ClinVar Miner

List of variants reported as likely pathogenic for Cortical dysplasia, complex, with other brain malformations 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro) rs863224939

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.