List of variants in gene PIK3CA reported as likely pathogenic for central nervous system malformation

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)	rs886042002	0.00001
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn)	rs1064793349
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg)	rs1576935161
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)	rs1724674149
NM_006218.4(PIK3CA):c.1345C>T (p.Pro449Ser)	rs1724674149
NM_006218.4(PIK3CA):c.1616C>G (p.Pro539Arg)	rs121913285
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	rs121913275
NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	rs1057519929
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_006218.4(PIK3CA):c.3127A>C (p.Met1043Leu)	rs1057519936
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)	rs1724343994

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.