ClinVar for MedGen (Select 412876) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075666	NM_000363.5(TNNI3):c.23C>G (p.Ala8Gly)	TNNI3 (A8G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1FF	GUncertain significance
Select item 1175200	NM_000363.5(TNNI3):c.536A>G (p.Glu179Gly)	TNNI3 (E179G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1FF	GLikely pathogenic
Select item 1171378	NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)	TNNI3 (R74C)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 945741	NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)	TNNI3 (K207R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 893021	NM_000363.5(TNNI3):c.-45C>T	TNNI3	Single nucleotide variant (5 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +4 more	GUncertain significance
Select item 694066	NM_001730.5(KLF5):c.1100T>A (p.Leu367Ter)	KLF5 (L276* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1FF	GPathogenic
Select item 629524	NM_000363.5(TNNI3):c.92C>T (p.Thr31Met)	TNNI3 (T31M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 454401	NM_000363.5(TNNI3):c.104C>T (p.Ala35Val)	TNNI3 (A35V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 419596	NM_000363.5(TNNI3):c.114dup (p.Ser39fs)	TNNI3 (S39fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 7 +6 more	GUncertain significance
Select item 391132	NM_000363.5(TNNI3):c.373-16C>T	TNNI3	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 378932	NM_000363.5(TNNI3):c.108+2T>G	TNNI3	Single nucleotide variant (splice donor variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 264048	NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro)	TNNI3 (R74P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 237688	NM_000363.5(TNNI3):c.108+4G>T	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 7 +3 more	GUncertain significance
Select item 188674	NM_000363.5(TNNI3):c.439G>C (p.Val147Leu)	TNNI3 (V147L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 2A +5 more	GUncertain significance
Select item 181579	NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)	TNNI3 (T119I)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1 +6 more	GUncertain significance
Select item 181575	NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter)	TNNI3 (R98*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 179548	NM_000363.5(TNNI3):c.132G>C (p.Ser44=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GLikely benign
Select item 165526	NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr)	TNNI3 (I56T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 165517	NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)	TNNI3 (R170G)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1 +4 more	GConflicting classifications of pathogenicity
Select item 165510	NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)	TNNI3 (R192C)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1 +6 more	GPathogenic/Likely pathogenic
Select item 161396	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3 (R162W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 137684	NM_000363.5(TNNI3):c.109-17C>A	TNNI3	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 43392	NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)	TNNI3 (E182K)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 43389	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	TNNI3 (R162Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GPathogenic/Likely pathogenic
Select item 43384	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	TNNI3 (R145Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 43381	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	TNNI3 (R141Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 43375	NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)	TNNI3 (T119N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 12431	NM_000363.5(TNNI3):c.555C>G (p.Asn185Lys)	TNNI3 (N185K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1FF	GPathogenic
Select item 12430	NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln)	TNNI3 (K36Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1FF	GPathogenic
Select item 12422	NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	TNNI3 (D196N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 12421	NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)	TNNI3 (P82S)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +12 more	GBenign/Likely benign

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Links from MedGen

Items: 31