ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526
NM_000235.4(LIPA):c.111+1G>A
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

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