ClinVar Miner

Variants in gene NSD1

Minimum submission review status: Collection method:
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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 other total
344 106 286 187 78 1 913

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Sotos syndrome 1 256 65 174 31 3 0 513
not provided 103 32 81 61 13 0 281
Beckwith-Wiedemann syndrome 55 13 72 24 31 0 195
not specified 0 0 7 75 52 0 121
History of neurodevelopmental disorder 0 0 9 32 21 0 62
Sotos syndrome 0 0 12 5 1 0 18
Weaver syndrome 0 0 12 5 1 0 18
Inborn genetic diseases 10 1 1 0 0 0 12
Sotos syndrome 1; Acute myeloid leukemia 3 1 4 0 0 0 8
Intellectual disability 1 0 0 3 0 0 4
Beckwith-Wiedemann syndrome; Sotos syndrome 1 0 1 1 0 0 0 2
Neurodevelopmental disorder 0 2 0 0 0 0 2
See cases 2 0 0 0 0 0 2
Acute myeloid leukemia 1 0 0 0 0 0 1
Autistic disorder of childhood onset; Cryptorchidism; Hypertelorism; Cleft uvula; Seizures; 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 1
Choroid plexus carcinoma 0 0 0 0 0 1 1
Hereditary spastic paraplegia 8 0 0 1 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 1
Marfanoid habitus and intellectual disability 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Non-immune hydrops fetalis 1 0 0 0 0 0 1
Preeclampsia; Tall stature; Overgrowth; Pointed chin; Delayed speech and language development; Macrocephalus; High forehead; Osteopenia; Increased body weight 0 1 0 0 0 0 1
Seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Invitae 99 27 146 94 38 0 402
Genetic Services Laboratory, University of Chicago 146 25 32 19 38 0 260
GeneDx 91 26 10 35 14 0 176
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 13 0 57 6 26 0 102
Ambry Genetics 10 1 10 32 21 0 74
PreventionGenetics, PreventionGenetics 0 0 0 25 21 0 46
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 11 6 0 0 23
Center for Human Genetics, Inc,Center for Human Genetics, Inc 4 5 6 5 1 0 21
Illumina Clinical Services Laboratory,Illumina 0 0 12 5 1 0 18
Baylor Genetics 8 0 6 0 0 0 14
OMIM 13 0 0 0 0 0 13
Mendelics 7 1 3 0 2 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 4 0 0 0 8
Fulgent Genetics,Fulgent Genetics 2 0 5 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 0 0 3 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 0 0 0 5
Clinical Genetics laboratory, University of Goettingen 0 3 0 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 2 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1

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