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)
deletionNM_000138.4(FBN1):c.8605_8606del (p.Leu2869fs)FBN1Likely pathogenic154870319748703198CAACcriteria provided, single submitter-
single nucleotide variantNM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)FBN1Likely pathogenic154870320348703203TGcriteria provided, single submitter-
deletionNM_000138.4(FBN1):c.8561del (p.Leu2854fs)FBN1Likely pathogenic154870324248703242GAGcriteria provided, single submitter-
deletionNM_000138.4(FBN1):c.8544del (p.Lys2848fs)FBN1Pathogenic154870325948703259ATAcriteria provided, single submitter-
deletionNM_000138.4(FBN1):c.8543_8544del (p.Lys2848fs)FBN1Pathogenic154870325948703260ATTAcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.8530C>T (p.Gln2844Ter)FBN1Likely pathogenic154870327348703273GAcriteria provided, single submitter-
deletionNM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)FBN1Pathogenic154870327448703278GGTTAAGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter)FBN1Pathogenic/Likely pathogenic154870328248703282CAcriteria provided, multiple submitters, no conflicts-
short repeatNM_000138.4(FBN1):c.8516_8519AGAA[1] (p.Lys2840fs)FBN1Pathogenic154870328048703283GTTCTGcriteria provided, single submitter-
single nucleotide variantNM_000138.4(FBN1):c.8512A>T (p.Lys2838Ter)FBN1Pathogenic154870329148703291TAcriteria provided, single submitter-