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.1A>T (p.Met1Leu)FBN1Pathogenic154893696648936966TAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.1A>C (p.Met1Leu)FBN1Pathogenic/Likely pathogenic154893696648936966TGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.2T>G (p.Met1Arg)FBN1Pathogenic154893696548936965ACcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.3G>A (p.Met1Ile)FBN1Pathogenic/Likely pathogenic154893696448936964CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.3G>T (p.Met1Ile)FBN1Pathogenic154893696448936964CAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.7C>T (p.Arg3Ter)FBN1Pathogenic154893696048936960GAcriteria provided, multiple submitters, no conflicts-
deletionNM_000138.4(FBN1):c.32_42delTGGGATTTACC (p.Leu11Argfs)FBN1Likely pathogenic154893692548936935CGGTAAATCCCACcriteria provided, single submitter-
deletionNM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer)FBN1Pathogenic154893691848936927AAAAGCACGGTAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.56C>T (p.Ser19Phe)FBN1Likely pathogenic154893691148936911GAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.60C>A (p.Tyr20Ter)FBN1Likely pathogenic154893690748936907GTcriteria provided, single submitter-