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)
single nucleotide variantNM_000071.2(CBS):c.1006C>T (p.Arg336Cys)CBSPathogenic214448245444482454GAcriteria provided, multiple submitters, no conflictsHGMD:CM940223,UniProtKB (protein):P35520#VAR_002188
single nucleotide variantNM_000071.3(CBS):c.919G>A (p.Gly307Ser)CBSPathogenic214448309844483098CTcriteria provided, multiple submitters, no conflictsHGMD:CM930082,OMIM Allelic Variant:613381.0001,UniProtKB (protein):P35520#VAR_002186
single nucleotide variantNM_000071.2(CBS):c.434C>T (p.Pro145Leu)CBSPathogenic/Likely pathogenic214448637044486370GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:613381.0002,UniProtKB (protein):P35520#VAR_002178
single nucleotide variantNM_000071.2(CBS):c.341C>T (p.Ala114Val)CBSPathogenic/Likely pathogenic214448646344486463GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:613381.0003,UniProtKB (protein):P35520#VAR_002174
single nucleotide variantNM_000071.3(CBS):c.833T>C (p.Ile278Thr)CBSPathogenic214448318444483184AGcriteria provided, multiple submitters, no conflictsHGMD:CM920136,OMIM Allelic Variant:613381.0004,UniProtKB (protein):P35520#VAR_002184
single nucleotide variantNM_000071.2(CBS):c.430G>A (p.Glu144Lys)CBSPathogenic/Likely pathogenic214448637444486374CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:613381.0006,UniProtKB (protein):P35520#VAR_002177
single nucleotide variantNM_000071.2(CBS):c.797G>A (p.Arg266Lys)CBSPathogenic/Likely pathogenic214448404144484041CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:613381.0009,UniProtKB (protein):P35520#VAR_008074
single nucleotide variantNM_000071.2(CBS):c.1330G>A (p.Asp444Asn)CBSPathogenic/Likely pathogenic214447897244478972CTcriteria provided, multiple submitters, no conflictsHGMD:CM960249,OMIM Allelic Variant:613381.0010,UniProtKB (protein):P35520#VAR_002192
single nucleotide variantNM_000071.2(CBS):c.1224-2A>CCBSPathogenic214447908044479080TGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:613381.0012
single nucleotide variantNM_000071.2(CBS):c.1058C>T (p.Thr353Met)CBSPathogenic/Likely pathogenic214448063844480638GAcriteria provided, multiple submitters, no conflictsHGMD:CM970238,OMIM Allelic Variant:613381.0015,UniProtKB (protein):P35520#VAR_008082