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)
single nucleotide variantNM_004006.3(DMD):c.9563+2T>ADMDPathogenicX3122761331227613ATcriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32595737)_(32595896_?)delDMDPathogenicX3261385432614013nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32517988)_(32518151_?)delDMDPathogenicX3253610532536268nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32472769)_(32536267_?)dupDMDLikely pathogenicX3247276932536267nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32438231)_(32849830_?)delDMDPathogenicX3245634832867947nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32310072)_(32454842_?)delDMDPathogenicX3232818932472959nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32310062)_(32651077_?)delDMDPathogenicX3232817932669194nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32305636)_(32584008_?)dupDMDLikely pathogenicX3230563632584008nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32216906)_(32217073_?)delDMDPathogenicX3223502332235190nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32235013)_(32519979_?)dupDMDLikely pathogenicX3223501332519979nanacriteria provided, single submitter-