"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190635	NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn)	CACNA1C (D448N +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 190638	NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val)	CACNA1C (A494V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 308139	NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)	CACNA1C (G813R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 93403	NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)	CACNA1C	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 93413	NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign
Select item 136638	NM_000719.7(CACNA1C):c.5445-586C>T	CACNA1C, CACNA1C-AS1 (P1820L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 136639	NM_000719.7(CACNA1C):c.5445-584A>G	CACNA1C-AS1, CACNA1C (M1821V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 136640	NM_000719.7(CACNA1C):c.5445-511=	CACNA1C, CACNA1C-AS1	Single nucleotide variant (no sequence alteration +1 more)	not specified +1 more	GBenign
Select item 191567	NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)	CACNA1C, CACNA1C-AS1 (T1870M +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign