List of variants studied for Familial cancer of breast; Hemifacial myohyperplasia; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; CLAPO syndrome; CLOVES syndrome; Ovarian cancer; Cerebral cavernous malformation 4; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.2980C>T (p.His994Tyr)	rs1160295534	0.00003
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser)	rs746860750	0.00002
NM_006218.4(PIK3CA):c.1494G>T (p.Trp498Cys)	rs1271146910	0.00001
NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys)	rs1724506239
NM_006218.4(PIK3CA):c.1189C>T (p.Pro397Ser)
NM_006218.4(PIK3CA):c.1442G>A (p.Ser481Asn)
NM_006218.4(PIK3CA):c.1476T>G (p.Ile492Met)	rs557949672
NM_006218.4(PIK3CA):c.1701A>T (p.Lys567Asn)
NM_006218.4(PIK3CA):c.1860A>T (p.Glu620Asp)
NM_006218.4(PIK3CA):c.1873G>A (p.Asp625Asn)
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)	rs1576943715
NM_006218.4(PIK3CA):c.2949G>A (p.Met983Ile)
NM_006218.4(PIK3CA):c.314T>G (p.Val105Gly)

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.