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.7363T>C (p.Cys2455Arg)FBN1Likely pathogenic154871765648717656AGcriteria provided, single submitterClinGen:CA10587794
single nucleotide variantNM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr)FBN1Pathogenic/Likely pathogenic154871765548717655CTcriteria provided, multiple submitters, no conflictsClinGen:CA392327954
single nucleotide variantNM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp)FBN1Likely pathogenic154871765448717654GCcriteria provided, single submitterClinGen:CA392327946
DuplicationNM_000138.5(FBN1):c.7371dup (p.Ile2458fs)FBN1Pathogenic154871764748717648TTAcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe)FBN1Likely pathogenic154871764348717643CAcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)FBN1Likely pathogenic154871764348717643CTcriteria provided, multiple submitters, no conflictsClinGen:CA392327896
single nucleotide variantNM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)FBN1Pathogenic/Likely pathogenic154871763248717632CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter)FBN1Pathogenic154871762148717621GCcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter)FBN1Pathogenic154871762148717621GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter)FBN1Pathogenic154871762048717620GAcriteria provided, multiple submitters, no conflicts-