"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LAMP2"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367735	NM_002294.3(LAMP2):c.*5172A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GUncertain significance
Select item 367739	NM_002294.3(LAMP2):c.*4961A>G	LAMP2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367745	NM_002294.3(LAMP2):c.*3689T>C	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease +1 more	GUncertain significance
Select item 914576	NM_002294.3(LAMP2):c.*3488C>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 914580	NM_002294.3(LAMP2):c.*3276C>T	LAMP2	Single nucleotide variant (3 prime UTR variant)	Danon disease	GUncertain significance
Select item 367754	NM_002294.3(LAMP2):c.*2538A>C	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 367768	NM_002294.3(LAMP2):c.*1632A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
Select item 914114	NM_002294.3(LAMP2):c.*1413A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GConflicting classifications of pathogenicity
Select item 914617	NM_002294.3(LAMP2):c.*1243A>G	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GBenign/Likely benign
Select item 367773	NM_002294.3(LAMP2):c.*1191A>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance
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 863312	NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)	LAMP2 (Y320N)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 429409	NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp)	LAMP2 (N257D)	Single nucleotide variant (missense variant)	Danon disease +2 more	GConflicting classifications of pathogenicity
Select item 513812	NM_002294.3(LAMP2):c.742-7_742-5del	LAMP2	Deletion (intron variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 852704	NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)	LAMP2 (T244S)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
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 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 578311	NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser)	LAMP2 (N148S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 180892	NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys)	LAMP2 (S107C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 44424	NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)	LAMP2 (A100V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 180868	NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)	LAMP2 (R25W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 392208	NM_002294.3(LAMP2):c.65-20A>T	LAMP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely 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 650063	NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu)	LAMP2 (P10L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 367790	NM_013995.2(LAMP2):c.-154T>C	LAMP2	Single nucleotide variant (5 prime UTR variant +1 more)	Danon disease +1 more	GUncertain significance

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Items: 25