ClinVar Miner

List of variants reported as pathogenic for PTEN hamartoma tumor syndrome by OMIM

Included ClinVar conditions (19):
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Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
KLLN, PROMOTER HYPERMETHYLATION
NM_000314.4(PTEN):c.-764G>A rs587776674
NM_000314.4(PTEN):c.335T>C (p.Leu112Pro) rs121909230
NM_000314.4(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.4(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.6(PTEN):c.-861G>T rs587776675
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.6(PTEN):c.347_351delACAAT (p.Asp116Alafs) rs587776666
NM_000314.6(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.6(PTEN):c.492+2T>G rs1554898244
NM_000314.6(PTEN):c.507delC (p.Ser170Valfs) rs587776673
NM_000314.6(PTEN):c.586delC (p.His196Thrfs) rs587776670
NM_000314.6(PTEN):c.696delA (p.Arg233Aspfs) rs587776669
NM_000314.6(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.40dup (p.Arg14Lysfs) rs587776671
NM_000314.7(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.534_535delTAinsAT (p.Tyr178Ter) rs397515374
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_001014431.1(AKT1):c.1303A>C (p.Thr435Pro) rs397514645
NM_001014431.1(AKT1):c.73C>T (p.Arg25Cys) rs397514644
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_006218.3(PIK3CA):c.1066G>A (p.Val356Ile) rs587777793
NM_006218.3(PIK3CA):c.1145G>A (p.Arg382Lys) rs587777794
NM_006218.3(PIK3CA):c.1895T>G (p.Leu632Ter) rs587777796
NM_006218.3(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.3(PIK3CA):c.403G>A (p.Glu135Lys) rs587777791
NM_006218.3(PIK3CA):c.652G>A (p.Glu218Lys) rs587777792
NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC]
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly) rs752366963
PTEN, 1-BP DEL, 179G
PTEN, CYS124SER
PTEN, DEL

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