ClinVar Miner

List of variants in gene PTEN reported as uncertain significance for Macrocephaly/autism syndrome; Meningioma, familial; Malignant tumor of prostate; VACTERL association with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-943C>T rs587779999
NM_000314.7(PTEN):c.-665G>A rs553371022
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-821G>T rs587779993
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007

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