ClinVar Miner

List of variants in gene PTEN reported as pathogenic for Cowden syndrome 1

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Total variants: 57
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HGVS dbSNP
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
NM_000314.4(PTEN):c.-764G>A rs587776674
NM_000314.4(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.4(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.4(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.6(PTEN):c.-861G>T rs587776675
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.1016del (p.Pro339Glnfs) rs1554825643
NM_000314.6(PTEN):c.1026+1G>A rs786201041
NM_000314.6(PTEN):c.1026+1G>C rs786201041
NM_000314.6(PTEN):c.1027-2A>C rs1085308041
NM_000314.6(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.6(PTEN):c.165-1G>C rs786203847
NM_000314.6(PTEN):c.165-2A>G rs1085308043
NM_000314.6(PTEN):c.209+4_209+7delAGTA rs398123318
NM_000314.6(PTEN):c.209+5G>A rs1114167650
NM_000314.6(PTEN):c.210-1G>A rs1114167621
NM_000314.6(PTEN):c.210-4_210-1delTTAG rs1554897854
NM_000314.6(PTEN):c.253+1G>A rs587776667
NM_000314.6(PTEN):c.253+1G>T rs587776667
NM_000314.6(PTEN):c.253+5G>A rs1554897889
NM_000314.6(PTEN):c.253+5G>T rs1554897889
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.389delG (p.Arg130Glnfs) rs121913292
NM_000314.6(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.6(PTEN):c.492+1G>T rs1554898242
NM_000314.6(PTEN):c.492+2T>G rs1554898244
NM_000314.6(PTEN):c.493-2A>G rs587781784
NM_000314.6(PTEN):c.507delC (p.Ser170Valfs) rs587776673
NM_000314.6(PTEN):c.586delC (p.His196Thrfs) rs587776670
NM_000314.6(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.6(PTEN):c.634+1G>C rs1114167622
NM_000314.6(PTEN):c.634+2T>C rs727504114
NM_000314.6(PTEN):c.634+4A>T rs1554900675
NM_000314.6(PTEN):c.634+5G>C rs138336847
NM_000314.6(PTEN):c.635-1G>C rs876661024
NM_000314.6(PTEN):c.696delA (p.Arg233Aspfs) rs587776669
NM_000314.6(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.6(PTEN):c.802-2A>G rs587782455
NM_000314.6(PTEN):c.802-2A>T rs587782455
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.6(PTEN):c.955_958delACTT (p.Thr319Terfs) rs146650273
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
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.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.534_535delTAinsAT (p.Tyr178Ter) rs397515374
NM_000314.7(PTEN):c.654C>A (p.Cys218Ter)
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.7(PTEN):c.79+7A>G rs374331677
PTEN, 1-BP DEL, 179G
PTEN, CYS124SER
PTEN, DEL

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