List of variants in gene LAMP2 reported as likely 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter)	rs1057517940
NM_002294.3(LAMP2):c.183+5G>A	rs730880479
NM_002294.3(LAMP2):c.184-1G>T	rs1064796635
NM_002294.3(LAMP2):c.1A>G (p.Met1Val)
NM_002294.3(LAMP2):c.659dup (p.Gly221fs)	rs1556101640
NM_002294.3(LAMP2):c.854_859del (p.Val285_Phe286del)
NM_002294.3(LAMP2):c.864+3_864+6del	rs397516751
NM_002294.3(LAMP2):c.929-2A>G	rs1556092556

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