ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000314.4(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.4(PTEN):c.50_51delAA (p.Gln17Argfs) rs587781912
NM_000314.4(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.4(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.4(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.6(PTEN):c.1026+1G>A rs786201041
NM_000314.6(PTEN):c.209+4_209+7delAGTA rs398123318
NM_000314.6(PTEN):c.493-2A>G rs587781784
NM_000314.6(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.6(PTEN):c.586delC (p.His196Thrfs) rs587776670
NM_000314.6(PTEN):c.802-2A>T rs587782455
NM_000314.6(PTEN):c.987_990del (p.Asn329Lysfs) rs587782304
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.392C>T (p.Thr131Ile) rs397514560
NM_000314.7(PTEN):c.40dup (p.Arg14Lysfs) rs587776671
NM_000314.7(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.7(PTEN):c.534_535delTAinsAT (p.Tyr178Ter) rs397515374
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) rs121909228

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