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+1G>TACADMLikely pathogenic17619842776198427GTcriteria provided, single submitterClinGen:CA16040774
DeletionNM_000016.6(ACADM):c.224del (p.Val75fs)ACADMLikely pathogenic17619854576198545GTGcriteria provided, multiple submitters, no conflictsClinGen:CA16040775
single nucleotide variantNM_000016.6(ACADM):c.387+1G>AACADMPathogenic17619931476199314GAcriteria provided, multiple submitters, no conflictsClinGen:CA16040777
single nucleotide variantNM_000016.6(ACADM):c.387+1G>TACADMLikely pathogenic17619931476199314GTcriteria provided, single submitterClinGen:CA16040778
DeletionNM_000016.6(ACADM):c.431_434del (p.Lys144fs)ACADMPathogenic17620051876200521GAAGTGcriteria provided, multiple submitters, no conflictsClinGen:CA16040779
DeletionNM_000016.6(ACADM):c.437del (p.Leu146fs)ACADMPathogenic/Likely pathogenic17620052376200523ATAcriteria provided, multiple submitters, no conflictsClinGen:CA913106
single nucleotide variantNM_000016.6(ACADM):c.599+2T>CACADMPathogenic/Likely pathogenic17620579776205797TCcriteria provided, multiple submitters, no conflictsClinGen:CA913142
single nucleotide variantNM_000016.6(ACADM):c.709-1G>AACADMPathogenic/Likely pathogenic17621510376215103GAcriteria provided, multiple submitters, no conflictsClinGen:CA16040780
single nucleotide variantNM_000016.6(ACADM):c.949C>T (p.Gln317Ter)ACADMLikely pathogenic17622681076226810CTcriteria provided, single submitterClinGen:CA16040781
single nucleotide variantNM_000016.6(ACADM):c.959C>A (p.Ser320Ter)ACADMPathogenic/Likely pathogenic17622682076226820CAcriteria provided, multiple submitters, no conflictsClinGen:CA16040783