ClinVar Miner

List of variants in gene LAMP2 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_002294.3(LAMP2):c.374del (p.Thr125fs)
NM_002294.3(LAMP2):c.65-2A>G rs397516743
NM_002294.3(LAMP2):c.864+1G>T rs727503119
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_013995.2(LAMP2):c.579_586del (p.Lys193fs) rs398123685
NM_013995.2(LAMP2):c.64+2T>A rs730880490
NM_013995.2(LAMP2):c.65-1G>C rs730880496
NM_013995.2(LAMP2):c.651dup (p.Pro218fs) rs730880493
NM_013995.2(LAMP2):c.718C>T (p.Gln240Ter) rs1556101420
NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_013995.2(LAMP2):c.864+1G>A rs727503119
NM_013995.2(LAMP2):c.864+2T>C rs730880485
NM_013995.2(LAMP2):c.864+3_864+6del rs397516751
NM_013995.2(LAMP2):c.929-2A>G rs1556092556
NM_013995.2(LAMP2):c.974del (p.Leu325fs) rs730880498

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.