Knowledge base for genomic medicine in Japanese
血管型エーラス・ダンロス症候群
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000090.4(COL3A1):c.4175T>G (p.Leu1392Arg)COL3A1Likely pathogenic2189875537189875537TGcriteria provided, single submitterClinGen:CA349849556
single nucleotide variantNM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu)COL3A1Likely pathogenic2189868808189868808GAcriteria provided, single submitterClinGen:CA349844094
DeletionNM_000090.4(COL3A1):c.608del (p.Pro203fs)COL3A1Pathogenic2189853337189853337ACAcriteria provided, single submitterClinGen:CA658657183
single nucleotide variantNM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu)COL3A1Likely pathogenic2189859800189859800GAcriteria provided, single submitterClinGen:CA349852021
single nucleotide variantNM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)COL3A1Likely pathogenic2189871080189871080GAcriteria provided, multiple submitters, no conflictsClinGen:CA349845022
single nucleotide variantNM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)COL3A1Pathogenic/Likely pathogenic2189872843189872843GAcriteria provided, multiple submitters, no conflictsClinGen:CA349846513
single nucleotide variantNM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp)COL3A1Likely pathogenic2189873705189873705GAcriteria provided, single submitterClinGen:CA349846675
single nucleotide variantNM_000090.4(COL3A1):c.619G>T (p.Gly207Trp)COL3A1Pathogenic2189853352189853352GTcriteria provided, single submitterClinGen:CA349848382
single nucleotide variantNM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu)COL3A1Pathogenic2189871171189871171GAcriteria provided, single submitterClinGen:CA349845199
single nucleotide variantNM_000090.4(COL3A1):c.584G>T (p.Gly195Val)COL3A1Likely pathogenic2189853317189853317GTcriteria provided, single submitterClinGen:CA349848315