ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic by Clingen PTEN Variant Curation Expert Panel, Clingen

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del) rs1589617371
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.8(PTEN):c.181C>G (p.His61Asp) rs121909236
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.270dup (p.Glu91Ter) rs1114167678
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs) rs1114167641
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr) rs398123324
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.8(PTEN):c.59G>T (p.Gly20Val) rs1064795967
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.64G>C (p.Asp22His) rs876660420
NM_000314.8(PTEN):c.67T>G (p.Leu23Val) rs876661244
NM_000314.8(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.8(PTEN):c.740T>C (p.Leu247Ser) rs1057519368
NM_000314.8(PTEN):c.761_765del (p.Lys254fs) rs606231169
NM_000314.8(PTEN):c.80-1G>C rs786204914
NM_000314.8(PTEN):c.802-2del rs886047397
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs) rs1114167680
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp) rs1859093459
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter) rs786202004

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