List of variants in gene PTEN reported as likely pathogenic by Mendelics

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000010.11:g.87965287del	rs2132289111
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)	rs1554826024
NM_000314.8(PTEN):c.105G>A (p.Met35Ile)	rs1554893782
NM_000314.8(PTEN):c.209+2T>C	rs878853937
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)	rs869312775
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	rs786204929
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)	rs797044910
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)	rs1554893765

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.