ClinVar Miner

List of intergenic variants studied for Hypertelorism; Hyperhydroxyprolinemia; Enuresis; Sleep disturbance; Tall stature; Eczema; Delayed speech and language development; Frontal bossing; Triangular face; Thin upper lip vermilion; Recurrent otitis media; Microdontia; Neutropenia; Hypertriglyceridemia; Downturned corners of mouth; Increased blood urea nitrogen; Hypertyrosinemia; Sensory impairment; Delayed fine motor development; Abnormality of serine family amino acid metabolism; Bronchiolitis; Monocytopenia; Abnormal emotion/affect behavior; Encopresis; Asthma

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet
HGVS dbSNP
46;XY;t(16;20)(q23.1;p11.22)

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.