"Revvity Omics, Revvity"[submitter] AND "CACNA1C-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 526905	NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)	CACNA1C, CACNA1C-AS1 (G1700S +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 191427	NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)	CACNA1C-AS1, CACNA1C (G1911R +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +7 more	GConflicting classifications of pathogenicity
Select item 67556	NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)	CACNA1C, CACNA1C-AS1 (V2014I +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 197560	NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)	CACNA1C, CACNA1C-AS1 (K2054R +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CACNA1C-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 216482	NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)	CACNA1C-AS1, CACNA1C (N2091S +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2418467	NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg)	CACNA1C, CACNA1C-AS1 (G2098R +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance

ClinVar