"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810888	NM_000314.8(PTEN):c.-511G>A	PTEN (G4R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 440216	NC_000010.11:g.87864104del	PTEN	Deletion	not specified +1 more	GBenign
Select item 440217	NM_000314.8(PTEN):c.-326G>C	PTEN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 440219	NM_000314.8(PTEN):c.80-96A>G	PTEN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1292390	NM_000314.8(PTEN):c.253+109_253+110insTCTTA	PTEN	Insertion (intron variant)	not specified +1 more	GBenign
Select item 92831	NM_000314.8(PTEN):c.802-3dup	PTEN	Duplication (intron variant)	Malignant tumor of prostate +8 more	GBenign
Select item 2687759	NM_000314.8(PTEN):c.866A>G (p.Lys289Arg)	PTEN (K289R +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 92810	NM_000314.8(PTEN):c.1026+32T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database

ClinVar