ClinVar for MedGen (Select 140251) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7832	NM_000314.8(PTEN):c.335T>C (p.Leu112Pro)	PTEN (L112P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 7814	NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)	PTEN (E157* +1 more)	Single nucleotide variant (nonsense +1 more)	PTEN hamartoma tumor syndrome	GPathogenicFDA Recognized database