"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 308159	NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr)	CACNA1C, CACNA1C-AS1 (A1675T +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 190621	NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile)	CACNA1C, CACNA1C-AS1 (V1707I +10 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 377613	NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	CACNA1C-related disorder +4 more	GBenign/Likely benign
Select item 93414	NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 191566	NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)	CACNA1C, CACNA1C-AS1 (E1865K +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
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 +4 more	GBenign/Likely benign

ClinVar