ClinVar for MedGen (Select 412876) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11752001.	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 11713782.	NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys) GRCh37: Chr19:55667631 GRCh38: Chr19:55156263	TNNI3	R74C	Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, Cardiomyopathy, Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy	Uncertain significance (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9457413.	NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg) GRCh37: Chr19:55663215 GRCh38: Chr19:55151847	TNNI3	K207R	Hypertrophic cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8930214.	NM_000363.5(TNNI3):c.-45C>T GRCh37: Chr19:55669002 GRCh38: Chr19:55157634	TNNI3		Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7	Uncertain significance (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6940665.	NM_001730.5(KLF5):c.1100T>A (p.Leu367Ter) GRCh37: Chr13:73636837 GRCh38: Chr13:73062699	KLF5	L276, L367	Dilated cardiomyopathy 1FF	Pathogenic (Oct 1, 2019)	no assertion criteria provided
Select item 6295246.	NM_000363.5(TNNI3):c.92C>T (p.Thr31Met) GRCh37: Chr19:55668434 GRCh38: Chr19:55157066	TNNI3	T31M	Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4544017.	NM_000363.5(TNNI3):c.104C>T (p.Ala35Val) GRCh37: Chr19:55668422 GRCh38: Chr19:55157054	TNNI3	A35V	Cardiomyopathy, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4195968.	NM_000363.5(TNNI3):c.114dup (p.Ser39fs) GRCh37: Chr19:55668006-55668007 GRCh38: Chr19:55156638-55156639	TNNI3	S39fs	Hypertrophic cardiomyopathy, not provided, Cardiomyopathy, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3911329.	NM_000363.5(TNNI3):c.373-16C>T GRCh37: Chr19:55665590 GRCh38: Chr19:55154222	TNNI3		not provided, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37893210.	NM_000363.5(TNNI3):c.108+2T>G GRCh37: Chr19:55668416 GRCh38: Chr19:55157048	TNNI3		not provided, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7	Uncertain significance (Sep 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26404811.	NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro) GRCh37: Chr19:55667630 GRCh38: Chr19:55156262	TNNI3	R74P	not provided, Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18867412.	NM_000363.5(TNNI3):c.439G>C (p.Val147Leu) GRCh37: Chr19:55665508 GRCh38: Chr19:55154140	TNNI3	V147L	Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18157913.	NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile) GRCh37: Chr19:55666125 GRCh38: Chr19:55154757	TNNI3	T119I	Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy, not provided, Cardiovascular phenotype	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18157514.	NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) GRCh37: Chr19:55666189 GRCh38: Chr19:55154821	TNNI3	R98*	Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, not provided, Cardiomyopathy, Cardiovascular phenotype	Uncertain significance (Dec 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17954815.	NM_000363.5(TNNI3):c.132G>C (p.Ser44=) GRCh37: Chr19:55667989 GRCh38: Chr19:55156621	TNNI3		Cardiovascular phenotype, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16552616.	NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr) GRCh37: Chr19:55667684 GRCh38: Chr19:55156316	TNNI3	I56T	Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16551717.	NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) GRCh37: Chr19:55665439 GRCh38: Chr19:55154071	TNNI3	R170G	not specified, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 14, 2021)	criteria provided, conflicting interpretations
Select item 16551018.	NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) GRCh37: Chr19:55663261 GRCh38: Chr19:55151893	TNNI3	R192C	not provided, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16139619.	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) GRCh37: Chr19:55665463 GRCh38: Chr19:55154095	TNNI3	R162W	Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Cardiomyopathy, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13768420.	NM_000363.5(TNNI3):c.109-17C>A GRCh37: Chr19:55668029 GRCh38: Chr19:55156661	TNNI3		not specified, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, not provided, Hypertrophic cardiomyopathy	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4339221.	NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) GRCh37: Chr19:55665403 GRCh38: Chr19:55154035	TNNI3	E182K	not provided, Cardiomyopathy, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4338922.	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, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy ...see more	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4338423.	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) GRCh37: Chr19:55665513 GRCh38: Chr19:55154145	TNNI3	R145Q	Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, 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 4338124.	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) GRCh37: Chr19:55665525 GRCh38: Chr19:55154157	TNNI3	R141Q	Cardiovascular phenotype, Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, 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 4337525.	NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) GRCh37: Chr19:55666125 GRCh38: Chr19:55154757	TNNI3	T119N	Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy ...see more	Uncertain significance (Nov 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1243126.	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 1243027.	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 1242228.	NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) GRCh37: Chr19:55663249 GRCh38: Chr19:55151881	TNNI3	D196N	Cardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Dec 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1242129.	NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) GRCh37: Chr19:55667607 GRCh38: Chr19:55156239	TNNI3	P82S	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Cardiovascular phenotype, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Cardiomyopathy, Amyloidogenic transthyretin amyloidosis, Familial restrictive cardiomyopathy, not providednot specified, Cardiomyopathy, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy, ...see more	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 29