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_000255.4(MMUT):c.1880A>G (p.His627Arg)MMUTPathogenic/Likely pathogenic64940799549407995TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)MMUTPathogenic/Likely pathogenic64941662249416622CAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000255.4(MMUT):c.1990del (p.Ala664fs)MMUTLikely pathogenic64940330349403303GCGcriteria provided, single submitter-
DeletionNM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)MMUTPathogenic/Likely pathogenic64941939749419419ATTGCAGTACGGACAATATTATTGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)MMUTPathogenic/Likely pathogenic64940802949408029GAcriteria provided, multiple submitters, no conflicts-
InsertionNM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)MMUTPathogenic64942542749425428CCAAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000255.4(MMUT):c.671_678dup (p.Val227fs)MMUTPathogenic64942547849425479CCCATAAATTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.385+5G>AMMUTPathogenic/Likely pathogenic64942679049426790CTcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000255.4(MMUT):c.29dup (p.Leu10fs)MMUTPathogenic64942715049427151TTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)MMUTPathogenic64940962049409620GAcriteria provided, multiple submitters, no conflicts-