"GeneDx"[submitter] AND "CACNA1C-AS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 1234525	NM_000719.7(CACNA1C):c.4829-298A>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 673566	NM_000719.7(CACNA1C):c.4829-145C>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GBenign
Select item 1194795	NM_000719.7(CACNA1C):c.4829-67dup	CACNA1C, CACNA1C-AS1	Duplication (intron variant +1 more)	not provided	GLikely benign
Select item 1292348	NM_000719.7(CACNA1C):c.4829-24CT[3]	CACNA1C, CACNA1C-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 377611	NM_000719.7(CACNA1C):c.4829-8C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 136629	NM_000719.7(CACNA1C):c.4829-7G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 939667	NM_000719.7(CACNA1C):c.4858G>A (p.Ala1620Thr)	CACNA1C-AS1, CACNA1C (A1640T +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 386642	NM_000719.7(CACNA1C):c.4860C>A (p.Ala1620=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1310690	NM_000719.7(CACNA1C):c.4862C>T (p.Thr1621Met)	CACNA1C, CACNA1C-AS1 (T1610M +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2921274	NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter)	CACNA1C, CACNA1C-AS1 (Q1614* +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 190693	NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg)	CACNA1C, CACNA1C-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 190674	NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser)	CACNA1C, CACNA1C-AS1 (P1643S +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 197406	NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)	CACNA1C, CACNA1C-AS1 (A1648T +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Timothy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 385538	NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +2 more	GLikely benign
Select item 678680	NM_000719.7(CACNA1C):c.4956+13G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 379056	NM_000719.7(CACNA1C):c.4956+16C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 811053	NM_000719.7(CACNA1C):c.4956+17G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GBenign
Select item 1289795	NM_000719.7(CACNA1C):c.4956+147_4956+149dup	CACNA1C, CACNA1C-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 695149	NM_000719.7(CACNA1C):c.4957-222G>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 695174	NM_000719.7(CACNA1C):c.4957-207C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +1 more	GBenign
Select item 1194219	NM_000719.7(CACNA1C):c.4957-48_4957-41dup	CACNA1C, CACNA1C-AS1	Duplication (intron variant +1 more)	not provided	GLikely benign
Select item 1188071	NM_000719.7(CACNA1C):c.4957-32G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 517693	NM_000719.7(CACNA1C):c.4957-12C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2573713	NM_000719.7(CACNA1C):c.4957-1G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 385171	NM_000719.7(CACNA1C):c.5016T>C (p.Asp1672=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
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 190708	NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly)	CACNA1C, CACNA1C-AS1 (E1678G +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1310542	NM_000719.7(CACNA1C):c.5044G>A (p.Ala1682Thr)	CACNA1C, CACNA1C-AS1 (A1671T +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 136630	NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 190677	NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr)	CACNA1C-AS1, CACNA1C (A1689T +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 1313855	NM_000719.7(CACNA1C):c.5091+1G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 666092	NM_000719.7(CACNA1C):c.5091+3G>A	CACNA1C-AS1, CACNA1C	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1269076	NM_000719.7(CACNA1C):c.5091+14T>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 377612	NM_000719.7(CACNA1C):c.5091+17C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 136631	NM_000719.7(CACNA1C):c.5091+18G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 670941	NM_000719.7(CACNA1C):c.5091+25C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1270803	NM_000719.7(CACNA1C):c.5091+189A>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202071	NM_000719.7(CACNA1C):c.5092-221G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199048	NM_000719.7(CACNA1C):c.5092-109A>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218181	NM_000719.7(CACNA1C):c.5092-40C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143201	NM_000719.7(CACNA1C):c.5092-5T>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3364782	NM_000719.7(CACNA1C):c.5095G>A (p.Ala1699Thr)	CACNA1C, CACNA1C-AS1 (A1688T +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1309437	NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg)	CACNA1C, CACNA1C-AS1 (G1689R +10 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1698058	NM_000719.7(CACNA1C):c.5116C>G (p.His1706Asp)	CACNA1C, CACNA1C-AS1 (H1695D +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 3377907	NM_000719.7(CACNA1C):c.5117A>G (p.His1706Arg)	CACNA1C, CACNA1C-AS1 (H1695R +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809839	NM_000719.7(CACNA1C):c.5118C>G (p.His1706Gln)	CACNA1C, CACNA1C-AS1 (H1695Q +10 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 3338711	NM_000719.7(CACNA1C):c.5122A>G (p.Ser1708Gly)	CACNA1C, CACNA1C-AS1 (S1697G +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895832	NM_000719.7(CACNA1C):c.5128T>A (p.Tyr1710Asn)	CACNA1C, CACNA1C-AS1 (Y1707N +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 456975	NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 449139	NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly)	CACNA1C-AS1, CACNA1C (D1713G +10 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 93410	NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 281999	NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser)	CACNA1C, CACNA1C-AS1 (G1762S +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 190685	NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln)	CACNA1C-AS1, CACNA1C (R1715Q +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 429850	NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs)	CACNA1C, CACNA1C-AS1 (H1737fs +10 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 215771	NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr)	CACNA1C, CACNA1C-AS1 (A1717T +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 93411	NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)	CACNA1C, CACNA1C-AS1 (A1717G +10 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 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 1215364	NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser)	CACNA1C, CACNA1C-AS1 (T1710S +10 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 526947	NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val)	CACNA1C, CACNA1C-AS1 (F1722V +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1198139	NM_000719.7(CACNA1C):c.5177G>A (p.Arg1726His)	CACNA1C, CACNA1C-AS1 (R1715H +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515242	NM_000719.7(CACNA1C):c.5181G>A (p.Pro1727=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely 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 503754	NM_000719.7(CACNA1C):c.5201del (p.Gly1734fs)	CACNA1C-AS1, CACNA1C (G1734fs +10 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 377613	NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 238174	NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 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 1241941	NM_000719.7(CACNA1C):c.5223G>A (p.Glu1741=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 515134	NM_000719.7(CACNA1C):c.5226G>A (p.Ser1742=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 3369634	NM_000719.7(CACNA1C):c.5231C>G (p.Ser1744Cys)	CACNA1C, CACNA1C-AS1 (S1733C +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190624	NM_000719.7(CACNA1C):c.5235C>T (p.His1745=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 967847	NM_000719.7(CACNA1C):c.5236G>A (p.Glu1746Lys)	CACNA1C-AS1, CACNA1C (E1743K +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3373631	NM_000719.7(CACNA1C):c.5242C>G (p.Leu1748Val)	CACNA1C, CACNA1C-AS1 (L1737V +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 136633	NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 2501628	NM_000719.7(CACNA1C):c.5294C>T (p.Ala1765Val)	CACNA1C, CACNA1C-AS1 (A1754V +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314279	NM_000719.7(CACNA1C):c.5299A>G (p.Ile1767Val)	CACNA1C, CACNA1C-AS1 (I1756V +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 197455	NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 136634	NM_000719.7(CACNA1C):c.5331C>T (p.Arg1777=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 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 527056	NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 1312794	NM_000719.7(CACNA1C):c.5350_5386del (p.Tyr1784fs)	CACNA1C, CACNA1C-AS1 (Y1773fs +10 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 136635	NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met)	CACNA1C, CACNA1C-AS1 (T1787M +10 more)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GBenign
Select item 93413	NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign
Select item 191565	NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg)	CACNA1C, CACNA1C-AS1 (G1795R +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GBenign
Select item 3372787	NM_000719.7(CACNA1C):c.5390C>A (p.Pro1797His)	CACNA1C, CACNA1C-AS1 (P1786H +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 238175	NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 136636	NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1190479	NM_000719.7(CACNA1C):c.5444+47C>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683272	NM_000719.7(CACNA1C):c.5444+259A>G	CACNA1C-AS1, CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GBenign
Select item 1257390	NM_000719.7(CACNA1C):c.5444+439_5444+440insA	CACNA1C, CACNA1C-AS1	Insertion (intron variant)	not provided	GBenign
Select item 3370976	NM_000719.7(CACNA1C):c.5444+593G>T	CACNA1C, CACNA1C-AS1 (G1813V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 191426	NM_000719.7(CACNA1C):c.5444+599C>A	CACNA1C, CACNA1C-AS1 (T1815N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 377614	NM_000719.7(CACNA1C):c.5444+609C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign

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