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_004281.4(BAG3):c.258C>G (p.Tyr86Ter)BAG3Pathogenic/Likely pathogenic10121429440121429440CGcriteria provided, multiple submitters, no conflictsClinGen:CA378294739
DuplicationNM_004281.4(BAG3):c.1161dup (p.Lys388fs)BAG3Pathogenic10121436222121436223TTCcriteria provided, single submitterClinGen:CA658656095
InversionNM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)BAG3Pathogenic10121436362121436363ACGTcriteria provided, single submitterClinGen:CA658656099
single nucleotide variantNM_007078.3(LDB3):c.686G>T (p.Gly229Val)LDB3Likely pathogenic108844155788441557GTcriteria provided, single submitterClinGen:CA377455773
single nucleotide variantNM_004281.4(BAG3):c.836C>A (p.Ser279Ter)BAG3Likely pathogenic10121432095121432095CAcriteria provided, single submitterClinGen:CA214222103
DeletionNM_004281.4(BAG3):c.580del (p.Ser194fs)BAG3Likely pathogenic10121431839121431839GAGcriteria provided, single submitterClinGen:CA16618934
DuplicationNM_004281.4(BAG3):c.350dup (p.Gly118fs)BAG3Likely pathogenic10121429530121429531GGCcriteria provided, single submitterClinGen:CA16618933
DuplicationNM_004281.4(BAG3):c.206dup (p.Ser70fs)BAG3Pathogenic10121429385121429386GGCcriteria provided, multiple submitters, no conflictsClinGen:CA16618932
single nucleotide variantNM_004281.4(BAG3):c.1240G>T (p.Glu414Ter)BAG3Pathogenic10121436306121436306GTcriteria provided, single submitterClinGen:CA16613029
DuplicationNM_004281.4(BAG3):c.607dup (p.Arg203fs)BAG3Pathogenic10121431865121431866GGCcriteria provided, multiple submitters, no conflictsClinGen:CA16612935