"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93409	NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
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 238174	NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 136632	NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 379048	NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	CACNA1C-related disorder +3 more	GLikely 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 191567	NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)	CACNA1C, CACNA1C-AS1 (T1870M +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 872568	NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 93416	NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 93417	NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)	CACNA1C, CACNA1C-AS1 (R1889C +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 93418	NM_000719.7(CACNA1C):c.5680+11C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
Select item 35769	NM_000719.7(CACNA1C):c.5680+15C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign
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
Select item 1285207	NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys)	CACNA1C, CACNA1C-AS1 (R2090K +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 383377	NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign