Knowledge base for genomic medicine in Japanese
中鎖アシル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_000016.6(ACADM):c.216+2T>GACADMPathogenic17619842876198428TGcriteria provided, multiple submitters, no conflictsClinGen:CA220175
single nucleotide variantNM_000016.6(ACADM):c.233T>C (p.Ile78Thr)ACADMPathogenic17619855476198554TCcriteria provided, multiple submitters, no conflictsClinGen:CA275237,UniProtKB:P11310#VAR_015954
single nucleotide variantNM_000016.6(ACADM):c.253G>A (p.Gly85Ser)ACADMLikely pathogenic17619857476198574GAcriteria provided, single submitterClinGen:CA220176
single nucleotide variantNM_000016.6(ACADM):c.616C>T (p.Arg206Cys)ACADMPathogenic/Likely pathogenic17621150776211507CTcriteria provided, multiple submitters, no conflictsClinGen:CA275410
single nucleotide variantNM_000016.6(ACADM):c.617G>A (p.Arg206His)ACADMPathogenic/Likely pathogenic17621150876211508GAcriteria provided, multiple submitters, no conflictsClinGen:CA220183
DuplicationNM_000016.6(ACADM):c.244dup (p.Trp82fs)ACADMPathogenic17619856476198565CCTcriteria provided, multiple submitters, no conflictsClinGen:CA274151
DeletionNM_000016.6(ACADM):c.449_452del (p.Thr150fs)ACADMPathogenic17620053476200537ATGACAcriteria provided, multiple submitters, no conflictsClinGen:CA274299,OMIM:607008.0016
single nucleotide variantNM_000016.6(ACADM):c.850-2A>GACADMLikely pathogenic17621613476216134AGcriteria provided, single submitterClinGen:CA273906
single nucleotide variantNM_000016.6(ACADM):c.977T>C (p.Met326Thr)ACADMPathogenic/Likely pathogenic17622683876226838TCcriteria provided, multiple submitters, no conflictsClinGen:CA274268,UniProtKB:P11310#VAR_000324
single nucleotide variantNM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)ACADMPathogenic/Likely pathogenic17622690676226906CTcriteria provided, multiple submitters, no conflictsClinGen:CA274261