TNNI3[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar

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Items: 59

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1815941.	NM_000363.5(TNNI3):c.617A>T (p.Lys206Ile) GRCh37: Chr19:55663218 GRCh38: Chr19:55151850	TNNI3	K206I	not provided	Pathogenic (Apr 3, 2013)	criteria provided, single submitter
Select item 1815932.	NM_000363.5(TNNI3):c.616A>G (p.Lys206Glu) GRCh37: Chr19:55663219 GRCh38: Chr19:55151851	TNNI3	K206E	not provided	Pathogenic (Jun 28, 2013)	criteria provided, single submitter
Select item 124203.	NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln) GRCh37: Chr19:55663219 GRCh38: Chr19:55151851	TNNI3	K206Q	Hypertrophic cardiomyopathy 7	Pathogenic (Aug 1, 1997)	no assertion criteria provided
Select item 1776794.	NM_000363.5(TNNI3):c.611G>A (p.Arg204His) GRCh37: Chr19:55663224 GRCh38: Chr19:55151856	TNNI3	R204H	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124325.	NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser) GRCh37: Chr19:55663228 GRCh38: Chr19:55151860	TNNI3	G203S	Hypertrophic cardiomyopathy 7	Pathogenic (Aug 1, 1997)	no assertion criteria provided
Select item 124226.	NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) GRCh37: Chr19:55663249 GRCh38: Chr19:55151881	TNNI3	D196N	Cardiovascular phenotype, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1816027.	NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys) GRCh37: Chr19:55663253 GRCh38: Chr19:55151885	TNNI3	N194K	not provided	Likely pathogenic (Jun 23, 2017)	criteria provided, single submitter
Select item 1815928.	NM_000363.5(TNNI3):c.581A>G (p.Asn194Ser) GRCh37: Chr19:55663254 GRCh38: Chr19:55151886	TNNI3	N194S	not provided	Likely pathogenic (Dec 5, 2013)	criteria provided, single submitter
Select item 1815919.	NM_000363.5(TNNI3):c.579G>T (p.Lys193Asn) GRCh37: Chr19:55663256 GRCh38: Chr19:55151888	TNNI3	K193N	not provided	Likely pathogenic (Nov 27, 2013)	criteria provided, single submitter
Select item 17953610.	NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro) GRCh37: Chr19:55663260 GRCh38: Chr19:55151892	TNNI3	R192P	Hypertrophic cardiomyopathy	Likely pathogenic (Jul 13, 2016)	criteria provided, single submitter
Select item 17783111.	NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu) GRCh37: Chr19:55663260 GRCh38: Chr19:55151892	TNNI3	R192L	Hypertrophic cardiomyopathy	Likely pathogenic (Feb 13, 2013)	no assertion criteria provided
Select item 1242412.	NM_000363.5(TNNI3):c.575G>A (p.Arg192His) GRCh37: Chr19:55663260 GRCh38: Chr19:55151892	TNNI3	R192H	Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiovascular phenotype, not provided, SUDDEN INFANT DEATH SYNDROME, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16551013.	NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) GRCh37: Chr19:55663261 GRCh38: Chr19:55151893	TNNI3	R192C	not provided, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1242314.	NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) GRCh37: Chr19:55663266 GRCh38: Chr19:55151898	TNNI3	D190G	Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7	Pathogenic (Jan 1, 2003)	no assertion criteria provided
Select item 16551115.	NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr) GRCh37: Chr19:55663267 GRCh38: Chr19:55151899	TNNI3	D190Y	Hypertrophic cardiomyopathy	Likely pathogenic (Jul 11, 2019)	criteria provided, single submitter
Select item 4339516.	NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) GRCh37: Chr19:55663278 GRCh38: Chr19:55151910	TNNI3	R186Q	Cardiovascular phenotype, not provided, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1243117.	NM_000363.5(TNNI3):c.555C>G (p.Asn185Lys) GRCh37: Chr19:55663280 GRCh38: Chr19:55151912	TNNI3	N185K	Dilated cardiomyopathy 1FF	Pathogenic (Aug 14, 2009)	no assertion criteria provided
Select item 18158818.	NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser) GRCh37: Chr19:55663281 GRCh38: Chr19:55151913	TNNI3	N185S	not provided	Likely pathogenic (Jun 25, 2012)	criteria provided, single submitter
Select item 4339419.	NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys) GRCh37: Chr19:55663285 GRCh38: Chr19:55151917	TNNI3	E184K	Primary dilated cardiomyopathy	Likely pathogenic (Sep 6, 2013)	no assertion criteria provided
Select item 140984220.	NM_000363.5(TNNI3):c.549G>T (p.Lys183Asn) GRCh37: Chr19:55665398 GRCh38: Chr19:55154030	TNNI3	K183N	Hypertrophic cardiomyopathy	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 1243321.	NM_000363.5(TNNI3):c.547_549del (p.Lys183del) GRCh37: Chr19:55665398-55665400 GRCh38: Chr19:55154030-55154032	TNNI3	K183del	Hypertrophic cardiomyopathy 7	Pathogenic (Aug 1, 1997)	no assertion criteria provided
Select item 18158722.	NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr) GRCh37: Chr19:55665399 GRCh38: Chr19:55154031	TNNI3	K183T	not provided	Pathogenic (Feb 15, 2014)	criteria provided, single submitter
Select item 18158623.	NM_000363.5(TNNI3):c.547A>G (p.Lys183Glu) GRCh37: Chr19:55665400 GRCh38: Chr19:55154032	TNNI3	K183E	not provided	Pathogenic (Mar 30, 2013)	criteria provided, single submitter
Select item 4339224.	NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) GRCh37: Chr19:55665403 GRCh38: Chr19:55154035	TNNI3	E182K	not provided, Cardiomyopathy, Dilated cardiomyopathy 1FF, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117520025.	NM_000363.5(TNNI3):c.536A>G (p.Glu179Gly) GRCh37: Chr19:55665411 GRCh38: Chr19:55154043	TNNI3	E179G	Dilated cardiomyopathy 1FF	Likely pathogenic (Feb 28, 2020)	criteria provided, single submitter
Select item 1242526.	NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) GRCh37: Chr19:55665415 GRCh38: Chr19:55154047	TNNI3	K178E	Hypertrophic cardiomyopathy 7	Pathogenic (Mar 18, 2020)	criteria provided, single submitter
Select item 208800227.	NM_000363.5(TNNI3):c.524A>C (p.Gln175Pro) GRCh37: Chr19:55665423 GRCh38: Chr19:55154055	TNNI3	Q175P	Hypertrophic cardiomyopathy	Likely pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 23506228.	NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter) GRCh37: Chr19:55665424 GRCh38: Chr19:55154056	TNNI3	Q175*	Cardiovascular phenotype	Pathogenic (Feb 27, 2017)	criteria provided, single submitter
Select item 18055129.	NM_000363.5(TNNI3):c.522G>C (p.Lys174Asn) GRCh37: Chr19:55665425 GRCh38: Chr19:55154057	TNNI3	K174N	Restrictive cardiomyopathy	Pathogenic (May 28, 2014)	no assertion criteria provided
Select item 18158530.	NM_000363.5(TNNI3):c.521A>C (p.Lys174Thr) GRCh37: Chr19:55665426 GRCh38: Chr19:55154058	TNNI3	K174T	not provided	Likely pathogenic (May 24, 2013)	criteria provided, single submitter
Select item 18158431.	NM_000363.5(TNNI3):c.514C>G (p.His172Asp) GRCh37: Chr19:55665433 GRCh38: Chr19:55154065	TNNI3	H172D	not provided	Likely pathogenic (Jan 13, 2012)	criteria provided, single submitter
Select item 199425432.	NM_000363.5(TNNI3):c.509G>C (p.Arg170Pro) GRCh37: Chr19:55665438 GRCh38: Chr19:55154070	TNNI3	R170P	Hypertrophic cardiomyopathy	Pathogenic (Jun 16, 2022)	criteria provided, single submitter
Select item 16551633.	NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) GRCh37: Chr19:55665438 GRCh38: Chr19:55154070	TNNI3	R170Q	Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, not provided, Hypertrophic cardiomyopathy	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17928534.	NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) GRCh37: Chr19:55665439 GRCh38: Chr19:55154071	TNNI3	R170W	Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, not provided	Pathogenic/Likely pathogenic (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17763035.	NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) GRCh37: Chr19:55665450 GRCh38: Chr19:55154082	TNNI3	S166F	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62684436.	NM_000363.5(TNNI3):c.485G>T (p.Arg162Leu) GRCh37: Chr19:55665462 GRCh38: Chr19:55154094	TNNI3	R162L	Cardiomyopathy	Likely pathogenic (Mar 15, 2017)	criteria provided, single submitter
Select item 4339037.	NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) GRCh37: Chr19:55665462 GRCh38: Chr19:55154094	TNNI3	R162P	Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4338938.	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) GRCh37: Chr19:55665462 GRCh38: Chr19:55154094	TNNI3	R162Q	Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not provided, Cardiomyopathy, Dilated cardiomyopathy 1FF, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy ...see more	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16139639.	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) GRCh37: Chr19:55665463 GRCh38: Chr19:55154095	TNNI3	R162W	Cardiovascular phenotype, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Cardiomyopathy, not provided, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4338840.	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) GRCh37: Chr19:55665477 GRCh38: Chr19:55154109	TNNI3	A157V	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4338741.	NM_000363.5(TNNI3):c.464T>C (p.Met155Thr) GRCh37: Chr19:55665483 GRCh38: Chr19:55154115	TNNI3	M155T	Primary dilated cardiomyopathy	Likely pathogenic (Jun 16, 2011)	no assertion criteria provided
Select item 244429542.	NM_000363.5(TNNI3):c.455A>G (p.Asp152Gly) GRCh37: Chr19:55665492 GRCh38: Chr19:55154124	TNNI3	D152G	Hypertrophic cardiomyopathy 7	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 97835943.	NM_000363.5(TNNI3):c.438A>T (p.Arg146Ser) GRCh37: Chr19:55665509 GRCh38: Chr19:55154141	TNNI3	R146S	Hypertrophic cardiomyopathy 1	Likely pathogenic (Nov 20, 2019)	criteria provided, single submitter
Select item 4338444.	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) GRCh37: Chr19:55665513 GRCh38: Chr19:55154145	TNNI3	R145Q	Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1242645.	NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) GRCh37: Chr19:55665514 GRCh38: Chr19:55154146	TNNI3	R145W	not provided, Cardiomyopathy, SUDDEN INFANT DEATH SYNDROME, Hypertrophic cardiomyopathy	Pathogenic (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1241946.	NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) GRCh37: Chr19:55665514 GRCh38: Chr19:55154146	TNNI3	R145G	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4338347.	NM_000363.5(TNNI3):c.431T>C (p.Leu144Pro) GRCh37: Chr19:55665516 GRCh38: Chr19:55154148	TNNI3	L144P	Hypertrophic cardiomyopathy	Likely pathogenic (May 14, 2015)	criteria provided, single submitter
Select item 1242848.	NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln) GRCh37: Chr19:55665516 GRCh38: Chr19:55154148	TNNI3	L144Q	Cardiomyopathy, familial restrictive, 1	Pathogenic (Jan 1, 2003)	no assertion criteria provided
Select item 4338149.	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) GRCh37: Chr19:55665525 GRCh38: Chr19:55154157	TNNI3	R141Q	Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18157650.	NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) GRCh37: Chr19:55665540 GRCh38: Chr19:55154172	TNNI3	R136Q	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57858851.	NM_000363.5(TNNI3):c.404T>C (p.Leu135Pro) GRCh37: Chr19:55665543 GRCh38: Chr19:55154175	TNNI3	L135P	Hypertrophic cardiomyopathy	Likely pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 26582852.	NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr) GRCh37: Chr19:55665568 GRCh38: Chr19:55154200	TNNI3	D127Y	Cardiomyopathy, familial restrictive, 1	Likely pathogenic (May 1, 2016)	no assertion criteria provided
Select item 18159953.	NM_000363.5(TNNI3):c.302A>G (p.His101Arg) GRCh37: Chr19:55666179 GRCh38: Chr19:55154811	TNNI3	H101R	not provided	Likely pathogenic (Feb 10, 2012)	criteria provided, single submitter
Select item 168626354.	NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala) GRCh37: Chr19:55667991 GRCh38: Chr19:55156623	TNNI3	S44A	Cardiomyopathy, familial restrictive, 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 133308055.	NM_000363.5(TNNI3):c.127G>A (p.Ala43Thr) GRCh37: Chr19:55667994 GRCh38: Chr19:55156626	TNNI3	A43T	not provided	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 1243056.	NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln) GRCh37: Chr19:55668420 GRCh38: Chr19:55157052	TNNI3	K36Q	Dilated cardiomyopathy 1FF	Pathogenic (Aug 14, 2009)	no assertion criteria provided
Select item 1243457.	NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) GRCh37: Chr19:55668465 GRCh38: Chr19:55157097	TNNI3	R21C	Cardiovascular phenotype, Hypertrophic cardiomyopathy	Pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4336058.	NM_000363.5(TNNI3):c.12-1G>T GRCh37: Chr19:55668677 GRCh38: Chr19:55157309	TNNI3		Hypertrophic cardiomyopathy	Likely pathogenic (Mar 1, 2008)	no assertion criteria provided
Select item 4336559.	NM_000363.5(TNNI3):c.1A>G (p.Met1Val) GRCh37: Chr19:55668957 GRCh38: Chr19:55157589	TNNI3	M1V	not provided, Hypertrophic cardiomyopathy	Likely pathogenic (Mar 1, 2008)	no assertion criteria provided

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Items: 59