ClinVar Miner

List of variants reported as likely pathogenic for PTEN hamartoma tumor syndrome

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Total variants: 62
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HGVS dbSNP
NM_000314.4(PTEN):c.801+1delG rs1060500110
NM_000314.6(PTEN):c.253+1dup rs876660082
NM_000314.6(PTEN):c.492+1_492+5del rs1554898238
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.1026+2T>G rs1114167624
NM_000314.7(PTEN):c.1027-2A>G rs1085308041
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.165-17_165del rs1554897240
NM_000314.7(PTEN):c.165-1G>A rs786203847
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.181C>G (p.His61Asp) rs121909236
NM_000314.7(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.7(PTEN):c.202T>G (p.Tyr68Asp) rs398123317
NM_000314.7(PTEN):c.209+2T>A rs878853937
NM_000314.7(PTEN):c.209+2T>C
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.210-2A>G rs1564828914
NM_000314.7(PTEN):c.210-6_210-2del rs1564828909
NM_000314.7(PTEN):c.253+1G>A rs587776667
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000314.7(PTEN):c.254-1G>A rs1057520208
NM_000314.7(PTEN):c.270dup (p.Glu91Ter) rs1114167678
NM_000314.7(PTEN):c.275A>G (p.Asp92Gly)
NM_000314.7(PTEN):c.277C>T (p.His93Tyr)
NM_000314.7(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.7(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.7(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.7(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.7(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.7(PTEN):c.441_442delinsA (p.Ala148fs) rs1114167641
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.7(PTEN):c.492+2T>G rs1554898244
NM_000314.7(PTEN):c.492+2del rs1060500124
NM_000314.7(PTEN):c.493-1G>A rs786204862
NM_000314.7(PTEN):c.493-2A>C rs587781784
NM_000314.7(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.7(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.7(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.7(PTEN):c.740T>C (p.Leu247Ser) rs1057519368
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.761_765del (p.Lys254fs) rs606231169
NM_000314.7(PTEN):c.80-1G>C rs786204914
NM_000314.7(PTEN):c.802-2del rs886047397
NM_000314.7(PTEN):c.802-4_804delinsA rs1064792911
NM_000314.7(PTEN):c.884_900delinsG (p.Leu295fs) rs1114167680
NM_000314.7(PTEN):c.94_96ATT[1] (p.Ile33del) rs1554893765
NM_000314.7(PTEN):c.964A>T (p.Lys322Ter) rs786202004

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