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_001927.4(DES):c.1237G>T (p.Glu413Ter)DESPathogenic2220286275220286275GTcriteria provided, single submitter-
single nucleotide variantNM_001458.5(FLNC):c.554G>A (p.Trp185Ter)FLNCPathogenic7128475581128475581GAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs)FLNCPathogenic7128481269128481270AACAAGGGGGATGGCTCCTGCGATGTGcriteria provided, single submitter-
single nucleotide variantNM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter)FLNCPathogenic7128488763128488763CTcriteria provided, single submitter-
DeletionNM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs)FLNCPathogenic7128491512128491515GGTCTGcriteria provided, single submitter-
DuplicationNM_001458.5(FLNC):c.5904dup (p.Ile1969fs)FLNCPathogenic7128492705128492706AAGcriteria provided, single submitter-
DuplicationNM_001458.5(FLNC):c.6242dup (p.Ser2082fs)FLNCPathogenic7128493553128493554GGCcriteria provided, single submitter-
single nucleotide variantNM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)FLNCPathogenic7128494622128494622CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)FLNCPathogenic7128496685128496685CAcriteria provided, single submitter-
single nucleotide variantNM_004281.4(BAG3):c.514C>T (p.Gln172Ter)BAG3Pathogenic10121431773121431773CTcriteria provided, single submitter-