C0878677[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180396	NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met)	LAMP2 (I379M)	Single nucleotide variant (missense variant +1 more)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 180397	NM_002294.3(LAMP2):c.929-5T>C	LAMP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 180874	NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter)	LAMP2 (C265*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 636563	NM_002294.3(LAMP2):c.556+13T>A	LAMP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 228356	NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter)	LAMP2 (W98*)	Single nucleotide variant (nonsense)	Danon disease +1 more	GPathogenic
Select item 163820	NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)	LAMP2 (G11V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar