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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439645	NM_000719.7(CACNA1C):c.-2C>T	CACNA1C	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 373514	NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala)	CACNA1C (P44A)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GUncertain significance
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 2439647	NM_000719.7(CACNA1C):c.1407T>G (p.Ser469Arg)	CACNA1C (S466R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190640	NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)	CACNA1C (R496Q +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2439646	NM_000719.7(CACNA1C):c.2530+1G>A	CACNA1C	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2439644	NM_000719.7(CACNA1C):c.3020G>C (p.Arg1007Thr)	CACNA1C (R1004T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688702	NM_000719.7(CACNA1C):c.3977C>T (p.Thr1326Ile)	CACNA1C (T1313I +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 526905	NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)	CACNA1C, CACNA1C-AS1 (G1700S +10 more)	Single nucleotide variant (missense variant)	not provided +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)	not specified +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)	Timothy syndrome +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)	Cardiovascular phenotype +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)	Cardiovascular phenotype +4 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)	Long QT syndrome +1 more	GUncertain significance