ClinVar for MedGen (Select 355030) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24999961.	NM_005422.4(TECTA):c.1779C>T (p.Ser593=) GRCh37: Chr11:120998465 GRCh38: Chr11:121127756	TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Apr 27, 2023)	criteria provided, single submitter
Select item 17995382.	NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter) GRCh37: Chr11:121000437 GRCh38: Chr11:121129728	LOC126861365, TBCEL-TECTA, TECTA	K1139, K820	Autosomal recessive nonsyndromic hearing loss 21	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17122783.	NM_005422.4(TECTA):c.286G>C (p.Val96Leu) GRCh37: Chr11:120980007 GRCh38: Chr11:121109298	TBCEL-TECTA, TECTA	V415L, V96L	Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 17055464.	NM_005422.4(TECTA):c.5741C>G (p.Pro1914Arg) GRCh37: Chr11:121038917 GRCh38: Chr11:121168208	TECTA, TBCEL-TECTA	P1914R, P2228R	Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 17042025.	NM_005422.4(TECTA):c.2101G>A (p.Gly701Ser) GRCh37: Chr11:120998787 GRCh38: Chr11:121128078	TECTA, TBCEL-TECTA	G1020S, G701S	Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 17041576.	NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter) GRCh37: Chr11:120996563 GRCh38: Chr11:121125854	TBCEL-TECTA, TECTA	R586, R905	not provided, Autosomal recessive nonsyndromic hearing loss 21	Pathogenic/Likely pathogenic (Aug 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17029487.	NM_005422.4(TECTA):c.36T>G (p.Ser12=) GRCh37: Chr11:120973410 GRCh38: Chr11:121102701	TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 16874458.	NM_005422.4(TECTA):c.6103G>T (p.Glu2035Ter) GRCh37: Chr11:121058644 GRCh38: Chr11:121187935	TBCEL-TECTA, TECTA	E2035, E2349	Autosomal recessive nonsyndromic hearing loss 21	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 13450039.	NM_005422.4(TECTA):c.1391A>G (p.Tyr464Cys) GRCh37: Chr11:120996198 GRCh38: Chr11:121125489	TBCEL-TECTA, TECTA	Y783C, Y464C	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, not provided	Uncertain significance (Jun 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133411810.	NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter) GRCh37: Chr11:120996512 GRCh38: Chr11:121125803	TBCEL-TECTA, TECTA	Q569, Q888	Autosomal recessive nonsyndromic hearing loss 21	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 133350911.	NM_005422.4(TECTA):c.2409G>A (p.Ser803=) GRCh37: Chr11:121000388 GRCh38: Chr11:121129679	TECTA, LOC126861365, TBCEL-TECTA		Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 132969412.	NM_005422.4(TECTA):c.102del (p.Asn34fs) GRCh37: Chr11:120976577 GRCh38: Chr11:121105868	TBCEL-TECTA, TECTA	N34fs, N353fs	not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Pathogenic/Likely pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131464813.	NM_005422.4(TECTA):c.4180C>A (p.Leu1394Met) GRCh37: Chr11:121023664 GRCh38: Chr11:121152955	TECTA, TBCEL-TECTA	L1394M, L1713M	not provided	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 127447314.	NM_005422.4(TECTA):c.5586+40C>G GRCh37: Chr11:121037529 GRCh38: Chr11:121166820	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117785315.	NM_005422.4(TECTA):c.5272+26A>G GRCh37: Chr11:121033105 GRCh38: Chr11:121162396	TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21, not provided, Autosomal dominant nonsyndromic hearing loss 12	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88046416.	NM_005422.4(TECTA):c.3126G>A (p.Gly1042=) GRCh37: Chr11:121008314 GRCh38: Chr11:121137605	TBCEL-TECTA, TECTA		not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Apr 23, 2022)	criteria provided, conflicting interpretations
Select item 88038217.	NM_005422.4(TECTA):c.1651G>A (p.Val551Met) GRCh37: Chr11:120996458 GRCh38: Chr11:121125749	TBCEL-TECTA, TECTA	V551M	not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Apr 11, 2023)	criteria provided, conflicting interpretations
Select item 88030018.	NM_005422.4(TECTA):c.420T>C (p.Ser140=) GRCh37: Chr11:120980141 GRCh38: Chr11:121109432	TECTA, TBCEL-TECTA		not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Jun 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88029919.	NM_005422.4(TECTA):c.377C>T (p.Thr126Ile) GRCh37: Chr11:120980098 GRCh38: Chr11:121109389	TBCEL-TECTA, TECTA	T126I	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87982520.	NM_005422.4(TECTA):c.5877G>C (p.Leu1959=) GRCh37: Chr11:121039512 GRCh38: Chr11:121168803	TBCEL-TECTA, TECTA		not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Feb 24, 2020)	criteria provided, conflicting interpretations
Select item 87978621.	NM_005422.4(TECTA):c.5260A>G (p.Lys1754Glu) GRCh37: Chr11:121033067 GRCh38: Chr11:121162358	TBCEL-TECTA, TECTA	K1754E	Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87978522.	NM_005422.4(TECTA):c.5205C>T (p.Ala1735=) GRCh37: Chr11:121033012 GRCh38: Chr11:121162303	TBCEL-TECTA, TECTA		not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Feb 11, 2022)	criteria provided, conflicting interpretations
Select item 87973423.	NM_005422.4(TECTA):c.4594G>A (p.Asp1532Asn) GRCh37: Chr11:121028838 GRCh38: Chr11:121158129	TBCEL-TECTA, TECTA	D1532N	not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Feb 5, 2022)	criteria provided, conflicting interpretations
Select item 87940224.	NM_005422.4(TECTA):c.5142C>T (p.Tyr1714=) GRCh37: Chr11:121032949 GRCh38: Chr11:121162240	TBCEL-TECTA, TECTA		not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Dec 10, 2019)	criteria provided, conflicting interpretations
Select item 87928325.	NM_005422.4(TECTA):c.2889C>A (p.Ala963=) GRCh37: Chr11:121000868 GRCh38: Chr11:121130159	LOC126861365, TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87922726.	NM_005422.4(TECTA):c.2327A>T (p.Gln776Leu) GRCh37: Chr11:120999013 GRCh38: Chr11:121128304	TBCEL-TECTA, TECTA	Q776L	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87917727.	NM_005422.4(TECTA):c.1498G>A (p.Asp500Asn) GRCh37: Chr11:120996305 GRCh38: Chr11:121125596	TBCEL-TECTA, TECTA	D500N	Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87912728.	NM_005422.4(TECTA):c.880T>C (p.Cys294Arg) GRCh37: Chr11:120989104 GRCh38: Chr11:121118395	TBCEL-TECTA, TECTA	C294R	not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87912629.	NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) GRCh37: Chr11:120989074 GRCh38: Chr11:121118365	TBCEL-TECTA, TECTA	R284C	not specified, Autosomal dominant nonsyndromic hearing loss 12, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87912530.	NM_005422.4(TECTA):c.805C>G (p.Arg269Gly) GRCh37: Chr11:120989029 GRCh38: Chr11:121118320	TBCEL-TECTA, TECTA	R269G	Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 87882331.	NM_005422.4(TECTA):c.5046C>T (p.Ile1682=) GRCh37: Chr11:121032853 GRCh38: Chr11:121162144	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, not provided	Conflicting interpretations of pathogenicity (Jul 4, 2023)	criteria provided, conflicting interpretations
Select item 87877232.	NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg) GRCh37: Chr11:121023779 GRCh38: Chr11:121153070	TBCEL-TECTA, TECTA	K1432R	Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (May 5, 2021)	criteria provided, conflicting interpretations
Select item 87872933.	NM_005422.4(TECTA):c.3575A>C (p.Lys1192Thr) GRCh37: Chr11:121016295 GRCh38: Chr11:121145586	TBCEL-TECTA, TECTA	K1192T	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87862834.	NM_005422.4(TECTA):c.2222A>G (p.Lys741Arg) GRCh37: Chr11:120998908 GRCh38: Chr11:121128199	TBCEL-TECTA, TECTA	K741R	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87862735.	NM_005422.4(TECTA):c.2175C>T (p.Asp725=) GRCh37: Chr11:120998861 GRCh38: Chr11:121128152	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87853536.	NM_005422.4(TECTA):c.714C>T (p.Asn238=) GRCh37: Chr11:120984351 GRCh38: Chr11:121113642	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Feb 12, 2020)	criteria provided, multiple submitters, no conflicts
Select item 87805237.	NM_005422.4(TECTA):c.6150C>T (p.Tyr2050=) GRCh37: Chr11:121058691 GRCh38: Chr11:121187982	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87788938.	NM_005422.4(TECTA):c.6069C>T (p.His2023=) GRCh37: Chr11:121058610 GRCh38: Chr11:121187901	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 87788839.	NM_005422.4(TECTA):c.5878T>C (p.Tyr1960His) GRCh37: Chr11:121039513 GRCh38: Chr11:121168804	TBCEL-TECTA, TECTA	Y1960H	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87784440.	NM_005422.4(TECTA):c.5577C>T (p.Asn1859=) GRCh37: Chr11:121037480 GRCh38: Chr11:121166771	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87784341.	NM_005422.4(TECTA):c.5362G>A (p.Glu1788Lys) GRCh37: Chr11:121036071 GRCh38: Chr11:121165362	TBCEL-TECTA, TECTA	E1788K	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87777942.	NM_005422.4(TECTA):c.4901T>C (p.Val1634Ala) GRCh37: Chr11:121031055 GRCh38: Chr11:121160346	TBCEL-TECTA, TECTA	V1634A	not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Mar 8, 2019)	criteria provided, multiple submitters, no conflicts
Select item 87773843.	NM_005422.4(TECTA):c.4168G>A (p.Ala1390Thr) GRCh37: Chr11:121023652 GRCh38: Chr11:121152943	TECTA, TBCEL-TECTA	A1390T	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87766244.	NM_005422.4(TECTA):c.2674C>A (p.Leu892Met) GRCh37: Chr11:121000653 GRCh38: Chr11:121129944	TBCEL-TECTA, TECTA, LOC126861365	L892M	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, Inborn genetic diseases, not provided	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87756245.	NM_005422.4(TECTA):c.1143C>G (p.Leu381=) GRCh37: Chr11:120989367 GRCh38: Chr11:121118658	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87756146.	NM_005422.4(TECTA):c.1089G>T (p.Val363=) GRCh37: Chr11:120989313 GRCh38: Chr11:121118604	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87751447.	NM_005422.4(TECTA):c.552C>T (p.Tyr184=) GRCh37: Chr11:120983846 GRCh38: Chr11:121113137	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, not specified, not provided	Conflicting interpretations of pathogenicity (May 26, 2021)	criteria provided, conflicting interpretations
Select item 87204048.	NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) GRCh37: Chr11:121023647 GRCh38: Chr11:121152938	TBCEL-TECTA, TECTA	R1388H	not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Aug 28, 2021)	criteria provided, conflicting interpretations
Select item 81688149.	NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu) GRCh37: Chr11:121000879 GRCh38: Chr11:121130170	LOC126861365, TBCEL-TECTA, TECTA	A967E	Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Apr 19, 2018)	criteria provided, single submitter
Select item 81383150.	NM_005422.4(TECTA):c.248C>T (p.Thr83Met) GRCh37: Chr11:120979969 GRCh38: Chr11:121109260	TBCEL-TECTA, TECTA	T83M	not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Jan 3, 2022)	criteria provided, conflicting interpretations
Select item 74206951.	NM_005422.4(TECTA):c.4317A>C (p.Leu1439=) GRCh37: Chr11:121028561 GRCh38: Chr11:121157852	TBCEL-TECTA, TECTA		not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Jun 4, 2022)	criteria provided, conflicting interpretations
Select item 66717152.	NM_005422.4(TECTA):c.90A>T (p.Pro30=) GRCh37: Chr11:120976565 GRCh38: Chr11:121105856	TBCEL-TECTA, TECTA		not specified, Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Mar 20, 2022)	criteria provided, conflicting interpretations
Select item 66716953.	NM_005422.4(TECTA):c.2700G>A (p.Ser900=) GRCh37: Chr11:121000679 GRCh38: Chr11:121129970	LOC126861365, TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, not specified, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 66716654.	NM_005422.4(TECTA):c.33C>A (p.Val11=) GRCh37: Chr11:120973407 GRCh38: Chr11:121102698	TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21, not provided, not specified, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 62748055.	NM_005422.4(TECTA):c.5866C>T (p.Arg1956Ter) GRCh37: Chr11:121039501 GRCh38: Chr11:121168792	TBCEL-TECTA, TECTA	R1956, R2270	Autosomal recessive nonsyndromic hearing loss 21	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 61917356.	NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs) GRCh37: Chr11:120996052-120996053 GRCh38: Chr11:121125343-121125344	TBCEL-TECTA, TECTA	G416fs, G735fs	Autosomal recessive nonsyndromic hearing loss 21, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Jul 1, 2018)	no assertion criteria provided
Select item 56208957.	NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) GRCh37: Chr11:121000715 GRCh38: Chr11:121130006	LOC126861365, TBCEL-TECTA, TECTA	C912, C1231	Autosomal recessive nonsyndromic hearing loss 21, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 56208858.	NM_005422.4(TECTA):c.6162+5G>A GRCh37: Chr11:121058708 GRCh38: Chr11:121187999	TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 56208759.	NM_005422.4(TECTA):c.840_841insT (p.Val281fs) GRCh37: Chr11:120989064-120989065 GRCh38: Chr11:121118355-121118356	TBCEL-TECTA, TECTA	V281fs, V600fs	Autosomal recessive nonsyndromic hearing loss 21, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 50210360.	NM_005422.4(TECTA):c.2088C>T (p.Cys696=) GRCh37: Chr11:120998774 GRCh38: Chr11:121128065	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Aug 12, 2021)	criteria provided, conflicting interpretations
Select item 49853861.	NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) GRCh37: Chr11:121016805 GRCh38: Chr11:121146096	TBCEL-TECTA, TECTA	W1362, W1681	Nonsyndromic genetic hearing loss	Pathogenic (Jan 21, 2020)	reviewed by expert panel FDA Recognized Database
Select item 44427562.	NM_005422.4(TECTA):c.6100G>A (p.Asp2034Asn) GRCh37: Chr11:121058641 GRCh38: Chr11:121187932	TBCEL-TECTA, TECTA	D2034N, D2348N	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, not provided	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42988763.	NM_005422.4(TECTA):c.4061C>T (p.Thr1354Ile) GRCh37: Chr11:121016781 GRCh38: Chr11:121146072	TBCEL-TECTA, TECTA	T1354I, T1673I	Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12, not provided	Conflicting interpretations of pathogenicity (May 5, 2022)	criteria provided, conflicting interpretations
Select item 41791964.	NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser) GRCh37: Chr11:121016574 GRCh38: Chr11:121145865	TBCEL-TECTA, TECTA	C1285S, C1604S	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Nov 13, 2015)	no assertion criteria provided
Select item 40352765.	NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) GRCh37: Chr11:121016463 GRCh38: Chr11:121145754	TBCEL-TECTA, TECTA	P1248L, P1567L	not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12, Hearing impairment, not specified	Conflicting interpretations of pathogenicity (Oct 16, 2023)	criteria provided, conflicting interpretations
Select item 40227966.	NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter) GRCh37: Chr11:121031011 GRCh38: Chr11:121160302	TBCEL-TECTA, TECTA	C1619, C1938	Autosomal recessive nonsyndromic hearing loss 21	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 30304767.	NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) GRCh37: Chr11:121061505 GRCh38: Chr11:121190796	TBCEL-TECTA, TECTA	T2153M, T2467M	not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, not specified	Conflicting interpretations of pathogenicity (Mar 13, 2022)	criteria provided, conflicting interpretations
Select item 30304668.	NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) GRCh37: Chr11:121061475 GRCh38: Chr11:121190766	TBCEL-TECTA, TECTA	S2143L, S2457L	not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, not specified	Conflicting interpretations of pathogenicity (May 7, 2022)	criteria provided, conflicting interpretations
Select item 30304569.	NM_005422.4(TECTA):c.6301C>T (p.Arg2101Trp) GRCh37: Chr11:121060523 GRCh38: Chr11:121189814	TBCEL-TECTA, TECTA	R2101W, R2415W	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30304470.	NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn) GRCh37: Chr11:121058677 GRCh38: Chr11:121187968	TBCEL-TECTA, TECTA	D2046N, D2360N	not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30304371.	NM_005422.4(TECTA):c.6135C>T (p.Cys2045=) GRCh37: Chr11:121058676 GRCh38: Chr11:121187967	TBCEL-TECTA, TECTA		not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Jun 7, 2021)	criteria provided, conflicting interpretations
Select item 30304272.	NM_005422.4(TECTA):c.5913A>T (p.Thr1971=) GRCh37: Chr11:121039548 GRCh38: Chr11:121168839	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30304173.	NM_005422.4(TECTA):c.5908G>A (p.Ala1970Thr) GRCh37: Chr11:121039543 GRCh38: Chr11:121168834	TBCEL-TECTA, TECTA	A1970T, A2284T	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 30304074.	NM_005422.4(TECTA):c.5829A>G (p.Lys1943=) GRCh37: Chr11:121039464 GRCh38: Chr11:121168755	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30303975.	NM_005422.4(TECTA):c.5770C>A (p.Pro1924Thr) GRCh37: Chr11:121039405 GRCh38: Chr11:121168696	TBCEL-TECTA, TECTA	P1924T, P2238T	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30303876.	NM_005422.4(TECTA):c.5743A>C (p.Met1915Leu) GRCh37: Chr11:121038919 GRCh38: Chr11:121168210	TBCEL-TECTA, TECTA	M1915L, M2229L	not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30303777.	NM_005422.4(TECTA):c.5587-15C>G GRCh37: Chr11:121038748 GRCh38: Chr11:121168039	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30303678.	NM_005422.4(TECTA):c.5586+12A>G GRCh37: Chr11:121037501 GRCh38: Chr11:121166792	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30303579.	NM_005422.4(TECTA):c.5583G>T (p.Val1861=) GRCh37: Chr11:121037486 GRCh38: Chr11:121166777	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30303480.	NM_005422.4(TECTA):c.5550C>G (p.Ile1850Met) GRCh37: Chr11:121037453 GRCh38: Chr11:121166744	TBCEL-TECTA, TECTA	I1850M, I2164M	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30303381.	NM_005422.4(TECTA):c.5496C>G (p.Ile1832Met) GRCh37: Chr11:121037399 GRCh38: Chr11:121166690	TBCEL-TECTA, TECTA	I1832M, I2146M	Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30303282.	NM_005422.4(TECTA):c.5114A>G (p.Tyr1705Cys) GRCh37: Chr11:121032921 GRCh38: Chr11:121162212	TBCEL-TECTA, TECTA	Y1705C, Y2019C	Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30303183.	NM_005422.4(TECTA):c.5091G>A (p.Met1697Ile) GRCh37: Chr11:121032898 GRCh38: Chr11:121162189	TBCEL-TECTA, TECTA	M1697I, M2011I	Inborn genetic diseases, not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30303084.	NM_005422.4(TECTA):c.4977-12C>T GRCh37: Chr11:121032772 GRCh38: Chr11:121162063	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30302985.	NM_005422.4(TECTA):c.4965C>T (p.Gly1655=) GRCh37: Chr11:121031119 GRCh38: Chr11:121160410	TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30302886.	NM_005422.4(TECTA):c.4842G>C (p.Leu1614=) GRCh37: Chr11:121030996 GRCh38: Chr11:121160287	TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30302787.	NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val) GRCh37: Chr11:121030874 GRCh38: Chr11:121160165	TBCEL-TECTA, TECTA	I1574V, I1893V	Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 12, not provided, not specified, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 30302688.	NM_005422.4(TECTA):c.4441A>G (p.Ser1481Gly) GRCh37: Chr11:121028685 GRCh38: Chr11:121157976	TBCEL-TECTA, TECTA	S1481G, S1800G	Autosomal dominant nonsyndromic hearing loss 12, not specified, not provided, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30302589.	NM_005422.4(TECTA):c.4337C>G (p.Thr1446Arg) GRCh37: Chr11:121028581 GRCh38: Chr11:121157872	TBCEL-TECTA, TECTA	T1446R, T1765R	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30302490.	NM_005422.4(TECTA):c.4289A>G (p.Asp1430Gly) GRCh37: Chr11:121023773 GRCh38: Chr11:121153064	TBCEL-TECTA, TECTA	D1430G, D1749G	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30302391.	NM_005422.4(TECTA):c.4205G>C (p.Cys1402Ser) GRCh37: Chr11:121023689 GRCh38: Chr11:121152980	TBCEL-TECTA, TECTA	C1402S, C1721S	Meniere disease, not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30302292.	NM_005422.4(TECTA):c.4061C>G (p.Thr1354Ser) GRCh37: Chr11:121016781 GRCh38: Chr11:121146072	TBCEL-TECTA, TECTA	T1354S, T1673S	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30302093.	NM_005422.4(TECTA):c.3760A>G (p.Met1254Val) GRCh37: Chr11:121016480 GRCh38: Chr11:121145771	TBCEL-TECTA, TECTA	M1254V, M1573V	Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30301994.	NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) GRCh37: Chr11:121016470 GRCh38: Chr11:121145761	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, not specified, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (May 14, 2022)	criteria provided, conflicting interpretations
Select item 30301895.	NM_005422.4(TECTA):c.3728G>A (p.Arg1243His) GRCh37: Chr11:121016448 GRCh38: Chr11:121145739	TBCEL-TECTA, TECTA	R1243H, R1562H	Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (May 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30301796.	NM_005422.4(TECTA):c.3558G>T (p.Arg1186=) GRCh37: Chr11:121016278 GRCh38: Chr11:121145569	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30301697.	NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) GRCh37: Chr11:121016276 GRCh38: Chr11:121145567	TBCEL-TECTA, TECTA	R1186W, R1505W	Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 30301598.	NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) GRCh37: Chr11:121008699 GRCh38: Chr11:121137990	TBCEL-TECTA, TECTA	V1171M, V1490M	Autosomal dominant nonsyndromic hearing loss 12, not specified, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (May 17, 2022)	criteria provided, conflicting interpretations
Select item 30301499.	NM_005422.4(TECTA):c.3216C>T (p.Cys1072=) GRCh37: Chr11:121008404 GRCh38: Chr11:121137695	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 303013100.	NM_005422.4(TECTA):c.3138C>T (p.Ala1046=) GRCh37: Chr11:121008326 GRCh38: Chr11:121137617	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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