ClinVar Miner

List of variants in gene PTEN reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 32
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HGVS dbSNP
NM_000314.7(PTEN):c.*8T>G rs727504115
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.1018A>G (p.Asn340Asp) rs759852661
NM_000314.7(PTEN):c.1026G>C (p.Lys342Asn) rs398123314
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.7(PTEN):c.1104T>A (p.Asp368Glu) rs35979531
NM_000314.7(PTEN):c.1171C>T (p.Pro391Ser) rs786203911
NM_000314.7(PTEN):c.122G>T (p.Arg41Ile) rs794727244
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.190C>T (p.His64Tyr) rs587781535
NM_000314.7(PTEN):c.202T>A (p.Tyr68Asn) rs398123317
NM_000314.7(PTEN):c.208C>T (p.Leu70Phe) rs794727480
NM_000314.7(PTEN):c.209+3A>T rs786202612
NM_000314.7(PTEN):c.265C>T (p.Pro89Ser) rs587783059
NM_000314.7(PTEN):c.304A>C (p.Lys102Gln) rs786202944
NM_000314.7(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.7(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.7(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.7(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.7(PTEN):c.715A>G (p.Met239Val) rs786201758
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.73T>G (p.Leu25Val) rs398123326
NM_000314.7(PTEN):c.830C>A (p.Thr277Lys) rs398123329
NM_000314.7(PTEN):c.841C>G (p.Pro281Ala) rs750705904
NM_000314.7(PTEN):c.886T>C (p.Cys296Arg) rs786202207
NM_000314.7(PTEN):c.88C>A (p.Pro30Thr) rs794727243
NM_000314.7(PTEN):c.916A>G (p.Ile306Val) rs786203858
NM_000314.7(PTEN):c.923G>A (p.Arg308His) rs786201507
NM_001304718.2(PTEN):c.-447_-445dup rs587782641

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