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.7663G>A (p.Gly2555Arg)FBN1Pathogenic/Likely pathogenic154871379148713791CTcriteria provided, multiple submitters, no conflicts-
short repeatNM_000138.4(FBN1):c.4224_4225CT[1] (p.Cys1408_Ser1409insTer)FBN1Pathogenic/Likely pathogenic154876485748764858CAGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.7410C>G (p.Cys2470Trp)FBN1Pathogenic/Likely pathogenic154871760948717609GCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.2051G>T (p.Cys684Phe)FBN1Pathogenic/Likely pathogenic154879604648796046CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.6244G>T (p.Glu2082Ter)FBN1Pathogenic/Likely pathogenic154873003448730034CAcriteria provided, multiple submitters, no conflicts-
deletionNM_000138.4(FBN1):c.441del (p.Gln147fs)FBN1Pathogenic/Likely pathogenic154889233748892337GTGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.6610T>C (p.Cys2204Arg)FBN1Pathogenic/Likely pathogenic154872679748726797AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys)FBN1Pathogenic/Likely pathogenic154879727848797278TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg)FBN1Pathogenic/Likely pathogenic154874101048741010AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.5345G>A (p.Cys1782Tyr)FBN1Pathogenic/Likely pathogenic154874891148748911CTcriteria provided, multiple submitters, no conflicts-