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.5917G>A (p.Asp1973Asn)FBN1Likely pathogenic154873757348737573CTcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.6508T>C (p.Cys2170Arg)FBN1Likely pathogenic154872689948726899AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.6617A>G (p.Asp2206Gly)FBN1Likely pathogenic154872518548725185TCcriteria provided, single submitter-
deletionNM_000138.5(FBN1):c.6634del (p.Gln2212fs)FBN1Likely pathogenic154872516848725168TGTcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.6751T>G (p.Cys2251Gly)FBN1Likely pathogenic154872298848722988ACcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.7819G>A (p.Asp2607Asn)FBN1Likely pathogenic154871288448712884CTcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.4937G>T (p.Cys1646Phe)FBN1Likely pathogenic154875777048757770CAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.7570+5G>AFBN1Pathogenic154871414448714144CTcriteria provided, single submitter-
short repeatNM_000138.4(FBN1):c.1375_1376CT[1] (p.Cys460fs)FBN1Likely pathogenic154880767448807675CAGCcriteria provided, single submitter-
duplicationNM_000138.5(FBN1):c.3187dup (p.Ser1063fs)FBN1Likely pathogenic154878058548780586GGAcriteria provided, single submitter-