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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136613	NM_000719.7(CACNA1C):c.966C>T (p.His322=)	CACNA1C	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +5 more	GBenign/Likely benign
Select item 416849	NM_000719.7(CACNA1C):c.984C>T (p.Asn328=)	CACNA1C	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +3 more	GBenign/Likely benign
Select item 17634	NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)	CACNA1C (G490R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 392350	NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)	CACNA1C (A519T +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +6 more	GUncertain significance
Select item 519274	NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)	CACNA1C (V585M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 308137	NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 195932	NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 308145	NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)	CACNA1C	Single nucleotide variant (synonymous variant)	Brugada syndrome 3 +7 more	GBenign/Likely benign
Select item 93402	NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)	CACNA1C	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +4 more	GConflicting classifications of pathogenicity
Select item 93403	NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)	CACNA1C	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +5 more	GConflicting classifications of pathogenicity
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 provided +3 more	GLikely benign
Select item 377613	NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 93414	NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +5 more	GBenign/Likely benign
Select item 191566	NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)	CACNA1C-AS1, CACNA1C (E1865K +13 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +6 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)	History of neurodevelopmental disorder +5 more	GBenign/Likely benign