CN072330[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664745	NM_000314.8(PTEN):c.178A>C (p.Lys60Gln)	PTEN (K233Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +1 more	GUncertain significance
Select item 142397	NM_000314.8(PTEN):c.210-7_210-3del	PTEN	Microsatellite (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN-related disorder +8 more	GPathogenic
Select item 428237	NM_000314.8(PTEN):c.463T>C (p.Tyr155His)	PTEN (Y155H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 127695	NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	PTEN (Q298E +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 7833	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN (R335* +2 more)	Single nucleotide variant (nonsense)	Cowden syndrome +11 more	GPathogenic

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