TNNT2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar

Search results

Items: 66

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1816361.	NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) GRCh37: Chr1:201328344 GRCh38: Chr1:201359216	TNNT2	W287, W294, W284, W281, W254, W297	Hypertrophic cardiomyopathy, not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1776362.	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) GRCh37: Chr1:201328345 GRCh38: Chr1:201359217	TNNT2	W287, W294, W281, W284, W254, W297	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1816493.	NM_001276345.2(TNNT2):c.851+1G>C GRCh37: Chr1:201328750 GRCh38: Chr1:201359622	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Pathogenic/Likely pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 1655334.	NM_001276345.2(TNNT2):c.851+1G>T GRCh37: Chr1:201328750 GRCh38: Chr1:201359622	TNNT2		Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 436735.	NM_001276345.2(TNNT2):c.851+1G>A GRCh37: Chr1:201328750 GRCh38: Chr1:201359622	TNNT2		Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4319376.	NM_001276345.2(TNNT2):c.847A>G (p.Lys283Glu) GRCh37: Chr1:201328755 GRCh38: Chr1:201359627	TNNT2	K273E, K280E, K283E, K240E, K267E, K270E	not provided	Pathogenic (Sep 28, 2017)	criteria provided, single submitter
Select item 1816397.	NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) GRCh37: Chr1:201328757-201328758 GRCh38: Chr1:201359629-201359630	TNNT2	Q282fs, Q266fs, Q269fs, Q272fs, Q279fs, Q239fs	Cardiomyopathy	Pathogenic (Sep 11, 2013)	criteria provided, single submitter
Select item 1778558.	NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) GRCh37: Chr1:201328765 GRCh38: Chr1:201359637	TNNT2	N269K, N276K, N236K, N263K, N266K, N279K	Cardiovascular phenotype	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 1816289.	NM_001276345.2(TNNT2):c.767A>G (p.Glu256Gly) GRCh37: Chr1:201330450 GRCh38: Chr1:201361322	TNNT2	E246G, E253G, E240G, E243G, E256G, E213G	not provided	Likely pathogenic (Mar 8, 2012)	criteria provided, single submitter
Select item 56247710.	NM_001276345.2(TNNT2):c.719+2T>A GRCh37: Chr1:201331039 GRCh38: Chr1:201361911	TNNT2		not provided	Likely pathogenic (Sep 16, 2018)	no assertion criteria provided
Select item 21749611.	NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr) GRCh37: Chr1:201331098 GRCh38: Chr1:201361970	TNNT2	I211T, I218T, I178T, I205T, I208T, I221T	Hypertrophic cardiomyopathy 2	Likely pathogenic	criteria provided, single submitter
Select item 4365912.	NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) GRCh37: Chr1:201331099-201331101 GRCh38: Chr1:201361971-201361973	TNNT2	K210del, K217del, K177del, K204del, K207del, K220del	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1241613.	NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu) GRCh37: Chr1:201331116 GRCh38: Chr1:201361988	TNNT2	R205L, R212L, R202L, R172L, R199L, R215L	Dilated cardiomyopathy 1D	Pathogenic (Nov 16, 2004)	no assertion criteria provided
Select item 147874414.	NM_001276345.2(TNNT2):c.638C>G (p.Thr213Ser) GRCh37: Chr1:201331122 GRCh38: Chr1:201361994	TNNT2	T203S, T170S, T200S, T210S, T213S, T197S	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 203972315.	NM_001276345.2(TNNT2):c.617G>T (p.Arg206Leu) GRCh37: Chr1:201331143 GRCh38: Chr1:201362015	TNNT2	R190L, R163L, R191L, R195L, R206L, R193L, R196L, R203L	Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 42699716.	NM_001276345.2(TNNT2):c.610-1G>A GRCh37: Chr1:201331151 GRCh38: Chr1:201362023	TNNT2		not provided	Likely pathogenic (Mar 4, 2020)	criteria provided, single submitter
Select item 244439717.	NM_001276345.2(TNNT2):c.609+2T>A GRCh37: Chr1:201331512 GRCh38: Chr1:201362384	TNNT2		Hypertrophic cardiomyopathy 2	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 63661018.	NM_001276345.2(TNNT2):c.609+1del GRCh37: Chr1:201331513 GRCh38: Chr1:201362385	TNNT2		not provided	Likely pathogenic (Apr 13, 2018)	criteria provided, single submitter
Select item 17763419.	NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) GRCh37: Chr1:201332458 GRCh38: Chr1:201363330	TNNT2	S179F, S189F, S149F, S174F	Cardiovascular phenotype, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46952620.	NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala) GRCh37: Chr1:201332459 GRCh38: Chr1:201363331	TNNT2	S179A, S189A, S149A, S174A	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 69196721.	NM_001276345.2(TNNT2):c.548G>T (p.Arg183Leu) GRCh37: Chr1:201332476 GRCh38: Chr1:201363348	TNNT2	R143L, R168L, R173L, R183L	Dilated cardiomyopathy 1D	Pathogenic (Jul 18, 2019)	criteria provided, single submitter
Select item 4364922.	NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) GRCh37: Chr1:201332476 GRCh38: Chr1:201363348	TNNT2	R173Q, R183Q, R143Q, R168Q	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Primary dilated cardiomyopathy	Pathogenic/Likely pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22840923.	NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) GRCh37: Chr1:201332477 GRCh38: Chr1:201363349	TNNT2	R173W, R183W, R143W, R168W	Cardiovascular phenotype, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Primary dilated cardiomyopathy, not provided	Pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18162224.	NM_001276345.2(TNNT2):c.526A>G (p.Arg176Gly) GRCh37: Chr1:201332498 GRCh38: Chr1:201363370	TNNT2	R166G, R176G, R136G, R161G	not provided	Likely pathogenic (Feb 28, 2014)	criteria provided, single submitter
Select item 4364825.	NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) GRCh37: Chr1:201332505-201332507 GRCh38: Chr1:201363377-201363379	TNNT2	E163del, E173del, E133del, E158del	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131925926.	NM_001276345.2(TNNT2):c.499G>C (p.Ala167Pro) GRCh37: Chr1:201332525 GRCh38: Chr1:201363397	TNNT2	A127P, A152P, A157P, A167P	Hypertrophic cardiomyopathy 2	Likely pathogenic (Nov 3, 2021)	criteria provided, single submitter
Select item 1241427.	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) GRCh37: Chr1:201333464 GRCh38: Chr1:201364336	TNNT2	R141W, R151W, R111W, R136W	Familial isolated dilated cardiomyopathy, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, not provided, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy, Dilated cardiomyopathy 1D	Pathogenic (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 211545628.	NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly) GRCh37: Chr1:201333470 GRCh38: Chr1:201364342	TNNT2	R134G, R149G, R138G, R109G, R139G	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 43039029.	NM_001276345.2(TNNT2):c.445C>A (p.Arg149Ser) GRCh37: Chr1:201333470 GRCh38: Chr1:201364342	TNNT2	R139S, R149S, R109S, R134S	not provided	Likely pathogenic (Sep 17, 2015)	criteria provided, single submitter
Select item 4363930.	NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) GRCh37: Chr1:201333485 GRCh38: Chr1:201364357	TNNT2	R134G, R144G, R129G, R104G	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Primary dilated cardiomyopathy	Pathogenic/Likely pathogenic (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4363831.	NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) GRCh37: Chr1:201333493 GRCh38: Chr1:201364365	TNNT2	R131P, R141P, R126P, R101P	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Primary dilated cardiomyopathy	Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4363732.	NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) GRCh37: Chr1:201333493 GRCh38: Chr1:201364365	TNNT2	R131Q, R141Q, R101Q, R126Q	not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Primary dilated cardiomyopathy	Pathogenic (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38914533.	NM_001276345.2(TNNT2):c.421C>G (p.Arg141Gly) GRCh37: Chr1:201333494 GRCh38: Chr1:201364366	TNNT2	R131G, R141G, R101G, R126G	not provided	Likely pathogenic (Sep 7, 2016)	criteria provided, single submitter
Select item 1241534.	NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) GRCh37: Chr1:201333494 GRCh38: Chr1:201364366	TNNT2	R131W, R141W, R126W, R101W	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Primary dilated cardiomyopathy	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4363635.	NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) GRCh37: Chr1:201333497 GRCh38: Chr1:201364369	TNNT2	R130C, R140C, R125C, R100C	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Cardiomyopathy, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68483136.	NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln) GRCh37: Chr1:201334345 GRCh38: Chr1:201365217	TNNT2	E114Q, E119Q, E129Q	Primary familial dilated cardiomyopathy	Likely pathogenic	criteria provided, single submitter
Select item 4363437.	NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) GRCh37: Chr1:201334348 GRCh38: Chr1:201365220	TNNT2	E118K, E128K, E113K	Primary dilated cardiomyopathy	Likely pathogenic (Jan 14, 2013)	criteria provided, single submitter
Select item 17780738.	NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) GRCh37: Chr1:201334370 GRCh38: Chr1:201365242	TNNT2	F110L, F120L, F105L	Hypertrophic cardiomyopathy, Wolff-Parkinson-White pattern, not provided, Primary familial hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Nov 27, 2018)	criteria provided, multiple submitters, no conflicts
Select item 23506439.	NM_001276345.2(TNNT2):c.358T>C (p.Phe120Leu) GRCh37: Chr1:201334372 GRCh38: Chr1:201365244	TNNT2	F110L, F120L, F105L	not provided	Likely pathogenic (Feb 21, 2014)	no assertion criteria provided
Select item 1241240.	NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) GRCh37: Chr1:201334372 GRCh38: Chr1:201365244	TNNT2	F110I, F120I, F105I	Cardiomyopathy, Dilated cardiomyopathy 1D	Pathogenic (Mar 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22933641.	NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr) GRCh37: Chr1:201334375-201334376 GRCh38: Chr1:201365247-201365248	TNNT2	H104Y, H109Y, H119Y	Primary dilated cardiomyopathy	Likely pathogenic (Nov 16, 2017)	criteria provided, single submitter
Select item 18161542.	NM_001276345.2(TNNT2):c.349G>T (p.Glu117Ter) GRCh37: Chr1:201334381 GRCh38: Chr1:201365253	TNNT2	E107, E117, E102*	not provided	Pathogenic (Mar 8, 2012)	criteria provided, single submitter
Select item 68485043.	NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del) GRCh37: Chr1:201334397-201334402 GRCh38: Chr1:201365269-201365274	TNNT2		Primary familial hypertrophic cardiomyopathy	Pathogenic	criteria provided, single submitter
Select item 210078944.	NM_001276345.2(TNNT2):c.321G>C (p.Lys107Asn) GRCh37: Chr1:201334409 GRCh38: Chr1:201365281	TNNT2	K96N, K97N, K107N, K92N	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 4363145.	NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) GRCh37: Chr1:201334409 GRCh38: Chr1:201365281	TNNT2	K107N, K97N, K92N	not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17768346.	NM_001276345.2(TNNT2):c.316_318del (p.Glu106del) GRCh37: Chr1:201334412-201334414 GRCh38: Chr1:201365284-201365286	TNNT2	E106del, E96del, E91del	Hypertrophic cardiomyopathy	Likely pathogenic (Mar 1, 2008)	no assertion criteria provided
Select item 4362947.	NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) GRCh37: Chr1:201334419 GRCh38: Chr1:201365291	TNNT2	R104L, R94L, R89L	Cardiovascular phenotype, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4362848.	NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) GRCh37: Chr1:201334419 GRCh38: Chr1:201365291	TNNT2	R104H, R94H, R89H	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy	Pathogenic (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16554949.	NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) GRCh37: Chr1:201334420 GRCh38: Chr1:201365292	TNNT2	R104C, R94C, R89C	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Restrictive cardiomyopathy, Primary familial hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18164250.	NM_001276345.2(TNNT2):c.307A>C (p.Lys103Gln) GRCh37: Chr1:201334423 GRCh38: Chr1:201365295	TNNT2	K103Q, K93Q, K88Q	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 31, 2018)	criteria provided, single submitter
Select item 23506351.	NM_001276345.2(TNNT2):c.305G>T (p.Arg102Leu) GRCh37: Chr1:201334425 GRCh38: Chr1:201365297	TNNT2	R102L, R92L, R87L	not provided	Pathogenic (Jan 18, 2012)	no assertion criteria provided
Select item 1240952.	NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) GRCh37: Chr1:201334425 GRCh38: Chr1:201365297	TNNT2	R92Q, R102Q, R87Q	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4362753.	NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) GRCh37: Chr1:201334426 GRCh38: Chr1:201365298	TNNT2	R102W, R92W, R87W	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy	Pathogenic (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169933954.	NM_001276345.2(TNNT2):c.299T>A (p.Ile100Asn) GRCh37: Chr1:201334431 GRCh38: Chr1:201365303	TNNT2	I100N, I85N, I90N	Hypertrophic cardiomyopathy 2	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 171037555.	NM_001276345.2(TNNT2):c.295-1G>C GRCh37: Chr1:201334436 GRCh38: Chr1:201365308	TNNT2		TNNT2-related disorder	Likely pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 66693956.	NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu) GRCh37: Chr1:201334738 GRCh38: Chr1:201365610	TNNT2	D97E, D98E, D83E, D88E	Primary dilated cardiomyopathy	Likely pathogenic (May 14, 2019)	criteria provided, single submitter
Select item 4362557.	NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu) GRCh37: Chr1:201334738 GRCh38: Chr1:201365610	TNNT2	D88E, D98E, D97E, D83E	Primary dilated cardiomyopathy	Likely pathogenic (Jun 4, 2015)	criteria provided, single submitter
Select item 220292158.	NM_001276345.2(TNNT2):c.290T>A (p.Phe97Tyr) GRCh37: Chr1:201334742 GRCh38: Chr1:201365614	TNNT2	F86Y, F96Y, F87Y, F82Y, F97Y	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 220292059.	NM_001276345.2(TNNT2):c.290T>G (p.Phe97Cys) GRCh37: Chr1:201334742 GRCh38: Chr1:201365614	TNNT2	F87C, F96C, F97C, F82C, F86C	Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 4362660.	NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) GRCh37: Chr1:201334745 GRCh38: Chr1:201365617	TNNT2	D86A, D96A, D81A, D95A	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143575461.	NM_001276345.2(TNNT2):c.283G>A (p.Val95Met) GRCh37: Chr1:201334749 GRCh38: Chr1:201365621	TNNT2	V94M, V85M, V80M, V95M	Cardiomyopathy, familial restrictive, 3, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 17764462.	NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg) GRCh37: Chr1:201334758 GRCh38: Chr1:201365630	TNNT2	G82R, G92R, G77R, G91R	not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Mar 30, 2016)	criteria provided, multiple submitters, no conflicts
Select item 18164163.	NM_001276345.2(TNNT2):c.269C>T (p.Pro90Leu) GRCh37: Chr1:201334763 GRCh38: Chr1:201365635	TNNT2	P80L, P90L, P75L, P89L	not provided	Pathogenic (Oct 14, 2014)	criteria provided, single submitter
Select item 1240864.	NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) GRCh37: Chr1:201334766 GRCh38: Chr1:201365638	TNNT2	I79N, I89N, I74N, I88N	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2, Cardiomyopathy, familial restrictive, 3, Cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170192265.	NM_001276345.2(TNNT2):c.68-2A>G GRCh37: Chr1:201338975 GRCh38: Chr1:201369847	TNNT2		Dilated cardiomyopathy 1D	Likely pathogenic (Feb 1, 2013)	criteria provided, single submitter
Select item 1241866.	TNNT2, 3-BP DEL, 285GGA	TNNT2		Cardiomyopathy, familial restrictive, 3	Pathogenic (Jan 25, 2008)	no assertion criteria provided

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Items: 66