"Clinical Genetics, Academic Medical Center"[submitter] AND "TNNC1"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1284605	NM_003280.3(TNNC1):c.439C>T (p.Arg147Cys)	TNNC1 (R147C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1284827	NM_003280.3(TNNC1):c.248G>A (p.Arg83Gln)	TNNC1 (R83Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 165493	NM_003280.3(TNNC1):c.203-5C>T	TNNC1	Single nucleotide variant (intron variant)	TNNC1-related disorder +5 more	GBenign/Likely benign
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 537985	NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala)	TNNC1 (T53A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +2 more	GUncertain significance
Select item 1284765	NM_003280.3(TNNC1):c.144G>T (p.Leu48=)	TNNC1	Single nucleotide variant (synonymous variant)	not provided +1 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 12443	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	TNNC1 (A8V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GPathogenic/Likely pathogenic