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_015702.3(MMADHC):c.154+1G>AMMADHCPathogenic/Likely pathogenic2150438640150438640CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)MMUTPathogenic/Likely pathogenic64942143449421434TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.753+1G>AMMUTPathogenic/Likely pathogenic64942540349425403CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)MMUTPathogenic/Likely pathogenic64940798649407986CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_052845.4(MMAB):c.12C>A (p.Cys4Ter)MMABPathogenic/Likely pathogenic12110011274110011274GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_052845.4(MMAB):c.454G>T (p.Glu152Ter)MMABPathogenic/Likely pathogenic12109999290109999290CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.654A>C (p.Gln218His)MMUTPathogenic/Likely pathogenic64942550349425503TGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.983T>C (p.Leu328Pro)MMUTPathogenic/Likely pathogenic64942139849421398AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1677-1G>CMMUTPathogenic/Likely pathogenic64940968549409685CGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000255.4(MMUT):c.1946del (p.Pro649fs)MMUTPathogenic/Likely pathogenic64940792949407929AGAcriteria provided, multiple submitters, no conflicts-