Knowledge base for genomic medicine in Japanese
メチルマロン酸血症
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)MMUTPathogenic64941546249415462ATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)MMUTPathogenic64941655349416553GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1083+1G>AMMUTLikely pathogenic64942129749421297CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.970G>A (p.Ala324Thr)MMUTPathogenic/Likely pathogenic64942141149421411CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.850G>T (p.Gly284Ter)MMUTPathogenic64942385449423854CAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000255.4(MMUT):c.360dup (p.Lys121Ter)MMUTPathogenic64942681949426820TTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.257C>T (p.Pro86Leu)MMUTPathogenic/Likely pathogenic64942692349426923GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)MMUTPathogenic64940333049403331CGACcriteria provided, single submitter-
DeletionNM_000255.4(MMUT):c.1946del (p.Pro649fs)MMUTPathogenic/Likely pathogenic64940792949407929AGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1677-1G>CMMUTPathogenic/Likely pathogenic64940968549409685CGcriteria provided, multiple submitters, no conflicts-