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.1777G>T (p.Glu593Ter)MMUTPathogenic/Likely pathogenic64940958449409584CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.1677-1G>AMMUTPathogenic64940968549409685CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000255.4(MMUT):c.1332+1delMMUTPathogenic64941917849419178ACAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.914T>C (p.Leu305Ser)MMUTPathogenic/Likely pathogenic64942146749421467AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.754-2A>GMMUTPathogenic/Likely pathogenic64942395249423952TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.670G>T (p.Glu224Ter)MMUTPathogenic/Likely pathogenic64942548749425487CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.385+2T>CMMUTPathogenic/Likely pathogenic64942679349426793AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)MMUTLikely pathogenic64939956349399563CAcriteria provided, single submitter-
DeletionNM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)MMUTLikely pathogenic64940318749403187CTCcriteria provided, single submitter-
single nucleotide variantNM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)MMUTPathogenic/Likely pathogenic64940795149407951CGcriteria provided, multiple submitters, no conflicts-