ClinVar Miner

List of variants in gene FGFR2 reported as likely pathogenic for Hypertelorism; High palate; Low-set ears; Cranial asymmetry; Abnormality of the pinna; Downslanted palpebral fissures; Flat occiput; Narrow forehead; Short neck; Hydrocephalus; Brachyturricephaly; Wide anterior fontanel; Facial asymmetry; High forehead; Choanal stenosis; Shallow orbits; Abnormality of the posterior cranial fossa; Deviated nasal septum; Dilation of lateral ventricles; Hypointensity of cerebral white matter on MRI; Abnormality of the zygomatic bone; Mild fetal ventriculomegaly

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet
NM_022970.3(FGFR2):c.1087+1319C>G rs121918494

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.