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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180882	NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)	LAMP2 (V381A)	Single nucleotide variant (genic downstream transcript variant +2 more)	Danon disease +4 more	GConflicting classifications of pathogenicity
Select item 1146767	NM_002294.3(LAMP2):c.1083G>A (p.Lys361=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 626562	NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys)	LAMP2 (Y320C)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 626563	NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser)	LAMP2 (N257S)	Single nucleotide variant (missense variant)	Danon disease +1 more	GUncertain significance
Select item 44437	NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)	LAMP2 (I252S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 2442805	NM_002294.3(LAMP2):c.747T>C (p.Ala249=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 626564	NM_002294.3(LAMP2):c.723G>A (p.Leu241=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 44434	NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)	LAMP2 (G221R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 44432	NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)	LAMP2 (T196S)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 415501	NM_002294.3(LAMP2):c.519A>G (p.Val173=)	LAMP2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 626852	NM_002294.3(LAMP2):c.397+6C>G	LAMP2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 180871	NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)	LAMP2 (A129T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1329244	NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg)	LAMP2 (P127R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 44426	NM_002294.3(LAMP2):c.339C>T (p.Ser113=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 2442806	NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)	LAMP2 (A105T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 179562	NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)	LAMP2 (G93R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 180869	NM_002294.3(LAMP2):c.183+5G>A	LAMP2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1329242	NM_002294.3(LAMP2):c.107C>G (p.Ser36Ter)	LAMP2 (S36*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GPathogenic
Select item 1329245	NM_002294.3(LAMP2):c.98_101del (p.Asn32_Leu33insTer)	LAMP2	Deletion (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 379524	NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln)	LAMP2 (R25Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1329243	NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu)	LAMP2 (R5L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2626685	NM_002294.3(LAMP2):c.9C>T (p.Cys3=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 138074	NM_002294.3(LAMP2):c.-10C>T	LAMP2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 23