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)
DuplicationNM_004006.3(DMD):c.238dup (p.Ala80fs)DMDPathogenicX3286292532862926GGCcriteria provided, single submitterClinGen:CA16616537
DeletionNC_000023.11:g.(?_31119228)_(33211556_?)delDMDPathogenicX3113734533229673nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31260955)_(31261016_?)delDMDPathogenicX3127907231279133nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31478106)_(31932227_?)delDMDPathogenicX3149622331950344nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31627673)_(31658144_?)delDMDLikely pathogenicX3164579031676261nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31729631)_(31729748_?)delDMDPathogenicX3174774831747865nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32287529)_(32310276_?)delDMDPathogenicX3230564632328393nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32644132)_(32849820_?)delDMDPathogenicX3266224932867937nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32827610)_(33229673_?)dupDMDLikely pathogenicX3282761033229673nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32834585)_(32862977_?)dupDMDLikely pathogenicX3283458532862977nanacriteria provided, single submitter-