ClinVar Miner

List of variants in gene NSD1 studied for 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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet
HGVS dbSNP
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105

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.