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.8268G>A (p.Trp2756Ter)FBN1Pathogenic154870353548703535CTcriteria provided, single submitterClinGen:CA017671,OMIM:134797.0004
single nucleotide variantNM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser)FBN1Likely pathogenic154877610748776107CGcriteria provided, single submitterClinGen:CA014509,OMIM:134797.0005
single nucleotide variantNM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)FBN1Pathogenic154877612848776128CTcriteria provided, multiple submitters, no conflictsClinGen:CA014498,OMIM:134797.0026
single nucleotide variantNM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)FBN1Pathogenic154872955948729559ACcriteria provided, multiple submitters, no conflictsClinGen:CA016342,OMIM:134797.0008
single nucleotide variantNM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)FBN1Pathogenic/Likely pathogenic154872922348729223TCcriteria provided, multiple submitters, no conflictsClinGen:CA016451,OMIM:134797.0009
single nucleotide variantNM_000138.5(FBN1):c.1643A>T (p.Asn548Ile)FBN1Pathogenic154880231248802312TAcriteria provided, single submitterClinGen:CA012380,OMIM:134797.0010
single nucleotide variantNM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)FBN1Likely pathogenic154878958848789588TGcriteria provided, multiple submitters, no conflictsClinGen:CA012833,OMIM:134797.0011
single nucleotide variantNM_000138.5(FBN1):c.6739+1G>CFBN1Likely pathogenic154872506248725062CGcriteria provided, single submitterClinGen:CA392333153,OMIM:134797.0014
single nucleotide variantNM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)FBN1Pathogenic/Likely pathogenic154871768048717680CTcriteria provided, multiple submitters, no conflictsClinGen:CA017155,OMIM:134797.0015
single nucleotide variantNM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)FBN1Pathogenic/Likely pathogenic154870347748703477GAcriteria provided, multiple submitters, no conflictsClinGen:CA017692,OMIM:134797.0017