"Blueprint Genetics"[submitter] AND "LAMP2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	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)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 222685	NM_002294.3(LAMP2):c.1135A>G (p.Ile379Val)	LAMP2 (I379V)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
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 636442	NM_002294.3(LAMP2):c.834del (p.Ile279fs)	LAMP2 (I279fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 636417	NM_002294.3(LAMP2):c.669T>G (p.Tyr223Ter)	LAMP2 (Y223*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 636563	NM_002294.3(LAMP2):c.556+13T>A	LAMP2	Single nucleotide variant (intron variant)	Danon disease +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