ClinVar Miner

List of variants reported as likely pathogenic for Lysosomal acid lipase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526
NM_000235.4(LIPA):c.111+2T>G rs1554869292
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180
NM_000235.4(LIPA):c.428+1G>A rs1554866004
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086
NM_000235.4(LIPA):c.676-2A>G rs747508159
NM_000235.4(LIPA):c.822+1G>A rs1204744283
NM_000235.4(LIPA):c.883C>T (p.His295Tyr) rs1554865214
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter) rs1554865206
NM_000235.4(LIPA):c.894+2T>C rs1554865199
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000235.4(LIPA):c.894G>C (p.Gln298His) rs116928232
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter) rs1554864404

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.