"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 879269	NM_014000.3(VCL):c.36C>T (p.Ile12=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 202145	NM_014000.3(VCL):c.81C>T (p.His27=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +3 more	GConflicting classifications of pathogenicity
Select item 166535	NM_014000.3(VCL):c.120C>T (p.Leu40=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1329297	NM_014000.3(VCL):c.134_135inv (p.Ala45Gly)	LOC130004109, VCL (A45G)	Inversion (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1329298	NM_014000.3(VCL):c.135C>G (p.Ala45=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1329299	NM_014000.3(VCL):c.140T>G (p.Val47Gly)	VCL (V47G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 229631	NM_014000.3(VCL):c.163G>T (p.Val55Phe)	VCL (V55F)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +3 more	GUncertain significance
Select item 510503	NM_014000.3(VCL):c.169-10delinsTG	VCL	Indel (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 536721	NM_014000.3(VCL):c.255C>T (p.Cys85=)	VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +2 more	GLikely benign
Select item 45606	NM_014000.3(VCL):c.313C>T (p.Arg105Ter)	VCL (R105*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1W +3 more	GUncertain significance
Select item 45612	NM_014000.3(VCL):c.366G>A (p.Leu122=)	VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +4 more	GBenign/Likely benign
Select item 45613	NM_014000.3(VCL):c.378C>T (p.Phe126=)	VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 192100	NM_014000.3(VCL):c.404T>C (p.Ile135Thr)	VCL (I135T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 915719	NM_014000.3(VCL):c.486G>C (p.Lys162Asn)	VCL (K162N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 626752	NM_014000.3(VCL):c.500G>A (p.Gly167Glu)	VCL (G167E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 45617	NM_014000.3(VCL):c.590C>T (p.Thr197Ile)	VCL (T197I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 166538	NM_014000.3(VCL):c.622+4C>T	VCL	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 488174	NM_014000.3(VCL):c.625A>T (p.Met209Leu)	VCL (M209L)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 626753	NM_014000.3(VCL):c.626T>A (p.Met209Lys)	VCL (M209K)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 45619	NM_014000.3(VCL):c.660C>T (p.Asn220=)	VCL	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 12198	NM_014000.3(VCL):c.829C>A (p.Leu277Met)	VCL (L277M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +6 more	GConflicting classifications of pathogenicity
Select item 45622	NM_014000.3(VCL):c.945C>A (p.Gly315=)	VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +4 more	GBenign/Likely benign
Select item 626455	NM_014000.3(VCL):c.963del (p.Leu322fs)	VCL (L322fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 915720	NM_014000.3(VCL):c.1019C>T (p.Ala340Val)	VCL (A340V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 657948	NM_014000.3(VCL):c.1039C>T (p.Pro347Ser)	VCL (P347S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 192102	NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)	VCL (K386R)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 45575	NM_014000.3(VCL):c.1237G>A (p.Ala413Thr)	VCL (A413T)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely benign
Select item 137902	NM_014000.3(VCL):c.1290C>T (p.Asp430=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 166543	NM_014000.3(VCL):c.1294C>G (p.Leu432Val)	VCL (L432V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 45577	NM_014000.3(VCL):c.1317T>C (p.Ser439=)	VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 505024	NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)	VCL (I497T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +5 more	GUncertain significance
Select item 626456	NM_014000.3(VCL):c.1521C>T (p.Pro507=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 468808	NM_014000.3(VCL):c.1534C>T (p.Arg512Cys)	VCL (R512C)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 45581	NM_014000.3(VCL):c.1542C>T (p.Val514=)	VCL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 45582	NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)	VCL (I519L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 45583	NM_014000.3(VCL):c.1557C>A (p.Ile519=)	VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +5 more	GBenign
Select item 263345	NM_014000.3(VCL):c.1621C>G (p.Leu541Val)	VCL (L541V)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 45587	NM_014000.3(VCL):c.1671C>T (p.Asp557=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 508988	NM_014000.3(VCL):c.1743+6A>T	VCL	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 45591	NM_014000.3(VCL):c.1798A>C (p.Ser600Arg)	VCL (S600R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 915770	NM_014000.3(VCL):c.1857G>A (p.Ala619=)	VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +2 more	GLikely benign
Select item 2691147	NM_014000.3(VCL):c.1873-7C>T	VCL	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 166548	NM_014000.3(VCL):c.1888G>A (p.Ala630Thr)	VCL (A630T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 36896	NM_014000.3(VCL):c.2025G>A (p.Val675=)	VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 166551	NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)	VCL (L682F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +7 more	GConflicting classifications of pathogenicity
Select item 626457	NM_014000.3(VCL):c.2143G>A (p.Glu715Lys)	VCL (E715K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 915771	NM_014000.3(VCL):c.2247G>A (p.Leu749=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1223484	NM_014000.3(VCL):c.2284C>T (p.Arg762Trp)	VCL (R762W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +3 more	GUncertain significance
Select item 1122893	NM_014000.3(VCL):c.2349G>A (p.Val783=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 915772	NM_014000.3(VCL):c.2407G>A (p.Ala803Thr)	VCL (A803T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 202149	NM_014000.3(VCL):c.2467C>T (p.Arg823Trp)	VCL (R823W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1329300	NM_014000.3(VCL):c.2520T>G (p.Pro840=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 192106	NM_014000.3(VCL):c.2521G>C (p.Asp841His)	VCL (D841H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2442879	NM_014000.3(VCL):c.2539C>G (p.Pro847Ala)	VCL (P847A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 137900	NM_014000.3(VCL):c.2799G>A (p.Ala933=)	VCL	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 45599	NM_014000.3(VCL):c.2801C>T (p.Ala934Val)	VCL (A934V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 192181	NM_014000.3(VCL):c.2827C>G (p.Pro943Ala)	VCL (P943A)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GLikely benign
Select item 626458	NM_014000.3(VCL):c.2867T>G (p.Met956Arg)	VCL (M956R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 263962	NM_014000.3(VCL):c.2875A>C (p.Asn959His)	VCL (N959H)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1W +3 more	GConflicting classifications of pathogenicity
Select item 45603	NM_014000.3(VCL):c.2969C>T (p.Ala990Val)	VCL (A990V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 45609	NM_014000.3(VCL):c.3258+10A>T	VCL	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 536707	NM_014000.3(VCL):c.3267G>C (p.Glu1089Asp)	VCL (E1089D +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 137901	NM_014000.3(VCL):c.3333T>C (p.Ala1111=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 2442992	NM_014000.3(VCL):c.3350G>A (p.Arg1117Gln)	VCL (R1049Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 760040	NM_014000.3(VCL):c.3363A>C (p.Gly1121=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign

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Items: 65