Knowledge base for genomic medicine in Japanese
家族性胸部大動脈瘤・解離
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)TGFBR2Likely pathogenic33072997430729974GTcriteria provided, single submitter-
single nucleotide variantNM_002474.3(MYH11):c.4578+1G>TMYH11Likely pathogenic161581527815815278CAcriteria provided, single submitterOMIM Allelic Variant:160745.0001
single nucleotide variantNM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)ACTA2Pathogenic/Likely pathogenic109070857390708573GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:102620.0005
single nucleotide variantNM_006258.4(PRKG1):c.575G>A (p.Arg192Gln)PRKG1Pathogenic105322757953227579GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:176894.0001,UniProtKB (protein):Q13976#VAR_070434
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-