"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TNNC1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 346130	NM_003280.3(TNNC1):c.*75G>A	TNNC1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 12445	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)	TNNC1 (D145E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 860219	NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr)	TNNC1 (I119T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 181565	NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys)	TNNC1 (R102C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1002556	NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser)	TNNC1 (G70S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +3 more	GUncertain significance
Select item 1053661	NM_003280.3(TNNC1):c.202+5G>C	TNNC1	Single nucleotide variant (intron variant)	TNNC1-related disorder +4 more	GUncertain significance
Select item 1509784	NM_003280.3(TNNC1):c.202G>A (p.Gly68Ser)	TNNC1 (G68S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 409872	NM_003280.3(TNNC1):c.175dup (p.Glu59fs)	TNNC1 (E59fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 12443	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	TNNC1 (A8V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic