"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CACNA1C-AS1"[gene - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1160375	NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +4 more	GLikely benign
Select item 1616593	NM_000719.7(CACNA1C):c.4957-15C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome +3 more	GLikely benign
Select item 190676	NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)	CACNA1C-AS1, CACNA1C (G1662R +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +6 more	GUncertain significance
Select item 416854	NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GLikely benign
Select item 190694	NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del)	CACNA1C-AS1, CACNA1C (E1678del +10 more)	Microsatellite (non-coding transcript variant +1 more)	Brugada syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 93409	NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Timothy syndrome +6 more	GBenign
Select item 526905	NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)	CACNA1C, CACNA1C-AS1 (G1700S +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 190622	NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)	CACNA1C, CACNA1C-AS1 (V1707A +10 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 526989	NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val)	CACNA1C-AS1, CACNA1C (A1717V +10 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +5 more	GConflicting classifications of pathogenicity
Select item 190623	NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Timothy syndrome +5 more	GBenign/Likely benign
Select item 190686	NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)	CACNA1C, CACNA1C-AS1 (A1733V +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 416877	NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 190688	NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)	CACNA1C-AS1, CACNA1C (R1780C +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +6 more	GConflicting classifications of pathogenicity
Select item 526952	NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)	CACNA1C, CACNA1C-AS1 (E1792G +10 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +5 more	GConflicting classifications of pathogenicity
Select item 411737	NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala)	CACNA1C, CACNA1C-AS1 (V1804A +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 381481	NM_000719.7(CACNA1C):c.5444+719G>A	CACNA1C, CACNA1C-AS1 (C1855Y)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 3 +4 more	GBenign/Likely benign
Select item 456980	NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)	CACNA1C, CACNA1C-AS1 (R1854Q +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 416867	NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 660329	NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)	CACNA1C, CACNA1C-AS1 (E1856A +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GUncertain significance
Select item 411730	NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del)	CACNA1C, CACNA1C-AS1 (E1874del +13 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 279723	NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro)	CACNA1C, CACNA1C-AS1 (A1939P +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1013997	NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser)	CACNA1C, CACNA1C-AS1 (G1883S +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 526961	NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln)	CACNA1C, CACNA1C-AS1 (R1943Q +13 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +4 more	GConflicting classifications of pathogenicity
Select item 402467	NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)	CACNA1C, CACNA1C-AS1 (R1906Q +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 191427	NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)	CACNA1C-AS1, CACNA1C (G1911R +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +7 more	GConflicting classifications of pathogenicity
Select item 638926	NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)	CACNA1C, CACNA1C-AS1 (I1911S +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +3 more	GUncertain significance
Select item 843126	NM_000719.7(CACNA1C):c.5784+4G>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 1432134	NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg)	CACNA1C, CACNA1C-AS1 (P1959R +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 190626	NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)	CACNA1C, CACNA1C-AS1 (R1962Q +13 more)	Single nucleotide variant (missense variant)	CACNA1C-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 970605	NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu)	CACNA1C, CACNA1C-AS1 (P1962L +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 847588	NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg)	CACNA1C, CACNA1C-AS1 (Q1956R +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 190628	NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe)	CACNA1C-AS1, CACNA1C (C1992F +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +6 more	GConflicting classifications of pathogenicity
Select item 1525632	NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val)	CACNA1C, CACNA1C-AS1 (A1985V +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 238176	NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile)	CACNA1C, CACNA1C-AS1 (T1999I +13 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 575699	NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)	CACNA1C, CACNA1C-AS1 (G2084S +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 456989	NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)	CACNA1C, CACNA1C-AS1 (G2052V +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 1045556	NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg)	CACNA1C, CACNA1C-AS1 (S2023R +13 more)	Single nucleotide variant (missense variant)	Brugada syndrome 3 +3 more	GUncertain significance
Select item 411718	NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)	CACNA1C, CACNA1C-AS1 (R2047W +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 456990	NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Timothy syndrome +5 more	GLikely benign
Select item 411732	NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro)	CACNA1C, CACNA1C-AS1 (A2022P +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1003227	NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)	CACNA1C, CACNA1C-AS1 (G2020S +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 197560	NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)	CACNA1C, CACNA1C-AS1 (K2054R +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CACNA1C-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 1578634	NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GLikely benign
Select item 190695	NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs)	CACNA1C, CACNA1C-AS1 (E2100fs +13 more)	Duplication (non-coding transcript variant +1 more)	Long QT syndrome +6 more	GUncertain significance
Select item 456998	NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln)	CACNA1C, CACNA1C-AS1 (E2112Q +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 377616	NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +5 more	GBenign/Likely benign

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Items: 46