"PreventionGenetics, part of Exact Sciences"[submitter] AND "TECTA"[ge - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227093	NM_005422.4(TECTA):c.-1-12T>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 2631677	NM_005422.4(TECTA):c.25del (p.Ile9fs)	TBCEL-TECTA, TECTA (I328fs +1 more)	Deletion (frameshift variant)	TECTA-related disorder	GLikely pathogenic
Select item 667166	NM_005422.4(TECTA):c.33C>A (p.Val11=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21 +4 more	GConflicting classifications of pathogenicity
Select item 45339	NM_005422.4(TECTA):c.56A>G (p.Gln19Arg)	TBCEL-TECTA, TECTA (Q19R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GBenign/Likely benign
Select item 929982	NM_005422.4(TECTA):c.199-4G>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3051930	NM_005422.4(TECTA):c.199-3T>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	TECTA-related disorder	GLikely benign
Select item 3044928	NM_005422.4(TECTA):c.249G>A (p.Thr83=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	TECTA-related disorder	GLikely benign
Select item 179381	NM_005422.4(TECTA):c.327C>T (p.Gly109=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 229304	NM_005422.4(TECTA):c.487-7C>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 45341	NM_005422.4(TECTA):c.624+11C>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified +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 3030742	NM_005422.4(TECTA):c.790+7del	TBCEL-TECTA, TECTA	Deletion (intron variant)	TECTA-related disorder	GLikely benign
Select item 178637	NM_005422.4(TECTA):c.790+12C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 178533	NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile)	TBCEL-TECTA, TECTA (S362I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +4 more	GConflicting classifications of pathogenicity
Select item 45314	NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly)	TBCEL-TECTA, TECTA (R371G +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 3044922	NM_005422.4(TECTA):c.1204-10T>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	TECTA-related disorder	GLikely benign
Select item 178638	NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu)	TBCEL-TECTA, TECTA (P479L +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 45315	NM_005422.4(TECTA):c.1485A>G (p.Ala495=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 303000	NM_005422.4(TECTA):c.1509C>T (p.Cys503=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 666933	NM_005422.4(TECTA):c.1522A>C (p.Thr508Pro)	TBCEL-TECTA, TECTA (T508P +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder +2 more	GUncertain significance
Select item 229291	NM_005422.4(TECTA):c.1621G>A (p.Val541Met)	TBCEL-TECTA, TECTA (V541M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 880382	NM_005422.4(TECTA):c.1651G>A (p.Val551Met)	TBCEL-TECTA, TECTA (V551M)	Single nucleotide variant (missense variant)	TECTA-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3061152	NM_005422.4(TECTA):c.1948T>A (p.Cys650Ser)	TBCEL-TECTA, TECTA (C650S +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	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 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 178536	NM_005422.4(TECTA):c.2299C>A (p.Arg767=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1489594	NM_005422.4(TECTA):c.2398T>G (p.Phe800Val)	LOC126861365, TBCEL-TECTA +1 more (F800V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2630495	NM_005422.4(TECTA):c.2522A>G (p.Tyr841Cys)	LOC126861365, TBCEL-TECTA +1 more (Y1160C +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 452349	NM_005422.4(TECTA):c.2544G>A (p.Leu848=)	TECTA, LOC126861365 +1 more	Single nucleotide variant (synonymous variant)	not provided +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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 165357	NM_005422.4(TECTA):c.2739C>T (p.Gly913=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2630828	NM_005422.4(TECTA):c.2750A>G (p.Asp917Gly)	LOC126861365, TBCEL-TECTA +1 more (D1236G +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 45322	NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)	LOC126861365, 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 667170	NM_005422.4(TECTA):c.2886C>T (p.Ser962=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	TECTA-related disorder +2 more	GBenign/Likely benign
Select item 1208824	NM_005422.4(TECTA):c.3064G>A (p.Gly1022Ser)	TBCEL-TECTA, TECTA (G1022S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 2632789	NM_005422.4(TECTA):c.3221C>G (p.Thr1074Ser)	TBCEL-TECTA, TECTA (T1074S +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 45326	NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile)	TBCEL-TECTA, TECTA (V1102I +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder +2 more	GBenign/Likely benign
Select item 178539	NM_005422.4(TECTA):c.3492C>T (p.Thr1164=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 3058033	NM_005422.4(TECTA):c.3569C>A (p.Pro1190His)	TBCEL-TECTA, TECTA (P1190H +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 2629859	NM_005422.4(TECTA):c.3842G>T (p.Cys1281Phe)	TBCEL-TECTA, TECTA (C1281F +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GLikely pathogenic
Select item 3033099	NM_005422.4(TECTA):c.3945C>T (p.His1315=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	TECTA-related disorder	GLikely benign
Select item 45329	NM_005422.4(TECTA):c.4098G>A (p.Thr1366=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 45330	NM_005422.4(TECTA):c.4105+13C>T	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 3051824	NM_005422.4(TECTA):c.4274G>A (p.Cys1425Tyr)	TBCEL-TECTA, TECTA (C1425Y +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2632752	NM_005422.4(TECTA):c.4375T>C (p.Cys1459Arg)	TBCEL-TECTA, TECTA (C1459R +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 45331	NM_005422.4(TECTA):c.4422C>T (p.Asn1474=)	TECTA, TBCEL-TECTA	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 2631377	NM_005422.4(TECTA):c.4497C>A (p.Asp1499Glu)	TBCEL-TECTA, TECTA (D1499E +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 2419317	NM_005422.4(TECTA):c.4690-4A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	TECTA-related disorder +1 more	GUncertain significance
Select item 303027	NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val)	TBCEL-TECTA, TECTA (I1574V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +5 more	GConflicting classifications of pathogenicity
Select item 738087	NM_005422.4(TECTA):c.4812C>T (p.Asn1604=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 228000	NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile)	TBCEL-TECTA, TECTA (V1605I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +4 more	GConflicting classifications of pathogenicity
Select item 1206887	NM_005422.4(TECTA):c.4824C>T (p.Ile1608=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided +1 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 879402	NM_005422.4(TECTA):c.5142C>T (p.Tyr1714=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	TECTA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 178541	NM_005422.4(TECTA):c.5160C>T (p.Asp1720=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 1538216	NM_005422.4(TECTA):c.5211C>T (p.Tyr1737=)	TECTA, TBCEL-TECTA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2633245	NM_005422.4(TECTA):c.5243G>A (p.Ser1748Asn)	TBCEL-TECTA, TECTA (S1748N +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder	GUncertain significance
Select item 2630099	NM_005422.4(TECTA):c.5383+1G>A	TBCEL-TECTA, TECTA	Single nucleotide variant (splice donor variant)	TECTA-related disorder	GLikely pathogenic
Select item 259764	NM_005422.4(TECTA):c.5384-19G>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3030904	NM_005422.4(TECTA):c.5583G>A (p.Val1861=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	TECTA-related disorder	GLikely benign
Select item 1303345	NM_005422.4(TECTA):c.5591A>G (p.Asn1864Ser)	TBCEL-TECTA, TECTA (N1864S +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder +1 more	GUncertain significance
Select item 45338	NM_005422.4(TECTA):c.5634C>T (p.Ser1878=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 165370	NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)	TECTA, TBCEL-TECTA (Y1946H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 2384049	NM_005422.4(TECTA):c.6205G>C (p.Glu2069Gln)	TBCEL-TECTA, TECTA (E2069Q +1 more)	Single nucleotide variant (missense variant)	TECTA-related disorder +1 more	GUncertain significance

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Items: 68