"Ambry Genetics"[submitter] AND "TNNT2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1106650	NM_001276345.2(TNNT2):c.897G>A (p.Ter299=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 1764222	NM_001276345.2(TNNT2):c.895T>C (p.Ter299Gln)	TNNT2	Single nucleotide variant (stop lost)	Cardiovascular phenotype	GUncertain significance
Select item 177636	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2 (W287* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 43677	NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	TNNT2 (R286H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 577168	NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser)	TNNT2 (R293S +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 43676	NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)	TNNT2 (R286C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 180555	NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg)	TNNT2 (G285R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 388233	NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)	TNNT2	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 1763600	NM_001276345.2(TNNT2):c.879C>T (p.Val293=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 629597	NM_001276345.2(TNNT2):c.864C>T (p.Arg288=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +4 more	GLikely benign
Select item 43674	NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)	TNNT2 (R278H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 537266	NM_001276345.2(TNNT2):c.861C>A (p.Thr287=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 419277	NM_001276345.2(TNNT2):c.852-2A>C	TNNT2	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 43673	NM_001276345.2(TNNT2):c.851+1G>A	TNNT2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 1175037	NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter)	TNNT2 (Q239* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 217495	NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)	TNNT2 (N268I +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 12417	NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)	TNNT2 (D270N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 177855	NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys)	TNNT2 (N269K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 43672	NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)	TNNT2	Single nucleotide variant (synonymous variant)	TNNT2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 181647	NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp)	TNNT2 (N269D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 667022	NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter)	TNNT2 (R262* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1D +4 more	GConflicting classifications of pathogenicity
Select item 450191	NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys)	TNNT2 (Y259C +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 43670	NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)	TNNT2 (K258I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 43669	NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)	TNNT2 (K253R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GBenign/Likely benign
Select item 404398	NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro)	TNNT2 (L250P +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 537264	NM_001276345.2(TNNT2):c.778C>T (p.Leu260=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 181630	NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)	TNNT2 (D249N +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +5 more	GUncertain significance
Select item 43668	NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)	TNNT2	Single nucleotide variant (synonymous variant)	TNNT2-related condition +7 more	GLikely benign
Select item 181629	NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu)	TNNT2 (F248L +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GUncertain significance
Select item 1758832	NM_001276345.2(TNNT2):c.771G>A (p.Lys257=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 177873	NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)	TNNT2 (A245V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 43667	NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)	TNNT2 (E244D +5 more)	Single nucleotide variant (missense variant)	TNNT2-Related Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 191800	NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys)	TNNT2 (Y241C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 469528	NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln)	TNNT2 (E231Q +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 181605	NM_001276345.2(TNNT2):c.720-5T>G	TNNT2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 2564933	NM_001276345.2(TNNT2):c.719+3G>C	TNNT2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1172229	NM_001276345.2(TNNT2):c.719G>A (p.Arg240Lys)	TNNT2 (R197K +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +4 more	GUncertain significance
Select item 181626	NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys)	TNNT2 (E226K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 181604	NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)	TNNT2 (I221T +5 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 294895	NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)	TNNT2 (I228V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 518816	NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)	TNNT2 (R216K +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +4 more	GUncertain significance
Select item 1753480	NM_001276345.2(TNNT2):c.672G>A (p.Glu224=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1753109	NM_001276345.2(TNNT2):c.666G>C (p.Leu222=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 43659	NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	TNNT2 (K210del +5 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 180554	NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)	TNNT2 (R205W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1751172	NM_001276345.2(TNNT2):c.632G>A (p.Arg211Lys)	TNNT2 (R168K +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750434	NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg)	TNNT2 (K192R +7 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +3 more	GUncertain significance
Select item 537255	NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)	TNNT2 (R203Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 181625	NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp)	TNNT2 (R196W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 181624	NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)	TNNT2 (E195K +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 1332160	NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile)	TNNT2 (T161I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +4 more	GUncertain significance
Select item 1749656	NM_001276345.2(TNNT2):c.609+1G>C	TNNT2	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 132940	NM_001276345.2(TNNT2):c.601-1G>A	TNNT2	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1748193	NM_001276345.2(TNNT2):c.583G>C (p.Gly195Arg)	TNNT2 (G155R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748029	NM_001276345.2(TNNT2):c.580T>C (p.Phe194Leu)	TNNT2 (F184L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 43655	NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 177634	NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)	TNNT2 (S179F +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 1746332	NM_001276345.2(TNNT2):c.554A>G (p.Lys185Arg)	TNNT2 (K185R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745986	NM_001276345.2(TNNT2):c.549G>A (p.Arg183=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 43649	NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)	TNNT2 (R173Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 228409	NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)	TNNT2 (R173W +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +5 more	GPathogenic
Select item 1744818	NM_001276345.2(TNNT2):c.531G>A (p.Lys177=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 132941	NM_001276345.2(TNNT2):c.522C>T (p.Asn174=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 43648	NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)	TNNT2 (E163del +3 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 567696	NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)	TNNT2 (E163K +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 1743700	NM_001276345.2(TNNT2):c.516G>A (p.Glu172=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 43646	NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)	TNNT2 (R159* +3 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 519034	NM_001276345.2(TNNT2):c.499G>T (p.Ala167Ser)	TNNT2 (A157S +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 181619	NM_001276345.2(TNNT2):c.490-1G>C	TNNT2	Single nucleotide variant (splice acceptor variant)	Primary familial dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 961661	NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser)	TNNT2 (A148S +3 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1D +5 more	GUncertain significance
Select item 1741271	NM_001276345.2(TNNT2):c.482G>T (p.Arg161Leu)	TNNT2 (R121L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 537256	NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)	TNNT2 (R161C +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 43641	NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)	TNNT2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 181618	NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)	TNNT2 (R148Q +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1740374	NM_001276345.2(TNNT2):c.470A>G (p.Glu157Gly)	TNNT2 (E157G +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 469524	NM_001276345.2(TNNT2):c.463G>A (p.Glu155Lys)	TNNT2 (E155K +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 3 +3 more	GUncertain significance
Select item 404394	NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)	TNNT2 (R144Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1663639	NM_001276345.2(TNNT2):c.453G>C (p.Arg151=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +3 more	GLikely benign
Select item 181617	NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)	TNNT2 (R141Q +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 181635	NM_001276345.2(TNNT2):c.451del (p.Arg151fs)	TNNT2 (R151fs +3 more)	Deletion (frameshift variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43643	NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)	TNNT2	Single nucleotide variant (synonymous variant)	TNNT2-related condition +7 more	GBenign/Likely benign
Select item 516901	NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +5 more	GLikely benign
Select item 43640	NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)	TNNT2 (R139C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1636940	NM_001276345.2(TNNT2):c.444G>A (p.Gln148=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +4 more	GLikely benign
Select item 180552	NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)	TNNT2 (E136K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 703092	NM_001276345.2(TNNT2):c.435C>T (p.Ala145=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +4 more	GLikely benign
Select item 927685	NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)	TNNT2 (R134Q +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 518993	NM_001276345.2(TNNT2):c.430C>A (p.Arg144=)	TNNT2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 2 +4 more	GLikely benign
Select item 127070	NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)	TNNT2 (R134W +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +6 more	GConflicting classifications of pathogenicity
Select item 927049	NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)	TNNT2 (E133Q +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 12415	NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	TNNT2 (R131W +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 43636	NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	TNNT2 (R130C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 1735408	NM_001276345.2(TNNT2):c.413A>G (p.Glu138Gly)	TNNT2 (E138G +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1735342	NM_001276345.2(TNNT2):c.412G>C (p.Glu138Gln)	TNNT2 (E123Q +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 177785	NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)	TNNT2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1171755	NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser)	TNNT2 (R121S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 2554458	NM_001276345.2(TNNT2):c.404A>G (p.Asp135Gly)	TNNT2 (D120G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1000713	NM_001276345.2(TNNT2):c.404A>T (p.Asp135Val)	TNNT2 (D120V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 571790	NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)	TNNT2 (V131I +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity

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