"Clinical Genetics, Academic Medical Center"[submitter] AND "CACNA1C"[ - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93391	NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)	CACNA1C (G37R)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 35767	NM_000719.7(CACNA1C):c.171C>T (p.Asp57=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 35768	NM_000719.7(CACNA1C):c.372-15G>A	CACNA1C	Single nucleotide variant (intron variant)	Long qt syndrome 8 +5 more	GBenign
Select item 136613	NM_000719.7(CACNA1C):c.966C>T (p.His322=)	CACNA1C	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 416849	NM_000719.7(CACNA1C):c.984C>T (p.Asn328=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 166767	NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)	CACNA1C	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 190635	NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn)	CACNA1C (D448N +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
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 190638	NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val)	CACNA1C (A494V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 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 190612	NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 308137	NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=)	CACNA1C	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 420309	NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)	CACNA1C (P784S +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 93398	NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=)	CACNA1C	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 308139	NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)	CACNA1C (G813R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 456955	NM_000719.7(CACNA1C):c.2460+6G>A	CACNA1C	Single nucleotide variant (intron variant)	CACNA1C-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 190653	NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)	CACNA1C (R858H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1299950	NM_000719.7(CACNA1C):c.2664-7C>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 166769	NM_000719.7(CACNA1C):c.3049-10C>T	CACNA1C	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1284483	NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg)	CACNA1C (H1014R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929087	NM_000719.7(CACNA1C):c.3156+17G>A	CACNA1C	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 195932	NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 93402	NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)	CACNA1C	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 416850	NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=)	CACNA1C	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1284537	NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val)	CACNA1C (M1235V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93403	NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)	CACNA1C	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 190667	NM_000719.7(CACNA1C):c.3946-45C>G	CACNA1C (P1323A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 190617	NM_000719.7(CACNA1C):c.3946-12G>A	CACNA1C (D1334N)	Single nucleotide variant (missense variant +1 more)	CACNA1C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 527030	NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 93407	NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign
Select item 196995	NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)	CACNA1C	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 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)	Cardiovascular phenotype +3 more	GLikely benign
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)	Cardiovascular phenotype +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 93413	NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign
Select item 136638	NM_000719.7(CACNA1C):c.5445-586C>T	CACNA1C, CACNA1C-AS1 (P1820L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 136639	NM_000719.7(CACNA1C):c.5445-584A>G	CACNA1C-AS1, CACNA1C (M1821V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 136640	NM_000719.7(CACNA1C):c.5445-511=	CACNA1C, CACNA1C-AS1	Single nucleotide variant (no sequence alteration +1 more)	not specified +1 more	GBenign
Select item 93414	NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
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-AS1, CACNA1C (E1865K +13 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +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)	Cardiovascular phenotype +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)	not specified +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)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GBenign/Likely benign
Select item 93418	NM_000719.7(CACNA1C):c.5680+11C>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	not provided +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 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

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Items: 50