Knowledge base for genomic medicine in Japanese
ホモシスチン尿症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_000071.3(CBS):c.19dup (p.Gln7fs)CBSPathogenic214449228444492285TTGcriteria provided, multiple submitters, no conflictsClinGen:CA16042010
DeletionNM_000071.3(CBS):c.28del (p.Val10fs)CBSPathogenic/Likely pathogenic214449227644492276ACAcriteria provided, multiple submitters, no conflictsClinGen:CA10603779
DeletionNM_000071.3(CBS):c.18_36del (p.Glu9fs)CBSLikely pathogenic214449226844492286TGGGCCCCACTTCTGCCTGGTcriteria provided, single submitterClinGen:CA16042009
single nucleotide variantNM_000071.3(CBS):c.146C>T (p.Pro49Leu)CBSPathogenic/Likely pathogenic214449215844492158GAcriteria provided, multiple submitters, no conflictsClinGen:CA325105,UniProtKB:P35520#VAR_008049
DeletionNM_000071.3(CBS):c.153_165del (p.Arg51fs)CBSPathogenic/Likely pathogenic214449213944492151GCTGCCAGGTGCACGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000071.3(CBS):c.209+1G>ACBSPathogenic/Likely pathogenic214449209444492094CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000071.3(CBS):c.209+1G>CCBSPathogenic/Likely pathogenic214449209444492094CGcriteria provided, multiple submitters, no conflictsClinGen:CA16042008
single nucleotide variantNM_000071.3(CBS):c.209+2T>CCBSLikely pathogenic214449209344492093AGcriteria provided, single submitter-
single nucleotide variantNM_000071.3(CBS):c.253G>A (p.Gly85Arg)CBSPathogenic214448868244488682CTcriteria provided, multiple submitters, no conflictsClinGen:CA319849,UniProtKB:P35520#VAR_008051
single nucleotide variantNM_000071.3(CBS):c.302T>C (p.Leu101Pro)CBSPathogenic/Likely pathogenic214448863344488633AGcriteria provided, multiple submitters, no conflictsClinGen:CA274473,UniProtKB:P35520#VAR_021791