Knowledge base for genomic medicine in Japanese
マルファン症候群
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)FBN1Pathogenic/Likely pathogenic154875777048757770CTcriteria provided, multiple submitters, no conflictsClinGen:CA015476
single nucleotide variantNM_000138.5(FBN1):c.493C>T (p.Arg165Ter)FBN1Pathogenic/Likely pathogenic154888852548888525GAcriteria provided, multiple submitters, no conflictsClinGen:CA015483
single nucleotide variantNM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)FBN1Pathogenic/Likely pathogenic154875776548757765CTcriteria provided, multiple submitters, no conflictsClinGen:CA015500
single nucleotide variantNM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)FBN1Pathogenic/Likely pathogenic154874486748744867GAcriteria provided, multiple submitters, no conflictsClinGen:CA015808
single nucleotide variantNM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)FBN1Pathogenic/Likely pathogenic154874480048744800CTcriteria provided, multiple submitters, no conflictsClinGen:CA015839
single nucleotide variantNM_000138.5(FBN1):c.5788+5G>AFBN1Pathogenic/Likely pathogenic154873889848738898CTcriteria provided, multiple submitters, no conflictsClinGen:CA016065,OMIM:134797.0039
single nucleotide variantNM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)FBN1Pathogenic/Likely pathogenic154873765048737650CTcriteria provided, multiple submitters, no conflictsClinGen:CA016110
single nucleotide variantNM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)FBN1Pathogenic/Likely pathogenic154873396248733962CTcriteria provided, multiple submitters, no conflictsClinGen:CA016237
single nucleotide variantNM_000138.5(FBN1):c.6379+1G>AFBN1Pathogenic/Likely pathogenic154872951848729518CTcriteria provided, multiple submitters, no conflictsClinGen:CA016380
single nucleotide variantNM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)FBN1Pathogenic/Likely pathogenic154872514448725144GAcriteria provided, multiple submitters, no conflictsClinGen:CA016623