"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TLE6"[g - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735987	NM_001143986.2(TLE6):c.358T>C (p.Phe120Leu)	TLE6 (F120L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2160860	NM_001143986.2(TLE6):c.665dup (p.Ser223fs)	TLE6 (S223fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 782164	NM_001143986.2(TLE6):c.699C>T (p.Val233=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064539	NM_001143986.2(TLE6):c.741-1G>C	TLE6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 799882	NM_001143986.2(TLE6):c.795C>T (p.Pro265=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768952	NM_001143986.2(TLE6):c.855C>T (p.His285=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734208	NM_001143986.2(TLE6):c.861G>A (p.Glu287=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784384	NM_001143986.2(TLE6):c.1176C>T (p.Asn392=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782318	NM_001143986.2(TLE6):c.1287C>T (p.Val429=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777363	NM_001143986.2(TLE6):c.1470C>T (p.Ser490=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782319	NM_001143986.2(TLE6):c.1537+7G>A	TLE6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741067	NM_001143986.2(TLE6):c.1615-6C>T	TLE6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 739581	NM_001143986.2(TLE6):c.1620T>G (p.Pro540=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779369	NM_001143986.2(TLE6):c.1692C>T (p.His564=)	TLE6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423880	NC_000019.9:g.(?_2901044)_(3121449_?)del	GNA11, TLE2 +3 more	Deletion	not provided	GPathogenic
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance

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Items: 20