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)
DeletionNM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs)FBN1Pathogenic154870325948703260ATTAcriteria provided, multiple submitters, no conflictsClinGen:CA658798330
single nucleotide variantNM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)FBN1Likely pathogenic154870327348703273GAcriteria provided, single submitterClinGen:CA392318647
DeletionNM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)FBN1Pathogenic154870327448703278GGTTAAGcriteria provided, multiple submitters, no conflictsClinGen:CA16619937
single nucleotide variantNM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)FBN1Pathogenic/Likely pathogenic154870328248703282CAcriteria provided, multiple submitters, no conflictsClinGen:CA017803
DuplicationNM_000138.5(FBN1):c.8516dup (p.Lys2840fs)FBN1Pathogenic154870328648703287CCTcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter)FBN1Pathogenic154870329148703291TAcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)FBN1Pathogenic154870331548703315GAcriteria provided, multiple submitters, no conflictsClinGen:CA10587783
single nucleotide variantNM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)FBN1Likely pathogenic154870332048703320GCcriteria provided, single submitterClinGen:CA017783
DeletionNM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)FBN1Likely pathogenic154870332848703330TTCCTcriteria provided, single submitterClinGen:CA017763
single nucleotide variantNM_000138.5(FBN1):c.8447A>C (p.His2816Pro)FBN1Likely pathogenic154870335648703356TGcriteria provided, single submitter-