"Ambry Genetics"[submitter] AND "TECR"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376921	NM_138501.6(TECR):c.262G>T (p.Val88Leu)	TECR (V88L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2570229	NM_138501.6(TECR):c.497C>T (p.Thr166Ile)	TECR (T181I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402204	NM_138501.6(TECR):c.566A>G (p.Tyr189Cys)	TECR (Y204C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249686	NM_138501.6(TECR):c.571G>A (p.Ala191Thr)	TECR (A206T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340786	NM_138501.6(TECR):c.680A>G (p.Lys227Arg)	TECR (K242R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1759092	NM_138501.6(TECR):c.747C>A (p.Thr249=)	TECR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2245049	NM_138501.6(TECR):c.791G>C (p.Cys264Ser)	TECR (C264S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1764160	NM_138501.6(TECR):c.864C>T (p.Ser288=)	TECR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2260047	NM_138501.6(TECR):c.898C>T (p.Arg300Cys)	TECR (R300C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance