Knowledge base for genomic medicine in Japanese
マルファン症候群
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000138.4(FBN1):c.1710T>A (p.Cys570Ter)FBN1Likely pathogenic154880224548802245ATcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)FBN1Pathogenic/Likely pathogenic154879723448797234GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)FBN1Pathogenic154879604248796042GCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.2057C>A (p.Ala686Asp)FBN1Likely pathogenic154879604048796040GTcriteria provided, single submitter-
deletionNM_000138.4(FBN1):c.2186del (p.Leu729fs)FBN1Likely pathogenic154878957048789570TATcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.2369G>C (p.Cys790Ser)FBN1Likely pathogenic154878834748788347CGcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.2433C>A (p.Cys811Ter)FBN1Pathogenic154878777248787772GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.2479T>C (p.Ser827Pro)FBN1Likely pathogenic154878772648787726AGcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.2542A>C (p.Thr848Pro)FBN1Likely pathogenic154878745548787455TGcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.266G>C (p.Cys89Ser)FBN1Likely pathogenic154890300548903005CGcriteria provided, single submitter-