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.8010C>G (p.Tyr2670Ter)FBN1Pathogenic154870777448707774GCcriteria provided, single submitterClinGen:CA017517
single nucleotide variantNM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)FBN1Pathogenic/Likely pathogenic154870774648707746GAcriteria provided, multiple submitters, no conflictsClinGen:CA017529
DeletionNM_000138.5(FBN1):c.8064del (p.Gly2689fs)FBN1Pathogenic154870492848704928CACcriteria provided, single submitterClinGen:CA017533
DuplicationNM_000138.5(FBN1):c.8154dup (p.Lys2719Ter)FBN1Pathogenic154870483748704838TTAcriteria provided, single submitterClinGen:CA304355
single nucleotide variantNM_000138.5(FBN1):c.8226+5G>AFBN1Pathogenic/Likely pathogenic154870476148704761CTcriteria provided, multiple submitters, no conflictsClinGen:CA017638
DeletionNM_000138.5(FBN1):c.8544del (p.Lys2848fs)FBN1Pathogenic154870325948703259ATAcriteria provided, multiple submitters, no conflictsClinGen:CA017809
single nucleotide variantNM_000138.5(FBN1):c.1A>G (p.Met1Val)FBN1Pathogenic154893696648936966TCcriteria provided, multiple submitters, no conflictsClinGen:CA012702
single nucleotide variantNM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)FBN1Pathogenic/Likely pathogenic154880842248808422GAcriteria provided, multiple submitters, no conflictsClinGen:CA012048
single nucleotide variantNM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)FBN1Pathogenic154880232248802322GAcriteria provided, multiple submitters, no conflictsClinGen:CA012342
single nucleotide variantNM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)FBN1Pathogenic154878064248780642CTcriteria provided, single submitterClinGen:CA013806