"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691049	NM_003280.3(TNNC1):c.486G>T (p.Ter162Tyr)	TNNC1	Single nucleotide variant (stop lost)	Cardiomyopathy	GUncertain significance
Select item 239537	NM_003280.3(TNNC1):c.456G>A (p.Glu152=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 415848	NM_003280.3(TNNC1):c.454+7G>A	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +2 more	GConflicting classifications of pathogenicity
Select item 1284605	NM_003280.3(TNNC1):c.439C>T (p.Arg147Cys)	TNNC1 (R147C)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 12445	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)	TNNC1 (D145E)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1329256	NM_003280.3(TNNC1):c.433G>C (p.Asp145His)	TNNC1 (D145H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +2 more	GUncertain significance
Select item 181567	NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)	TNNC1 (N144D)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 626719	NM_003280.3(TNNC1):c.417C>T (p.Asp139=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +3 more	GLikely benign
Select item 383146	NM_003280.3(TNNC1):c.393C>T (p.Asp131=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 796005	NM_003280.3(TNNC1):c.384C>T (p.Ile128=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 181566	NM_003280.3(TNNC1):c.376G>A (p.Glu126Lys)	TNNC1 (E126K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +3 more	GUncertain significance
Select item 626720	NM_003280.3(TNNC1):c.317+8C>A	TNNC1	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 496210	NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu)	TNNC1 (R102L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +3 more	GUncertain significance
Select item 915760	NM_003280.3(TNNC1):c.276A>G (p.Lys92=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 626721	NM_003280.3(TNNC1):c.216G>A (p.Val72=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +3 more	GConflicting classifications of pathogenicity
Select item 44677	NM_003280.3(TNNC1):c.210C>T (p.Gly70=)	TNNC1	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 179947	NM_003280.3(TNNC1):c.203-10C>G	TNNC1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 626722	NM_003280.3(TNNC1):c.202+9C>T	TNNC1	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 178145	NM_003280.3(TNNC1):c.201C>T (p.Asp67=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
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 385093	NM_003280.3(TNNC1):c.90C>T (p.Gly30=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 181571	NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn)	TNNC1 (D25N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +3 more	GUncertain significance
Select item 346132	NM_003280.3(TNNC1):c.55+9C>A	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +2 more	GConflicting classifications of pathogenicity
Select item 12443	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	TNNC1 (A8V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +5 more	GPathogenic/Likely pathogenic

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Items: 24