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)
DeletionNM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)LMBRD1Pathogenic/Likely pathogenic67045172770451728CTGCcriteria provided, multiple submitters, no conflictsOMIM:612625.0002
single nucleotide variantNM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)MMADHCLikely pathogenic2150426603150426603AGcriteria provided, single submitterClinGen:CA114486,UniProtKB:Q9H3L0#VAR_043847,OMIM:611935.0001
single nucleotide variantNM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)MMADHCPathogenic2150426631150426631GAcriteria provided, multiple submitters, no conflictsClinGen:CA251599,OMIM:611935.0007
DuplicationNM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)MMADHCPathogenic2150433009150433010GGTcriteria provided, multiple submitters, no conflictsClinGen:CA251601,OMIM:611935.0008
single nucleotide variantNM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)MMACHCPathogenic/Likely pathogenic14597395445973954TCcriteria provided, multiple submitters, no conflictsOMIM:609831.0002,ClinGen:CA251786,UniProtKB:Q9Y4U1#VAR_024771
single nucleotide variantNM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)MMACHCPathogenic14597400145974001CTcriteria provided, multiple submitters, no conflictsClinGen:CA251787,OMIM:609831.0003
single nucleotide variantNM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)MMACHCPathogenic14597393845973938CTcriteria provided, multiple submitters, no conflictsClinGen:CA251789,OMIM:609831.0004
single nucleotide variantNM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)MMACHCPathogenic14597452045974520GAcriteria provided, multiple submitters, no conflictsClinGen:CA223191,UniProtKB:Q9Y4U1#VAR_024779,OMIM:609831.0005,ClinVar:424754
single nucleotide variantNM_000255.4(MMUT):c.52C>T (p.Gln18Ter)MMUTPathogenic/Likely pathogenic64942712849427128GAcriteria provided, multiple submitters, no conflictsClinGen:CA249725,OMIM:609058.0001
single nucleotide variantNM_000255.4(MMUT):c.313T>C (p.Trp105Arg)MMUTPathogenic/Likely pathogenic64942686749426867AGcriteria provided, multiple submitters, no conflictsClinGen:CA249727,UniProtKB:P22033#VAR_004410,OMIM:609058.0002