"Baylor Genetics"[submitter] AND "TBCEL-TECTA"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034177	NM_005422.4(TECTA):c.761T>C (p.Ile254Thr)	TBCEL-TECTA, TECTA (I573T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GUncertain significance
Select item 2441747	NM_005422.4(TECTA):c.1316T>C (p.Phe439Ser)	TBCEL-TECTA, TECTA (F439S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GUncertain significance
Select item 1032996	NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu)	TBCEL-TECTA, TECTA (R491L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GUncertain significance
Select item 288521	NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)	LOC126861365, TBCEL-TECTA +1 more (T815M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GConflicting classifications of pathogenicity
Select item 1034175	NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys)	LOC126861365, TBCEL-TECTA +1 more (E950K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GUncertain significance
Select item 1028888	NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu)	TBCEL-TECTA, TECTA (F1498L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 45333	NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)	TBCEL-TECTA, TECTA (V1545I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2441893	NM_005422.4(TECTA):c.5515G>A (p.Gly1839Ser)	TBCEL-TECTA, TECTA (G1839S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance