"Centogene AG - the Rare Disease Company"[submitter] AND "PTEN"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334095	NM_000314.8(PTEN):c.3_27del (p.Met1fs)	PTEN (M174fs +1 more)	Deletion (frameshift variant +2 more)	Cowden syndrome 1	GLikely pathogenic
Select item 536556	NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)	PTEN (Y16* +1 more)	Single nucleotide variant (nonsense +1 more)	Cowden syndrome 1 +3 more	GPathogenic
Select item 427616	NM_000314.8(PTEN):c.210-1G>A	PTEN	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 375958	NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)	PTEN (R130G +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic 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)	Cowden syndrome 1 +8 more	GPathogenic
Select item 7829	NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	PTEN (R130Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 92822	NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)	PTEN (G132D +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 974864	NM_000314.8(PTEN):c.529T>C (p.Tyr177His)	PTEN (Y177H +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 1334096	NM_000314.8(PTEN):c.898del (p.Ile300fs)	PTEN (I103fs +2 more)	Deletion (frameshift variant)	Cowden syndrome 1	GLikely pathogenic
Select item 1334097	NM_000314.8(PTEN):c.966_996del (p.Asn323fs)	PTEN (N126fs +2 more)	Deletion (frameshift variant)	Cowden syndrome 1	GLikely pathogenic