"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45573	NM_002294.3(LAMP2):c.1093+2514G>A	LAMP2 (V391I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 9982	NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)	LAMP2 (V310I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 44445	NM_002294.3(LAMP2):c.927C>T (p.Ser309=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease +4 more	GBenign/Likely benign
Select item 415504	NM_002294.3(LAMP2):c.865-8del	LAMP2	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44437	NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)	LAMP2 (I252S)	Single nucleotide variant (missense variant)	Danon disease +3 more	GBenign/Likely benign
Select item 44434	NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)	LAMP2 (G221R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44426	NM_002294.3(LAMP2):c.339C>T (p.Ser113=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1299879	NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)	LAMP2 (G70V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 44415	NM_002294.3(LAMP2):c.-4G>C	LAMP2	Single nucleotide variant (5 prime UTR variant)	Danon disease +4 more	GConflicting classifications of pathogenicity
Select item 36440	NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]	LAMP2	Microsatellite (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign