C1832916[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190642	NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)	CACNA1C (R518C +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GPathogenic
Select item 392350	NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)	CACNA1C (A519T +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 560694	NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys)	CACNA1C (N639K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 93399	NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)	CACNA1C (P817S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 1699326	NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp)	CACNA1C (L1289W +3 more)	Single nucleotide variant (missense variant +1 more)	Timothy syndrome	GUncertain significance
Select item 1699479	NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro)	CACNA1C, CACNA1C-AS1 (L1638P +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome	GUncertain significance
Select item 1805658	NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg)	CACNA1C, CACNA1C-AS1 (H1832R +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome	GUncertain significance
Select item 851772	NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys)	CACNA1C, CACNA1C-AS1 (G2099C +13 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance