List of variants in gene LAMP2 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_002294.3(LAMP2):c.1093+1G>A	rs727504742
NM_002294.3(LAMP2):c.181del (p.Tyr61fs)	rs2147287579
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter)	rs397516740
NM_002294.3(LAMP2):c.584_588dup (p.Val197fs)	rs730880492
NM_002294.3(LAMP2):c.64+2T>A	rs730880490
NM_002294.3(LAMP2):c.65-1G>C	rs730880496
NM_002294.3(LAMP2):c.651dup (p.Pro218fs)	rs730880493
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter)	rs1556101420
NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter)	rs730880483
NM_002294.3(LAMP2):c.864+1G>A	rs727503119
NM_002294.3(LAMP2):c.864+1G>T	rs727503119
NM_002294.3(LAMP2):c.864+2T>C	rs730880485
NM_002294.3(LAMP2):c.864+3_864+6del	rs397516751
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter)	rs727503118
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)	rs104894858
NM_002294.3(LAMP2):c.974del (p.Leu325fs)	rs730880498
NM_013995.2(LAMP2):c.344C>A (p.Ser115Ter)	rs950725039

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