"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "PT - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92808	NM_000314.8(PTEN):c.-9C>G	PTEN (L171V)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 184205	NM_000314.8(PTEN):c.66C>T (p.Asp22=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome +2 more	GLikely benign
Select item 2505479	NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)	PTEN (E216G +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of breast	GUncertain significance
Select item 92813	NM_000314.8(PTEN):c.132C>T (p.Gly44=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 388560	NM_000314.8(PTEN):c.165-17G>C	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome +3 more	GLikely benign
Select item 2573183	NM_000314.8(PTEN):c.170dup (p.Leu57fs)	PTEN (L230fs +1 more)	Duplication (frameshift variant +1 more)	Cowden syndrome 1	GPathogenic
Select item 379793	NM_000314.8(PTEN):c.210-9T>C	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 492323	NM_000314.8(PTEN):c.254-40A>G	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1 +1 more	GLikely benign
Select item 2574568	NM_000314.8(PTEN):c.661A>T (p.Lys221Ter)	PTEN (K221* +2 more)	Single nucleotide variant (nonsense)	Cowden syndrome 1 +1 more	GPathogenic
Select item 385642	NM_000314.8(PTEN):c.802-6T>G	PTEN	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2573217	NM_000314.8(PTEN):c.802-5T>G	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1	GBenign
Select item 184295	NM_000314.8(PTEN):c.900C>T (p.Ile300=)	PTEN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 92810	NM_000314.8(PTEN):c.1026+32T>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 2573182	NM_000314.8(PTEN):c.1027-11_1028del	PTEN	Deletion (splice acceptor variant)	Cowden syndrome 1	GLikely pathogenic
Select item 138835	NM_000314.8(PTEN):c.1104T>C (p.Asp368=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database