ClinVar Miner

Variants reported as likely benign

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Gene type:
ClinVar version:
Total variants: 1031428
Total variants unanimously reported as likely benign: 873090

Breakdown by submitter #

Total submitters: 410
Download table as spreadsheet
Submitter Variants
Invitae 767682
Ambry Genetics 138411
GeneDx 93646
PreventionGenetics, part of Exact Sciences 70927
CeGaT Center for Human Genetics Tuebingen 53243
Illumina Laboratory Services, Illumina 20821
Color Diagnostics, LLC DBA Color Health 19215
Fulgent Genetics, Fulgent Genetics 11768
All of Us Research Program, National Institutes of Health 10366
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8387
Genetic Services Laboratory, University of Chicago 7837
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 7674
University of Washington Department of Laboratory Medicine, University of Washington 7395
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6324
Natera, Inc. 5909
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5275
Genome-Nilou Lab 4935
Genome Diagnostics Laboratory, University Medical Center Utrecht 4537
Sema4, Sema4 4348
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 3890
Quest Diagnostics Nichols Institute San Juan Capistrano 3694
Eurofins Ntd Llc (ga) 3052
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2991
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2718
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 2342
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2334
Counsyl 2228
Athena Diagnostics Inc 2107
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1851
Mendelics 1745
Clinical Genetics, Academic Medical Center 1571
Genome Diagnostics Laboratory, The Hospital for Sick Children 1517
Department of Pathology and Laboratory Medicine, Sinai Health System 1513
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1277
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1178
ISCA site 1 980
Myriad Genetics, Inc. 856
ISCA site 4 838
Molecular Genetics Laboratory, London Health Sciences Centre 834
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 742
Mayo Clinic Laboratories, Mayo Clinic 730
ISCA Site 6 673
KCCC/NGS Laboratory, Kuwait Cancer Control Center 664
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 587
Dept Of Ophthalmology, Nagoya University 510
Center for Human Genetics, Inc, Center for Human Genetics, Inc 489
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 432
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 396
True Health Diagnostics 373
Revvity Omics, Revvity 320
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 308
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 306
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 264
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 264
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 238
Leiden Open Variation Database 236
ISCA site 19 233
Sharing Clinical Reports Project (SCRP) 223
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 210
CSER _CC_NCGL, University of Washington 187
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 186
Institute of Human Genetics, University of Leipzig Medical Center 182
LDLR-LOVD, British Heart Foundation 181
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 164
Johns Hopkins Genomics, Johns Hopkins University 162
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 153
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 151
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 137
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 116
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 114
Service de Génétique Moléculaire, Hôpital Robert Debré 110
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 108
Blueprint Genetics 105
MGZ Medical Genetics Center 103
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 100
Clinical Genetics, Erasmus University Medical Center 99
BRCAlab, Lund University 99
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 95
Pars Genome Lab 94
Department of Medical and Surgical Sciences, University of Bologna 94
ClinGen Myeloid Malignancy Variant Curation Expert Panel 92
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 86
Centre for Mendelian Genomics, University Medical Centre Ljubljana 85
Robarts Research Institute, Western University 84
Genomic Research Center, Shahid Beheshti University of Medical Sciences 83
Genetics and Genomics Program, Sidra Medicine 76
Medical Research Institute, Tokyo Medical and Dental University 74
Genetics and Molecular Pathology, SA Pathology 73
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 72
ClinGen CDH1 Variant Curation Expert Panel 71
Molecular Genetics, Royal Melbourne Hospital 69
ClinGen RASopathy Variant Curation Expert Panel 60
Department of Ophthalmology and Visual Sciences Kyoto University 58
ClinGen TP53 Variant Curation Expert Panel, ClinGen 58
Phosphorus, Inc. 53
Genetics Program, Instituto Nacional de Cancer 53
Paul Sabatier University EA-4555, Paul Sabatier University 50
Centre for Population Genomics, CPG 48
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 46
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 44
Cohesion Phenomics 44
Michigan Medical Genetics Laboratories, University of Michigan 43
Pathway Genomics 42
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 40
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 37
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 35
ClinGen Glaucoma Variant Curation Expert Panel 35
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 35
Vantari Genetics 34
HerediLab, Inc. 32
Génétique des Maladies du Développement, Hospices Civils de Lyon 32
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 31
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 31
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 30
Clingen PTEN Variant Curation Expert Panel, Clingen 30
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 29
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 29
ClinGen Hearing Loss Variant Curation Expert Panel 28
Giacomini Lab, University of California, San Francisco 27
Center for Precision Medicine, Meizhou People's Hospital 25
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 24
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 23
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 23
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 23
Baylor Genetics 22
Institute of Human Genetics, University of Goettingen 22
NIHR Bioresource Rare Diseases, University of Cambridge 22
ClinGen Monogenic Diabetes Variant Curation Expert Panel 22
Stanford Center for Inherited Cardiovascular Disease, Stanford University 21
Institute of Human Genetics, University Hospital Muenster 21
CHU Sainte-Justine Research Center, University of Montreal 20
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 20
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 20
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 19
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 18
Diagnostic Laboratory, Strasbourg University Hospital 18
GeneKor MSA 17
Knight Diagnostic Laboratories, Oregon Health and Sciences University 17
SIB Swiss Institute of Bioinformatics 17
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 17
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 17
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 16
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 16
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 16
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 16
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen 16
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 16
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 15
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 14
RettBASE 14
Center for Medical Genetics Ghent, University of Ghent 14
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 14
Cancer Genomics Group, Japanese Foundation For Cancer Research 14
Department of Biosciences, University of Milan 14
Institute for Integrative and Experimental Genomics, University of Luebeck 13
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 13
Medical Genetics, University of Parma 12
Department of Medical Genetics, University Hospital of North Norway 12
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 12
ClinGen Brain Malformations Variant Curation Expert Panel 12
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 11
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 11
Gharavi Laboratory, Columbia University 11
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 11
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 11
New York Genome Center 11
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 11
Center of Medical Genetics and Primary Health Care 10
Inherited Neuropathy Consortium 10
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 10
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 10
Elsea Laboratory, Baylor College of Medicine 9
Faculté Pluridciplinaire Nador, Université Mohamed Premier 9
3billion 9
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 9
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 8
Suma Genomics 8
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 8
Claritas Genomics 7
PXE International 7
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 7
Hadassah Hebrew University Medical Center 7
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 7
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 7
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 7
ClinGen Cardiomyopathy Variant Curation Expert Panel 7
Schule lab, Hertie Institute for Clinical Brain Research 7
Reproductive Health Research and Development, BGI Genomics 7
Dept of Medical Biology, Uskudar University 7
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 7
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen 7
Clinical Biochemistry Laboratory, Health Services Laboratory 6
University of Washington Center for Mendelian Genomics, University of Washington 6
Daryl Scott Lab, Baylor College of Medicine 6
Department of Pathology and Molecular Medicine, Queen's University 6
Breda Genetics srl 6
Genome Medicine, Institute for Basic Research in Developmental Disabilities 6
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 6
CeMIA 6
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 6
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 6
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 6
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh 6
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 6
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 5
Institute of Human Genetics, Cologne University 5
Institute of Human Genetics, Medical University Innsbruck 5
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) 5
Northcott Neuroscience Laboratory, ANZAC Research Institute 5
ISCA site 7 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5
Centre for Genomic and Experimental Medicine, University of Edinburgh 5
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 5
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 5
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 5
Fundacion Hipercolesterolemia Familiar 5
Center for Personalized Medicine, Children's Hospital Los Angeles 5
Department of Human Genetics, University Hospital Magdeburg 5
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 5
Institute of Reproductive Genetics, University of Münster 5
ACT Genomics, 5
Genetics Department, Polish Mother's Memorial Hospital Research Institute 5
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 5
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge 5
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 5
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 5
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 5
Inserm U 954, Faculté de Médecine de Nancy 4
Cytogenetics Laboratory, University of Washington 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 4
MVZ Praenatalmedizin und Genetik Nuernberg 4
Rare Disease Group, Clinical Genetics, Karolinska Institutet 4
SingHealth Duke-NUS Institute of Precision Medicine 4
ClinGen PAH Variant Curation Expert Panel 4
Laboratory of Functional Genomics, Research Centre for Medical Genetics 4
3DMed Clinical Laboratory Inc 4
Cavalleri Lab, Royal College of Surgeons in Ireland 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 4
INGEBI, INGEBI / CONICET 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 4
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 4
Reproductive Endocrine Unit, Massachusetts General Hospital 4
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 4
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 4
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 4
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 4
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 3
MVZ Dr. Eberhard & Partner Dortmund 3
State Key Lab of Medical Genetics, Central South University 3
Atomic Energy Commission of Syria (AECS) 3
Laboratory of Human Genetics, Universidade de São Paulo 3
Cytogenetics- Mohapatra Lab, Banaras Hindu University 3
Center for Human Genetics, University of Leuven 3
Myllykangas group, University of Helsinki 3
Neurogenetics Research Program, University of Adelaide 3
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 3
Centre for Medical Genetics, Mumbai 3
Molecular Genetics Lab, CHRU Brest 3
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 3
Clinical Genomics Labs, University Health Network 3
Institute of Neurology, Charite University of Medicine 3
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 3
Dunham Lab, University of Washington 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 3
Molecular Physiology Group, Radboudumc 3
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2
UniProtKB/Swiss-Prot 2
Birmingham Platelet Group; University of Birmingham 2
ISCA site 3 2
Duke University Health System Sequencing Clinic, Duke University Health System 2
Department of Hematology, University of Health Sciences 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2
Rui Chen Lab, Baylor College of Medicine 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2
Iberoamerican FH Network 2
Department of Medical Sciences, Uppsala University 2
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 2
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 2
University of Iowa Renal Genetics Clinic, University of Iowa 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 2
Pecori Giraldi Lab, University of Milan 2
Sydney Genome Diagnostics, Children's Hospital Westmead 2
John Atkinson Laboratory, Washington University School of Medicine in St. Louis 2
Ulrich Schweizer laboratory, Universitaetsklinikum Bonn 2
Phillips Lab, Hematology, University of Utah 2
Department of Human Genetics, Hannover Medical School 2
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 2
Laboratory of Hematology, Radboud University Medical Center 2
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 2
Institute of Anatomy and Cell Biology, Medical Faculty, University Of Bonn 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 1
Centogene AG - the Rare Disease Company 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1
Versiti Diagnostic Laboratories, Versiti, Inc 1
Bionano Laboratories 1
GeneReviews 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1
Eye Genetics Research Group, Children's Medical Research Institute 1
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1
Laboratorio de Genetica Humana; Universidad de los Andes 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1
Section on Translational Neuroscience, Molecular Medicine Program; NICHD; National Institutes of Health 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1
ISCA site 18 1
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 1
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 1
Deafness Gene Diagnosis, Xijing Hospital 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Sun Yet-sen University 1
Karolinska institutet 1
Abrahams Lab, Albert Einstein College of Medicine 1
Division of Human Genetics, Children's Hospital of Philadelphia 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1
Sidra Medicine 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1
Medical Molecular Genetics Department, National Research Center 1
Institute of Human Genetics, University of Wuerzburg 1
GenePathDx, GenePath diagnostics 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1
Undiagnosed Diseases Network, NIH 1
The Genetics Institute, Rambam Health Care Campus 1
Genetic Laboratory, Instituto Nacional de Cancer 1
KK Women’s and Children’s Hospital 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1
Institute of Medical Genetics, University of Zurich 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 1
Molecular Oncology Laboratory, Hospital Clínico San Carlos 1
Dept of Molecular Biology and Genetics, Bogazici University 1
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 1
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer 1
Biomedical Innovation Departament, CIEMAT 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1
Center of Medical Genetics, Central South University 1
Institute of Experimental Epileptology and Cognition Research, University of Bonn 1
Lab. Molecular Oncology, VUB, Free University of Brussels 1
Polak associated Lab, IMAGINE Institute 1
International Hereditary Cancer Center PUM, Pomeranian Medical University 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1
Clinical Genetics, Amsterdam Medical Centre 1
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 1
Genesis Genoma Lab, Genesis Genoma Lab 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1
Department of Medical Genomics, Royal Prince Alfred Hospital 1
Noelle C. Anastasio Laboratory, University of Texas Medical Branch 1
Institute of Genomic Medicine, Catholic University 1
Laboratory of Genetic Engineering, National Medical Research Center for Hematology 1
Pediatric Oncology, Johns Hopkins University 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 1
MNM Diagnostics 1
Roden Lab, Vanderbilt University Medical Center 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1
Molecular Oncology Research Center, Barretos Cancer Hospital 1
GenomeConnect - Simons Searchlight 1
Paris Brain Institute, Inserm - ICM 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 1
Molecular Genetics, Madras Diabetes Research Foundation 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1
Phenosystems SA 1
Neuberg Centre For Genomic Medicine, NCGM 1
Laboratory of Molecular Diagnosis of Genetic Disease, Università degli Studi di Napoli Federico II 1
Lotan Lab, Johns Hopkins University 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1
Neurology Department, Shenzhen Children's Hospital 1
JKU Lab, Dept of Paediatrics, Johannes Kepler University 1
iDNA Genomics 1
Human Genetics Bochum, Ruhr University Bochum 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 1
Department of Pediatrics, Penn State Hershey College of Medicine 1
Pathology Department, Puerta del Mar University Hospital 1
Department of Paediatrics, National University Hospital 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 1
Laboratory of Human Genetics, Chiril Draganiuc Institute of Phthisiopneumology 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1
Research and Counseling Department, Research Centre for Medical Genetics 1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 1
Research Unit of Translational Medicine, University of Oulu 1
Gene Friend Way, National Innovation Center 1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1
Narges Medical Genetic and Prenatal Diagnosis Lab 1

Breakdown by condition #

Total conditions: 10680
Download table as spreadsheet
Condition Variants
not provided 447182
not specified 86101
Hereditary cancer-predisposing syndrome 56243
Inborn genetic diseases 26887
Cardiovascular phenotype 25107
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 11393
Primary ciliary dyskinesia 10393
Familial thoracic aortic aneurysm and aortic dissection 6593
Fanconi anemia 6400
Spastic paraplegia 6136
Nemaline myopathy 2 6075
Hereditary breast ovarian cancer syndrome 5512
Cardiomyopathy 5452
Hereditary nonpolyposis colorectal neoplasms 5451
Early infantile epileptic encephalopathy with suppression bursts 5264
Long QT syndrome 4202
Ataxia-telangiectasia syndrome 3765
Hypertrophic cardiomyopathy 3560
RYR1-Related Disorders 3440
Tuberous sclerosis 2 3406
See cases 3401
Bardet-Biedl syndrome 3207
Neurofibromatosis, type 1 3102
Duchenne muscular dystrophy 2941
Familial cancer of breast 2920
Familial aplasia of the vermis; Meckel-Gruber syndrome 2910
Catecholaminergic polymorphic ventricular tachycardia 1 2890
Bethlem myopathy 1A 2678
RASopathy 2518
Autosomal recessive polycystic kidney disease 2474
Cohen syndrome 2459
Charcot-Marie-Tooth disease type 2 2412
Familial adenomatous polyposis 1 2355
LAMA2-related muscular dystrophy 2288
Charcot-Marie-Tooth disease type 4 2273
Rhabdoid tumor predisposition syndrome 2 2250
Charcot-Marie-Tooth disease axonal type 2O 2205
Gastrointestinal stromal tumor 2161
Alstrom syndrome 2127
Jeune thoracic dystrophy 1968
Gorlin syndrome 1927
Epileptic encephalopathy 1918
Qualitative or quantitative defects of dysferlin 1914
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 1884
Ellis-van Creveld syndrome; Curry-Hall syndrome 1836
DICER1-related tumor predisposition 1835
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 1830
Nephronophthisis 1745
Ehlers-Danlos syndrome, classic type, 1 1739
Colorectal cancer, susceptibility to, 10 1733
Neuronal ceroid lipofuscinosis 1712
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 1641
Kabuki syndrome 1639
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 1541
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 1538
Breast-ovarian cancer, familial, susceptibility to, 2 1522
Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 1514
Baller-Gerold syndrome 1513
Chédiak-Higashi syndrome 1502
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 1499
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 1487
Non-ketotic hyperglycinemia 1454
Neuroblastoma, susceptibility to, 3 1439
Tuberous sclerosis 1 1430
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 1417
Cystic fibrosis 1372
Adams-Oliver syndrome 5 1345
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 1343
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 1321
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 1316
Hereditary spastic paraplegia 11 1288
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 1265
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 1219
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1218
Alpha thalassemia-X-linked intellectual disability syndrome 1217
Cardiac arrhythmia 1217
MHC class II deficiency 1213
CHARGE association 1203
Bloom syndrome 1177
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 1177
Werner syndrome 1175
Brugada syndrome 1167
Niemann-Pick disease, type C1 1152
Hereditary diffuse gastric adenocarcinoma 1146
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1144
Juvenile polyposis syndrome 1128
Peroxisome biogenesis disorder 1127
EGFR-related lung cancer 1118
Familial cancer of breast; Fanconi anemia complementation group J 1116
Multiple endocrine neoplasia, type 2 1115
Propionic acidemia 1110
Glycogen storage disease, type II 1088
Wilson disease 1088
Familial hypercholesterolemia 1087
Congenital contractural arachnodactyly 1070
Progressive sclerosing poliodystrophy 1061
Dyskeratosis congenita 1056
Vici syndrome 1049
Congenital hyperammonemia, type I 1044
Oligodontia-cancer predisposition syndrome 1031
Renal cell carcinoma 1025
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 999
Glycogen storage disease type III 997
Severe combined immunodeficiency due to DNA-PKcs deficiency 977
Familial aplasia of the vermis 973
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 969
Maple syrup urine disease 964
Aortic aneurysm, familial thoracic 4 948
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 947
Ehlers-Danlos syndrome, dermatosparaxis type 941
Intellectual disability 932
Breast-ovarian cancer, familial, susceptibility to, 1 928
Kleefstra syndrome 1 923
Lynch syndrome 915
Microcephaly, normal intelligence and immunodeficiency 915
Pyruvate carboxylase deficiency 913
Retinoblastoma 900
Deficiency of alpha-mannosidase 888
Autosomal dominant nocturnal frontal lobe epilepsy 883
Congenital myasthenic syndrome 8 866
Hereditary spastic paraplegia 49 857
Malignant hyperthermia, susceptibility to, 1 843
Charcot-Marie-Tooth disease 839
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 838
Autosomal recessive hyper-IgE syndrome 828
Hereditary hemochromatosis 827
Immunodeficiency 104 827
Developmental and epileptic encephalopathy, 12 826
Zellweger spectrum disorders 825
Catecholaminergic polymorphic ventricular tachycardia 822
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 822
Peutz-Jeghers syndrome 822
Perlman syndrome 804
Hereditary pancreatitis 802
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 798
BAP1-related tumor predisposition syndrome 795
Ehlers-Danlos syndrome, type 4 781
Familial adenomatous polyposis 2 775
Multiple acyl-CoA dehydrogenase deficiency 772
Imerslund-Grasbeck syndrome 771
Mucopolysaccharidosis type 1 767
Familial hemophagocytic lymphohistiocytosis 3 766
Saldino-Mainzer syndrome 757
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 745
Primary dilated cardiomyopathy 745
Very long chain acyl-CoA dehydrogenase deficiency 742
Osteogenesis imperfecta type I 738
Mucolipidosis type II; Pseudo-Hurler polydystrophy 717
Hereditary insensitivity to pain with anhidrosis 716
Retinitis pigmentosa 12; Leber congenital amaurosis 8 716
Dilated cardiomyopathy 1DD 715
Landau-Kleffner syndrome 714
Leigh syndrome 714
Developmental and epileptic encephalopathy 94 709
Methylmalonic acidemia with homocystinuria, type cblX 686
Walker-Warburg congenital muscular dystrophy 685
Aortic aneurysm, familial thoracic 7 683
Combined immunodeficiency due to LRBA deficiency 683
Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 682
Breast and/or ovarian cancer 681
Multiple endocrine neoplasia, type 1 678
Glycogen storage disease, type V 672
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 669
Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 664
Tuberous sclerosis syndrome 656
Autosomal recessive limb-girdle muscular dystrophy type 2A 646
Developmental and epileptic encephalopathy, 23 646
Hypertrophic cardiomyopathy 14 628
Hereditary sensory neuropathy-deafness-dementia syndrome 627
Familial focal epilepsy with variable foci 625
Pitt-Hopkins-like syndrome 2 624
Birt-Hogg-Dube syndrome 621
T-B+ severe combined immunodeficiency due to JAK3 deficiency 614
Congenital myasthenic syndrome 4A 613
Cone-rod dystrophy 6; Leber congenital amaurosis 1 606
Nephrolithiasis/nephrocalcinosis 604
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 604
Schimke immuno-osseous dysplasia 603
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 598
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 598
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 595
Hereditary pheochromocytoma-paraganglioma 594
Hyperkalemic periodic paralysis 589
Connective tissue disorder 588
Li-Fraumeni syndrome 587
Methylcobalamin deficiency type cblG 584
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 581
Neurofibromatosis, type 2 575
Parathyroid carcinoma 575
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 572
Familial cold autoinflammatory syndrome 3 567
Brugada syndrome 8 566
Early myoclonic encephalopathy 564
Mucolipidosis type IV 559
Hypercholesterolemia, familial, 1 553
Familial melanoma 552
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 552
Rubinstein-Taybi syndrome 552
Dilated cardiomyopathy 1O 550
Galactosylceramide beta-galactosidase deficiency 550
FG syndrome 548
Autosomal recessive DOPA responsive dystonia 547
Idiopathic generalized epilepsy 544
Cortical dysplasia-focal epilepsy syndrome 543
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 541
Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 540
Hereditary spastic paraplegia 39 539
Tumor predisposition syndrome 3 538
Alagille syndrome due to a JAG1 point mutation 537
Polyglandular autoimmune syndrome, type 1 536
Familial hemophagocytic lymphohistiocytosis 5 534
Carnitine palmitoyl transferase 1A deficiency 532
Marfan syndrome 532
TTN-related condition 532
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 531
Adrenoleukodystrophy 529
Glycogen storage disease, type VII 529
Noonan syndrome 9 529
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 528
Developmental and epileptic encephalopathy, 36 525
Glycogen storage disease IXb 524
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 521
Epidermodysplasia verruciformis 519
Retinal dystrophy 519
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 518
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 515
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 511
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 510
Generalized epilepsy-paroxysmal dyskinesia syndrome 509
Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 507
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 505
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 504
Creatine transporter deficiency 503
Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 501
Beckwith-Wiedemann syndrome 499
Familial Mediterranean fever 496
Malignant tumor of breast 496
Multiple congenital anomalies-hypotonia-seizures syndrome 1 496
Nephronophthisis 15 496
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 496
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 494
KBG syndrome 492
Acrocallosal syndrome 491
Severe combined immunodeficiency due to DCLRE1C deficiency 490
Ehlers-Danlos syndrome, kyphoscoliotic type 1 488
Intellectual disability, autosomal dominant 5 484
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 482
Charcot-Marie-Tooth disease dominant intermediate B 481
DOCK2 deficiency 481
Dystonia 12 481
Methylcobalamin deficiency type cblE 481
Mucopolysaccharidosis, MPS-III-A 479
PTEN hamartoma tumor syndrome 476
Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 471
Intellectual disability, autosomal dominant 1 468
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 467
Progressive familial heart block type IB 466
Breast-ovarian cancer, familial, susceptibility to, 4 465
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 463
Neonatal-onset encephalopathy with rigidity and seizures 463
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 462
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 460
Tay-Sachs disease 456
Cholestanol storage disease 454
Intellectual disability, autosomal dominant 8 454
Left ventricular noncompaction 8 454
Brachyolmia-amelogenesis imperfecta syndrome 451
Familial infantile myasthenia 451
Gorlin syndrome; Medulloblastoma 451
Combined malonic and methylmalonic acidemia 450
Muscular dystrophy-dystroglycanopathy type B6 450
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 449
Metachromatic leukodystrophy 447
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 446
Congenital factor V deficiency 442
Dystonic disorder 441
Sphingolipid activator protein 1 deficiency 440
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 437
Infantile neuroaxonal dystrophy 437
Renal carnitine transport defect 435
Classic or attenuated familial adenomatous polyposis 433
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 433
PHGDH deficiency 432
Arrhythmogenic right ventricular dysplasia 9 430
Holocarboxylase synthetase deficiency 430
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 427
Argininosuccinate lyase deficiency 427
Arrhythmogenic right ventricular cardiomyopathy 427
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 426
Retinitis pigmentosa 426
Familial hemiplegic migraine 424
Arrhythmogenic right ventricular dysplasia 10 423
Peroxisome biogenesis disorder 2B 423
Progressive myoclonic epilepsy 422
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 419
Developmental and epileptic encephalopathy, 30 417
Fanconi anemia complementation group O 417
Facioscapulohumeral muscular dystrophy 2 416
Developmental and epileptic encephalopathy, 34 415
Dilated cardiomyopathy 1JJ 414
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 411
Hajdu-Cheney syndrome 410
Carnitine palmitoyltransferase II deficiency 409
Citrin deficiency 408
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 407
Jeune thoracic dystrophy; Nephronophthisis 406
Mucopolysaccharidosis, MPS-IV-A 406
Dilated cardiomyopathy 1W 402
ALG1-congenital disorder of glycosylation 400
Immunodeficiency 14 399
Koolen-de Vries syndrome 399
MHC class I deficiency 396
Niemann-Pick disease, type B; Niemann-Pick disease, type A 396
Severe combined immunodeficiency due to IKK2 deficiency 395
Aicardi-Goutieres syndrome 5 393
Dilated cardiomyopathy 1KK 393
Smith-Lemli-Opitz syndrome 393
Mowat-Wilson syndrome 391
Acyl-CoA oxidase deficiency 390
Mucopolysaccharidosis, MPS-III-D 390
Pyridoxine-dependent epilepsy 390
Combined oxidative phosphorylation defect type 17 388
Lethal congenital glycogen storage disease of heart 387
Wilms tumor 1 387
Developmental and epileptic encephalopathy, 54 386
Ataxia-telangiectasia-like disorder 385
Genitopatellar syndrome 385
Myopathy, proximal, and ophthalmoplegia 385
Hypercholesterolemia, autosomal dominant, 3 384
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 383
Hereditary hemorrhagic telangiectasia 381
Hereditary spastic paraplegia 381
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 380
Malignant hyperthermia, susceptibility to, 5 379
Diamond-Blackfan anemia 378
Carney complex, type 1 377
KMT2D-related condition 375
Glucose-6-phosphate transport defect 374
Sandhoff disease 374
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 373
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 372
Emery-Dreifuss muscular dystrophy 371
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 371
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 371
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 371
Osteogenesis imperfecta type 8 371
Arrhythmogenic right ventricular dysplasia 11 370
Capillary malformation-arteriovenous malformation syndrome 370
Multiple gastrointestinal atresias 370
Hyperammonemia, type III 364
Pityriasis rubra pilaris; Psoriasis 2 364
Benign neonatal seizures 363
Autoimmune interstitial lung disease-arthritis syndrome 361
Glutaric aciduria, type 1 361
Leber congenital amaurosis 2; Retinitis pigmentosa 20 361
GNE myopathy; Sialuria 360
Transposition of the great arteries, dextro-looped 357
Intellectual disability, autosomal recessive 53 354
Citrullinemia 353
Nephronophthisis 14 352
ALG6-congenital disorder of glycosylation 1C 349
Intellectual disability, X-linked 1 349
Phenylketonuria 349
Shprintzen-Goldberg syndrome 349
Epilepsy, familial adult myoclonic, 5 348
Tyrosinemia type I 347
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 346
Lysinuric protein intolerance 346
Charcot-Marie-Tooth disease axonal type 2C 343
Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 343
Neuronal ceroid lipofuscinosis 7 342
Joubert syndrome 21 341
Multiple sulfatase deficiency 341
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 339
Beta-D-mannosidosis 339
Isovaleryl-CoA dehydrogenase deficiency 334
Mucopolysaccharidosis type 6 334
Developmental and epileptic encephalopathy, 31 333
Mucopolysaccharidosis type 7 331
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 330
Severe neonatal-onset encephalopathy with microcephaly 330
Familial cold autoinflammatory syndrome 2 328
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 328
Transcobalamin II deficiency 328
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 327
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 326
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 325
Immunodeficiency 35 324
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 323
Chuvash polycythemia; Von Hippel-Lindau syndrome 323
Congenital muscular dystrophy due to integrin alpha-7 deficiency 322
Congenital disorder of deglycosylation 320
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 320
Deficiency of malonyl-CoA decarboxylase 319
Deficiency of acetyl-CoA acetyltransferase 316
PKD1-related condition 316
Peroxisome biogenesis disorder, complementation group 7 315
Autosomal recessive limb-girdle muscular dystrophy type 2D 313
Autosomal recessive limb-girdle muscular dystrophy type R18 313
Cornelia de Lange syndrome 1 313
Lowe syndrome 312
Leukocyte adhesion deficiency 1 311
Schuurs-Hoeijmakers syndrome 311
Majeed syndrome 310
3-methylcrotonyl-CoA carboxylase 1 deficiency 308
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 307
Myofibrillar myopathy 4 307
Autoinflammatory syndrome 306
Colorectal cancer, hereditary nonpolyposis, type 7 306
Hereditary spastic paraplegia 48 306
Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 306
Lethal multiple pterygium syndrome 305
Mucopolysaccharidosis, MPS-II 305
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 305
Dilated Cardiomyopathy, Recessive 304
Blau syndrome; Regional enteritis 301
Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 301
Pyruvate dehydrogenase E3 deficiency 301
Sotos syndrome 299
Hyperekplexia 3 298
Hyperphosphatasia with intellectual disability syndrome 2 298
Pigmentary pallidal degeneration 297
Dilated cardiomyopathy 1G 296
Immunodeficiency, common variable, 10 295
Infantile-onset ascending hereditary spastic paralysis 295
Maturity onset diabetes mellitus in young 295
Charcot-Marie-Tooth disease axonal type 2Z 292
PCNT-related condition 292
Gamma-aminobutyric acid transaminase deficiency 291
Deficiency of galactokinase 288
Combined oxidative phosphorylation defect type 27 287
DYRK1A-related intellectual disability syndrome 287
Epilepsy 287
Haddad syndrome 287
Myoclonic-atonic epilepsy 287
Aortic valve disease 2 286
MEGF10-related myopathy 286
Pitt-Hopkins syndrome 286
Cowden syndrome 285
Fanconi anemia complementation group E 285
Peroxisome biogenesis disorder 9B 285
Acute myeloid leukemia 284
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 284
Developmental and epileptic encephalopathy, 25 283
Developmental and epileptic encephalopathy, 9 283
Brody myopathy 281
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 281
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 281
Cryopyrin associated periodic syndrome 280
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 280
Immunodeficiency 51 280
Luscan-Lumish syndrome 280
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 279
Combined deficiency of sialidase AND beta galactosidase 279
Granulomatous disease, chronic, X-linked 279
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 278
Mosaic variegated aneuploidy syndrome 1 277
COG5-congenital disorder of glycosylation 275
Charcot-Marie-Tooth disease, type I 275
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 275
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 275
Herpes simplex encephalitis, susceptibility to, 1 275
MPI-congenital disorder of glycosylation 275
Tyrosinemia type II 275
Ehlers-Danlos syndrome 274
Hypercholesterolemia, familial, 4 274
Charcot-Marie-Tooth disease axonal type 2P 273
Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 273
Congenital muscular hypertrophy-cerebral syndrome 272
Medium-chain acyl-coenzyme A dehydrogenase deficiency 271
Ornithine aminotransferase deficiency 271
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 270
Cone-rod dystrophy 13; Leber congenital amaurosis 6 269
Autosomal dominant Parkinson disease 8 268
Familial acute necrotizing encephalopathy 268
Xanthinuria type II 268
Usher syndrome type 2A 267
Immunodeficiency 23 266
Salla disease 266
Arrhythmogenic right ventricular dysplasia 5 265
Chromosome 2q32-q33 deletion syndrome 264
DiGeorge syndrome 264
Familial meningioma 264
Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 264
Li-Fraumeni syndrome 1 264
Desmin-related myofibrillar myopathy 262
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 262
Supravalvar aortic stenosis 261
3-methylcrotonyl-CoA carboxylase 2 deficiency 258
Myopathy, centronuclear, 2 258
Severe X-linked myotubular myopathy 258
Wolman disease 256
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 255
2-aminoadipic 2-oxoadipic aciduria 254
Developmental and epileptic encephalopathy, 26 253
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 253
Isolated microphthalmia 2 251
Androgen resistance syndrome; Kennedy disease 250
Candidiasis, familial, 9 250
Neuronal ceroid lipofuscinosis 1 250
Dilated Cardiomyopathy, Dominant 248
Retinitis pigmentosa 59 248
Succinate-semialdehyde dehydrogenase deficiency 248
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 247
Hermansky-Pudlak syndrome 2 247
Ichthyosis linearis circumflexa 247
Pontocerebellar hypoplasia type 1A 247
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 247
Deficiency of hydroxymethylglutaryl-CoA lyase 246
Immunodeficiency, common variable, 7 246
DNA ligase IV deficiency 245
Brugada syndrome 4 244
Cowden syndrome 6 244
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 244
PMM2-congenital disorder of glycosylation 244
CREBBP-related condition 243
GLUT1 deficiency syndrome 1, autosomal recessive 243
Hereditary fructosuria 243
Leber congenital amaurosis 13 243
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 243
Amelocerebrohypohidrotic syndrome 242
Aortic aneurysm, familial thoracic 8 241
Colorectal cancer, susceptibility to, 12 241
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 241
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 241
ALG9 congenital disorder of glycosylation 240
Costello syndrome 240
Dilated cardiomyopathy 1J 240
Cranioectodermal dysplasia 1 239
Epilepsy, familial focal, with variable foci 3 239
Fibrous dysplasia of jaw 239
Kabuki syndrome 2 237
Woodhouse-Sakati syndrome 237
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 236
Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 236
Myasthenic syndrome, congenital, 22 236
Loeys-Dietz syndrome 2 235
Methylmalonic aciduria and homocystinuria type cblF 235
Rett syndrome, congenital variant 235
Familial hemophagocytic lymphohistiocytosis 2 234
Developmental and epileptic encephalopathy, 33 233
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 233
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 233
Pyruvate dehydrogenase E1-beta deficiency 233
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 233
Weaver syndrome 233
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 233
Aspartylglucosaminuria 232
Cerebral creatine deficiency syndrome 232
Hereditary spastic paraplegia 7 232
Aicardi-Goutieres syndrome 4 231
Mitochondrial trifunctional protein deficiency 231
Distal hereditary motor neuropathy type 2 229
Leukocyte adhesion deficiency 3 229
Charcot-Marie-Tooth Neuropathy X 228
Predisposition to invasive fungal disease due to CARD9 deficiency 228
Biotin-responsive basal ganglia disease 227
Autosomal dominant limb-girdle muscular dystrophy type 1F 226
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 226
Immunodeficiency 226
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 226
Autosomal recessive limb-girdle muscular dystrophy type 2F 224
Immunodeficiency 39 224
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 224
Isolated microphthalmia 5 223
Neutral lipid storage myopathy 223
Giant axonal neuropathy 1 222
Hawkinsinuria; Tyrosinemia type III 221
Spastic ataxia 2 221
Compton-North congenital myopathy 220
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 220
Myopathy, myofibrillar, 9, with early respiratory failure 220
Osteogenesis imperfecta type 7 220
Aicardi-Goutieres syndrome 2 219
Arginase deficiency 219
X-linked Emery-Dreifuss muscular dystrophy 219
Alpha-1-antitrypsin deficiency 218
Hypertrophic cardiomyopathy 1 218
Arginine:glycine amidinotransferase deficiency 217
Atrioventricular septal defect 4 217
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 216
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 216
Ornithine carbamoyltransferase deficiency 216
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 215
MEGF8-related Carpenter syndrome 215
Autosomal recessive limb-girdle muscular dystrophy type 2E 214
ALG12-congenital disorder of glycosylation 213
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 213
Donnai-Barrow syndrome 212
Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 211
Syndromic multisystem autoimmune disease due to ITCH deficiency 211
UDPglucose-4-epimerase deficiency 211
Baraitser-Winter syndrome 1 210
Congenital myopathy with internal nuclei and atypical cores 210
Deficiency of aromatic-L-amino-acid decarboxylase 210
Familial aplasia of the vermis; Orofaciodigital syndrome I 210
Methylmalonic aciduria, cblB type 210
PLXNA3-related condition 210
Dyskeratosis congenita, autosomal dominant 6 209
Exostoses, multiple, type 2 209
COG7 congenital disorder of glycosylation 208
Cobalamin C disease 208
Ethylmalonic encephalopathy 207
Kostmann syndrome 206
Autosomal dominant polycystic kidney disease 205
Polycystic kidney disease, adult type 205
Achondrogenesis, type IA 204
Gastrointestinal stromal tumor; Paragangliomas 3 204
Inflammatory skin and bowel disease, neonatal, 1 204
NIK deficiency 204
Severe myoclonic epilepsy in infancy 204
VPS13B-related condition 204
Arrhythmogenic right ventricular dysplasia 13 202
Peroxisome biogenesis disorder, complementation group K 202
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 202
3-methylglutaconic aciduria, type VIIB 201
Biotinidase deficiency 201
Congenital prothrombin deficiency 201
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 200
Short-rib thoracic dysplasia 6 with or without polydactyly 200
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 200
Angelman syndrome 199
Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 198
Inherited glutathione synthetase deficiency 198
Lymphoproliferative syndrome 1 198
Martsolf syndrome; Warburg micro syndrome 2 198
Multiple endocrine neoplasia type 4 198
PLEC-related condition 198
Polyglucosan body myopathy type 1 198
Congenital glaucoma 197
Fabry disease 197
LAMA5-related condition 197
Methylmalonic aciduria, cblA type 197
Pancreatic adenocarcinoma 197
ZAP70-Related Severe Combined Immunodeficiency 197
Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 196
Parkinsonian-pyramidal syndrome 196
Alpha-N-acetylgalactosaminidase deficiency type 1 195
Desbuquois dysplasia 1 195
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 195
Polycystic kidney disease 195
Treacher Collins syndrome 1 195
Early-onset myopathy with fatal cardiomyopathy 194
Glycogen storage disease IXc 194
Lynch syndrome 5 194
Pyruvate dehydrogenase E1-alpha deficiency 194
Parkinsonism-dystonia, infantile 193
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 192
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 192
Intellectual disability, CASK-related, X-linked 192
Leber congenital amaurosis 4 192
TSC2-related condition 192
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 191
Deficiency of hyaluronoglucosaminidase 191
Noonan syndrome 191
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 190
Infantile-onset X-linked spinal muscular atrophy 190
Charcot-Marie-Tooth disease type 2R 189
EP300-related condition 189
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 189
Bardet-Biedl syndrome; McKusick-Kaufman syndrome 186
Lynch syndrome 1 186
Aortic valve disease 1 185
Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 185
Hereditary cancer 185
Pierpont syndrome 185
RAI1-related condition 185
GM3 synthase deficiency 183
Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 183
X-linked severe combined immunodeficiency 183
Autosomal recessive limb-girdle muscular dystrophy type 2C 182
Autosomal recessive limb-girdle muscular dystrophy type 2J 182
Nemaline myopathy 6 182
Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 182
RFT1-congenital disorder of glycosylation 182
TNF receptor-associated periodic fever syndrome (TRAPS) 182
Adenylosuccinate lyase deficiency 181
Hereditary spastic paraplegia 4 181
Sulfite oxidase deficiency 181
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 180
Charlevoix-Saguenay spastic ataxia 180
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 180
MUC16-related condition 180
Peroxisome biogenesis disorder 11A (Zellweger) 180
Atrioventricular septal defect 5 179
Legius syndrome 179
PLXNA1-related condition 179
Congenital long QT syndrome 178
Left ventricular noncompaction 1 178
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 178
Methylmalonic aciduria and homocystinuria type cblD 178
Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 177
Developmental and epileptic encephalopathy, 14 177
Eichsfeld type congenital muscular dystrophy 177
Primary pulmonary hypertension 177
Alkaptonuria 176
Nephronophthisis 18 176
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 175
Chondrodysplasia punctata, brachytelephalangic, autosomal 174
Fucosidosis 173
Short-rib thoracic dysplasia 8 with or without polydactyly 173
Autosomal dominant nocturnal frontal lobe epilepsy 5 172
Congenital glucose-galactose malabsorption 172
MOGS-congenital disorder of glycosylation 172
Short-rib thoracic dysplasia 11 with or without polydactyly 172
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 171
Hereditary pulmonary alveolar proteinosis 171
NF1-related condition 171
PKHD1-related condition 171
Polyhydramnios, megalencephaly, and symptomatic epilepsy 171
Progressive myoclonic epilepsy type 7 171
Arterial tortuosity syndrome 170
Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 170
Orofacial-digital syndrome IV; Joubert syndrome 18 170
Primary ciliary dyskinesia 23 170
Tatton-Brown-Rahman overgrowth syndrome 170
X-linked agammaglobulinemia with growth hormone deficiency 169
Amyotrophic lateral sclerosis type 21 168
Combined immunodeficiency due to MALT1 deficiency 168
Hypohidrotic X-linked ectodermal dysplasia 168
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 168
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 168
Spongy degeneration of central nervous system 168
Autism spectrum disorder 167
Brown-Vialetto-van Laere syndrome 2 167
Hypokalemic periodic paralysis, type 1 167
Long QT syndrome 1 167
TP63-Related Spectrum Disorders 167
Retinitis pigmentosa 39 166
Herpes simplex encephalitis, susceptibility to, 3 165
Loeys-Dietz syndrome 165
3-Methylglutaconic aciduria type 2 164
Aicardi-Goutieres syndrome 3 164
Autoimmune lymphoproliferative syndrome type 1 164
Glanzmann thrombasthenia 164
Infantile spasms 164
Autism spectrum disorder - epilepsy - arthrogryposis syndrome 163
Fanconi anemia complementation group A 163
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 163
Multiple congenital exostosis 162
Rafiq syndrome 162
BRCA2-related condition 161
Neuronopathy, distal hereditary motor, type 7A; Congenital myasthenic syndrome 20 161
Combined oxidative phosphorylation defect type 14 160
Deficiency of ferroxidase 160
Dihydropteridine reductase deficiency 160
H syndrome 160
Charcot-Marie-Tooth disease dominant intermediate C 159
Cutis laxa, autosomal recessive, type 1B 159
Peroxisome biogenesis disorder 3A (Zellweger) 159
Usher syndrome type 3B 159
Early-onset Lafora body disease 157
Intellectual disability, autosomal dominant 20 157
Epilepsy, childhood absence 2; Febrile seizures, familial, 8 156
Inflammatory bowel disease 28 156
PIEZO1-related condition 156
Epilepsy, progressive myoclonic, 1B 155
PLXNA4-related condition 155
Christianson syndrome 154
Ehlers-Danlos syndrome, spondylocheirodysplastic type 154
Orthostatic hypotension 1 154
Primary familial hypertrophic cardiomyopathy 154
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 154
Autosomal dominant limb-girdle muscular dystrophy type 1G 153
Congenital myasthenic syndrome 12 153
Danon disease 153
Paroxysmal nonkinesigenic dyskinesia 153
Episodic ataxia type 1 152
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 151
Fructose-biphosphatase deficiency 151
Hereditary hyperekplexia 151
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 151
RYR1-related condition 151
Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 151
Alzheimer disease 150
Congenital myopathy 18 150
Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 150
Thyrotoxic periodic paralysis, susceptibility to, 1 150
Vasculitis due to ADA2 deficiency 150
3-Methylglutaconic aciduria type 3; Optic atrophy 3 149
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 149
Dystonia 5; GTP cyclohydrolase I deficiency 149
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 147
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 147
Rienhoff syndrome 147
Seckel syndrome 1 147
Loeys-Dietz syndrome 4 146
Peroxisome biogenesis disorder 12A (Zellweger) 146
Peroxisome biogenesis disorder 5A (Zellweger) 146
Progressive myoclonic epilepsy type 5 146
Severe combined immunodeficiency due to CORO1A deficiency 146
FGFR2-related craniosynostosis 145
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 144
Hepatic veno-occlusive disease-immunodeficiency syndrome 144
Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome 143
Familial Mediterranean fever, autosomal dominant 143
Myoclonic dystonia 11 143
PKD1L1-related condition 143
PLXNA2-related condition 143
Retinitis Pigmentosa, Recessive 143
Short-rib thoracic dysplasia 13 with or without polydactyly 143
Herpes simplex encephalitis, susceptibility to, 4 142
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 141
Glycogen storage disease IXd 141
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 141
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 140
Hyperekplexia 2 140
Neuromuscular disease, congenital, with uniform type 1 fiber 140
Neuropathy, hereditary sensory, type 1F 140
Severe combined immunodeficiency due to LCK deficiency 140
Acute febrile neutrophilic dermatosis 139
Aortic aneurysm, familial thoracic 6 139
Cornelia de Lange syndrome 3 139
Developmental and epileptic encephalopathy, 8 139
Ehlers-Danlos syndrome type 7A 139
Episodic kinesigenic dyskinesia 139
Hereditary spastic paraplegia 50 139
PGM1-congenital disorder of glycosylation 139
Collagen 6-related myopathy 138
Erythrocytosis, familial, 3 138
Telangiectasia, hereditary hemorrhagic, type 2 138
Megaconial type congenital muscular dystrophy 137
Muscle AMP deaminase deficiency 137
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 137
Nemaline myopathy 8 137
Neuropathy, hereditary sensory and autonomic, type 1C 137
X-linked myopathy with postural muscle atrophy 137
Xeroderma pigmentosum 137
Atrial fibrillation, familial, 7 136
Colorectal cancer, hereditary nonpolyposis, type 2 136
Hereditary spastic paraplegia 3A 136
Hypertrophic cardiomyopathy 10 136
Surfactant metabolism dysfunction, pulmonary, 4 136
APC-related condition 135
Carcinoma of colon 135
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 135
Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 135
Osteogenesis imperfecta 135
Progressive myoclonic epilepsy type 8 135
Pyridoxal phosphate-responsive seizures 135
Autosomal dominant epilepsy with auditory features 134
Agammaglobulinemia 4, autosomal recessive 133
Autosomal recessive limb-girdle muscular dystrophy type 2Y 133
Brown-Vialetto-van Laere syndrome 1 133
EPPK1-related condition 133
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 133
Melanoma, cutaneous malignant, susceptibility to, 5 133
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 133
Usher syndrome type 1 133
Developmental and epileptic encephalopathy, 18 132
Ehlers-Danlos syndrome progeroid type 132
Familial hemophagocytic lymphohistiocytosis 4 132
Joubert syndrome 20; Meckel syndrome, type 11 132
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 132
Familial isolated arrhythmogenic right ventricular dysplasia 131
Mosaic variegated aneuploidy syndrome 2 131
OBSCN-related condition 131
Tibial muscular dystrophy 131
Carpenter syndrome 130
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 130
Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 129
Immunodeficiency 18 129
COG1 congenital disorder of glycosylation 128
DK1-congenital disorder of glycosylation 128
Lipoic acid synthetase deficiency 128
Niemann-Pick disease, type C2 128
Brugada syndrome 5 127
Sitosterolemia 127
5-Oxoprolinase deficiency 126
Congenital disorder of glycosylation, type IAA 126
Congenital myasthenic syndrome 5 126
Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 126
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 126
Neurodegeneration with brain iron accumulation 5 126
Alpha-methylacyl-CoA racemase deficiency 125
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 125
FLNA-related condition 125
Glycogen storage disease due to muscle beta-enolase deficiency 125
Hereditary sensory and autonomic neuropathy type 1 125
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 125
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 124
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 124
Autoimmune lymphoproliferative syndrome type 2A 124
Central core myopathy 124
Myofibrillar myopathy 3 124
Severe combined immunodeficiency due to CTPS1 deficiency 124
Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome 123
Autosomal dominant cerebellar ataxia 123
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 123
Congenital disorder of glycosylation 123
Nemaline myopathy 5 123
Nephronophthisis 16 123
Primary ciliary dyskinesia 28 123
Spinocerebellar ataxia type 19/22 123
ANKRD1-related dilated cardiomyopathy 122
ATM-related condition 122
Congenital myasthenic syndrome 2A 122
Developmental and epileptic encephalopathy, 37 122
Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 121
Generalized epilepsy with febrile seizures plus, type 9 121
NEB-related condition 121
Progressive myoclonic epilepsy type 3 121
Proline dehydrogenase deficiency 121
Developmental and epileptic encephalopathy, 32 120
FAT1-related condition 119
FMN2-related condition 119
FRAS1-related condition 119
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 119
Spondyloepiphyseal dysplasia with congenital joint dislocations 119
SMARCA4-related condition 118
Atrial septal defect 7 117
Atypical glycine encephalopathy 117
Hereditary spastic paraplegia 28 117
Macular degeneration 117
Monogenic diabetes 117
Andersen Tawil syndrome; Short QT syndrome type 3 116
D-2-hydroxyglutaric aciduria 1 116
Joubert syndrome 14 116
KCNQ1-related condition 116
Limb-Girdle Muscular Dystrophy, Recessive 116
NOTCH1-related condition 116
Wiskott-Aldrich syndrome 2 115
Axenfeld-Rieger syndrome type 3 114
Hereditary spastic paraplegia 73 114
Neu-Laxova syndrome 2 114
Charcot-Marie-Tooth disease type 2E 113
Joubert syndrome 15 113
Pontocerebellar hypoplasia type 1B 113
Primary ciliary dyskinesia 33 113
GNAS-related condition 112
Hereditary spastic paraplegia 75 112
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 112
Inosine triphosphatase deficiency 112
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 112
Kidney disorder 112
Methylmalonic acidemia with homocystinuria, type cblJ 112
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 112
PTCH1-related condition 112
Aniridia 1; Irido-corneo-trabecular dysgenesis 111
Combined immunodeficiency due to OX40 deficiency 111
Leber congenital amaurosis 3 111
Neuropathy, hereditary motor and sensory, type 6B 111
Primary ciliary dyskinesia 30 111
Joubert syndrome 8 109
ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 108
ANKRD11-related condition 108
Autoimmune lymphoproliferative syndrome type 2B 108
Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 108
Ectodermal dysplasia and immunodeficiency 2 108
NPHP4-related condition 108
POLE-related condition 108
ARID1B-related condition 107
Autosomal recessive limb-girdle muscular dystrophy type 2B 107
Carnitine acylcarnitine translocase deficiency 107
MECP2-related condition 107
Nemaline myopathy 10 107
Ulnar-mammary syndrome 107
Familial encephalopathy with neuroserpin inclusion bodies 106
Spondylocostal dysostosis 3, autosomal recessive 106
Deficiency of butyryl-CoA dehydrogenase 105
HNSHA due to aldolase A deficiency 105
Holoprosencephaly 5 105
Mitochondrial DNA depletion syndrome 9 105
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 104
SYNE1-related condition 104
Thrombophilia due to protein S deficiency, autosomal recessive 104
Actin accumulation myopathy 103
Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 103
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 103
Neutropenia, severe congenital, 2, autosomal dominant 103
Telangiectasia, hereditary hemorrhagic, type 5 103
Ehlers-Danlos syndrome, musculocontractural type 2 101
Frontotemporal dementia 101
Hyper-IgM syndrome type 5 101
Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 100
COL18A1-related condition 100
Combined immunodeficiency due to STK4 deficiency 100
FAT4-related condition 100
Glutamate formiminotransferase deficiency 100
Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 100
STING-associated vasculopathy with onset in infancy 100
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 99
Autosomal recessive early-onset Parkinson disease 6 99
Congenital insensitivity to pain-hypohidrosis syndrome 99
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 99
Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13 99
Intellectual disability, autosomal recessive 42 99
Leukocyte adhesion deficiency type II 99
MYH9-related condition 99
Marinesco-Sjögren syndrome 99
Pure or complex autosomal recessive spastic paraplegia 99
Abnormal esophagus morphology 98
Aneurysm-osteoarthritis syndrome 98
Arthrogryposis, distal, type 1A 98
DNAH17-related condition 98
FANCA-related condition 98
Fraser syndrome 1 98
Alport syndrome 97
Amyotrophic lateral sclerosis type 4 97
Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 97
CHD7-related condition 97
DYNC1H1-related condition 97
Leber congenital amaurosis 97
Susceptibility to mononeuropathy of the median nerve, mild 97
Autosomal recessive limb-girdle muscular dystrophy type 2W 96
CFTR-related condition 96
IFT172-related condition 96
Immunodeficiency due to CD25 deficiency 96
MYO5B-related condition 96
Neuronopathy, distal hereditary motor, autosomal recessive 5 96
PRPH2-Related Disorders 96
Hypomyelinating leukodystrophy 6 95
LRP2-related condition 95
Polycystic kidney disease 4 95
Pyruvate dehydrogenase E2 deficiency 95
Anophthalmia-microphthalmia syndrome 94
Charcot-Marie-Tooth disease dominant intermediate F 94
NPC1-related condition 94
Noonan syndrome 4 94
Spondyloenchondrodysplasia with immune dysregulation 94
EAST syndrome 93
Familial dysautonomia 93
SLC35A2-congenital disorder of glycosylation 93
Townes syndrome 93
Chorea-acanthocytosis 92
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 92
Hereditary spastic paraplegia 47 92
KIDINS220-related condition 92
NOTCH2-related condition 92
POLG-related disorder 92
Welander distal myopathy 92
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 91
BRCA1-related condition 91
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 91
GLI2-related condition 91
Holoprosencephaly 11 91
Immunodeficiency 19 91
Inflammatory bowel disease 25 91
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 91
Bailey-Bloch congenital myopathy 90
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 90
Lafora disease 90
Thrombophilia due to protein C deficiency, autosomal dominant 90
ZNF469-related condition 90
ADGRV1-related condition 89
CACNA1A-related disorder 89
CC2D2A-related condition 89
Charcot-Marie-Tooth disease type 4A 89
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 89
Congenital disorder of glycosylation type 1E 89
Familial amyloid neuropathy 89
Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 89
NRP2-related condition 89
POLD1-related condition 89
Sengers syndrome; Cataract 38 89
Camptomelic dysplasia 88
Hemochromatosis type 4 88
Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 88
Oculofaciocardiodental syndrome 88
X-linked Alport syndrome 88
Congenital primary aphakia; Anterior segment dysgenesis 87
Hereditary spastic paraplegia 54 87
Multiple congenital anomalies-hypotonia-seizures syndrome 3 87
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 87
Primary ciliary dyskinesia 6 87
Agammaglobulinemia 6, autosomal recessive 86
CEP290-related condition 86
Congenital myasthenic syndrome 18 86
Immunodeficiency, common variable, 2 86
Hereditary antithrombin deficiency 85
Hyperprolinemia type 2 85
Hypomyelination and Congenital Cataract 85
Microcephalic osteodysplastic primordial dwarfism type II 85
Nemaline myopathy 9 85
Nephronophthisis 9 85
Spondyloepimetaphyseal dysplasia, PAPSS2 type 85
Temtamy syndrome 85
CUBN-related condition 84
Common variable immunodeficiency 84
Larsen-like syndrome, B3GAT3 type 84
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 84
Syndromic X-linked intellectual disability Raymond type 84
ADCY3-related condition 83
CACNA1H-related condition 83
Cerebral folate transport deficiency 83
Finnish congenital nephrotic syndrome 83
Hyperphosphatasia with intellectual disability syndrome 5 83
Hypertrophic cardiomyopathy 19 83
Neurodegeneration with brain iron accumulation 6 83
Neutrophil immunodeficiency syndrome 83
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 83
Purine-nucleoside phosphorylase deficiency 83
Charcot-Marie-Tooth disease axonal type 2F 82
Ellis-van Creveld syndrome 82
Hereditary sensory and autonomic neuropathy with spastic paraplegia 82
Hereditary spastic paraplegia 31 82
Marshall-Smith syndrome; Malan overgrowth syndrome 82
Noonan syndrome 8 82
Noonan syndrome and Noonan-related syndrome 82
Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 82
Candidiasis, familial, 8 81
DMD-related condition 81
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 81
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 81
Immunodeficiency 67 81
MSH6-related condition 81
Primary ciliary dyskinesia 32 81
Type A2 brachydactyly; Acromesomelic dysplasia 3 81
Hepatic methionine adenosyltransferase deficiency 80
Hereditary spastic paraplegia 45 80
Hereditary spherocytosis type 1 80
Immunodeficiency 28 80
Nance-Horan syndrome 80
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 80
Susceptibility to respiratory infections associated with CD8alpha chain mutation 80
Cardiac arrhythmia, ankyrin-B-related 79
Cerebral cavernous malformation 79
Hereditary spastic paraplegia 2 79
Leber congenital amaurosis 7; Cone-rod dystrophy 2 79
Myosclerosis 79
Von Hippel-Lindau syndrome 79
Wagner syndrome 79
CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 78
Disseminated atypical mycobacterial infection 78
Fanconi anemia complementation group P 78
Rett syndrome 78
Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 77
Autosomal dominant pseudohypoaldosteronism type 1 77
Autosomal recessive nonsyndromic hearing loss 77 77
Developmental and epileptic encephalopathy, 21 77
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 77
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 77
Cornelia de Lange syndrome 5 76
Familial hypokalemia-hypomagnesemia 76
FBN1-related condition 75
Fibromatosis, gingival, 1 75
Glycogen storage disease XV; Polyglucosan body myopathy type 2 75
Hermansky-Pudlak syndrome 9 75
Joubert syndrome 25 75
MACF1-related condition 75
RECQL4-related condition 75
Weill-Marchesani syndrome 75
Age related macular degeneration 1 74
FREM2-related condition 74
Glycogen storage disease, type VI 74
Alzheimer disease 4 73
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 73
Cornelia de Lange syndrome 4 73
Epidermolysis bullosa dystrophica 73
FOCAD-related condition 73
Glycogen storage disease IXa1 73
Holoprosencephaly 3 73
Lymphoproliferative syndrome 2 73
Melnick-Fraser syndrome 73
Microcephaly 5, primary, autosomal recessive 73
Pulmonary hypertension, primary, 4 73
SETX-related condition 73
46,XY sex reversal 9 72
COL5A1-related condition 72
Charcot-Marie-Tooth disease type 4C 72
Cystinuria 72
Lynch syndrome 4 72
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 72
UNC13A-related condition 72
CDH1-related diffuse gastric and lobular breast cancer syndrome 71
CDH23-related condition 71
DNMT3A-related condition 71
FBN3-related condition 71
Griscelli syndrome type 2 71
RET-related condition 71
TERT-related condition 71
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 70
Brittle cornea syndrome 1 70
DICER1-related condition 70
DNAH1-related condition 70
Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 70
Ehlers-Danlos syndrome, classic type 70
Gingival disorder 70
Hereditary spastic paraplegia 6 70
Specific granule deficiency 70
DST-related condition 69
Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy 69
Juvenile myoclonic epilepsy 69
Juvenile onset Parkinson disease 19A 69
Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 69
Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 69
Primary ciliary dyskinesia 19 69
Primary ciliary dyskinesia 3 69
Retinitis pigmentosa 25 69
Atrial standstill 1; Atrial fibrillation, familial, 11 68
COL11A1-related condition 68
DNAH9-related condition 68
HSPG2-related condition 68
JAG1-related condition 68
Progressive encephalopathy with leukodystrophy due to DECR deficiency 68
TNXB-related condition 68
Telangiectasia, hereditary hemorrhagic, type 1 68
Agammaglobulinemia 2, autosomal recessive 67
Atrial fibrillation, familial, 18 67
COL6A2-related condition 67
COL6A3-related condition 67
Fanconi-Bickel syndrome 67
Hyper-IgM syndrome type 1 67
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 67
Sleep-related hypermotor epilepsy 67
COL1A1-related condition 66
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 66
Cone-Rod Dystrophy, Recessive 66
Developmental and epileptic encephalopathy, 69 66
Developmental disorder 66
FBN2-related condition 66
FLNC-related condition 66
Hyper-IgM syndrome type 2 66
Immunodeficiency 25 66
Left ventricular noncompaction cardiomyopathy 66
PHIP-related condition 66
Syndromic X-linked intellectual disability 14 66
Diamond-Blackfan anemia 8 65
Dilated cardiomyopathy 1II 65
Ehlers-Danlos syndrome, musculocontractural type 65
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 65
FSIP2-related condition 65
ITGB4-related condition 65
L-2-hydroxyglutaric aciduria 65
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 65
Pheochromocytoma 65
Sterile multifocal osteomyelitis with periostitis and pustulosis 65
TBX3-related condition 65
APOB-related condition 64
Agammaglobulinemia 3, autosomal recessive 64
Anterior segment dysgenesis 7 64
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 64
Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 64
CFTR-related disorders 64
D-2-hydroxyglutaric aciduria 2 64
DNAH11-related condition 64
KMT2C-related condition 64
Syndromic X-linked intellectual disability Hedera type 64
3-methylglutaconic aciduria type 1 63
ATP8B1-related condition 63
Amyotrophic lateral sclerosis type 8; Adult-onset proximal spinal muscular atrophy, autosomal dominant 63
CIC-related condition 63
COL4A1-related condition 63
DCHS1-related disorder 63
Dilated cardiomyopathy 1D 63
Duane-radial ray syndrome 63
Fanconi anemia complementation group C 63
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 63
Holoprosencephaly sequence 63
Hypercholesterolemia, autosomal dominant, type B 63
Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 63
LAMA2-related condition 63
MKS1-related condition 63
Multiple congenital anomalies-hypotonia-seizures syndrome 2 63
Occult macular dystrophy 63
Otospondylomegaepiphyseal dysplasia, autosomal dominant 63
Retinitis Pigmentosa, Dominant 63
ABCC2-related condition 62
Atypical hemolytic-uremic syndrome 62
CACNA1C-related disorder 62
Cardiomyopathy, familial restrictive, 3 62
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 62
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 62
Fanconi anemia complementation group D1 62
Hypertrophic cardiomyopathy 2 62
NLRP2-related condition 62
SEMA3G-related condition 62
Stickler Syndrome, Dominant 62
Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 61
COL11A2-related condition 61
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 61
Immunodeficiency, common variable, 4 61
Intellectual disability, autosomal dominant 16 61
Kabuki syndrome 1 61
Oxoglutaricaciduria 61
Pyogenic bacterial infections due to MyD88 deficiency 61
Sucrase-isomaltase deficiency 61
TRIO-related condition 61
Usher syndrome type 1F 61
ARID1A-related condition 60
Autosomal dominant nonsyndromic hearing loss 11 60
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 60
Charcot-Marie-Tooth disease type 2B 60
DOCK6-related condition 60
DYSF-related condition 60
Dilated cardiomyopathy 2B 60
Nephronophthisis-like nephropathy 1 60
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 60
SYNE2-related condition 60
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 60
Succinyl-CoA acetoacetate transferase deficiency 60
Wolfram syndrome 1 60
ARHGEF28-related condition 59
CRB2-related condition 59
Focal segmental glomerulosclerosis 59
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 59
Hyperinsulinism-hyperammonemia syndrome 59
PTPRS-related condition 59
Parkinson disease 17 59
X-linked lymphoproliferative disease due to XIAP deficiency 59
CELSR1-related condition 58
COL2A1-related condition 58
Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14 58
FLNB-related condition 58
Generalized pustular psoriasis 58
LRP5-related condition 58
MYO7A-related condition 58
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 58
Proteosome-associated autoinflammatory syndrome 58
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 58
Schneckenbecken dysplasia 58
ABCG8-related condition 57
Autosomal recessive ataxia, Beauce type 57
Cernunnos-XLF deficiency 57
Congenital disorder of glycosylation, type IIq 57
DYRK1B-related condition 57
FGFR3-related condition 57
Hereditary spastic paraplegia 64 57
LYST-related condition 57
MYH6-related condition 57
NBAS-related condition 57
Neuronal Ceroid-Lipofuscinosis, Recessive 57
Oculodentodigital dysplasia, autosomal recessive 57
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency 57
Pulmonary hypertension, primary, 2 57
SETD1B-related condition 57
Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy 57
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 57
Accelerated tumor formation, susceptibility to 56
Ariboflavinosis 56
CACNA1S-related condition 56
FADD-related immunodeficiency 56
FLNB-Related Spectrum Disorders 56
Fanconi anemia complementation group D2 56
Growth delay due to insulin-like growth factor I resistance 56
HMCN1-related condition 56
KIF1B-related condition 56
KMT2A-related condition 56
MSH2-related condition 56
MYH11-related condition 56
PRR12-related condition 56
RTEL1-related condition 56
Usher syndrome type 2A; Retinitis pigmentosa 39 56
Atrial fibrillation, familial, 14 55
DNAH2-related condition 55
DNAH5-related condition 55
Elliptocytosis 2 55
Hirschsprung disease, susceptibility to, 1; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; Pheochromocytoma; Familial medullary thyroid carcinoma; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 55
KSR2-related condition 55
MTOR-related condition 55
NCOR2-related condition 55
RELN-related condition 55
SH2B1-related condition 55
ABCB11-related condition 54
Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 54
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 54
Cataract 18 54
Charcot-Marie-Tooth disease X-linked dominant 6 54
Congenital disorder of glycosylation type Ir 54
EHHADH-related condition 54
GLI3-related condition 54
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 54
Immunodeficiency, common variable, 1 54
LZTR1-related condition 54
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 54
MYO18B-related condition 54
OTOG-related condition 54
PEX1-related condition 54
Peters plus syndrome 54
Primary ciliary dyskinesia 27 54
Reticular dysgenesis 54
ZFHX3-related condition 54
ACACB-related condition 53
ALG3-congenital disorder of glycosylation 53
ALG8 congenital disorder of glycosylation 53
Agenesis of the corpus callosum with peripheral neuropathy 53
Deficiency of 2-methylbutyryl-CoA dehydrogenase 53
FLCN-related condition 53
HIVEP2-related condition 53
History of neurodevelopmental disorder 53
ITPR1-related condition 53
MYH7-related condition 53
PCLO-related condition 53
RYR2-related condition 53
Renal hypodysplasia/aplasia 1 53
SEMA3E-related condition 53
SEMA3F-related condition 53
Stargardt Disease, Recessive 53
AFF4-related condition 52
ANK2-related condition 52
Adams-Oliver syndrome 4 52
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 52
BLTP1-related condition 52
COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 52
COL7A1-related condition 52
Congenital brain dysgenesis due to glutamine synthetase deficiency 52
DNHD1-related condition 52
Developmental and epileptic encephalopathy, 5 52
Dystonia 9 52
Encephalopathy due to GLUT1 deficiency 52
FREM1-related condition 52
Inflammatory bowel disease 52
LRP1B-related condition 52
MAP1B-related condition 52
MDN1-related condition 52
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 52
NCOA1-related condition 52
46,XY sex reversal 6 51
Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 51
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 51
Diabetic retinopathy 51
Diamond-Blackfan anemia 10 51
Ehlers-Danlos syndrome, classic type, 2 51
LRP1-related condition 51
NTRK2-related condition 51
SPEN-related condition 51
TJP2-related condition 51
TRRAP-related condition 51
TUBGCP6-related condition 51
Warts, hypogammaglobulinemia, infections, and myelokathexis 51
ALK-related condition 50
Arrhythmogenic right ventricular dysplasia 2 50
Atrial fibrillation, familial, 6 50
CDH1-related condition 50
Charcot-Marie-Tooth disease axonal type 2L 50
Combined immunodeficiency due to CD3gamma deficiency 50
Congenital sensory neuropathy with selective loss of small myelinated fibers 50
FASN-related condition 50
Glycogen storage disease type X 50
Hereditary spastic paraplegia 53 50
Hereditary spastic paraplegia 72 50
Hereditary von Willebrand disease 50
INPP5E-related condition 50
MLH1-related condition 50
MYO15A-related condition 50
Myoclonic dystonia 26 50
Neurodevelopmental abnormality 50
Orofaciodigital syndrome type 6; Joubert syndrome 17 50
TSC1-related condition 50
Thrombophilia due to activated protein C resistance 50
USH2A-related condition 50
WFS1-related condition 50
AHDC1-related condition 49
Autosomal dominant nonsyndromic hearing loss 17 49
BRIP1-related condition 49
COG4-congenital disorder of glycosylation 49
Childhood onset GLUT1 deficiency syndrome 2 49
DSP-related condition 49
Epilepsy, idiopathic generalized, susceptibility to, 12 49
Glycogen storage disorder due to hepatic glycogen synthase deficiency 49
Hereditary cryohydrocytosis with reduced stomatin 49
LAMA1-related condition 49
Leber congenital amaurosis 9 49
Pendred syndrome 49
SON-related condition 49
Autosomal recessive Alport syndrome; Benign familial hematuria 48
Charcot-Marie-Tooth disease type 1C 48
DYNC2H1-related condition 48
Deficiency of isobutyryl-CoA dehydrogenase 48
Deficiency of phosphoserine phosphatase 48
EP400-related condition 48
Elliptocytosis 48
FAT3-related condition 48
Fanconi anemia complementation group I 48
Hereditary spastic paraplegia 62 48
Hereditary xanthinuria type 1 48
Leber congenital amaurosis 12 48
Long QT syndrome 10 48
MYLK-related condition 48
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 48
RPGRIP1L-related condition 48
TP53-related condition 48
TUB-related condition 48
Temtamy preaxial brachydactyly syndrome 48
AGRN-related condition 47
Brunner syndrome 47
CCDC88C-related condition 47
Disorders of Intracellular Cobalamin Metabolism 47
Geleophysic dysplasia 47
Hermansky-Pudlak syndrome 47
KANK1-related condition 47
Malignant hyperthermia of anesthesia 47
Neonatal diabetes mellitus with congenital hypothyroidism 47
Neurofibromatosis, familial spinal 47
PALB2-related condition 47
RYR3-related condition 47
SEMA3C-related condition 47
SMPD1-related condition 47
ANKRD26-related condition 46
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 46
Bardet-Biedl syndrome 9 46