Knowledge base for genomic medicine in Japanese
エーラス・ダンロス症候群 (血管型)
循環器・内分泌疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000090.3(COL3A1):c.583G>A (p.Gly195Arg)COL3A1Likely pathogenic2189853316189853316GAcriteria provided, single submitter-
single nucleotide variantNM_000090.3(COL3A1):c.800G>T (p.Gly267Val)COL3A1Pathogenic2189855731189855731GTcriteria provided, single submitterUniProtKB (protein):P02461#VAR_011112
single nucleotide variantNM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del)COL3A1Pathogenic2189863446189863446TCcriteria provided, single submitter-
single nucleotide variantNM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu)COL3A1Likely pathogenic2189872834189872834GAcriteria provided, single submitterUniProtKB (protein):P02461#VAR_011155
single nucleotide variantNM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg)COL3A1Likely pathogenic2189868983189868983GAcriteria provided, single submitter-
single nucleotide variantNM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala)COL3A1Likely pathogenic2189864066189864066GCcriteria provided, single submitter-
single nucleotide variantNM_000090.3(COL3A1):c.3417+1G>A (p.Gly1122_Arg1139del+)COL3A1Pathogenic2189872665189872665GAcriteria provided, single submitter-
deletionNM_000090.3(COL3A1):c.555del (p.Gly186fs)COL3A1Pathogenic2189852833189852833CTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter)COL3A1Pathogenic2189870962189870962CTcriteria provided, single submitter-
single nucleotide variantNM_000090.3(COL3A1):c.898G>C (p.Gly300Arg)COL3A1Likely pathogenic2189856395189856395GCcriteria provided, single submitter-