ClinVar Miner

Variants in gene JAG1

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
314 98 733 667 212 6 1753

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alagille syndrome due to a JAG1 point mutation 195 60 364 536 104 5 1250
not provided 134 19 195 74 92 1 494
Cardiovascular phenotype 7 0 140 130 14 0 291
Isolated Nonsyndromic Congenital Heart Disease 0 0 68 19 57 0 144
JAG1-related condition 9 11 41 68 1 0 130
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 2 0 56 46 5 0 109
not specified 0 0 12 40 40 0 83
Inborn genetic diseases 2 0 22 1 0 0 25
Arteriohepatic dysplasia 2 1 10 2 0 0 15
Tetralogy of Fallot 4 1 5 0 5 0 15
Deafness, congenital heart defects, and posterior embryotoxon 1 1 0 0 5 0 6
Atypical coarctation of aorta 0 4 0 0 0 0 4
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon 0 0 3 0 0 0 3
Charcot-Marie-Tooth disease, axonal, Type 2HH 2 0 0 0 0 0 2
Hepatic Ductular Hypoplasia 0 2 0 0 0 0 2
JAG1-related disorders 2 0 0 0 0 0 2
Arteriohepatic dysplasia; Heart, malformation of 1 0 0 0 0 0 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 1 0 0 0 0 1
Retinal dystrophy 0 1 0 0 0 0 1
Scoliosis; Pes planus; Aortic dilatation 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1
Stroke disorder 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 160 20 346 537 103 0 1166
Ambry Genetics 9 0 162 131 14 0 316
GeneDx 73 7 51 54 90 1 276
Eurofins Ntd Llc (ga) 66 1 134 14 9 0 224
PreventionGenetics, part of Exact Sciences 9 11 41 80 22 0 163
Illumina Laboratory Services, Illumina 0 1 70 19 57 0 147
Fulgent Genetics, Fulgent Genetics 2 0 59 46 5 0 112
CeGaT Center for Human Genetics Tuebingen 4 5 4 17 5 0 35
Clinical Genetics, Academic Medical Center 0 0 0 3 24 0 27
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 3 6 16 0 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 2 12 0 18
OMIM 17 0 0 0 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 8 6 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 5 8 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 12 0 14
Revvity Omics, Revvity 2 1 10 0 0 0 13
Baylor Genetics 4 1 6 0 0 0 11
AiLife Diagnostics, AiLife Diagnostics 0 0 10 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 3 2 3 0 9
3billion 4 4 1 0 0 0 9
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 6 0 0 0 0 8
Mendelics 3 0 2 1 1 0 7
Genetic Services Laboratory, University of Chicago 0 0 1 3 2 0 6
Mayo Clinic Laboratories, Mayo Clinic 2 3 1 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 1 0 0 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 1 4 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 1 0 0 0 4
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 2 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Gharavi Laboratory, Columbia University 1 0 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Centre of Medical Genetics, University of Antwerp 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Athena Diagnostics Inc 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1

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