Knowledge base for genomic medicine in Japanese
筋原線維性ミオパチー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001458.4(FLNC):c.4969C>T (p.Arg1657Ter)FLNCPathogenic/Likely pathogenic7128489402128489402CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001458.4(FLNC):c.4021C>T (p.Arg1341Ter)FLNCPathogenic/Likely pathogenic7128486411128486411CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.106531+1G>ATTNPathogenic/Likely pathogenic2179394686179394686CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)TTNPathogenic/Likely pathogenic2179395919179395919GCcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.73568del (p.Pro24523fs)TTNPathogenic/Likely pathogenic2179437291179437291TGTcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.58568del (p.Gly19523fs)TTNPathogenic/Likely pathogenic2179458459179458459ACAcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.47961del (p.Gly15988fs)TTNPathogenic/Likely pathogenic2179481655179481655CTCcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)TTNPathogenic/Likely pathogenic2179392275179392275GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004281.4(BAG3):c.77G>A (p.Trp26Ter)BAG3Pathogenic/Likely pathogenic10121411264121411264GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004281.3(BAG3):c.258C>G (p.Tyr86Ter)BAG3Pathogenic/Likely pathogenic10121429440121429440CGcriteria provided, multiple submitters, no conflicts-