"Ambry Genetics"[submitter] AND "LOC130004109"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2565624	NM_014000.3(VCL):c.-4C>T	LOC130004109, VCL	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 1378723	NM_014000.3(VCL):c.20G>A (p.Arg7His)	LOC130004109, VCL (R7H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 640967	NM_014000.3(VCL):c.20G>T (p.Arg7Leu)	LOC130004109, VCL (R7L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 536703	NM_014000.3(VCL):c.32G>A (p.Ser11Asn)	LOC130004109, VCL (S11N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 240882	NM_014000.3(VCL):c.45G>A (p.Pro15=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 1112564	NM_014000.3(VCL):c.51A>G (p.Ala17=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +1 more	GLikely benign
Select item 1753297	NM_014000.3(VCL):c.63C>G (p.Ser21=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756573	NM_014000.3(VCL):c.69G>A (p.Leu23=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1759712	NM_014000.3(VCL):c.75A>C (p.Ile25=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1723062	NM_014000.3(VCL):c.79C>G (p.His27Asp)	LOC130004109, VCL (H27D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1658519	NM_014000.3(VCL):c.87G>A (p.Glu29=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +1 more	GLikely benign
Select item 1105627	NM_014000.3(VCL):c.99C>T (p.Asp33=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +1 more	GLikely benign
Select item 1797465	NM_014000.3(VCL):c.111T>C (p.Ile37=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1723116	NM_014000.3(VCL):c.118C>G (p.Leu40Val)	LOC130004109, VCL (L40V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 166535	NM_014000.3(VCL):c.120C>T (p.Leu40=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1755187	NM_014000.3(VCL):c.122C>T (p.Thr41Ile)	LOC130004109, VCL (T41I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1127343	NM_014000.3(VCL):c.129C>T (p.Pro43=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1770329	NM_014000.3(VCL):c.133G>A (p.Ala45Thr)	LOC130004109, VCL (A45T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 1771019	NM_014000.3(VCL):c.136G>T (p.Ala46Ser)	LOC130004109, VCL (A46S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21