"Department of Molecular Diagnostics, Institute of Oncology Ljubljana" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7821	NM_000314.8(PTEN):c.492+2T>G	PTEN	Single nucleotide variant (splice donor variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 1012208	NM_000314.8(PTEN):c.916dup (p.Ile306fs)	PTEN (I109fs +2 more)	Duplication (frameshift variant)	Cowden syndrome 1	GLikely pathogenic