Knowledge base for genomic medicine in Japanese
もやもや病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001613.4(ACTA2):c.116G>A (p.Arg39His)ACTA2Pathogenic/Likely pathogenic109070857290708572CTcriteria provided, multiple submitters, no conflictsUniProtKB:P62736#VAR_062577,ClinGen:CA006825
single nucleotide variantNM_001613.4(ACTA2):c.115C>G (p.Arg39Gly)ACTA2Pathogenic/Likely pathogenic109070857390708573GCcriteria provided, multiple submitters, no conflictsClinGen:CA006808
single nucleotide variantNM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)ACTA2Pathogenic109070106790701067GAcriteria provided, multiple submitters, no conflictsClinGen:CA10588483,OMIM:102620.0008
single nucleotide variantNM_001130682.3(GUCY1A1):c.1909C>T (p.Arg637Ter)GUCY1A1Likely pathogenic4156651219156651219CTcriteria provided, single submitterClinGen:CA16042480
single nucleotide variantNM_001613.4(ACTA2):c.137T>G (p.Met46Arg)ACTA2Likely pathogenic109070713690707136ACcriteria provided, single submitterClinGen:CA377513550
single nucleotide variantNM_001613.4(ACTA2):c.146T>C (p.Met49Thr)ACTA2Likely pathogenic109070712790707127AGcriteria provided, multiple submitters, no conflictsClinGen:CA377513533
single nucleotide variantNM_001613.4(ACTA2):c.46T>C (p.Ser16Pro)ACTA2Likely pathogenic109070864290708642AGcriteria provided, single submitterClinGen:CA377513755
single nucleotide variantNM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)RNF213Likely pathogenic177834633678346336AGcriteria provided, single submitter-
DeletionNM_001613.4(ACTA2):c.991-1delACTA2Likely pathogenic109069512490695124TCTcriteria provided, single submitter-
single nucleotide variantNM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)RNF213Likely pathogenic177834184778341847GTcriteria provided, single submitter-