ClinVar Miner

List of variants reported as pathogenic for PTEN hamartoma tumor syndrome by ClinGen PTEN Variant Curation Expert Panel

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.7(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.7(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.7(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.7(PTEN):c.493-2A>G rs587781784
NM_000314.7(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.7(PTEN):c.802-2A>T rs587782455
NM_000314.7(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.7(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_001304718.2(PTEN):c.-359C>T rs397514560
NM_001304718.2(PTEN):c.-363C>G rs121909224
NM_001304718.2(PTEN):c.-58_-57delinsAT rs397515374
NM_001304718.2(PTEN):c.-602T>G rs121909225
NM_001304718.2(PTEN):c.-656_-655del rs587781912
NM_001304718.2(PTEN):c.-666dup rs587776671
NM_001304718.2(PTEN):c.-6del rs587776670
NM_001304718.2(PTEN):c.-80dup rs1114167632
NM_001304718.2(PTEN):c.-85del rs587776673

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