"Eurofins Ntd Llc (ga)"[submitter] AND "TECTA"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179381	NM_005422.4(TECTA):c.327C>T (p.Gly109=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 286513	NM_005422.4(TECTA):c.336T>C (p.Tyr112=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 501371	NM_005422.4(TECTA):c.538C>T (p.Leu180Phe)	TBCEL-TECTA, TECTA (L180F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499510	NM_005422.4(TECTA):c.554A>G (p.Glu185Gly)	TBCEL-TECTA, TECTA (E185G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45341	NM_005422.4(TECTA):c.624+11C>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 178532	NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)	TBCEL-TECTA, TECTA (Q234R +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 594351	NM_005422.4(TECTA):c.730_737del (p.Arg244fs)	TBCEL-TECTA, TECTA (R244fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 597195	NM_005422.4(TECTA):c.811G>C (p.Glu271Gln)	TBCEL-TECTA, TECTA (E271Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289305	NM_005422.4(TECTA):c.972G>C (p.Val324=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 517577	NM_005422.4(TECTA):c.1572C>T (p.Cys524=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 225485	NM_005422.4(TECTA):c.1685C>T (p.Thr562Met)	TBCEL-TECTA, TECTA (T562M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595210	NM_005422.4(TECTA):c.1774+1G>T	TBCEL-TECTA, TECTA	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 165353	NM_005422.4(TECTA):c.1812C>T (p.Ser604=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 45316	NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)	TBCEL-TECTA, TECTA (D612N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 498103	NM_005422.4(TECTA):c.1893C>A (p.Cys631Ter)	TBCEL-TECTA, TECTA (C631* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 498531	NM_005422.4(TECTA):c.2015C>T (p.Thr672Ile)	TBCEL-TECTA, TECTA (T672I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502103	NM_005422.4(TECTA):c.2088C>T (p.Cys696=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 227988	NM_005422.4(TECTA):c.2123A>G (p.Lys708Arg)	TBCEL-TECTA, TECTA (K708R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 45319	NM_005422.4(TECTA):c.2256C>T (p.Ile752=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 592969	NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu)	TBCEL-TECTA, TECTA (P763L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 498288	NM_005422.4(TECTA):c.2408C>T (p.Ser803Leu)	LOC126861365, TBCEL-TECTA +1 more (S803L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 199106	NM_005422.4(TECTA):c.2566G>T (p.Ala856Ser)	LOC126861365, TBCEL-TECTA +1 more (A856S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 227996	NM_005422.4(TECTA):c.2604G>T (p.Thr868=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 45322	NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)	LOC126861365, TBCEL-TECTA +1 more (V932A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 45323	NM_005422.4(TECTA):c.2805T>C (p.Tyr935=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 178538	NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)	TBCEL-TECTA, TECTA (R1033W +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 229298	NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)	TBCEL-TECTA, TECTA (G1106D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 165360	NM_005422.4(TECTA):c.3406G>C (p.Asp1136His)	TBCEL-TECTA, TECTA (D1136H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 596474	NM_005422.4(TECTA):c.3493G>A (p.Val1165Met)	TECTA, TBCEL-TECTA (V1165M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 499154	NM_005422.4(TECTA):c.3544-7C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 287165	NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)	TBCEL-TECTA, TECTA (G1335E +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 288931	NM_005422.4(TECTA):c.4055G>A (p.Cys1352Tyr)	TBCEL-TECTA, TECTA (C1352Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498538	NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)	TBCEL-TECTA, TECTA (W1362* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 595211	NM_005422.4(TECTA):c.4246G>C (p.Gly1416Arg)	TBCEL-TECTA, TECTA (G1416R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227094	NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile)	TBCEL-TECTA, TECTA (L1439I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 500056	NM_005422.4(TECTA):c.4382C>T (p.Pro1461Leu)	TBCEL-TECTA, TECTA (P1461L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 229303	NM_005422.4(TECTA):c.4802A>G (p.Asn1601Ser)	TECTA, TBCEL-TECTA (N1601S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 286508	NM_005422.4(TECTA):c.4879G>A (p.Gly1627Arg)	TBCEL-TECTA, TECTA (G1627R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45335	NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu)	TBCEL-TECTA, TECTA (S1671L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 45336	NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn)	TBCEL-TECTA, TECTA (S1724N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 236058	NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)	TBCEL-TECTA, TECTA (T1866M +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GConflicting classifications of pathogenicity
Select item 498535	NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter)	TBCEL-TECTA, TECTA (Y1942* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 7021	NM_005422.4(TECTA):c.6062G>A (p.Arg2021His)	TBCEL-TECTA, TECTA (R2021H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289711	NM_005422.4(TECTA):c.6402G>T (p.Thr2134=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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Items: 45