Knowledge base for genomic medicine in Japanese
筋原線維性ミオパチー
小児・神経疾患
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)
DeletionNM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)TTNPathogenic/Likely pathogenic2179393311179393315CAAGTACcriteria provided, multiple submitters, no conflictsClinGen:CA275200
single nucleotide variantNM_001927.4(DES):c.364T>G (p.Tyr122Asp)DESLikely pathogenic2220283548220283548TGcriteria provided, single submitterClinGen:CA308313
single nucleotide variantNM_001927.4(DES):c.634C>T (p.Arg212Ter)DESPathogenic/Likely pathogenic2220284872220284872CTcriteria provided, multiple submitters, no conflictsClinGen:CA308316
single nucleotide variantNM_001927.4(DES):c.1371+1G>CDESLikely pathogenic2220290468220290468GCcriteria provided, single submitterClinGen:CA308297
single nucleotide variantNM_001927.4(DES):c.1412A>C (p.Ter471Ser)DESLikely pathogenic2220290711220290711ACcriteria provided, single submitterClinGen:CA308298
DeletionNM_004281.4(BAG3):c.1267_1276del (p.Leu423fs)BAG3Pathogenic10121436332121436341TGCTGAAAGTGTcriteria provided, multiple submitters, no conflictsClinGen:CA204624
single nucleotide variantNM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)TTNLikely pathogenic2179400115179400115GAcriteria provided, multiple submitters, no conflictsClinGen:CA309376
IndelNM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)TTNPathogenic/Likely pathogenic2179400244179400244CAGcriteria provided, multiple submitters, no conflictsClinGen:CA309461
DuplicationNM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs)TTNPathogenic/Likely pathogenic2179403370179403371AACCcriteria provided, multiple submitters, no conflictsClinGen:CA309547
single nucleotide variantNM_001267550.2(TTN):c.98989+1G>ATTNPathogenic/Likely pathogenic2179403672179403672CTcriteria provided, multiple submitters, no conflictsClinGen:CA309375