ClinVar Miner

Variants in gene NSD1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 other not provided total
411 177 623 472 199 1 2 1652

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Sotos syndrome 309 115 352 296 120 0 2 1083
not provided 128 48 216 149 114 0 0 614
Inborn genetic diseases 18 1 74 110 33 0 0 236
not specified 2 0 19 57 57 0 0 126
NSD1-related condition 3 5 27 37 7 0 0 79
Beckwith-Wiedemann syndrome 25 5 5 3 1 0 0 39
Weaver syndrome 0 0 12 5 1 0 0 18
See cases 3 5 1 0 0 0 0 9
Acute myeloid leukemia; Sotos syndrome 2 1 3 0 0 0 0 6
Intellectual disability 1 0 0 3 0 0 0 4
Neurodevelopmental disorder 2 2 0 0 0 0 0 4
Beckwith-Wiedemann syndrome; Sotos syndrome 0 1 1 0 0 0 0 2
Abnormal cerebral morphology 0 0 1 0 0 0 0 1
Acute myeloid leukemia 1 0 0 0 0 0 0 1
Autism; Cryptorchidism; Hypertelorism; Bifid uvula; Seizure; Cognitive impairment; Scoliosis; Patent foramen ovale; Prominent supraorbital ridges; Hypermetropia; Disproportionate tall stature; Pectus carinatum; Highly arched eyebrow; Overfolding of the superior helices; Talipes valgus; Chronic lung disease; Midface retrusion; Cleft palate 1 0 0 0 0 0 0 1
Choroid plexus carcinoma 0 0 0 0 0 1 0 1
Hereditary cancer 0 0 0 1 0 0 0 1
Hereditary spastic paraplegia 8 0 0 1 0 0 0 0 1
Holoprosencephaly 2 0 1 0 0 0 0 0 1
Hypertelorism; Global developmental delay; Scoliosis; Hypoplasia of the corpus callosum; Delayed speech and language development; Delayed gross motor development; High anterior hairline 0 1 0 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 0 1
Non-immune hydrops fetalis 1 0 0 0 0 0 0 1
Preeclampsia; Tall stature; Overgrowth; Pointed chin; Delayed speech and language development; Macrocephaly; High forehead; Osteopenia; Increased body weight 0 1 0 0 0 0 0 1
Seizure 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 142 36 230 273 103 0 0 784
GeneDx 106 37 113 96 120 0 0 472
Genetic Services Laboratory, University of Chicago 141 23 34 20 40 0 0 258
Ambry Genetics 18 1 74 110 33 0 0 236
Genome-Nilou Lab 49 11 30 40 59 0 0 189
PreventionGenetics, part of Exact Sciences 3 5 27 58 28 0 0 121
Eurofins Ntd Llc (ga) 12 0 56 6 26 0 0 100
Fulgent Genetics, Fulgent Genetics 2 2 57 31 7 0 0 99
CeGaT Center for Human Genetics Tuebingen 9 3 24 49 6 0 0 91
Mendelics 12 2 3 1 5 0 0 23
Baylor Genetics 8 3 10 0 0 0 0 21
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 5 6 5 1 0 0 20
Revvity Omics, Revvity 4 2 13 0 0 0 0 19
Illumina Laboratory Services, Illumina 1 0 12 5 1 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 12 0 0 19
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 17 0 0 0 0 18
OMIM 13 0 0 0 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 9 1 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 2 2 0 0 0 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 1 10 0 0 13
New York Genome Center 0 1 12 0 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 2 1 1 0 0 0 12
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 9 2 0 0 11
MGZ Medical Genetics Center 3 3 4 0 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 1 0 3 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 4 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 0 4 1 0 0 0 8
3billion 3 3 2 0 0 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 5 3 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 5 1 0 0 0 0 8
Institute of Human Genetics, University of Goettingen 1 5 0 1 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 3 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 3 0 0 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 2 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 2 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 0 0 0 0 3
Department of Medical Genetics, National Institute of Health 3 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 2 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
DASA 3 0 0 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Athena Diagnostics Inc 1 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 0 0 1

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