"Biesecker Lab/Clinical Genomics Section, National Institutes of Healt - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 192100	NM_014000.3(VCL):c.404T>C (p.Ile135Thr)	VCL (I135T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +3 more	GConflicting classifications of pathogenicity
Select item 45617	NM_014000.3(VCL):c.590C>T (p.Thr197Ile)	VCL (T197I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 45620	NM_014000.3(VCL):c.688C>T (p.Arg230Cys)	VCL (R230C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +4 more	GUncertain significance
Select item 192101	NM_014000.3(VCL):c.695T>A (p.Phe232Tyr)	VCL (F232Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 192102	NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)	VCL (K386R)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 192103	NM_014000.3(VCL):c.1192C>T (p.Pro398Ser)	VCL (P398S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +3 more	GConflicting classifications of pathogenicity
Select item 166542	NM_014000.3(VCL):c.1198G>T (p.Gly400Cys)	VCL (G400C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 192104	NM_014000.3(VCL):c.1225C>T (p.Arg409Ter)	VCL (R409*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1W +3 more	GConflicting classifications of pathogenicity
Select item 45575	NM_014000.3(VCL):c.1237G>A (p.Ala413Thr)	VCL (A413T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +5 more	GLikely benign
Select item 166543	NM_014000.3(VCL):c.1294C>G (p.Leu432Val)	VCL (L432V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 45582	NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)	VCL (I519L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +6 more	GConflicting classifications of pathogenicity
Select item 192105	NM_014000.3(VCL):c.1607C>A (p.Pro536His)	VCL (P536H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +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 45594	NM_014000.3(VCL):c.1907A>G (p.His636Arg)	VCL (H636R)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
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)	Cardiovascular phenotype +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	GConflicting classifications of pathogenicity
Select item 45602	NM_014000.3(VCL):c.2862_2864del (p.Leu955del)	VCL (L955del)	Deletion (inframe_deletion +1 more)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 192107	NM_014000.3(VCL):c.2893C>T (p.Pro965Ser)	VCL (P965S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1W +3 more	GUncertain significance