ClinVar Miner

Variants in gene PTEN with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
Download table as spreadsheet
HGVS dbSNP
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-837C>T rs786201900
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.253+4_253+7del rs876659695
NM_000314.7(PTEN):c.42G>A (p.Arg14=) rs1064794513
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.75G>A (p.Leu25=) rs786201506
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.80-8del rs1060503844
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
Single allele

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.