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.445C>T (p.Arg149Cys)ACTA2Pathogenic109070155190701551GAcriteria provided, multiple submitters, no conflictsClinGen:CA006936,UniProtKB:P62736#VAR_045918,OMIM:102620.0001
single nucleotide variantNM_001613.4(ACTA2):c.773G>A (p.Arg258His)ACTA2Pathogenic/Likely pathogenic109069929990699299CTcriteria provided, multiple submitters, no conflictsClinGen:CA007026,UniProtKB:P62736#VAR_045921,OMIM:102620.0002
single nucleotide variantNM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)ACTA2Pathogenic109069930090699300GAcriteria provided, multiple submitters, no conflictsUniProtKB:P62736#VAR_045920,OMIM:102620.0003,ClinGen:CA007017
single nucleotide variantNM_001613.4(ACTA2):c.536G>A (p.Arg179His)ACTA2Pathogenic109070106690701066CTcriteria provided, multiple submitters, no conflictsClinGen:CA006970,UniProtKB:P62736#VAR_064516,OMIM:102620.0004
single nucleotide variantNM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)RNF213Pathogenic177834182578341825GAcriteria provided, single submitterClinGen:CA130465,OMIM:613768.0003
single nucleotide variantNM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)ACTA2Pathogenic/Likely pathogenic109069943790699437CTcriteria provided, multiple submitters, no conflictsClinGen:CA006985,UniProtKB:P62736#VAR_062580
single nucleotide variantNM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)ACTA2Pathogenic/Likely pathogenic109070857390708573GAcriteria provided, multiple submitters, no conflictsClinGen:CA006817,OMIM:102620.0005
single nucleotide variantNM_001613.4(ACTA2):c.991-1G>CACTA2Likely pathogenic109069512490695124CGcriteria provided, single submitterClinGen:CA007075
single nucleotide variantNM_001613.4(ACTA2):c.446G>T (p.Arg149Leu)ACTA2Likely pathogenic109070155090701550CAcriteria provided, single submitterClinGen:CA006944
single nucleotide variantNM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)ACTA2Pathogenic/Likely pathogenic109070357090703570CTcriteria provided, multiple submitters, no conflictsClinGen:CA006909,UniProtKB:P62736#VAR_045916