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.1585C>T (p.Arg529Ter)FBN1Pathogenic154880574948805749GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0033
single nucleotide variantNM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys)FBN1Pathogenic154878043048780430CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0038
single nucleotide variantNM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys)FBN1Pathogenic154878949548789495TCcriteria provided, single submitterOMIM Allelic Variant:134797.0041
single nucleotide variantNM_000138.5(FBN1):c.718C>T (p.Arg240Cys)FBN1Pathogenic/Likely pathogenic154882982648829826GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0042
single nucleotide variantNM_000138.4(FBN1):c.3095G>A (p.Cys1032Tyr)FBN1Pathogenic154878067848780678CTcriteria provided, single submitterOMIM Allelic Variant:134797.0043
single nucleotide variantNM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser)FBN1Pathogenic/Likely pathogenic154875245548752455CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0056
single nucleotide variantNM_000138.4(FBN1):c.5099A>G (p.Tyr1700Cys)FBN1Pathogenic154875540448755404TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0060
deletionNM_000138.4(FBN1):c.1211del (p.Pro404fs)FBN1Pathogenic/Likely pathogenic154880849648808496TGTcriteria provided, multiple submitters, no conflicts-
duplicationNM_000138.4(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)FBN1Likely pathogenic154880227748802278CCCGCATTACAcriteria provided, single submitter-
deletionNM_000138.4(FBN1):c.1709del (p.Cys570fs)FBN1Likely pathogenic154880224648802246ACAcriteria provided, single submitter-