Knowledge base for genomic medicine in Japanese
特発性拡張型心筋症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNC_000023.10:g.(?_32472769)_(32536267_?)dupDMDLikely pathogenicX3247276932536267nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32517988)_(32518151_?)delDMDPathogenicX3253610532536268nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32595737)_(32595896_?)delDMDPathogenicX3261385432614013nanacriteria provided, single submitter-
single nucleotide variantNM_004006.3(DMD):c.9563+2T>ADMDPathogenicX3122761331227613ATcriteria provided, single submitter-