ClinVar Miner

List of variants reported as pathogenic for PTEN hamartoma tumor syndrome by Herman Laboratory, Nationwide Children's Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.8(PTEN):c.164+1G>C rs1554893835
NM_000314.8(PTEN):c.165-2A>G rs1085308043
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.253+1G>C rs587776667
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.8(PTEN):c.316G>T (p.Glu106Ter) rs1085308039
NM_000314.8(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.8(PTEN):c.35A>C (p.Asn12Thr) rs1085308044
NM_000314.8(PTEN):c.369C>G (p.His123Gln) rs1085308045
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.416T>G (p.Leu139Ter) rs1085308048
NM_000314.8(PTEN):c.420dup (p.His141fs) rs1085308050
NM_000314.8(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000314.8(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.8(PTEN):c.605C>T (p.Thr202Ile) rs1085308053
NM_000314.8(PTEN):c.607_608del (p.Ile203fs) rs1085308054
NM_000314.8(PTEN):c.617_621del (p.Phe206fs) rs1085308055
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter) rs1085308049
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.821G>T (p.Trp274Leu) rs786204875
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.