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)
DeletionNM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs)FBN1Likely pathogenic154874477648744783GGAGGTGAAGcriteria provided, single submitterClinGen:CA015869
single nucleotide variantNM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)FBN1Likely pathogenic154874108448741084TCcriteria provided, single submitterClinGen:CA015886
single nucleotide variantNM_000138.5(FBN1):c.556T>C (p.Cys186Arg)FBN1Likely pathogenic154882998848829988AGcriteria provided, single submitterClinGen:CA015898
single nucleotide variantNM_000138.5(FBN1):c.5671G>C (p.Asp1891His)FBN1Likely pathogenic154874096548740965CGcriteria provided, multiple submitters, no conflictsClinGen:CA015930
single nucleotide variantNM_000138.5(FBN1):c.56C>T (p.Ser19Phe)FBN1Likely pathogenic154893691148936911GAcriteria provided, single submitterClinGen:CA015969
DuplicationNM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)FBN1Likely pathogenic154873676248736763TTGTATCCAcriteria provided, single submitterClinGen:CA281824
single nucleotide variantNM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)FBN1Likely pathogenic154872926948729269CAcriteria provided, single submitterClinGen:CA016393
single nucleotide variantNM_000138.5(FBN1):c.649T>G (p.Trp217Gly)FBN1Likely pathogenic154882989548829895ACcriteria provided, single submitterClinGen:CA016532
DuplicationNM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)FBN1Likely pathogenic154872685048726851CCCAATcriteria provided, single submitterClinGen:CA281833
DeletionNM_000138.5(FBN1):c.6704del (p.Gly2235fs)FBN1Likely pathogenic154872509848725098TCTcriteria provided, single submitterClinGen:CA016675