"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202145	NM_014000.3(VCL):c.81C>T (p.His27=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 450840	NM_014000.3(VCL):c.379G>A (p.Asp127Asn)	VCL (D127N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166536	NM_014000.3(VCL):c.492T>G (p.Leu164=)	VCL	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 468823	NM_014000.3(VCL):c.528C>T (p.Asp176=)	VCL	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1285065	NM_014000.3(VCL):c.539A>G (p.Gln180Arg)	VCL (Q180R)	Single nucleotide variant (missense variant)	VCL-related disorder +1 more	GUncertain significance
Select item 45617	NM_014000.3(VCL):c.590C>T (p.Thr197Ile)	VCL (T197I)	Single nucleotide variant (missense variant)	not provided +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 45619	NM_014000.3(VCL):c.660C>T (p.Asn220=)	VCL	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 969844	NM_014000.3(VCL):c.689G>A (p.Arg230His)	VCL (R230H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 498457	NM_014000.3(VCL):c.875-24T>A	VCL	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1284679	NM_014000.3(VCL):c.875-5T>C	VCL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 381302	NM_014000.3(VCL):c.1177-14G>A	VCL	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1W +1 more	GConflicting classifications of pathogenicity
Select item 468803	NM_014000.3(VCL):c.1206G>A (p.Pro402=)	VCL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1175110	NM_014000.3(VCL):c.1294C>T (p.Leu432=)	VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 202158	NM_014000.3(VCL):c.1298G>A (p.Arg433His)	VCL (R433H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +3 more	GUncertain significance
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 45581	NM_014000.3(VCL):c.1542C>T (p.Val514=)	VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 45582	NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)	VCL (I519L)	Single nucleotide variant (missense variant)	Ventricular tachycardia +5 more	GConflicting classifications of pathogenicity
Select item 45587	NM_014000.3(VCL):c.1671C>T (p.Asp557=)	VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1284932	NM_014000.3(VCL):c.1681A>G (p.Arg561Gly)	VCL (R561G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 45592	NM_014000.3(VCL):c.1842G>A (p.Thr614=)	VCL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 45594	NM_014000.3(VCL):c.1907A>G (p.His636Arg)	VCL (H636R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 202144	NM_014000.3(VCL):c.2023-20A>G	VCL	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1W +2 more	GBenign
Select item 36896	NM_014000.3(VCL):c.2025G>A (p.Val675=)	VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +4 more	GConflicting classifications of pathogenicity
Select item 468815	NM_014000.3(VCL):c.2276G>A (p.Arg759Gln)	VCL (R759Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 640172	NM_014000.3(VCL):c.2285G>A (p.Arg762Gln)	VCL (R762Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 1122893	NM_014000.3(VCL):c.2349G>A (p.Val783=)	VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 202149	NM_014000.3(VCL):c.2467C>T (p.Arg823Trp)	VCL (R823W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 192106	NM_014000.3(VCL):c.2521G>C (p.Asp841His)	VCL (D841H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 45599	NM_014000.3(VCL):c.2801C>T (p.Ala934Val)	VCL (A934V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 964925	NM_014000.3(VCL):c.2848G>A (p.Glu950Lys)	VCL (E950K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 671288	NM_014000.3(VCL):c.2950-22C>G	VCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174852	NM_014000.3(VCL):c.3154-6C>T	VCL	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 45609	NM_014000.3(VCL):c.3258+10A>T	VCL	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity

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Items: 34