C1854416[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Glioma susceptibility 2 +8 more	GPathogenic
Select item 189500	NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	PTEN (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 187827	NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)	PTEN (L182S +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 2674416	NM_000314.8(PTEN):c.731del (p.Pro244fs)	PTEN (P244fs +2 more)	Deletion (frameshift variant)	Cowden syndrome 1 +1 more	GPathogenic
Select item 2502345	NM_000314.8(PTEN):c.827A>G (p.Asn276Ser)	PTEN (N276S +2 more)	Single nucleotide variant (missense variant)	Macrocephaly-autism syndrome	GPathogenic
Select item 184277	NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)	PTEN (T277I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 71118	NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)	PTEN	Microsatellite (nonsense)	not provided +5 more	GPathogenic

ClinVar