List of variants in gene TUBB2A reported as uncertain significance for complex cortical dysplasia with other brain malformations 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys)	rs1054331	0.00002
NM_001069.3(TUBB2A):c.1099T>C (p.Phe367Leu)	rs1581496432
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)	rs1057521250
NM_001069.3(TUBB2A):c.278-7C>T	rs1581497078
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu)	rs1554122947
NM_001069.3(TUBB2A):c.928T>C (p.Tyr310His)	rs2113785190
NM_001069.3(TUBB2A):c.935C>T (p.Thr312Met)	rs1762595316

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.