ClinVar Miner

Variants in gene NSD1

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 total
272 75 207 147 68 1 706

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Sotos syndrome 1 174 34 37 6 1 0 251
not provided 91 29 72 3 2 0 196
Beckwith-Wiedemann syndrome 42 7 49 21 25 0 144
not specified 0 0 7 73 52 0 119
Sotos syndrome 0 0 51 51 16 0 118
Weaver syndrome 0 0 51 51 16 0 118
History of neurodevelopmental disorder 0 0 9 32 21 0 62
Sotos syndrome 1; Acute myeloid leukemia 3 1 4 0 0 0 8
Inborn genetic diseases 4 1 1 0 0 0 6
Beckwith-Wiedemann syndrome; Sotos syndrome 1 0 1 1 0 0 0 2
See cases 2 0 0 0 0 0 2
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
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
Neurodevelopmental disorder 0 1 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
Spastic paraplegia 8 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Genetic Services Laboratory, University of Chicago 146 25 35 17 37 0 260
GeneDx 81 26 10 32 10 0 159
Invitae 42 7 49 21 25 0 144
Illumina Clinical Services Laboratory,Illumina 0 0 51 51 16 0 118
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13 0 57 6 26 0 102
Ambry Genetics 4 1 10 32 21 0 68
PreventionGenetics 0 0 0 25 21 0 46
Center for Human Genetics, Inc 4 5 6 5 1 0 21
OMIM 13 0 0 0 0 0 13
Fulgent Genetics 2 0 5 0 0 0 7
Baylor Miraca Genetics Laboratories, 6 0 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 2 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 1 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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 1 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.