ClinVar for MedGen (Select 321902) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 193

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25810391.	NM_005422.4(TECTA):c.140C>G (p.Ser47Cys) GRCh37: Chr11:120976615 GRCh38: Chr11:121105906	TBCEL-TECTA, TECTA	S366C, S47C	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 24418932.	NM_005422.4(TECTA):c.5515G>A (p.Gly1839Ser) GRCh37: Chr11:121037418 GRCh38: Chr11:121166709	TBCEL-TECTA, TECTA	G1839S, G2153S	Autosomal dominant nonsyndromic hearing loss 12, not provided	Uncertain significance (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24417473.	NM_005422.4(TECTA):c.1316T>C (p.Phe439Ser) GRCh37: Chr11:120996123 GRCh38: Chr11:121125414	TECTA, TBCEL-TECTA	F439S, F758S	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 17102264.	NM_005422.4(TECTA):c.3156G>T (p.Trp1052Cys) GRCh37: Chr11:121008344 GRCh38: Chr11:121137635	TBCEL-TECTA, TECTA	W1052C, W1371C	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Mar 1, 2022)	no assertion criteria provided
Select item 17081275.	NM_005422.4(TECTA):c.1115dup (p.Ser373fs) GRCh37: Chr11:120989337-120989338 GRCh38: Chr11:121118628-121118629	TBCEL-TECTA, TECTA	S373fs, S692fs	Autosomal dominant nonsyndromic hearing loss 12	Pathogenic (Nov 12, 2021)	criteria provided, single submitter
Select item 17055756.	NM_005422.4(TECTA):c.493A>T (p.Thr165Ser) GRCh37: Chr11:120983787 GRCh38: Chr11:121113078	TBCEL-TECTA, TECTA	T165S, T484S	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 13450037.	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 13337058.	NM_005422.4(TECTA):c.2012G>A (p.Cys671Tyr) GRCh37: Chr11:120998698 GRCh38: Chr11:121127989	TBCEL-TECTA, TECTA	C671Y, C990Y	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 13296949.	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 132948210.	NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe) GRCh37: Chr11:120996497 GRCh38: Chr11:121125788	TBCEL-TECTA, TECTA	L564F, L883F	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 131464811.	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 127447312.	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 118558213.	NM_005422.4(TECTA):c.5383+5_5383+8del GRCh37: Chr11:121036092-121036095 GRCh38: Chr11:121165383-121165386	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, Bilateral sensorineural hearing impairment, not provided	Pathogenic (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117785314.	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 103417715.	NM_005422.4(TECTA):c.761T>C (p.Ile254Thr) GRCh37: Chr11:120984398 GRCh38: Chr11:121113689	TBCEL-TECTA, TECTA	I573T, I254T	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Sep 12, 2018)	criteria provided, single submitter
Select item 103417516.	NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys) GRCh37: Chr11:121000827 GRCh38: Chr11:121130118	LOC126861365, TBCEL-TECTA, TECTA	E950K, E1269K	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Jun 25, 2018)	criteria provided, single submitter
Select item 103299617.	NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu) GRCh37: Chr11:120996279 GRCh38: Chr11:121125570	TBCEL-TECTA, TECTA	R491L, R810L	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Apr 10, 2018)	criteria provided, single submitter
Select item 102888818.	NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu) GRCh37: Chr11:121028738 GRCh38: Chr11:121158029	TBCEL-TECTA, TECTA	F1498L, F1817L	Autosomal dominant nonsyndromic hearing loss 12, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102736619.	NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr) GRCh37: Chr11:121037413 GRCh38: Chr11:121166704	TBCEL-TECTA, TECTA	C1837Y, C2151Y	Autosomal dominant nonsyndromic hearing loss 12	Likely pathogenic (Mar 26, 2020)	criteria provided, single submitter
Select item 93201520.	NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg) GRCh37: Chr11:121031086 GRCh38: Chr11:121160377	TBCEL-TECTA, TECTA	S1963R, S1644R	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Mar 24, 2019)	criteria provided, single submitter
Select item 93052521.	NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys) GRCh37: Chr11:121058602 GRCh38: Chr11:121187893	TECTA, TBCEL-TECTA	R2021C, R2335C	not provided, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 93024722.	NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys) GRCh37: Chr11:121000623 GRCh38: Chr11:121129914	LOC126861365, TBCEL-TECTA, TECTA	E882K, E1201K	not provided, Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88046423.	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 88038224.	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 88030025.	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 88029926.	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 87982527.	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 87978628.	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 87978529.	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 87973430.	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 87940231.	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 87928332.	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 87922733.	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 87917734.	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 87912735.	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 87912636.	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 87912537.	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 87882338.	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 87877239.	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 87872940.	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 87862841.	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 87862742.	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 87853543.	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 87805244.	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 87788945.	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 87788846.	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 87784447.	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 87784348.	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 87777949.	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 87773850.	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 87766251.	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 87756252.	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 87756153.	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 87751454.	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 87204055.	NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) GRCh37: Chr11:121023647 GRCh38: Chr11:121152938	TBCEL-TECTA, TECTA	R1388H	Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Aug 28, 2021)	criteria provided, conflicting interpretations
Select item 86946556.	NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro) GRCh37: Chr11:121037442 GRCh38: Chr11:121166733	TBCEL-TECTA, TECTA	S1847P	Autosomal dominant nonsyndromic hearing loss 12	Likely pathogenic (Dec 28, 2017)	criteria provided, single submitter
Select item 86946457.	NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr) GRCh37: Chr11:120998482 GRCh38: Chr11:121127773	TBCEL-TECTA, TECTA	S599T	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Dec 28, 2017)	criteria provided, single submitter
Select item 74206958.	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 68960459.	NM_005422.4(TECTA):c.29G>C (p.Trp10Ser) GRCh37: Chr11:120973403 GRCh38: Chr11:121102694	TBCEL-TECTA, TECTA	W10S, W329S	Autosomal dominant nonsyndromic hearing loss 12	Likely benign	criteria provided, single submitter
Select item 68960260.	NM_005422.4(TECTA):c.5488G>A (p.Val1830Met) GRCh37: Chr11:121037391 GRCh38: Chr11:121166682	TBCEL-TECTA, TECTA	V1830M, V2144M	Autosomal dominant nonsyndromic hearing loss 12, not provided	Conflicting interpretations of pathogenicity (Aug 3, 2021)	criteria provided, conflicting interpretations
Select item 66717161.	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 66716962.	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 66716663.	NM_005422.4(TECTA):c.33C>A (p.Val11=) GRCh37: Chr11:120973407 GRCh38: Chr11:121102698	TBCEL-TECTA, TECTA		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 63165364.	NM_005422.4(TECTA):c.4402G>T (p.Glu1468Ter) GRCh37: Chr11:121028646 GRCh38: Chr11:121157937	TBCEL-TECTA, TECTA	E1468, E1787	Autosomal dominant nonsyndromic hearing loss 12	Uncertain significance (Nov 14, 2018)	criteria provided, single submitter
Select item 54645065.	NM_005422.4(TECTA):c.458C>T (p.Thr153Met) GRCh37: Chr11:120980179 GRCh38: Chr11:121109470	TBCEL-TECTA, TECTA	T153M, T472M	not specified, not provided	Uncertain significance (Jun 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50210366.	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 49853867.	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 44427568.	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 42988769.	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 41791970.	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 40352771.	NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) GRCh37: Chr11:121016463 GRCh38: Chr11:121145754	TBCEL-TECTA, TECTA	P1248L, P1567L	Autosomal recessive nonsyndromic hearing loss 21, not specified, Hearing impairment, not provided, Autosomal dominant nonsyndromic hearing loss 12	Conflicting interpretations of pathogenicity (Feb 6, 2023)	criteria provided, conflicting interpretations
Select item 30304772.	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 30304673.	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 30304574.	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 30304475.	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 30304376.	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 30304277.	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 30304178.	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 30304079.	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 30303980.	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 30303881.	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 30303782.	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 30303683.	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 30303584.	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 30303485.	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 30303386.	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 30303287.	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 30303188.	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 30303089.	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 30302990.	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 30302891.	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 30302792.	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 30302693.	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 30302594.	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 30302495.	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 30302396.	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 30302297.	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 30302098.	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 30301999.	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 303018100.	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

<< First< Prev

Page of 2