"GeneDx"[submitter] AND "LOC130004109"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 381051	NM_014000.3(VCL):c.-13G>A	LOC130004109, VCL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2056170	NM_014000.3(VCL):c.4C>G (p.Pro2Ala)	LOC130004109, VCL (P2A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 640967	NM_014000.3(VCL):c.20G>T (p.Arg7Leu)	VCL, LOC130004109 (R7L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +3 more	GUncertain significance
Select item 202152	NM_014000.3(VCL):c.50C>A (p.Ala17Glu)	LOC130004109, VCL (A17E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723062	NM_014000.3(VCL):c.79C>G (p.His27Asp)	LOC130004109, VCL (H27D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
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 1723116	NM_014000.3(VCL):c.118C>G (p.Leu40Val)	VCL, LOC130004109 (L40V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 166535	NM_014000.3(VCL):c.120C>T (p.Leu40=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +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