Knowledge base for genomic medicine in Japanese
極長鎖アシルCoA脱水素酵素欠損症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000018.4(ACADVL):c.1605+2T>CACADVLLikely pathogenic1771277147127714TCreviewed by expert panel-
single nucleotide variantNM_000018.4(ACADVL):c.139-1G>TACADVLLikely pathogenic1771237827123782GTcriteria provided, single submitter-
single nucleotide variantNM_000018.4(ACADVL):c.205-2A>GACADVLLikely pathogenic1771239217123921AGcriteria provided, single submitter-
single nucleotide variantNM_000018.4(ACADVL):c.1751+2T>CACADVLLikely pathogenic1771280357128035TCcriteria provided, single submitter-
DuplicationNM_000018.4(ACADVL):c.1368dup (p.Ile457fs)ACADVLLikely pathogenic1771273217127322GGCreviewed by expert panel-
single nucleotide variantNM_000018.4(ACADVL):c.1332G>A (p.Lys444=)ACADVLLikely pathogenic1771271947127194GAcriteria provided, single submitter-
single nucleotide variantNM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)ACADVLLikely pathogenic1771271567127156GTreviewed by expert panel-
DeletionNM_000018.4(ACADVL):c.552del (p.Ile184fs)ACADVLPathogenic1771249317124931TCTreviewed by expert panel-
DuplicationNM_000018.4(ACADVL):c.307_323dup (p.Val109fs)ACADVLLikely pathogenic1771241137124114TTAAAGAGCTGGTGGAGCCreviewed by expert panel-
single nucleotide variantNM_000018.4(ACADVL):c.1751+1G>AACADVLLikely pathogenic1771280347128034GAcriteria provided, multiple submitters, no conflicts-