"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 27

	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	GBenignFDA Recognized database
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 benignFDA Recognized database
Select item 142397	NM_000314.8(PTEN):c.210-7_210-3del	PTEN	Microsatellite (intron variant)	PTEN hamartoma tumor syndrome	GBenignFDA Recognized database
Select item 379793	NM_000314.8(PTEN):c.210-9T>C	PTEN	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 41682	NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)	PTEN (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benignFDA Recognized database
Select item 1134280	NM_000314.8(PTEN):c.253+7A>G	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 925898	NM_000314.8(PTEN):c.450G>A (p.Glu150=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 2691233	NM_000314.8(PTEN):c.545_546dup (p.Lys183Ter)	PTEN (K183* +1 more)	Duplication (nonsense +1 more)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 135911	NM_000314.8(PTEN):c.579G>A (p.Leu193=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benignFDA Recognized database
Select item 412799	NM_000314.8(PTEN):c.801+9T>C	PTEN	Single nucleotide variant (intron variant)	Cowden syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 220416	NM_000314.8(PTEN):c.802-51_802-14del	PTEN	Deletion (intron variant)	PTEN hamartoma tumor syndrome	GBenignFDA Recognized database
Select item 189427	NM_000314.8(PTEN):c.802-18_802-14del	PTEN	Microsatellite (intron variant)	Cowden syndrome 1 +3 more	GBenign/Likely benign
Select item 802611	NM_000314.8(PTEN):c.802-5_802-3dup	PTEN	Duplication (intron variant)	Cowden syndrome 1 +9 more	GBenign/Likely benign
Select item 92832	NM_000314.8(PTEN):c.802-4_802-3dup	PTEN	Duplication (intron variant)	Breast and/or ovarian cancer +8 more	GBenign/Likely benign
Select item 92830	NM_000314.8(PTEN):c.802-18C>T	PTEN	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +2 more	GBenign/Likely benign
Select item 229656	NM_000314.8(PTEN):c.802-5_802-3del	PTEN	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 229653	NM_000314.8(PTEN):c.802-3del	PTEN	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 92833	NM_000314.8(PTEN):c.802-4_802-3del	PTEN	Deletion (intron variant)	Cowden syndrome 1 +3 more	GBenign/Likely benign
Select item 928467	NM_000314.8(PTEN):c.802-13T>C	PTEN	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +3 more	GLikely benign
Select item 468719	NM_000314.8(PTEN):c.838A>G (p.Ile280Val)	PTEN (I280V +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database
Select item 184466	NM_000314.8(PTEN):c.841C>G (p.Pro281Ala)	PTEN (P281A +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database
Select item 183799	NM_000314.8(PTEN):c.855A>G (p.Glu285=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +5 more	GBenign/Likely benign
Select item 230554	NM_000314.8(PTEN):c.949G>A (p.Val317Ile)	PTEN (V317I +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +3 more	GUncertain significance
Select item 143020	NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)	PTEN (P354Q +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benignFDA Recognized database
Select item 138835	NM_000314.8(PTEN):c.1104T>C (p.Asp368=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benignFDA Recognized database
Select item 185739	NM_000314.8(PTEN):c.1197A>G (p.Gln399=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome +5 more	GBenign/Likely benign
Select item 189424	NM_000314.8(PTEN):c.*10del	PTEN	Deletion (3 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significanceFDA Recognized database

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Items: 27