ClinVar Miner

Variants in gene PTEN with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.7(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.7(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.80-1_80del rs1554893747
Single allele

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