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.1182+1G>AACADVLPathogenic/Likely pathogenic1771265577126557GAcriteria provided, multiple submitters, no conflictsOMIM:609575.0002
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.343delACADVLPathogenic1771242427124242AGAreviewed by expert panelClinGen:CA220206,OMIM:609575.0004,OMIM:609575.0005
single nucleotide variantNM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)ACADVLLikely pathogenic1771265187126518ACreviewed by expert panelClinGen:CA251906,UniProtKB:P49748#VAR_000352,OMIM:609575.0008
single nucleotide variantNM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)ACADVLLikely pathogenic1771273267127326TCreviewed by expert panelClinGen:CA251907,UniProtKB:P49748#VAR_010103,OMIM:609575.0012
single nucleotide variantNM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)ACADVLLikely pathogenic1771270267127026GAreviewed by expert panelClinGen:CA251908,OMIM:609575.0013
single nucleotide variantNM_000018.4(ACADVL):c.1349G>A (p.Arg450His)ACADVLLikely pathogenic1771273037127303GAreviewed by expert panelClinGen:CA251910,UniProtKB:P49748#VAR_000355,OMIM:609575.0010,OMIM:609575.0014
single nucleotide variantNM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)ACADVLPathogenic1771271847127184GAreviewed by expert panelClinGen:CA220193,UniProtKB:P49748#VAR_000354,OMIM:609575.0009
single nucleotide variantNM_000018.4(ACADVL):c.1679-6G>AACADVLLikely pathogenic1771279557127955GAreviewed by expert panelClinGen:CA312281
single nucleotide variantNM_000018.4(ACADVL):c.779C>T (p.Thr260Met)ACADVLPathogenic/Likely pathogenic1771255227125522CTcriteria provided, multiple submitters, no conflictsClinGen:CA341526,UniProtKB:P49748#VAR_000339