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.3725G>A (p.Cys1242Tyr)FBN1Pathogenic154877612848776128CTcriteria provided, single submitterOMIM Allelic Variant:134797.0026
single nucleotide variantNM_000138.4(FBN1):c.6339T>G (p.Tyr2113Ter)FBN1Pathogenic154872955948729559ACcriteria provided, single submitterOMIM Allelic Variant:134797.0008
single nucleotide variantNM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser)FBN1Pathogenic/Likely pathogenic154872922348729223TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0009
single nucleotide variantNM_000138.4(FBN1):c.1643A>T (p.Asn548Ile)FBN1Pathogenic154880231248802312TAcriteria provided, single submitterOMIM Allelic Variant:134797.0010
single nucleotide variantNM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys)FBN1Pathogenic/Likely pathogenic154871768048717680CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0015
single nucleotide variantNM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter)FBN1Pathogenic154870347748703477GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0017
single nucleotide variantNM_000138.4(FBN1):c.364C>T (p.Arg122Cys)FBN1Pathogenic154889241448892414GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0018
single nucleotide variantNM_000138.4(FBN1):c.4087+1G>AFBN1Pathogenic154876672448766724CTcriteria provided, single submitterOMIM Allelic Variant:134797.0020
single nucleotide variantNM_000138.4(FBN1):c.3668G>A (p.Cys1223Tyr)FBN1Pathogenic154877761548777615CTcriteria provided, single submitterOMIM Allelic Variant:134797.0022
single nucleotide variantNM_000138.5(FBN1):c.6354C>T (p.Ile2118=)FBN1Pathogenic/Likely pathogenic154872954448729544GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0030