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)
DuplicationNM_000018.4(ACADVL):c.1908dup (p.Ile637fs)ACADVLLikely pathogenic1771283557128356GGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)ACADVLLikely pathogenic1771282917128291CTreviewed by expert panelClinGen:CA16608642
single nucleotide variantNM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)ACADVLLikely pathogenic1771282857128285CTreviewed by expert panelClinGen:CA251903,UniProtKB:P49748#VAR_000365,OMIM:609575.0003
DeletionNM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer)ACADVLLikely pathogenic1771281397128139TCTcriteria provided, single submitterClinGen:CA16041877
DeletionNM_000018.4(ACADVL):c.1752-2delACADVLLikely pathogenic1771281267128126CACcriteria provided, single submitterClinGen:CA658798687
single nucleotide variantNM_000018.4(ACADVL):c.1751+2T>CACADVLLikely pathogenic1771280357128035TCcriteria provided, single submitter-
single nucleotide variantNM_000018.4(ACADVL):c.1751+1G>AACADVLLikely pathogenic1771280347128034GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs)ACADVLLikely pathogenic1771280107128020ATGCCATGGTGGAreviewed by expert panelClinGen:CA16043045
DuplicationNM_000018.4(ACADVL):c.1714dup (p.Ala572fs)ACADVLLikely pathogenic1771279927127993CCGcriteria provided, single submitter-
single nucleotide variantNM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)ACADVLPathogenic/Likely pathogenic1771279827127982GAcriteria provided, multiple submitters, no conflictsClinGen:CA285290