C1854416[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 468682	NM_000314.8(PTEN):c.37A>T (p.Lys13Ter)	PTEN (K13* +1 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly-autism syndrome +1 more	GPathogenic
Select item 1333229	NM_000314.8(PTEN):c.66C>G (p.Asp22Glu)	PTEN (D195E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 822660	NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	PTEN (I101T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate +8 more	GPathogenic OOncogenic
Select item 1333638	NM_000314.8(PTEN):c.493-1G>T	PTEN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1320095	NM_000314.8(PTEN):c.784_785del (p.Asn262fs)	PTEN (N262fs +2 more)	Deletion (frameshift variant)	Macrocephaly-autism syndrome	GPathogenic
Select item 71118	NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)	PTEN	Microsatellite (nonsense)	Cowden syndrome 1 +6 more	GPathogenic OOncogenic

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