"GeneDx"[submitter] AND "TNNI3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 31865	NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)	TNNT1, TNNI3 (E12G)	Single nucleotide variant (missense variant)	Nemaline myopathy 5 +6 more	GBenign/Likely benign
Select item 130603	NM_003283.6(TNNT1):c.33-8G>A	TNNI3, TNNT1	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 31855	NM_003283.6(TNNT1):c.-20A>G	TNNI3, TNNT1	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 1256927	NC_000019.10:g.55151563T>G	TNNI3	Single nucleotide variant	not provided	GBenign
Select item 1231873	NC_000019.10:g.55151632C>A	TNNI3	Single nucleotide variant	not provided	GBenign
Select item 1199784	NC_000019.10:g.55151712T>C	TNNI3	Single nucleotide variant	not provided	GLikely benign
Select item 1209416	NC_000019.10:g.55151728G>T	TNNI3	Single nucleotide variant	not provided	GLikely benign
Select item 188677	NM_000363.5(TNNI3):c.*35C>T	TNNI3	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1290283	NM_000363.5(TNNI3):c.*16G>A	TNNI3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 181596	NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)	TNNI3	Single nucleotide variant (stop lost)	not provided +2 more	GUncertain significance
Select item 181595	NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)	TNNI3 (E209A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 177666	NM_000363.5(TNNI3):c.625G>A (p.Glu209Lys)	TNNI3 (E209K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 671765	NM_000363.5(TNNI3):c.618A>G (p.Lys206=)	TNNI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 181594	NM_000363.5(TNNI3):c.617A>T (p.Lys206Ile)	TNNI3 (K206I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 181593	NM_000363.5(TNNI3):c.616A>G (p.Lys206Glu)	TNNI3 (K206E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 520294	NM_000363.5(TNNI3):c.614A>C (p.Lys205Thr)	TNNI3 (K205T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 177679	NM_000363.5(TNNI3):c.611G>A (p.Arg204His)	TNNI3 (R204H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 177631	NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys)	TNNI3 (R204C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137688	NM_000363.5(TNNI3):c.609C>T (p.Gly203=)	TNNI3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 181603	NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)	TNNI3 (S199N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 682159	NM_000363.5(TNNI3):c.594G>C (p.Leu198=)	TNNI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 177694	NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)	TNNI3 (L198V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GLikely pathogenic
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 229333	NM_000363.5(TNNI3):c.583A>C (p.Ile195Leu)	TNNI3 (I195L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 181602	NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys)	TNNI3 (N194K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 181592	NM_000363.5(TNNI3):c.581A>G (p.Asn194Ser)	TNNI3 (N194S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 181591	NM_000363.5(TNNI3):c.579G>T (p.Lys193Asn)	TNNI3 (K193N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 181590	NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)	TNNI3 (K193E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 12424	NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	TNNI3 (R192H)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy +6 more	GPathogenic
Select item 165510	NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)	TNNI3 (R192C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 430246	NM_000363.5(TNNI3):c.570C>G (p.Asp190Glu)	TNNI3 (D190E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 181589	NM_000363.5(TNNI3):c.562G>T (p.Val188Leu)	TNNI3 (V188L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36883	NM_000363.5(TNNI3):c.562G>A (p.Val188Met)	TNNI3 (V188M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 43395	NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)	TNNI3 (R186Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 546467	NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)	TNNI3 (R186W)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +4 more	GConflicting classifications of pathogenicity
Select item 181588	NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser)	TNNI3 (N185S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 181601	NM_000363.5(TNNI3):c.553A>T (p.Asn185Tyr)	TNNI3 (N185Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43393	NM_000363.5(TNNI3):c.550-10C>T	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 922772	NM_000363.5(TNNI3):c.550-14T>C	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 1217767	NM_000363.5(TNNI3):c.550-106_550-105insAGAC	TNNI3	Insertion (intron variant)	not provided	GLikely benign
Select item 1191717	NM_000363.5(TNNI3):c.550-112T>C	TNNI3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675756	NM_000363.5(TNNI3):c.550-157T>A	TNNI3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680810	NM_000363.5(TNNI3):c.550-256_550-255del	TNNI3	Deletion (intron variant)	not provided	GBenign
Select item 681245	NM_000363.5(TNNI3):c.549+267T>A	TNNI3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675346	NM_000363.5(TNNI3):c.549+211A>G	TNNI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675345	NM_000363.5(TNNI3):c.549+128A>C	TNNI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 36882	NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA	TNNI3	Insertion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 181587	NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr)	TNNI3 (K183T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 181586	NM_000363.5(TNNI3):c.547A>G (p.Lys183Glu)	TNNI3 (K183E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 43392	NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)	TNNI3 (E182K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 403557	NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)	TNNI3 (D180G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 43391	NM_000363.5(TNNI3):c.537G>A (p.Glu179=)	DNAAF3, TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 43386	NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del)	TNNI3 (K178del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 842266	NM_000363.5(TNNI3):c.533A>G (p.Lys178Arg)	TNNI3 (K178R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 181585	NM_000363.5(TNNI3):c.521A>C (p.Lys174Thr)	TNNI3 (K174T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 181584	NM_000363.5(TNNI3):c.514C>G (p.His172Asp)	TNNI3 (H172D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 165516	NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)	TNNI3 (R170Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 179285	NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)	TNNI3 (R170W)	Single nucleotide variant (missense variant)	Restrictive cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 1307189	NM_000363.5(TNNI3):c.506T>C (p.Leu169Pro)	TNNI3 (L169P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427197	NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn)	TNNI3 (D168N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 177630	NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	TNNI3 (S166F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 383149	NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter)	TNNI3 (E165*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1707272	NM_000363.5(TNNI3):c.490A>G (p.Lys164Glu)	TNNI3 (K164E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 177866	NM_000363.5(TNNI3):c.488C>T (p.Ala163Val)	TNNI3 (A163V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 43389	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	TNNI3 (R162Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 161396	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3 (R162W)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 381300	NM_000363.5(TNNI3):c.474G>C (p.Leu158=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 188675	NM_000363.5(TNNI3):c.471G>A (p.Ala157=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 43388	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	TNNI3 (A157V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 181583	NM_000363.5(TNNI3):c.463A>G (p.Met155Val)	TNNI3 (M155V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 181582	NM_000363.5(TNNI3):c.458C>A (p.Ala153Asp)	TNNI3 (A153D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 181581	NM_000363.5(TNNI3):c.451G>A (p.Ala151Thr)	TNNI3 (A151T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 43384	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	TNNI3 (R145Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GPathogenic/Likely pathogenic
Select item 12426	NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	TNNI3 (R145W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 12419	NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)	TNNI3 (R145G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 378739	NM_000363.5(TNNI3):c.432G>T (p.Leu144=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 43382	NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)	TNNI3 (T143N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 43381	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	TNNI3 (R141Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 2A +7 more	GPathogenic/Likely pathogenic
Select item 181580	NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)	TNNI3 (R141W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 181576	NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	TNNI3 (R136Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 488853	NM_000363.5(TNNI3):c.406C>T (p.Arg136Ter)	TNNI3 (R136*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 43379	NM_000363.5(TNNI3):c.384G>A (p.Leu128=)	TNNI3	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43378	NM_000363.5(TNNI3):c.373-4C>G	TNNI3	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 36881	NM_000363.5(TNNI3):c.373-10=	DNAAF3, TNNI3 +1 more	Single nucleotide variant (intron variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 511911	NM_000363.5(TNNI3):c.373-15C>T	TNNI3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 43377	NM_000363.5(TNNI3):c.373-15C>G	TNNI3	Single nucleotide variant (intron variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
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 1217414	NM_000363.5(TNNI3):c.373-43G>A	TNNI3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228284	NM_000363.5(TNNI3):c.373-115G>C	TNNI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211835	NM_000363.5(TNNI3):c.372+200C>G	TNNI3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384111	NM_000363.5(TNNI3):c.372+20C>T	TNNI3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 165520	NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln)	TNNI3 (E124Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 513975	NM_000363.5(TNNI3):c.363C>T (p.Asn121=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 181579	NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)	TNNI3 (T119I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 43375	NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)	TNNI3 (T119N)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +11 more	GUncertain significance
Select item 1464755	NM_000363.5(TNNI3):c.341T>C (p.Ile114Thr)	TNNI3 (I114T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 181578	NM_000363.5(TNNI3):c.340A>G (p.Ile114Val)	TNNI3 (I114V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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