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 192

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24418931.	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 24417472.	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 17102263.	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 17081274.	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 17055755.	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 13450036.	NM_005422.4(TECTA):c.1391A>G (p.Tyr464Cys) GRCh37: Chr11:120996198 GRCh38: Chr11:121125489	TECTA, TBCEL-TECTA	Y783C, Y464C	not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13337057.	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 13296948.	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 13294829.	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 131464810.	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 127447311.	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 118558212.	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 117785313.	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 103417714.	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 103417515.	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 103299616.	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 102888817.	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 102736618.	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 93201519.	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 93052520.	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 93024721.	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 88046422.	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 88038223.	NM_005422.4(TECTA):c.1651G>A (p.Val551Met) GRCh37: Chr11:120996458 GRCh38: Chr11:121125749	TBCEL-TECTA, TECTA	V551M	Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12, not provided	Conflicting interpretations of pathogenicity (Apr 11, 2023)	criteria provided, conflicting interpretations
Select item 88030024.	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 88029925.	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 87982526.	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 87978627.	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 87978528.	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 87973429.	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 87940230.	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 87928331.	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 87922732.	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 87917733.	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 87912734.	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 87912635.	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 87912536.	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 87882337.	NM_005422.4(TECTA):c.5046C>T (p.Ile1682=) GRCh37: Chr11:121032853 GRCh38: Chr11:121162144	TBCEL-TECTA, TECTA		Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 87877238.	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 87872939.	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 87862840.	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 87862741.	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 87853542.	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 87805243.	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 87788944.	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 87788845.	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 87784446.	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 87784347.	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 87777948.	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 87773849.	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 87766250.	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 87756251.	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 87756152.	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 87751453.	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 87204054.	NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) GRCh37: Chr11:121023647 GRCh38: Chr11:121152938	TBCEL-TECTA, TECTA	R1388H	not provided, Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21	Conflicting interpretations of pathogenicity (Aug 28, 2021)	criteria provided, conflicting interpretations
Select item 86946555.	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 86946456.	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 74206957.	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 68960458.	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 68960259.	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 66717160.	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 66716961.	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 66716662.	NM_005422.4(TECTA):c.33C>A (p.Val11=) GRCh37: Chr11:120973407 GRCh38: Chr11:121102698	TBCEL-TECTA, TECTA		Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12, not specified, not provided	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 63165363.	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 54645064.	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 (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50210365.	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 49853866.	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 44427567.	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 42988768.	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 41791969.	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 40352770.	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 30304771.	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 30304672.	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 30304573.	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 30304474.	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 30304375.	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 30304276.	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 30304177.	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 30304078.	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 30303979.	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 30303880.	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 30303781.	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 30303682.	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 30303583.	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 30303484.	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 30303385.	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 30303286.	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 30303187.	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 30303088.	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 30302989.	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 30302890.	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 30302791.	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 30302692.	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 30302593.	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 30302494.	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 30302395.	NM_005422.4(TECTA):c.4205G>C (p.Cys1402Ser) GRCh37: Chr11:121023689 GRCh38: Chr11:121152980	TBCEL-TECTA, TECTA	C1402S, C1721S	Meniere disease, Autosomal dominant nonsyndromic hearing loss 12, not provided, Autosomal recessive nonsyndromic hearing loss 21	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30302296.	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 30302097.	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 30301998.	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 30301899.	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 303017100.	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

<< First< Prev

Page of 2