"Blueprint Genetics"[submitter] AND "CACNA1C"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190632	NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)	CACNA1C (G329S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 155775	NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C (G402S)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GPathogenic
Select item 190634	NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg)	CACNA1C (G406R)	Single nucleotide variant (missense variant +1 more)	Timothy syndrome +1 more	GPathogenic
Select item 155776	NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)	CACNA1C (E850del +1 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 222515	NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)	CACNA1C (P857L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GConflicting classifications of pathogenicity
Select item 180284	NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)	CACNA1C (R860P +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 93411	NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)	CACNA1C, CACNA1C-AS1 (A1717G +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 180285	NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr)	CACNA1C, CACNA1C-AS1 (R1815T +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 222516	NM_000719.7(CACNA1C):c.5534C>T (p.Thr1845Met)	CACNA1C, CACNA1C-AS1 (T1845M +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 180286	NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp)	CACNA1C, CACNA1C-AS1 (R1867W +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 222517	NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu)	CACNA1C, CACNA1C-AS1 (K1876E +13 more)	Single nucleotide variant (missense variant)	Sudden cardiac death	GUncertain significance
Select item 93419	NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)	CACNA1C, CACNA1C-AS1 (R1973Q +13 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign