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.2855-1G>CFBN1Likely pathogenic154878227648782276CGcriteria provided, multiple submitters, no conflictsClinGen:CA013455
single nucleotide variantNM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)FBN1Likely pathogenic154877938348779383CAcriteria provided, single submitterClinGen:CA014194
single nucleotide variantNM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)FBN1Likely pathogenic154876649748766497ACcriteria provided, single submitterClinGen:CA014826
single nucleotide variantNM_000138.5(FBN1):c.454A>T (p.Ser152Cys)FBN1Likely pathogenic154888856448888564TAcriteria provided, single submitterClinGen:CA015186
single nucleotide variantNM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)FBN1Likely pathogenic154876019848760198ATcriteria provided, single submitterClinGen:CA015315
DeletionNM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs)FBN1Likely pathogenic154874477648744783GGAGGTGAAGcriteria provided, single submitterClinGen:CA015869
single nucleotide variantNM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)FBN1Likely pathogenic154874108448741084TCcriteria provided, single submitterClinGen:CA015886
single nucleotide variantNM_000138.5(FBN1):c.556T>C (p.Cys186Arg)FBN1Likely pathogenic154882998848829988AGcriteria provided, single submitterClinGen:CA015898
single nucleotide variantNM_000138.5(FBN1):c.5671G>C (p.Asp1891His)FBN1Likely pathogenic154874096548740965CGcriteria provided, multiple submitters, no conflictsClinGen:CA015930
single nucleotide variantNM_000138.5(FBN1):c.56C>T (p.Ser19Phe)FBN1Likely pathogenic154893691148936911GAcriteria provided, single submitterClinGen:CA015969