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.192dup (p.Pro65fs)ACADVLLikely pathogenic1771238307123831GGAreviewed by expert panel-
DeletionNM_000018.4(ACADVL):c.192del (p.Lys64fs)ACADVLLikely pathogenic1771238317123831GAGreviewed by expert panel-
single nucleotide variantNM_000018.4(ACADVL):c.139-1G>TACADVLLikely pathogenic1771237827123782GTcriteria provided, single submitter-
single nucleotide variantNM_000018.4(ACADVL):c.138+2T>CACADVLLikely pathogenic1771235187123518TCcriteria provided, multiple submitters, no conflictsClinGen:CA16041857
single nucleotide variantNM_000018.4(ACADVL):c.138+1G>AACADVLLikely pathogenic1771235177123517GAreviewed by expert panel-
DeletionNM_000018.4(ACADVL):c.103_112del (p.Pro35fs)ACADVLLikely pathogenic1771234747123483GGCCCGGCCCTGreviewed by expert panelClinGen:CA658798683
DeletionNM_000018.4(ACADVL):c.104del (p.Pro35fs)ACADVLPathogenic1771234807123480GCGreviewed by expert panelClinGen:CA624861220
single nucleotide variantNM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)ACADVLPathogenic1771234437123443CAreviewed by expert panelClinGen:CA233425
single nucleotide variantNM_000018.4(ACADVL):c.63-2A>CACADVLLikely pathogenic1771234397123439ACreviewed by expert panelClinGen:CA397722016
single nucleotide variantNM_000018.4(ACADVL):c.62+6T>CACADVLLikely pathogenic1771233717123371TCcriteria provided, single submitterClinGen:CA645372604