Related gene-specific medical variations for Gene (Select 3920) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359586	NM_002294.3(LAMP2):c.1141G>T (p.Val381Leu)	LAMP2 (V381L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3244116	NC_000023.10:g.(?_119581751)_(119583728_?)del	LAMP2	Deletion	Danon disease	GLikely pathogenic
Select item 3244105	NC_000023.10:g.(?_119565178)_(119575769_?)dup	LAMP2	Duplication	Danon disease	GUncertain significance
Select item 3244083	NC_000023.10:g.(?_119575565)_(119576537_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 3244072	NC_000023.10:g.(?_119576434)_(119603024_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 3244061	NC_000023.10:g.(?_119580140)_(119580302_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 3244050	NC_000023.10:g.(?_119565178)_(119603024_?)del	LAMP2	Deletion	Danon disease	GPathogenic
Select item 2689360	NM_002294.3(LAMP2):c.937A>C (p.Ile313Leu)	LAMP2 (I313L)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 2582650	NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)	LAMP2 (P199S)	Single nucleotide variant (missense variant)	Danon disease	GUncertain significance
Select item 1676396	NM_001122606.1(LAMP2):c.1094-549AT[11]	LAMP2	Microsatellite	not provided	GLikely benign
Select item 1676381	NM_013995.2(LAMP2):c.344C>A (p.Ser115Ter)	LAMP2 (S115*)	Single nucleotide variant	not provided	GPathogenic
Select item 1319204	NM_002294.3(LAMP2):c.1093+3593C>T	LAMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 996776	NM_002294.3(LAMP2):c.487del (p.Asp163fs)	LAMP2 (D163fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 930936	NM_002294.3(LAMP2):c.64+16C>T	LAMP2	Single nucleotide variant (intron variant)	Danon disease	GUncertain significance
Select item 636442	NM_002294.3(LAMP2):c.834del (p.Ile279fs)	LAMP2 (I279fs)	Deletion (frameshift variant)	not provided	GLikely 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 444824	NM_002294.3(LAMP2):c.1A>T (p.Met1Leu)	LAMP2 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic