ClinVar Miner

List of variants in gene COL1A1 studied for Hypertelorism; Skeletal dysplasia; Cranial asymmetry; Pathologic fracture; Abnormality of the pinna; Anteverted nares; Blue sclerae; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Flat occiput; Premature birth; Triangular face; Wide anterior fontanel; Low-set, posteriorly rotated ears; Osteopenia; Generalized hypotonia; Bowing of limbs due to multiple fractures; Fractures of the long bones; Craniofacial disproportion; Decreased calvarial ossification; Crumpled long bones; Maternal hypertension; Rhizomelia; Neonatal short-limb short stature; Wide cranial sutures; Neonatal asphyxia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet
NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965

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.