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)
DuplicationNM_172250.3(MMAA):c.812_813dup (p.Leu272fs)MMAALikely pathogenic4146572290146572291TTGAcriteria provided, single submitter-
single nucleotide variantNM_172250.3(MMAA):c.952C>T (p.Gln318Ter)MMAALikely pathogenic4146575278146575278CTcriteria provided, single submitter-
single nucleotide variantNM_172250.3(MMAA):c.124C>T (p.Gln42Ter)MMAAPathogenic/Likely pathogenic4146560415146560415CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_172250.3(MMAA):c.206del (p.Thr69fs)MMAALikely pathogenic4146560497146560497ACAcriteria provided, single submitter-
DeletionNM_172250.3(MMAA):c.411_414del (p.Asn137fs)MMAAPathogenic/Likely pathogenic4146560699146560702CAAATCcriteria provided, multiple submitters, no conflicts-
DuplicationNM_172250.3(MMAA):c.551dup (p.Cys184fs)MMAAPathogenic4146563625146563626TTGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_172250.3(MMAA):c.562+1G>TMMAALikely pathogenic4146563638146563638GTcriteria provided, single submitter-
single nucleotide variantNM_172250.3(MMAA):c.970-2A>TMMAAPathogenic4146576297146576297ATcriteria provided, single submitter-
single nucleotide variantNM_000255.4(MMUT):c.1957-2A>GMMUTPathogenic64940333849403338TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)MMUTLikely pathogenic64940800849408008CGcriteria provided, single submitter-