registry,Einstein Medical Center Philadelphia 2
Department of Human Genetics,University of the Free State 2
Departement de Genetique, Biologie Moleculaire Endocrinienne,Assistance Publique–Hôpitaux de Paris, Hopital Trousseau 2
Heart Failure and Familial Heart Diseases Unit,Hospital Universitario Virgen de la Victoria 2
Institute for Human Genetics,University Clinic Freiburg 1
King Laboratory,University of Washington 1
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 1
MGZ Medical Genetics Center 1
Genetics - Viapath,Viapath, Guy's Hospital 1
Keegan Laboratory,University of Michigan 1
Sema4,Sema4 1
Human Genetics Research Centre, St George's University of London 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1
Wellcome Centre for Mitochondrial Research,Newcastle University 1
Congenital Heart Disease Genetic Program Lab,American University of Beirut 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences 1
Clinical Genetics Laboratory,Christian Medical College, Vellore 1
University Children's Hospital, University of Zurich 1
Centro Diagnostico Italiano 1
Abrahams Lab,Albert Einstein College of Medicine 1
Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon 1
Foundation Medicine, Inc. 1
Laboratory of Human Genetics,Universidade de São Paulo 1
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 1
Institute of Biological Psychiatry,Mental Health Centre Sct. Hans, Copenhagen University Hospital 1
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1
UCL Genetics Institute,UCL 1
Dr. Peter K. Rogan Lab,Western University 1
Genetech,Genetech Research Institute 1
Molecular and Medical Genetics Group,King's College London 1
Laboratory of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital 1
Rui Chen Lab,Baylor College of Medicine 1
Hereditary Research Laboratory, Bethlehem University 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 1
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 1
Department of Ophthalmology,Flinders Medical Centre 1
Geschwind lab,University of California Los Angeles 1
Universitätsklinikum Salzburg,Universitätskinderklinik 1
Medical Genetics, University of Pavia 1
Central Haematology Laboratory,Luzerner Kantonsspital 1
Christopher A. Walsh Laboratory,Boston Children's Hospital 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1
Korbonits Lab,Queen Mary University of London 1
Hereditary Risk Evalutation Team,Medical School Hannover 1
International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota 1
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1
Prenatal Diagnosis Centre,Shenzhen Maternity and Child Healthcare Hospital 1
Human Development and Health,University of Southampton 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1
Tim Yu lab,Boston Children's Hospital 1
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 1
Caryl and Israel Englander Institute for Precision Medicine,Weill Cornell Medicine 1
Molecular Medicine Center, Medical University of Sofia 1
Clinical Genetics Laboratory,Region Ostergotland 1
Sanfordhealth-Fargo,Sanfordhealth 1
Embryology Laboratory,Victor Chang Cardiac Research Institute 1
Wangler Lab,Baylor College of Medicine 1
Institute of Medical Genetics,University of Zurich 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 1
Department of Medical Sciences,Uppsala University 1
Noruzinia Laboratory,Tarbiat Modares University 1
The Translational Medicine Center of Children Development and Disease,Fudan University 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1
Mitochondrial Research Group,Murdoch Children's Research Institute 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 1
SBielas Lab, Department of Human Genetics,University of Michigan 1
Dr Meenakshi Bhat Group,Centre for Human Genetics 1
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 1
Clinical Genetics Group,University of Otago 1
Costain lab, The Hospital for Sick Children 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1
Lilac Insights Pvt. Ltd. 1
Degerman lab,Umeå University 1
Pediatric Metabolic Diseases,Hacettepe University 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 1
Molecular Diagnostics Laboratory,Nadiya Clinic of Reproductive Medicine 1
Precision Medicine Oncology,Rutgers Cancer Institute of New Jersey 1
Molecular Genetics Lab, DMCH Ludhiana, Dayanand Medical College & Hospital (DMCH) 1
Laboratorio di Genetica e Neuroscienze,Istituto Giannina Gaslini 1
Department of Obstetrics and Gynecology,Montefiore Medical Center 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1
Center of Medical Genetics,Central South University 1
Australian Inherited Retinal Disease Registry & DNA Bank,Sir Charles Gairdner Hospital 1
Department of Neurology and Neurophysiology,Children's University Hospital 1
Genomics For Life 1
Laboratory of Molecular Genetics,Shanghai Jiao Tong University School of Medicine and Shanghai Institutes for Biological Sciences 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 1
Nalepa Lab,Indiana University School of Medicine 1
Western Connecticut Health Network,Rudy L. Ruggles Biomedical Research Institute 1
GOSgene,University College London Great Ormond Street Institute of Child Health 1
Department of Immunology and Histocompatibility, University of Thessaly 1
International Hereditary Cancer Center PUM,Pomeranian Medical University 1
Franklin by Genoox 1
Department of Biotechnology and Microbiology,Karnatak University Dharwad 1
Department of Pediatrics, Union Hospital,Tongji Medical College, Huazhong University of Science and Technology 1
Department of Pediatrics and Developmental Biology,Tokyo Medical and Dental University 1
Poduri Lab,Boston Children's Hospital 1
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital,All India Institute of Medical Sciences 1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 1
Department of Pediatrics,University of Ottawa 1
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 1
Center for Studies on Hereditary Cancer,University of Bologna 1
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 1
Flatmark laboratory,Institute for Cancer Research, Oslo University Hospital 1
Regeneron Genetics Center,Regeneron 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1
Laboratory of Medical Genetics,IRCCS Burlo Garofolo 1
State Key Laboratory of Genetic Engineering,Fudan University 1
Department of Medical Genetics,Nizam's Institute of Medical Sciences 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1
Molecular Pathology Laboratory,Cleveland Clinic 1
Belal Azab Laboratory,The University of Jordan 1
Department of Chemical Pathology,Prince of Wales Hospital 1
Daan van Aalten Lab,University of Dundee 1
Medical Genomics Research Department,King Abdullah International Medical Research Center 1
Dustin Baldridge Laboratory,Washington University in St. Louis 1
Stankiewicz Research Laboratory, Baylor College of Medicine 1
Myriad Women's Health, Inc. 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1
University Health Network,Princess Margaret Cancer Centre 1
Department of Obstetrics and Gynecology,Medical College of Wisconsin 1
Quironsalud Teknon Heart Institute,Quironsalud Teknon Hospital 1
Center for Advanced Diagnostics,Brigham and Women's Hospital 1
Linda Baker Laboratory, UT Southwestern Medical Center 1
Molecular Diagnosis Center for Deafness 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 1
Robert's Program,Boston Children's Hospital 1
Maintenance myélinique et neuropathies périphériques,University of Limoges 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1
Neuromuscular Department,Hannover Medical School 1
Molecular Genetics Laboratory,CHU Lille 1
Molecular Genetics Laboratory,Motol Hospital 1
Prenatal Diagnosis Center,Jiangxi Provincial Maternal and Child Care Hospital 1
Department of Medicine,University of Padua 1
Cell and Molecular Biology Laboratory,University of the Punjab Lahore 1
Endocrine Research Center, Institute of Endocrinology and Metabolism,Iran University of Medical Sciences 1
ENT and Head & Neck Research Center and Department,The Five Senses Institute 1
Medical Genetics,CHU Nice 1
Departement d'Immunology Plaquettaire,Institut National de la Transfusion Sanguine 1
Clinical Genomics Laboratory,AiLife Diagnostics 1
Arnesen Lab,University of Bergen 1
Molecular Genetics Laboratory Heidelberg, Heidelberg University 1
Malcovati Lab, University of Pavia 1
Miller Scoliosis Laboratory,University of Colorado Anschutz Medical Campus 1
LifeCell International Pvt. Ltd 1
Institute for Systems Analysis and Computer Science "A. Ruberti",National Research Council 1
Medical Genetics Laboratory,Gulhane Training and Research Hospital 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases,University of Belgrade, School of Medicine 1
Center for Human Genetics,University Hospitals Cleveland Medical Center 1
Aleixo Muise Laboratory, The Hospital for Sick Children 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 1
Rudy L. Ruggles Biomedical Research Institute,Danbury Hospital 1
Biochemistry and Molecular Biology, Faculty of Pharmacy,Al-Azhar University 1
Huiwen Zhang's lab,Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 1
ICM,Inserm 1
Physiology,Radboud University Medical Center 1
Department of Medical Laboratory,Affiliated Hospital of Southwest Medical University 1
Human Neuroscience,La Sapienza University of Rome 1
Genetics and Personalized Medicine,Danish Epilepsy Center 1
Shaanxi Institute for Pediatric Diseases,Xi'an Children's Hospital 1

Breakdown by condition #

Total conditions: 7359
Download table as spreadsheet
Condition Variants
not provided 114092
Hereditary cancer-predisposing syndrome 36303
not specified 23666
See cases 10178
Hereditary breast and ovarian cancer syndrome 6511
Hereditary nonpolyposis colorectal neoplasms 5809
Cardiomyopathy 4945
Ataxia-telangiectasia syndrome 4348
Familial cancer of breast 3944
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 3841
Familial adenomatous polyposis 1 3821
Cardiovascular phenotype 3012
Colorectal cancer, susceptibility to, 12 2999
Retinitis pigmentosa 2976
Primary ciliary dyskinesia 2955
Hypertrophic cardiomyopathy 2764
Fanconi anemia 2738
Neurofibromatosis, type 1 2731
Long QT syndrome 2638
Familial thoracic aortic aneurysm and aortic dissection 2515
Early infantile epileptic encephalopathy with suppression bursts 2179
Inborn genetic diseases 2139
Tuberous sclerosis 2 2063
Charcot-Marie-Tooth disease 1887
Breast-ovarian cancer, familial 2 1884
Gastrointestinal stromal tumor 1809
Nemaline myopathy 2 1700
Charcot-Marie-Tooth disease type 4 1616
Familial hypercholesterolemia 1588
Baller-Gerold syndrome 1573
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 1541
Catecholaminergic polymorphic ventricular tachycardia 1483
Colorectal cancer 10 1482
Leigh syndrome 1481
Brugada syndrome 1466
Charcot-Marie-Tooth disease, type 2 1453
Limb-girdle muscular dystrophy, type 2J 1446
Myopathy, early-onset, with fatal cardiomyopathy 1446
Epidermolysis bullosa simplex with 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 1424
Familial cancer of breast; Fanconi anemia, complementation group J 1407
Dilated cardiomyopathy 1G 1401
Neuroblastoma 3 1377
Gorlin syndrome 1328
Epileptic encephalopathy 1281
Bethlem myopathy 1 1277
Rhabdoid tumor predisposition syndrome 2 1272
Retinal dystrophy 1220
Breast-ovarian cancer, familial 1 1196
Hereditary diffuse gastric cancer 1150
Werner syndrome 1131
none provided 1123
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 1122
Oligodontia-colorectal cancer syndrome 1106
RYR1-Related Disorders 1103
Bloom syndrome 1075
History of neurodevelopmental disorder 1053
Microcephaly, normal intelligence and immunodeficiency 1005
Tuberous sclerosis 1 1005
Bardet-Biedl syndrome 1004
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 955
Cohen syndrome 954
Spastic paraplegia 910
Alstrom syndrome 893
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 874
Nephronophthisis 869
Duchenne muscular dystrophy 841
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 839
Primary dilated cardiomyopathy 839
Arrhythmia 834
Familial hypercholesterolemia 1 822
Multiple endocrine neoplasia, type 2 819
Malignant tumor of breast 809
Ehlers-Danlos syndrome, classic type 775
Li-Fraumeni syndrome 763
Prostate cancer, hereditary, 1 762
Perlman syndrome 757
Mitochondrial complex II deficiency; Paragangliomas 5 755
Rasopathy 751
Lynch syndrome 736
Spastic paraplegia 11, autosomal recessive 732
Neuronal ceroid lipofuscinosis 729
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 728
MYH-associated polyposis 709
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 700
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 688
Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 683
Cystic fibrosis 658
Renal cell carcinoma 653
Peutz-Jeghers syndrome 647
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 646
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 642
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 637
Autosomal recessive polycystic kidney disease 636
Malignant tumor of prostate 633
Mitochondrial complex I deficiency, nuclear type 1 632
Dyskeratosis congenita 627
Intellectual disability 625
Hereditary melanoma 624
Chédiak-Higashi syndrome 616
Juvenile polyposis syndrome 615
Congenital contractural arachnodactyly 608
Early myoclonic encephalopathy 601
Bare lymphocyte syndrome 2 600
Seizures 590
EGFR-related lung cancer 583
Adams-Oliver syndrome 5 578
Glycogen storage disease, type II 578
Retinoblastoma 573
Usher syndrome type 1 555
Myopathy, myofibrillar, 9, with early respiratory failure 552
Qualitative or quantitative defects of dysferlin 545
Multiple endocrine neoplasia, type 1 544
Joubert syndrome; Meckel-Gruber syndrome 543
Charcot-Marie-Tooth disease, axonal, type 2O 542
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 541
Tibial muscular dystrophy 541
Fanconi anemia, complementation group O 538
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 538
Tumor susceptibility linked to germline BAP1 mutations 529
Laminin alpha 2-related dystrophy 527
Melanoma, cutaneous malignant, susceptibility to, 10 527
Myasthenic syndrome, congenital, 8 524
Dilated cardiomyopathy 1DD 521
Glycogen storage disease type III 520
Pitt-Hopkins-like syndrome 1 520
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 510
Early infantile epileptic encephalopathy 12 505
CHARGE association 501
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 498
Hereditary Paraganglioma-Pheochromocytoma Syndromes 496
Multiple fibrofolliculomas 491
PTEN hamartoma tumor syndrome 490
Pitt-Hopkins-like syndrome 2 483
Aortic aneurysm, familial thoracic 4 479
Immunodeficiency 26 with or without neurologic abnormalities 478
Progressive myoclonic epilepsy 473
Common variable immunodeficiency 8, with autoimmunity 465
Autosomal dominant nocturnal frontal lobe epilepsy 462
Neurofibromatosis, type 2 460
Joubert syndrome 456
Familial hypertrophic cardiomyopathy 14 452
Generalized juvenile polyposis/juvenile polyposis coli 450
Aortic aneurysm, familial thoracic 7 449
Non-ketotic hyperglycinemia 449
Progressive sclerosing poliodystrophy 447
Fanconi anemia, complementation group A 444
Familial hyperkalemic periodic paralysis 437
Primary familial hypertrophic cardiomyopathy 433
Marfan syndrome 432
Breast-ovarian cancer, familial 4 431
Familial platelet disorder with associated myeloid malignancy 429
Fumarase deficiency 425
Epilepsy, focal, with speech disorder and with or without mental retardation 424
Wilson disease 414
Very long chain acyl-CoA dehydrogenase deficiency 412
Saldino-Mainzer syndrome 407
Spinocerebellar ataxia, autosomal recessive 8 407
Dilated Cardiomyopathy, Dominant 399
Hereditary nonpolyposis colorectal cancer type 7 399
Romano-Ward syndrome 398
Charlevoix-Saguenay spastic ataxia 393
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 392
Limb-Girdle Muscular Dystrophy, Recessive 385
Arrhythmogenic right ventricular dysplasia 9 380
Epileptic encephalopathy, early infantile, 23 380
Alport syndrome 375
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 371
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 365
Ciliary dyskinesia, primary, 3 362
Dilated cardiomyopathy 1KK 361
Malignant hyperthermia, susceptibility to, 1 361
Charcot-Marie-Tooth disease, type 4C 358
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 357
Weill-Marchesani syndrome 351
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 349
Brugada syndrome 8 347
Renal cell carcinoma, papillary, 1 347
Ellis-van Creveld syndrome 344
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 344
Walker-Warburg congenital muscular dystrophy 343
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 342
Arrhythmogenic right ventricular cardiomyopathy, type 10 341
Beckwith-Wiedemann syndrome 339
Encephalopathy, acute, infection-induced, 3, suceptibility to 339
Familial Mediterranean fever 338
Lethal Kniest-like syndrome 336
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 336
Limb-girdle muscular dystrophy, type 2A 335
Schwartz-Jampel syndrome 334
Usher syndrome, type 2C 334
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 333
Maple syrup urine disease 331
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 330
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 329
Disorders of Intracellular Cobalamin Metabolism 328
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 324
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 323
Deafness, autosomal recessive 12 322
Usher syndrome, type 2A 322
Dilated cardiomyopathy 1W 320
Familial focal epilepsy with variable foci 319
Rigidity and multifocal seizure syndrome, lethal neonatal 319
Spastic paraplegia 48, autosomal recessive 319
Microcephalic osteodysplastic primordial dwarfism type II 318
Fraser syndrome 1 316
Growth delay due to insulin-like growth factor I resistance 316
Hyperphosphatasia with mental retardation syndrome 2 316
Parathyroid carcinoma 315
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 313
Charcot-Marie-Tooth disease, type I 311
Familial dysautonomia 311
Mononeuropathy of the median nerve, mild 310
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 308
Mitochondrial complex IV deficiency 307
Acute myeloid leukemia 305
Arrhythmogenic right ventricular cardiomyopathy, type 11 305
Ehlers-Danlos syndrome dermatosparaxis type 305
Familial cold autoinflammatory syndrome 2 305
Myopathy, proximal, and ophthalmoplegia 305
Familial hemophagocytic lymphohistiocytosis 3 304
Immunodeficiency 51 302
Lethal multiple pterygium syndrome 302
Vici syndrome 302
Ehlers-Danlos syndrome, type 4 300
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 299
Jeune thoracic dystrophy 299
Leber congenital amaurosis 297
Lynch syndrome I 294
Deafness, autosomal recessive 77 293
Gorlin syndrome; Medulloblastoma 292
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 291
Hearing impairment 291
Retinitis Pigmentosa, Recessive 291
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 291
Usher syndrome type 1D 288
Minicore myopathy with external ophthalmoplegia 287
Deafness, autosomal recessive 3 285
Progressive familial heart block type IB 285
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 282
Myofibrillar myopathy, ZASP-related 282
Dilated cardiomyopathy 1O 279
Kleefstra syndrome 1 279
Dilated cardiomyopathy 1JJ 278
Ataxia-telangiectasia-like disorder 277
Idiopathic generalized epilepsy 277
Glucose-6-phosphate transport defect 273
Usher syndrome type 1F 273
Central core myopathy 272
Giant axonal neuropathy 1 272
Hereditary spastic paraplegia 39 272
Wilms tumor 1 271
Donnai-Barrow syndrome 269
Familial hypertrophic cardiomyopathy 1 268
Hereditary insensitivity to pain with anhidrosis 268
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 266
Age-related macular degeneration 1 265
Parkinson disease 8, autosomal dominant 265
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 265
Hereditary nonpolyposis colorectal cancer type 5 264
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 263
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 263
Hereditary sensory neuropathy type IE 262
Majeed syndrome 262
Charcot-Marie-Tooth disease, dominant intermediate B 260
Left ventricular noncompaction 8 260
Developmental and epileptic encephalopathy 94 258
Arrhythmogenic right ventricular cardiomyopathy 257
Immunodeficiency 35 256
Charcot-Marie-Tooth disease axonal type 2C 255
Congenital disorder of glycosylation 255
Emery-Dreifuss muscular dystrophy 254
Pyridoxine-dependent epilepsy 254
Microcephaly 253
Luscan-lumish syndrome 252
Autosomal dominant cerebellar ataxia 251
Multiple endocrine neoplasia, type 4 251
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 251
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 251
Primary autosomal recessive microcephaly 5 249
Pheochromocytoma 248
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 247
Renal carnitine transport defect 247
Ductal breast carcinoma 245
Propionic acidemia 244
Carcinoma of colon 243
Hypobetalipoproteinemia, familial, 1 242
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 240
Congenital microvillous atrophy 240
Nephronophthisis 15 240
Noonan syndrome 240
Benign familial neonatal seizures 239
Fraser syndrome 2 238
Histiocytic medullary reticulosis 237
Early infantile epileptic encephalopathy 9 235
Bare lymphocyte syndrome type 1 234
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 233
Corneal dystrophy 232
Ehlers-Danlos syndrome, hydroxylysine-deficient 232
Usher syndrome, type 2A; Retinitis pigmentosa 39 231
Phenylketonuria 230
Renal dysplasia 230
Mental retardation, autosomal dominant 1 228
Congenital myasthenic syndrome 227
Leukocyte adhesion deficiency 1 227
Niemann-Pick disease type C1 227
Weill-Marchesani syndrome 4 227
Dystrophic epidermolysis bullosa 226
Monogenic diabetes 226
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 225
Charcot-Marie-Tooth disease type 2P 224
Imerslund-Gräsbeck syndrome 1 224
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 224
Brittle cornea syndrome 1 222
Pityriasis rubra pilaris; Psoriasis susceptibility 2 222
Congenital hyperammonemia, type I 221
Hereditary pancreatitis 221
Dystonia 220
Mucopolysaccharidosis type 6 220
Alpha thalassemia-X-linked intellectual disability syndrome 219
Iodotyrosyl coupling defect 219
Succinate-semialdehyde dehydrogenase deficiency 219
Deafness, autosomal recessive 2 218
Hereditary pyropoikilocytosis 218
Metachromatic leukodystrophy 218
Multiple congenital anomalies-hypotonia-seizures syndrome 1 218
Epidermolysis bullosa junctionalis with pyloric atresia 217
Familial cold autoinflammatory syndrome 3 216
Epidermodysplasia verruciformis 214
Pendred syndrome 213
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 211
Short-rib thoracic dysplasia 3 with or without polydactyly 211
Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 210
Junctional epidermolysis bullosa 210
Arrhythmogenic right ventricular dysplasia, familial, 2 209
Congenital muscular dystrophy due to partial LAMA2 deficiency 209
Multiple gastrointestinal atresias 207
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 207
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 206
Blau syndrome; Inflammatory bowel disease 1 205
Koolen-de Vries syndrome 205
Combined oxidative phosphorylation deficiency 27 204
Carney complex, type 1 203
Familial hypercholesterolemia 2 203
Gastrointestinal stromal tumor; Paragangliomas 3 201
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 201
Spherocytosis type 3 201
Classic homocystinuria 200
Fanconi anemia, complementation group P 200
Polycystic kidney disease, adult type 200
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 200
Autosomal recessive limb-girdle muscular dystrophy type 2B 199
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 199
Familial hemiplegic migraine 199
Collagen VI-related myopathy 198
Meningioma, familial 198
Mental retardation, autosomal recessive 53 198
Netherton syndrome 198
Usher syndrome, type 1B 198
3-Methylglutaconic aciduria type 3 197
Choreoacanthocytosis 197
Von Hippel-Lindau syndrome 197
Epilepsy, hearing loss, and mental retardation syndrome 196
Pancreatic adenocarcinoma 195
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 195
Deficiency of alpha-mannosidase 194
Catecholaminergic polymorphic ventricular tachycardia type 1 192
Hereditary spastic paraplegia 15 192
Multiple acyl-CoA dehydrogenase deficiency 192
Arrhythmogenic right ventricular dysplasia, familial, 13 191
Brody myopathy 191
Congenital Muscular Dystrophy, alpha-dystroglycan related 191
Osteogenesis imperfecta type 7 191
Osteogenesis imperfecta type I 191
Common variable immunodeficiency 7 189
Hereditary sensory and autonomic neuropathy type IC 189
Loeys-Dietz syndrome 189
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 189
Mosaic variegated aneuploidy syndrome 188
Glycogen storage disease of heart, lethal congenital 187
Cutaneous malignant melanoma 5 186
Myopathy, centronuclear, 2 186
Progressive myoclonus epilepsy with ataxia 186
Brugada syndrome 1 185
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 185
Charcot-Marie-Tooth disease, axonal, type 2z 185
Immunodeficiency 40 185
Leukoencephalopathy with vanishing white matter 185
Mowat-Wilson syndrome 185
Nephronophthisis 14 185
Surfactant metabolism dysfunction, pulmonary, 3 185
Adrenoleukodystrophy 184
Dilated cardiomyopathy 1J 184
Loeys-Dietz syndrome 4 184
Microphthalmia, isolated 5 184
Severe combined immunodeficiency due to DCLRE1C deficiency 184
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 183
Peroxisome biogenesis disorder 1A (Zellweger) 183
Cardiac arrhythmia, ankyrin B-related 182
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 182
Galactosylceramide beta-galactosidase deficiency 182
Herpes simplex encephalitis 1 182
Pitt-Hopkins syndrome 182
Arrhythmogenic right ventricular cardiomyopathy, type 5 181
Autosomal recessive osteopetrosis 1 180
Cardiomyopathy, left ventricular noncompaction 180
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 180
Epilepsy 180
Fanconi anemia, complementation group C 180
Fanconi anemia, complementation group J 180
Tuberous sclerosis syndrome 180
Epilepsy, familial focal, with variable foci 3 179
Gamma-aminobutyric acid transaminase deficiency 179
Junctional epidermolysis bullosa gravis of Herlitz 179
Stüve-Wiedemann syndrome 179
Ataxia-telangiectasia-like disorder 1 178
Carnitine palmitoyltransferase II deficiency 178
Early infantile epileptic encephalopathy 34 178
Lig4 syndrome 178
Deafness, autosomal recessive 9 177
Hermansky-Pudlak syndrome 2 177
Neutral lipid storage myopathy 177
Spastic paraplegia 30, autosomal recessive 177
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 177
Epileptic encephalopathy, early infantile, 30 176
Polyglandular autoimmune syndrome, type 1 176
Spherocytosis 176
Glaucoma 3, primary congenital, d 175
Gray platelet syndrome 175
Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 175
Oculotrichoanal syndrome 175
Agenesis of the corpus callosum with peripheral neuropathy 174
Legius syndrome 174
Limb-girdle muscular dystrophy, type 2S 174
Sotos syndrome 1 174
Anauxetic dysplasia 173
Congenital myasthenic syndrome 12 173
Cone-rod dystrophy 6; Leber congenital amaurosis 1 172
Mental retardation, autosomal dominant 5 172
Neuronal ceroid lipofuscinosis 7 172
Polycystic kidney disease 172
Thyroid dyshormonogenesis 6 172
Amelocerebrohypohidrotic syndrome 171
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 171
Dystonia 12 171
Fibrous dysplasia of jaw 170
Glycogen storage disease 0, muscle 170
Spondyloepiphyseal dysplasia with congenital joint dislocations 170
Diabetes mellitus, neonatal, with congenital hypothyroidism 169
Dilated Cardiomyopathy, Recessive 169
Spherocytosis type 1 169
Thrombophilia due to thrombin defect 169
Zellweger syndrome 169
Cone-rod dystrophy 13; Leber congenital amaurosis 6 168
Craniosynostosis syndrome 168
FLNB-Related Spectrum Disorders 168
Glanzmann thrombasthenia 168
Primary pulmonary hypertension 1 168
Alagille syndrome 1 167
Arterial tortuosity syndrome 167
Holocarboxylase synthetase deficiency 166
Joubert syndrome 21 166
Adenylosuccinate lyase deficiency 165
Haddad syndrome 165
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 165
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 164
Imerslund-Gräsbeck syndrome 164
Kabuki syndrome 1 164
Miyoshi myopathy 164
Biotin-responsive basal ganglia disease 163
Congenital disorder of deglycosylation 163
Dyskeratosis congenita, autosomal dominant 1 162
Focal cortical dysplasia type II 162
Shprintzen-Goldberg syndrome 162
Tangier disease 162
Familial hypokalemia-hypomagnesemia 161
Glycogen storage disease, type V 161
Holoprosencephaly sequence 160
Autosomal recessive DOPA responsive dystonia 159
Hereditary hemorrhagic telangiectasia 159
Hyperinsulinemic hypoglycemia, familial, 1 159
Autosomal recessive retinitis pigmentosa 158
Cowden syndrome 158
Deafness, autosomal dominant 11 158
Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 158
Nonsyndromic Hearing Loss, Recessive 158
Norman-Roberts syndrome 158
Episodic ataxia type 1 157
Familial hemophagocytic lymphohistiocytosis 2 157
Hennekam lymphangiectasia-lymphedema syndrome 1 157
Joubert syndrome 17 157
Acrocallosal syndrome 156
Cornelia de Lange syndrome 1 156
Epileptic encephalopathy, early infantile, 36 156
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 156
Peroxisomal acyl-CoA oxidase deficiency 156
Xeroderma pigmentosum variant type 156
Factor V deficiency 155
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 155
Lynch syndrome II 155
Dilated cardiomyopathy 3B 154
Hemophagocytic lymphohistiocytosis, familial, 5 154
Irido-corneo-trabecular dysgenesis 154
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 154
Smith-Lemli-Opitz syndrome 154
ABCA4-Related Disorders 153
Achondrogenesis, type IA 153
Congenital disorder of glycosylation type 1M 153
Congenital muscular hypertrophy-cerebral syndrome 153
Retinitis pigmentosa 12; Leber congenital amaurosis 8 153
Aortic valve disease 2 152
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 152
Atrial fibrillation, familial, 7 152
Budd-Chiari syndrome 152
Familial infantile myasthenia 152
Hereditary nonpolyposis colorectal cancer type 4 152
Insulin-resistant diabetes mellitus AND acanthosis nigricans 152
Joubert syndrome 15 152
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 152
Autosomal dominant pseudohypoaldosteronism type 1 151
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 151
Leprechaunism syndrome 151
Loeys-Dietz syndrome 2 151
Mucopolysaccharidosis, MPS-III-A 151
Qualitative or quantitative defects of delta-sarcoglycan 151
Epileptic encephalopathy, early infantile, 25 150
Molybdenum cofactor deficiency, complementation group A 150
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Myasthenic syndrome, congenital, 17 149
Fanconi anemia, complementation group E 149
Immunodeficiency 30 149
Pineal hyperplasia AND diabetes mellitus syndrome 149
Pseudoxanthoma elasticum 149
Candidiasis, familial, 2 148
Congenital myasthenic syndrome, acetazolamide-responsive 148
Deficiency of butyryl-CoA dehydrogenase 148
Distal hereditary motor neuronopathy 2D 148
Heterotaxy, visceral, 4, autosomal 148
Autosomal recessive pseudohypoaldosteronism type 1 147
Breast and/or ovarian cancer 147
Deafness, autosomal recessive 37 147
Epidermolysis bullosa dystrophica inversa, autosomal recessive 147
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 147
Myhre syndrome 147
Ehlers-Danlos syndrome, type 7A 146
Epilepsy, progressive myoclonic 3 146
Paroxysmal familial ventricular fibrillation 1 146
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 146
EAST syndrome 145
Elliptocytosis 2 145
Epilepsy, familial adult myoclonic, 5 145
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 145
Congenital myopathy with fiber type disproportion 144
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 144
Hereditary hemorrhagic telangiectasia type 1 144
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 144
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 144
Breast neoplasm 143
Costello syndrome 143
GLUT1 deficiency syndrome 1, autosomal recessive 143
Osteogenesis imperfecta 143
Severe myoclonic epilepsy in infancy 143
Spastic paraplegia 4, autosomal dominant 143
Knobloch syndrome 1 142
Permanent neonatal diabetes mellitus 142
Three M syndrome 2 142
Cystinuria 141
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 141
Pontoneocerebellar hypoplasia 141
Progressive familial heart block, type 1A 141
Deafness, autosomal dominant 4 140
Hereditary spastic paraplegia 7 140
Mucolipidosis type II 140
Schimke immuno-osseous dysplasia 140
Vitamin B12-responsive methylmalonic acidemia type cblA 140
Anophthalmia-microphthalmia syndrome 139
Arrhythmogenic right ventricular dysplasia 8 139
Nemaline myopathy 6 139
Neuroblastoma 139
Lymphoproliferative syndrome 1 138
Neural tube defect 138
Posterior column ataxia-retinitis pigmentosa syndrome 138
Autoinflammation with infantile enterocolitis; Familial cold autoinflammatory syndrome 4 137
Multiple epiphyseal dysplasia type 4 137
Myopathy, centronuclear, 4 137
Benign familial neonatal seizures 2 136
Cataract 18 136
FG syndrome 1 136
Familial hypercholesterolemia 3 136
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 136
Myoclonic epilepsy, familial infantile 136
Endplate acetylcholinesterase deficiency 135
Leber congenital amaurosis 4 135
Macular corneal dystrophy 135
Osteogenesis imperfecta type 8 135
Rett syndrome 135
Rotor syndrome 135
Vitamin K-dependent clotting factors, combined deficiency of, 1 135
Autosomal recessive congenital ichthyosis 1 134
Candidiasis, familial, 9 134
Citrullinemia type I 134
Juvenile myoclonic epilepsy; Typical absence seizures 134
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 134
Tay-Sachs disease 134
Autoimmune lymphoproliferative syndrome 133
Cerebrooculofacioskeletal syndrome 1 133
Congenital disorder of glycosylation, type Ia 133
Dilated cardiomyopathy 1E 133
Epilepsy, progressive myoclonic, 10 133
Heterotopia, periventricular, autosomal recessive 133
Nemaline myopathy 8 133
Renal hypodysplasia/aplasia 1 133
Brown-Vialetto-Van Laere syndrome 2 132
Familial hemophagocytic lymphohistiocytosis 4 132
Frank-Ter Haar syndrome 132
Medium-chain acyl-coenzyme A dehydrogenase deficiency 132
Mucopolysaccharidosis type 1 132
Peroxisome biogenesis disorder 11A 132
Pitt-Hopkins-like syndrome 132
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 132
Brugada syndrome 4 131
Deafness, autosomal recessive 21 131
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 131
GM3 synthase deficiency 131
Hereditary xanthinuria type 1 131
Hermansky-Pudlak syndrome 131
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 131
Neuromuscular disease, congenital, with uniform type 1 fiber 131
Spastic paraplegia 49, autosomal recessive 131
Cleft lip/palate-ectodermal dysplasia syndrome 130
Congenital disorder of glycosylation type 2i 130
Immunodeficiency 130
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 130
Myasthenic syndrome, congenital, 22 130
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 130
Wolff-Parkinson-White pattern 130
Combined oxidative phosphorylation deficiency 14 129
Fibrochondrogenesis 1 129
Joubert syndrome 14 129
Lethal acantholytic epidermolysis bullosa 129
Long QT syndrome 3 129
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 129
Usher syndrome, type 3B 129
WFS1-Related Spectrum Disorders 129
Charcot-Marie-Tooth disease, dominant intermediate C 128
Desbuquois dysplasia 1 128
Epilepsy, progressive myoclonic, 9; Lipodystrophy, partial, acquired, susceptibility to 128
Inflammatory bowel disease 28, autosomal recessive 128
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 128
Cockayne syndrome B 127
Congenital disorder of glycosylation type 2B 127
Danon disease 127
Myoclonic dystonia 11 127
Erythrocytosis, familial, 3 126
Familial hypertrophic cardiomyopathy 4 126
Macular degeneration 126
Mental retardation, X-linked 1 126
Mucopolysaccharidosis, MPS-III-C 126
Neuronal ceroid lipofuscinosis 1 126
Occult macular dystrophy 126
Primary autosomal recessive microcephaly 3 126
Sucrase-isomaltase deficiency 126
Thrombophilia due to factor V Leiden 126
3-methylcrotonyl CoA carboxylase 2 deficiency 125
Congenital ichthyosis of skin 125
GNE myopathy 125
Infantile cortical hyperostosis 125
Stargardt disease 1 125
Cenani-Lenz syndactyly syndrome 124
Cowden syndrome 6 124
Hypogonadotropic hypogonadism 5 with or without anosmia 124
Nephrotic syndrome, type 3 124
Osteopetrosis 124
Telangiectasia, hereditary hemorrhagic, type 2 124
Angelman syndrome 123
Biotinidase deficiency 123
Congenital stationary night blindness, type 1E 123
Mosaic variegated aneuploidy syndrome 2 123
Osteochondrodysplasia 123
Severe neonatal-onset encephalopathy with microcephaly 123
Sitosterolemia 1 123
Vitamin B12-responsive methylmalonic acidemia type cblB 123
Atrioventricular septal defect 4 122
Cone-rod dystrophy 15 122
Fabry disease 122
Hyperglycinuria 122
Sick sinus syndrome 1, autosomal recessive 122
3 Methylcrotonyl-CoA carboxylase 1 deficiency 121
Charcot-Marie-Tooth disease type 2E 121
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 121
Fanconi anemia, complementation group I 121
Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 121
Pyruvate carboxylase deficiency 121
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 121
Brugada syndrome 5 120
Deafness, autosomal recessive 2; Usher syndrome type 1 120
Multiple endocrine neoplasia, type 2a 120
Myopathy, congenital, compton-north 120
Nephronophthisis 4 120
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 119
Primary autosomal recessive microcephaly 2 119
Chondrodysplasia with joint dislocations, GPAPP type 118
Deficiency of 2-methylbutyryl-CoA dehydrogenase 118
Hepatic veno-occlusive disease-immunodeficiency syndrome 118
Immunodeficiency 14 118
Isovaleryl-CoA dehydrogenase deficiency 118
Leber congenital amaurosis 10 118
DiGeorge Syndrome 117
Meckel syndrome, type 4 117
Nephropathic cystinosis 117
Paroxysmal kinesigenic dyskinesia 117
Transcolabamin II deficiency 117
Charcot-Marie-Tooth disease, type 4B2 116
Holt-Oram syndrome 116
Immunodeficiency 39 116
Myoclonic-atonic epilepsy 116
Noonan syndrome 4 116
Autosomal dominant nonsyndromic deafness 17 115
Diastrophic dysplasia 115
Geleophysic dysplasia 1 115
Hereditary sensory neuropathy type IF 115
Holoprosencephaly 11 115
Joubert syndrome 5 115
Loeys-Dietz syndrome 1 115
Meckel syndrome, type 5 115
Charcot-Marie-Tooth Neuropathy X 114
Lafora disease 114
Lysinuric protein intolerance 114
Nail-patella syndrome 114
Orotic aciduria 114
Bardet-Biedl syndrome 14 113
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 113
Eichsfeld type congenital muscular dystrophy 113
Epilepsy, familial focal, with variable foci 1 113
Epileptic encephalopathy, early infantile, 37 113
Fanconi anemia, complementation group D1 113
Glutaric aciduria, type 1 113
Hypomyelinating leukodystrophy 7 113
Noonan syndrome 9 113
Optic atrophy 3 113
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 113
Achondrogenesis, type IB 112
Connective tissue disease 112
Deafness, autosomal recessive 30 112
Familial hypoalphalipoproteinemia 112
Glycogen storage disease IXb 112
Leber congenital amaurosis 12 112
Leukocyte adhesion deficiency type II 112
Nemaline myopathy 10 112
Primary autosomal recessive microcephaly 1 112
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 111
Achromatopsia 111
Acromicric dysplasia 111
Afibrinogenemia, congenital 111
Arterial calcification, generalized, of infancy, 1 111
Autoimmune interstitial lung, joint, and kidney disease 111
Brown-Vialetto-Van Laere syndrome 1 111
CFTR-related disorders 111
Cranioectodermal dysplasia 2 111
Cryopyrin associated periodic syndrome 111
Facioscapulohumeral muscular dystrophy 2 111
Familial hypertrophic cardiomyopathy 10 111
Histiocytosis-lymphadenopathy plus syndrome 111
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 111
Indifference to pain, congenital, autosomal recessive 111
Amelogenesis imperfecta, hypomaturation type, IIA3 110
Amyotrophic lateral sclerosis type 4 110
Deafness, autosomal recessive 31 110
Deficiency of ferroxidase 110
Hypomagnesemia 1, intestinal 110
Myasthenic syndrome, congenital, 4a, slow-channel 110
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 110
von Willebrand disorder 110
APC-Associated Polyposis Disorders 109
Aicardi Goutieres syndrome 5 109
Café-au-lait macules with pulmonary stenosis 109
Cholestasis, progressive familial intrahepatic 1 109
Congenital dyserythropoietic anemia, type I 109
Congenital nephrotic syndrome 109
Distal arthrogryposis type 2B 109
Distal spinal muscular atrophy 109
Dyskeratosis congenita, autosomal dominant 6 109
Hereditary spastic paraplegia 6 109
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 109
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 109
Nephronophthisis-like nephropathy 1 109
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 109
Senior-Loken syndrome 4 109
Stiff skin syndrome 109
Supravalvar aortic stenosis 109
Bietti crystalline corneoretinal dystrophy 108
Cerebral creatine deficiency syndrome 108
Epidermolysis bullosa simplex due to plakophilin deficiency 108
Muscular dystrophy, limb-girdle, type 2y 108
Orthostatic hypotension 1 108
Short-rib thoracic dysplasia 7 with or without polydactyly 108
Autism spectrum disorder 107
Congenital disorder of glycosylation type 1N 107
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 107
Elliptocytosis 107
Junctional epidermolysis bullosa, non-Herlitz type 107
Neurofibromatosis, familial spinal 107
Primary autosomal recessive microcephaly 9 107
Charcot-Marie-Tooth disease, type 4H 106
Deafness, autosomal dominant 12 106
Dihydropyrimidine dehydrogenase deficiency 106
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 106
Neurodevelopmental disorder 106
Autosomal dominant nonsyndromic deafness 6 105
Autosomal recessive cutis laxa type 1B 105
Epilepsy, progressive myoclonic 5 105
Interleukin 2 receptor, alpha, deficiency of 105
Kabuki syndrome 105
Leber congenital amaurosis 3 105
Nemaline myopathy 1 105
Pyruvate dehydrogenase lipoic acid synthetase deficiency 105
Xeroderma pigmentosum, group C 105
Age-related macular degeneration 5 104
Alopecia universalis congenita 104
Arginine:glycine amidinotransferase deficiency 104
Atrichia with papular lesions 104
Cataract-intellectual disability-hypogonadism syndrome 104
Charcot-Marie-Tooth disease, demyelinating, type 4F 104
Ciliary dyskinesia, primary, 15 104
Ciliary dyskinesia, primary, 7 104
Hirschsprung disease 1 104
Joubert syndrome 7 104
Polyhydramnios, megalencephaly, and symptomatic epilepsy 104
Primary hyperoxaluria, type I 104
Short rib-polydactyly syndrome, Majewski type 104
Xeroderma pigmentosum, group F 104
Atelosteogenesis type II 103
Autosomal recessive limb-girdle muscular dystrophy type 2D 103
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 103
D-2-hydroxyglutaric aciduria 1 103
Deficiency of malonyl-CoA decarboxylase 103
Hereditary factor XI deficiency disease 103
Hyaline fibromatosis syndrome 103
Long QT syndrome 2 103
Merosin deficient congenital muscular dystrophy 103
Mucopolysaccharidosis, MPS-IV-A 103
Nephronophthisis 8 103
Neutropenia, severe congenital, 7, autosomal recessive 103
Pigmentary retinal dystrophy 103
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 103
Spherocytosis, Dominant 103
Stickler syndrome type 2 103
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1; Paget disease of bone 2, early-onset 102
Epileptic encephalopathy, early infantile, 26 102
Growth delay due to insulin-like growth factor type 1 deficiency 102
Lathosterolosis 102
Meckel syndrome type 6 102
Mucolipidosis type III gamma 102
Paroxysmal non-kinesigenic dyskinesia 102
Bardet-Biedl syndrome 1 101
Ceroid lipofuscinosis neuronal 2 101
Deficiency of pyrroline-5-carboxylate reductase 101
Infantile-onset ascending hereditary spastic paralysis 101
Joubert syndrome 9 101
Mental retardation, autosomal recessive 15 101
Methylmalonic acidemia 101
Mitochondrial trifunctional protein deficiency 101
Myosin storage myopathy 101
POLG-Related Spectrum Disorders 101
Seckel syndrome 1 101
Senior-Loken syndrome 6 101
TNF receptor-associated periodic fever syndrome (TRAPS) 101
Three M syndrome 1 101
Xanthinuria type II 101
Cholestanol storage disease 100
Glucocorticoid resistance, generalized 100
Hepatic methionine adenosyltransferase deficiency 100
Inflammatory skin and bowel disease, neonatal 1 100
Juvenile myoclonic epilepsy 100
Monogenic Non-Syndromic Obesity 100
Naxos disease 100
Retinal cone dystrophy 4 100
CEDNIK syndrome 99
Familial temporal lobe epilepsy 1 99
Kindler syndrome 99
Parkinson disease 2 99
Usher syndrome, type 2D 99
Autosomal dominant nonsyndromic deafness 22 98
Epilepsy, progressive myoclonic 7 98
Fukuyama congenital muscular dystrophy 98
Herpes simplex encephalitis, susceptibility to, 4 98
Megaconial type congenital muscular dystrophy 98
Primary hyperoxaluria, type III 98
Spondyloepiphyseal dysplasia congenita 98
Usher syndrome, type 1C 98
Vitamin D-dependent rickets type II with alopecia 98
Chondrocalcinosis 2 97
Cutis laxa with osteodystrophy 97
Dilated cardiomyopathy 1X 97
Glaucoma 3, primary congenital, A 97
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 97
Hypomyelination and Congenital Cataract 97
Laryngo-onycho-cutaneous syndrome 97
Ocular cystinosis 97
Polycystic kidney disease 2 97
Primary ciliary dyskinesia 23 97
Aortic aneurysm, familial thoracic 6 96
CDH23-Related Disorders 96
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 96
Congenital brain dysgenesis due to glutamine synthetase deficiency 96
Craniometaphyseal dysplasia, autosomal dominant 96
Deficiency of steroid 11-beta-monooxygenase 96
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 96
Hypophosphatemic rickets, autosomal recessive, 2 96
Long QT syndrome 1 96
Metaphyseal chondrodysplasia, McKusick type 96
Natural killer cell and glucocorticoid deficiency with DNA repair defect 96
Neurofibromatosis-Noonan syndrome 96
Peroxisome biogenesis disorder 2B 96
Polyarteritis nodosa, childhoood-onset 96
Polymicrogyria, bilateral frontoparietal 96
Rhizomelic chondrodysplasia punctata type 3 96
Severe combined immunodeficiency due to ADA deficiency 96
Carnitine palmitoyltransferase 1A deficiency 95
Combined oxidative phosphorylation deficiency 8 95
Congenital stationary night blindness, type 1C 95
Hyperaldosteronism, familial, type I 95
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 95
Mental retardation, autosomal dominant 7 95
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 95
Neuropathy, hereditary motor and sensory, type 6B 95
Spinal muscular atrophy, X-linked 2 95
Autosomal recessive cerebellar ataxia 94
Cerebellar ataxia, Cayman type 94
Common variable immunodeficiency 2 94
Deafness, autosomal recessive 1A 94
Deficiency of acetyl-CoA acetyltransferase 94
Dubin-Johnson syndrome 94
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 94
Fanconi anemia, complementation group D2 94
Hereditary spastic paraplegia 3A 94
Infantile spasms 94
Larsen syndrome 94
Multiple exostoses type 2 94
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 94
NIK deficiency 94
Nephronophthisis 12 94
Primary autosomal recessive microcephaly 6 94
Pyridoxal phosphate-responsive seizures 94
heterogeneous nuclear ribonucleoprotein G, human 94
Aicardi Goutieres syndrome 4 93
Alport syndrome, autosomal recessive 93
Cardiomyopathy, dilated, 1u 93
Familial hypercholesterolemia 4 93
Familial hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 93
Hereditary hyperinsulinism 93
Hypogonadotropic hypogonadism 2 with or without anosmia 93
Primary autosomal recessive microcephaly 4 93
Retinitis Pigmentosa, Dominant 93
Skeletal dysplasia 93
Spastic paraplegia 31, autosomal dominant 93
Tourette syndrome 93
Adult proximal spinal muscular atrophy, autosomal dominant 92
Argininosuccinate lyase deficiency 92
Charcot-Marie-Tooth disease, type 4A 92
Congenital defect of folate absorption 92
Finnish congenital nephrotic syndrome 92
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 92
Leber congenital amaurosis 5 92
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 92
Megalencephalic leukoencephalopathy with subcortical cysts 1 92
Mitochondrial complex I deficiency 92
Mucopolysaccharidosis, MPS-III-B 92
Multiple endocrine neoplasia 92
Partial albinism 92
Peroxisome biogenesis disorder 5a (zellweger) 92
Progressive familial intrahepatic cholestasis 2 92
Spinal muscular atrophy, distal, autosomal recessive, 1 92
Amyotrophic lateral sclerosis type 8 91
Caudal regression sequence 91
Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 91
Dicarboxylic aminoaciduria 91
Ectopia lentis 2, isolated, autosomal recessive 91
Fibrochondrogenesis 2 91
Griscelli syndrome type 2 91
Hyper-IgM syndrome type 5 91
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 91
Pierson syndrome 91
Triglyceride storage disease with ichthyosis 91
ANO5-Related Muscle Diseases 90
Amyotrophic lateral sclerosis 21 90
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 90
Combined oxidative phosphorylation deficiency 17 90
Hereditary acrodermatitis enteropathica 90
Histidinemia 90
IL21R immunodeficiency 90
Multiple congenital exostosis 90
Myoglobinuria, acute recurrent, autosomal recessive 90
Upshaw-Schulman syndrome 90
Autoimmune lymphoproliferative syndrome, type III 89
Charcot-Marie-Tooth disease, axonal, type 2R 89
Deficiency of iodide peroxidase 89
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 89
Epilepsy, progressive myoclonic 8 89
Epileptic encephalopathy, early infantile, 31 89
Erythrocyte AMP deaminase deficiency 89
Holoprosencephaly 7 89
Hypohidrotic ectodermal dysplasia 89
Limb-girdle muscular dystrophy, type 1E 89
Nephronophthisis 18 89
Peroxisome biogenesis disorder 12A 89
Polyglucosan body myopathy 1 with or without immunodeficiency 89
Thyroid hormone resistance, generalized, autosomal dominant 89
Tyrosinemia type I 89
Atrioventricular septal defect 5 88
Bardet-Biedl syndrome 10 88
Common variable immunodeficiency 10 88
Dilated cardiomyopathy 1AA 88
EEM syndrome 88
Gingival fibromatosis 1 88
Hecht syndrome 88
Joubert syndrome 3 88
Kufor-Rakeb syndrome 88
Li-Fraumeni syndrome 1 88
Nephrotic syndrome, type 5, with or without ocular abnormalities 88
Platelet-type bleeding disorder 9 88
Sandhoff disease 88
Andersen Tawil syndrome 87
Behavior disorder 87
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 87
Ciliary dyskinesia, primary, 28 87
Congenital glucose-galactose malabsorption 87
Cranioectodermal dysplasia 1 87
Dilated cardiomyopathy 1A 87
Disseminated atypical mycobacterial infection 87
Encephalopathy, familial, with neuroserpin inclusion bodies 87
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 87
Isolated sulfite oxidase deficiency 87
Neurodegeneration with brain iron accumulation 4 87
Abnormal bleeding; Thrombocytopenia 86
Alpha-1-antitrypsin deficiency 86
Asphyxiating thoracic dystrophy 4 86
Charcot-Marie-Tooth disease axonal type 2F 86
Epilepsy, juvenile myoclonic 5 86
Generalized epilepsy with febrile seizures plus, type 2 86
Hereditary sensory and autonomic neuropathy type 1 86
Hermansky-Pudlak syndrome 4 86
Hyperlipoproteinemia, type I 86
Leukocyte adhesion deficiency, type III 86
Obesity 86
Retinitis pigmentosa 25 86
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 86
ALS2-Related Disorders 85
Achromatopsia 3 85
Autoimmune lymphoproliferative syndrome, type 2A; Autoimmune lymphoproliferative syndrome type 2 85
Autosomal recessive omodysplasia 85
Chitotriosidase deficiency 85
Congenital central hypoventilation 85
Congenital lactase deficiency 85
Epilepsy, childhood absence 2; Familial febrile seizures 8 85
Greig cephalopolysyndactyly syndrome 85
Hydatidiform mole, recurrent, 1 85
Mucolipidosis type IV 85
Polydactyly 85
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 85
ALG9 congenital disorder of glycosylation 84
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 84
Hemolytic anemia 84
Nephronophthisis 9 84
Nephrotic syndrome, type 4 84
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 84
Ornithine aminotransferase deficiency 84
Otospondylomegaepiphyseal dysplasia, autosomal recessive 84
Warburg micro syndrome 2 84
Arrhythmogenic right ventricular cardiomyopathy, type 12 83
Atrial fibrillation, familial, 9 83
Bardet-Biedl syndrome 2 83
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 83
Deafness, autosomal dominant 1 83
Mental retardation, autosomal recessive 1 83
Neuronal ceroid lipofuscinosis 4B 83
Neuropathy, hereditary sensory and autonomic, type VI 83
Peroxisome biogenesis disorder 2A (Zellweger) 83
Peroxisome biogenesis disorder 7A 83
Platelet glycoprotein IV deficiency 83
Premature ovarian failure 83
Primary autosomal recessive microcephaly 7 83
Pseudohypoaldosteronism type 2C 83
Aspartylglucosaminuria 82
Charcot-Marie-Tooth disease, type 1C 82
Dilated cardiomyopathy 1S 82
Hypothyroidism, congenital, nongoitrous, 2 82
Lissencephaly 4 82
Loeys-Dietz syndrome 3 82
MYH9-related disorder 82
Myofibrillar myopathy 3 82
Retinal macular dystrophy type 2 82
Rubinstein-Taybi syndrome 1 82
Xeroderma pigmentosum, group D 82
ZAP70-Related Severe Combined Immunodeficiency 82
Amyotrophic lateral sclerosis type 2 81
Atrial septal defect 7 with or without atrioventricular conduction defects 81
Complement component 3 deficiency, autosomal recessive 81
Cone-rod dystrophy 5 81
Congenital stationary night blindness, type 1D 81
Deficiency of isobutyryl-CoA dehydrogenase 81
GNE myopathy; Sialuria 81
Hyperphosphatemic familial tumoral calcinosis 3 81
Niemann-Pick disease, type A 81
Pontocerebellar hypoplasia type 1 81
Pseudo-Hurler polydystrophy 81
Aromatase deficiency 80
Carpenter syndrome 2 80
Diaphanospondylodysostosis 80
Ectopia lentis, isolated, autosomal dominant 80
Epilepsy, childhood absence 1; Epilepsy, childhood absence 5 80
Febrile seizures, familial, 11 80
Gaze palsy, familial horizontal, with progressive scoliosis 1 80
Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 80
Immunodeficiency 44 80
Lissencephaly, Recessive 80
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 80
Maturity onset diabetes mellitus in young 80
Parkinson disease 6, autosomal recessive early-onset 80
Robinow syndrome, autosomal recessive 80
Troyer syndrome 80
Wagner syndrome 80
Ciliary dyskinesia, primary, 14 79
Deafness, autosomal recessive 24 79
Distal spinal muscular atrophy, autosomal recessive 4 79
Ellis-van Creveld syndrome; Curry-Hall syndrome 79
Familial colorectal cancer 79
Hemochromatosis type 3 79
Nemaline myopathy 3 79
Parkinson Disease, Dominant 79
Seizures, benign familial infantile, 3 79
Spherocytosis type 4 79
Xeroderma pigmentosum, group G 79
Aicardi Goutieres syndrome 3 78
Alzheimer disease, type 3 78
Charcot-Marie-Tooth disease, type 4D 78
Combined deficiency of factor V and factor VIII, 1 78
Cylindromatosis, familial 78
Emery-Dreifuss muscular dystrophy 1, X-linked 78
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 78
Familial cancer of breast; Ataxia-telangiectasia syndrome 78
Growth retardation, developmental delay, coarse facies, and early death 78
Hypogonadotropic hypogonadism 7 with or without anosmia 78
Inflammatory bowel disease 1 78
Lethal tight skin contracture syndrome 78
Mucopolysaccharidosis, MPS-III-D 78
Myopathy with postural muscle atrophy, X-linked 78
Osteoglophonic dysplasia 78
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 78
Proprotein convertase 1/3 deficiency 78
Short Rib Polydactyly Syndrome 78
Symmetrical dyschromatosis of extremities 78
Trigonocephaly 1 78
Abetalipoproteinaemia 77
Acrodysostosis 2, with or without hormone resistance 77
Amelogenesis imperfecta 77
Brachydactyly 77
Congenital stationary night blindness, type 2B 77
Familial restrictive cardiomyopathy 77
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 77
Hyperparathyroidism 1 77
Hypomagnesemia 4, renal 77
Hypotrichosis 6 77
Leber congenital amaurosis 7 77
Neuronal ceroid lipofuscinosis 5 77
Paroxysmal extreme pain disorder 77
Polycystic liver disease 2 77
Severe congenital neutropenia 4, autosomal recessive 77
Severe congenital neutropenia 5, autosomal recessive 77
Tyrosinase-positive oculocutaneous albinism 77
Age-related macular degeneration 9 76
Asphyxiating thoracic dystrophy 2 76
Autoimmune lymphoproliferative syndrome type 2B 76
Autosomal recessive multiple pterygium syndrome 76
Bartsocas-Papas syndrome 76
Epileptic encephalopathy, early infantile, 32 76
Familial hyperinsulinism 76
Fleck corneal dystrophy 76
Fraser syndrome 3 76
Immunodeficiency 12 76
Keratitis, hereditary 76
Limb-girdle muscular dystrophy, type 1F 76
Megalencephalic leukoencephalopathy with subcortical cysts 76
Mulibrey nanism syndrome 76
Nephronophthisis 7 76
Pontocerebellar hypoplasia type 2D 76
Thrombophilia due to protein S deficiency, autosomal dominant 76
Amyloidogenic transthyretin amyloidosis 75
Autosomal recessive limb-girdle muscular dystrophy type 2F 75
Bartter syndrome, type 1, antenatal 75
Brooke-Spiegler syndrome 75
COG1 congenital disorder of glycosylation 75
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 75
Cerebral cavernous malformation 75
Foveal hypoplasia and presenile cataract syndrome 75
Hyperparathyroidism 2 75
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 75
Lymphoproliferative syndrome 2, X-linked 75
Maturity-onset diabetes of the young, type 3 75
Meckel syndrome type 7 75
Multiple congenital anomalies-hypotonia-seizures syndrome 2 75
Paramyotonia congenita of von Eulenburg 75
Peters plus syndrome 75
Primary familial dilated cardiomyopathy 75
Zonular pulverulent cataract 3 75
Alzheimer disease 74
Deficiency of aromatic-L-amino-acid decarboxylase 74
Dyskeratosis congenita, autosomal recessive, 5 74
Factor v and factor viii, combined deficiency of, 2 74
Late-onset retinal degeneration 74
MAPT-Related Spectrum Disorders 74
MPI-CDG 74