Knowledge base for genomic medicine in Japanese
複合カルボキシラーゼ欠損症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
IndelNM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)BTDPathogenic31567698415676990GCGGCTGTCCcriteria provided, multiple submitters, no conflictsClinGen:CA285306,OMIM:609019.0001
single nucleotide variantNM_001370658.1(BTD):c.1535C>T (p.Thr512Met)BTDPathogenic31568695815686958CTcriteria provided, multiple submitters, no conflictsClinGen:CA278009,UniProtKB:P43251#VAR_005120,OMIM:609019.0011
single nucleotide variantNM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)BTDPathogenic/Likely pathogenic31568697515686975CTcriteria provided, multiple submitters, no conflictsClinGen:CA220320,UniProtKB:P43251#VAR_005121,OMIM:609019.0003
single nucleotide variantNM_001370658.1(BTD):c.695A>G (p.Asp232Gly)BTDPathogenic31568611815686118AGcriteria provided, multiple submitters, no conflictsClinGen:CA278012,OMIM:609019.0006
single nucleotide variantNM_001370658.1(BTD):c.1308A>C (p.Gln436His)BTDPathogenic/Likely pathogenic31568673115686731ACcriteria provided, multiple submitters, no conflictsClinGen:CA285304,UniProtKB:P43251#VAR_005119,OMIM:609019.0007
single nucleotide variantNM_001370658.1(BTD):c.175C>T (p.Arg59Cys)BTDPathogenic/Likely pathogenic31567712115677121CTcriteria provided, multiple submitters, no conflictsClinGen:CA278016,OMIM:609019.0010
single nucleotide variantNM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)HLCSPathogenic/Likely pathogenic213830903538309035AGcriteria provided, multiple submitters, no conflictsClinGen:CA278018,UniProtKB:P50747#VAR_005084,OMIM:609018.0002
single nucleotide variantNM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)HLCSPathogenic213813747138137471GAcriteria provided, multiple submitters, no conflictsClinGen:CA278020,UniProtKB:P50747#VAR_013009,OMIM:609018.0004
single nucleotide variantNM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)HLCSPathogenic213813208238132082CTcriteria provided, multiple submitters, no conflictsClinGen:CA278021,UniProtKB:P50747#VAR_009200,OMIM:609018.0005
single nucleotide variantNM_001352514.2(HLCS):c.2089G>A (p.Val697Met)HLCSPathogenic213813734538137345CTcriteria provided, multiple submitters, no conflictsClinGen:CA278022,UniProtKB:P50747#VAR_009198,OMIM:609018.0006