"Ambry Genetics"[submitter] AND "TNNC1"[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1648639	NM_003280.3(TNNC1):c.474G>A (p.Lys158=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +2 more	GLikely benign
Select item 181569	NM_003280.3(TNNC1):c.469A>C (p.Met157Leu)	TNNC1 (M157L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1677438	NM_003280.3(TNNC1):c.456G>C (p.Glu152Asp)	TNNC1 (E152D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44683	NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn)	TNNC1 (D149N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1740670	NM_003280.3(TNNC1):c.444C>A (p.Ile148=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 700167	NM_003280.3(TNNC1):c.444C>T (p.Ile148=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 949818	NM_003280.3(TNNC1):c.440G>A (p.Arg147His)	TNNC1 (R147H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +2 more	GUncertain significance
Select item 1509428	NM_003280.3(TNNC1):c.436G>A (p.Gly146Ser)	TNNC1 (G146S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 228016	NM_003280.3(TNNC1):c.435C>T (p.Asp145=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +4 more	GLikely benign
Select item 12445	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)	TNNC1 (D145E)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 1290278	NM_003280.3(TNNC1):c.432C>T (p.Asn144=)	TNNC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 181567	NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)	TNNC1 (N144D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1738994	NM_003280.3(TNNC1):c.424_425del (p.Lys142fs)	TNNC1 (K142fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 643139	NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu)	TNNC1 (G140E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 960916	NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg)	TNNC1 (G140R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +2 more	GUncertain significance
Select item 626719	NM_003280.3(TNNC1):c.417C>T (p.Asp139=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 2565481	NM_003280.3(TNNC1):c.416A>G (p.Asp139Gly)	TNNC1 (D139G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2585944	NM_003280.3(TNNC1):c.412A>G (p.Lys138Glu)	TNNC1 (K138E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737187	NM_003280.3(TNNC1):c.402G>A (p.Glu134=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 44681	NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp)	TNNC1 (E134D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 470558	NM_003280.3(TNNC1):c.400G>A (p.Glu134Lys)	TNNC1 (E134K)	Single nucleotide variant (missense variant)	TNNC1-related condition +4 more	GUncertain significance
Select item 383146	NM_003280.3(TNNC1):c.393C>T (p.Asp131=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +4 more	GLikely benign
Select item 44679	NM_003280.3(TNNC1):c.387G>C (p.Thr129=)	TNNC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 518916	NM_003280.3(TNNC1):c.386C>T (p.Thr129Met)	TNNC1 (T129M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +3 more	GUncertain significance
Select item 1734641	NM_003280.3(TNNC1):c.375C>T (p.Gly125=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +2 more	GLikely benign
Select item 1733495	NM_003280.3(TNNC1):c.363G>T (p.Leu121=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 1063181	NM_003280.3(TNNC1):c.341T>G (p.Leu114Arg)	TNNC1 (L114R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 220797	NM_003280.3(TNNC1):c.336C>T (p.Ile112=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 1567799	NM_003280.3(TNNC1):c.327T>C (p.Asp109=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 44678	NM_003280.3(TNNC1):c.324T>C (p.Ala108=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1053525	NM_003280.3(TNNC1):c.305G>A (p.Arg102His)	TNNC1 (R102H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 181565	NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys)	TNNC1 (R102C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1607800	NM_003280.3(TNNC1):c.261C>T (p.Asp87=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +2 more	GLikely benign
Select item 1677380	NM_003280.3(TNNC1):c.243G>C (p.Met81Ile)	TNNC1 (M81I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +3 more	GUncertain significance
Select item 281574	NM_003280.3(TNNC1):c.242T>C (p.Met81Thr)	TNNC1 (M81T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1790989	NM_003280.3(TNNC1):c.241A>T (p.Met81Leu)	TNNC1 (M81L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2585943	NM_003280.3(TNNC1):c.230del (p.Phe77fs)	TNNC1 (F77fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2585942	NM_003280.3(TNNC1):c.225T>G (p.Asp75Glu)	TNNC1 (D75E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1580402	NM_003280.3(TNNC1):c.222T>C (p.Phe74=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 626721	NM_003280.3(TNNC1):c.216G>A (p.Val72=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +4 more	GConflicting classifications of pathogenicity
Select item 415847	NM_003280.3(TNNC1):c.213G>A (p.Thr71=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 992793	NM_003280.3(TNNC1):c.212C>T (p.Thr71Met)	TNNC1 (T71M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 44677	NM_003280.3(TNNC1):c.210C>T (p.Gly70=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +5 more	GConflicting classifications of pathogenicity
Select item 1002556	NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser)	TNNC1 (G70S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 378737	NM_003280.3(TNNC1):c.207C>T (p.Ser69=)	TNNC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 165493	NM_003280.3(TNNC1):c.203-5C>T	TNNC1	Single nucleotide variant (intron variant)	TNNC1-related condition +5 more	GBenign/Likely benign
Select item 1053661	NM_003280.3(TNNC1):c.202+5G>C	TNNC1	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 178145	NM_003280.3(TNNC1):c.201C>T (p.Asp67=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 537986	NM_003280.3(TNNC1):c.195C>T (p.Asp65=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GConflicting classifications of pathogenicity
Select item 221030	NM_003280.3(TNNC1):c.189G>T (p.Glu63Asp)	TNNC1 (E63D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +2 more	GUncertain significance
Select item 265805	NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn)	TNNC1 (D62N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 383379	NM_003280.3(TNNC1):c.183C>T (p.Ile61=)	TNNC1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1016295	NM_003280.3(TNNC1):c.180G>A (p.Met60Ile)	TNNC1 (M60I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +3 more	GUncertain significance
Select item 1991753	NM_003280.3(TNNC1):c.168G>A (p.Glu56=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1775877	NM_003280.3(TNNC1):c.158C>A (p.Thr53Asn)	TNNC1 (T53N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 181572	NM_003280.3(TNNC1):c.155C>G (p.Pro52Arg)	TNNC1 (P52R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2585941	NM_003280.3(TNNC1):c.154C>T (p.Pro52Ser)	TNNC1 (P52S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758034	NM_003280.3(TNNC1):c.123G>T (p.Leu41=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739077	NM_003280.3(TNNC1):c.116A>G (p.Lys39Arg)	TNNC1 (K39R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 179034	NM_003280.3(TNNC1):c.108C>A (p.Ile36=)	TNNC1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 680497	NM_003280.3(TNNC1):c.105C>T (p.Cys35=)	TNNC1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 386490	NM_003280.3(TNNC1):c.102C>A (p.Gly34=)	TNNC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 537983	NM_003280.3(TNNC1):c.94G>A (p.Glu32Lys)	TNNC1 (E32K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +2 more	GUncertain significance
Select item 1123179	NM_003280.3(TNNC1):c.93T>C (p.Ala31=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 385093	NM_003280.3(TNNC1):c.90C>T (p.Gly30=)	TNNC1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 239536	NM_003280.3(TNNC1):c.72C>T (p.Phe24=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +2 more	GLikely benign
Select item 1754405	NM_003280.3(TNNC1):c.65C>T (p.Ala22Val)	TNNC1 (A22V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +2 more	GUncertain significance
Select item 2476488	NM_003280.3(TNNC1):c.57G>T (p.Glu19Asp)	TNNC1 (E19D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747287	NM_003280.3(TNNC1):c.53A>C (p.Asn18Thr)	TNNC1 (N18T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 691810	NM_003280.3(TNNC1):c.25G>A (p.Val9Ile)	TNNC1 (V9I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 12443	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	TNNC1 (A8V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 1055915	NM_003280.3(TNNC1):c.17A>G (p.Lys6Arg)	TNNC1 (K6R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44684	NM_003280.3(TNNC1):c.5A>G (p.Asp2Gly)	TNNC1 (D2G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance

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Items: 73