"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TBCEL-TECT - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 667166	NM_005422.4(TECTA):c.33C>A (p.Val11=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 546450	NM_005422.4(TECTA):c.458C>T (p.Thr153Met)	TBCEL-TECTA, TECTA (T153M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1711330	NM_005422.4(TECTA):c.746T>C (p.Val249Ala)	TBCEL-TECTA, TECTA (V249A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694651	NM_005422.4(TECTA):c.837C>T (p.Cys279=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570813	NM_005422.4(TECTA):c.874A>T (p.Ile292Phe)	TBCEL-TECTA, TECTA (I292F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417737	NM_005422.4(TECTA):c.1503C>T (p.Ser501=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880382	NM_005422.4(TECTA):c.1651G>A (p.Val551Met)	TBCEL-TECTA, TECTA (V551M)	Single nucleotide variant (missense variant)	TECTA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1419207	NM_005422.4(TECTA):c.1757G>A (p.Arg586Gln)	TBCEL-TECTA, TECTA (R586Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45317	NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)	TBCEL-TECTA, TECTA (N687K +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 872039	NM_005422.4(TECTA):c.2137T>C (p.Cys713Arg)	TBCEL-TECTA, TECTA (C713R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227990	NM_005422.4(TECTA):c.2184C>T (p.Ser728=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 916397	NM_005422.4(TECTA):c.2272A>C (p.Lys758Gln)	TBCEL-TECTA, TECTA (K758Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374550	NM_005422.4(TECTA):c.2359del (p.Glu787fs)	TBCEL-TECTA, TECTA (E787fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 227994	NM_005422.4(TECTA):c.2418G>A (p.Leu806=)	TECTA, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 229296	NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)	LOC126861365, TBCEL-TECTA +1 more (N886S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 3026450	NM_005422.4(TECTA):c.2695G>A (p.Asp899Asn)	LOC126861365, TBCEL-TECTA +1 more (D1218N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178636	NM_005422.4(TECTA):c.2781T>C (p.His927=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 806752	NM_005422.4(TECTA):c.2793C>T (p.Asn931=)	TBCEL-TECTA, TECTA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444274	NM_005422.4(TECTA):c.3128A>C (p.His1043Pro)	TECTA, TBCEL-TECTA (H1043P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642468	NM_005422.4(TECTA):c.3250A>G (p.Met1084Val)	TBCEL-TECTA, TECTA (M1084V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3027353	NM_005422.4(TECTA):c.4116C>T (p.Cys1372=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 872040	NM_005422.4(TECTA):c.4163G>A (p.Arg1388His)	TBCEL-TECTA, TECTA (R1388H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +2 more	GConflicting classifications of pathogenicity
Select item 227094	NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile)	TBCEL-TECTA, TECTA (L1439I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +4 more	GConflicting classifications of pathogenicity
Select item 1012594	NM_005422.4(TECTA):c.4430G>A (p.Arg1477His)	TBCEL-TECTA, TECTA (R1477H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 806753	NM_005422.4(TECTA):c.4446C>G (p.Thr1482=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 45333	NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)	TECTA, TBCEL-TECTA (V1545I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45335	NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu)	TBCEL-TECTA, TECTA (S1671L +1 more)	Single nucleotide variant (missense variant)	TECTA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 236058	NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)	TBCEL-TECTA, TECTA (T1866M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +5 more	GConflicting classifications of pathogenicity
Select item 449555	NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys)	TBCEL-TECTA, TECTA (R1947C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 165371	NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met)	TECTA, TBCEL-TECTA (T1954M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1335089	NM_005422.4(TECTA):c.5986A>G (p.Ile1996Val)	TBCEL-TECTA, TECTA (I1996V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444275	NM_005422.4(TECTA):c.6100G>A (p.Asp2034Asn)	TBCEL-TECTA, TECTA (D2034N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 424996	NM_005422.4(TECTA):c.6152C>G (p.Ser2051Cys)	TBCEL-TECTA, TECTA (S2051C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916398	NM_005422.4(TECTA):c.6162+1G>A	TECTA, TBCEL-TECTA	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1176925	NM_005422.4(TECTA):c.6248A>G (p.Lys2083Arg)	TBCEL-TECTA, TECTA (K2083R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504680	NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met)	TBCEL-TECTA, TECTA (T2134M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806754	NM_005422.4(TECTA):c.6402G>A (p.Thr2134=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 37