"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LAMP2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 409226	NM_002294.3(LAMP2):c.1093+2544A>G	LAMP2 (R401G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 45573	NM_002294.3(LAMP2):c.1093+2514G>A	LAMP2 (V391I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44445	NM_002294.3(LAMP2):c.927C>T (p.Ser309=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 568550	NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn)	LAMP2 (T194N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44429	NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)	LAMP2 (T158A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1693794	NM_002294.3(LAMP2):c.415G>A (p.Glu139Lys)	LAMP2 (E139K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 44416	NM_002294.3(LAMP2):c.156A>T (p.Val52=)	LAMP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
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
Select item 36440	NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]	LAMP2	Microsatellite (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 558847	NM_002294.3(LAMP2):c.-23_-16del	LAMP2	Deletion (5 prime UTR variant)	not provided	GLikely benign