Knowledge base for genomic medicine in Japanese
メチルマロン酸血症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_015506.3(MMACHC):c.82-1G>AMMACHCPathogenic/Likely pathogenic14597302745973027GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_015506.3(MMACHC):c.310_313del (p.Asp104fs)MMACHCPathogenic/Likely pathogenic14597391545973918GCTGAGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)MMACHCPathogenic14597392245973922CGcriteria provided, single submitter-
single nucleotide variantNM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)MMACHCPathogenic/Likely pathogenic14597450945974509GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_015506.3(MMACHC):c.500del (p.Pro167fs)MMACHCPathogenic14597453745974537GCGcriteria provided, multiple submitters, no conflicts-
DeletionNM_015506.3(MMACHC):c.507_519del (p.Glu170fs)MMACHCPathogenic/Likely pathogenic14597454245974554GGATAGAGGTGCCAGcriteria provided, multiple submitters, no conflicts-
DuplicationNM_015506.3(MMACHC):c.567dup (p.Ile190fs)MMACHCPathogenic14597460445974605GGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)MMACHCPathogenic14597465345974653CAcriteria provided, multiple submitters, no conflicts-
DeletionNM_015506.3(MMACHC):c.384del (p.Tyr129fs)MMACHCPathogenic/Likely pathogenic14597399145973991ACAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_015506.3(MMACHC):c.497dup (p.Pro167fs)MMACHCPathogenic/Likely pathogenic14597453445974535CCTcriteria provided, multiple submitters, no conflicts-