"PreventionGenetics, part of Exact Sciences"[submitter] AND "LAMP2"[ge - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 912619	NM_002294.3(LAMP2):c.*2794T>C	LAMP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 381155	NM_002294.3(LAMP2):c.1191T>C (p.Phe397=)	LAMP2	Single nucleotide variant (synonymous variant +1 more)	LAMP2-related disorder +3 more	GBenign/Likely benign
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 +5 more	GConflicting classifications of pathogenicity
Select item 180889	NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del)	LAMP2 (D373del)	Microsatellite (inframe_deletion +1 more)	LAMP2-related disorder +2 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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 138071	NM_002294.3(LAMP2):c.1093+2450G>A	LAMP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1593136	NM_002294.3(LAMP2):c.929-9del	LAMP2	Deletion (intron variant)	Danon disease +1 more	GBenign/Likely benign
Select item 44445	NM_002294.3(LAMP2):c.927C>T (p.Ser309=)	LAMP2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +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 382013	NM_002294.3(LAMP2):c.771T>C (p.Asn257=)	LAMP2	Single nucleotide variant (synonymous variant)	LAMP2-related disorder +3 more	GLikely benign
Select item 180865	NM_002294.3(LAMP2):c.742-16TCT[2]	LAMP2	Microsatellite (intron variant)	Danon disease +2 more	GBenign/Likely benign
Select item 2799200	NM_002294.3(LAMP2):c.579A>G (p.Lys193=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease +1 more	GLikely benign
Select item 180871	NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)	LAMP2 (A129T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 367788	NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys)	LAMP2 (R53C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44416	NM_002294.3(LAMP2):c.156A>T (p.Val52=)	LAMP2	Single nucleotide variant (synonymous variant)	Danon disease +3 more	GBenign/Likely benign
Select item 3046646	NM_002294.3(LAMP2):c.12C>T (p.Phe4=)	LAMP2	Single nucleotide variant (synonymous variant)	LAMP2-related disorder	GLikely benign
Select item 632873	NM_002294.3(LAMP2):c.-7C>T	LAMP2	Single nucleotide variant (5 prime UTR variant)	LAMP2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3045217	NM_002294.3(LAMP2):c.-8G>C	LAMP2	Single nucleotide variant (5 prime UTR variant)	LAMP2-related disorder	GLikely benign
Select item 36440	NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]	LAMP2	Microsatellite (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign