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.(?_32632410)_(33038327_?)dupDMDPathogenicX3263241033038327nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32849718)_(32849830_?)delDMDPathogenicX3286783532867947nanacriteria provided, single submitter-
single nucleotide variantNM_004006.3(DMD):c.4846-1G>TDMDLikely pathogenicX3238331732383317CAcriteria provided, single submitter-
single nucleotide variantNM_004006.3(DMD):c.1705-2A>GDMDPathogenic/Likely pathogenicX3259175632591756TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004006.3(DMD):c.831+1G>CDMDPathogenicX3271722832717228CGcriteria provided, single submitter-
DeletionNM_001943.5(DSG2):c.523+1_523+2delDSG2Likely pathogenic182910120729101208CGTCcriteria provided, multiple submitters, no conflicts-
DeletionNC_000023.11:g.(?_31609621)_(31774202_?)delDMDPathogenicX3162773831792319nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31729621)_(31729758_?)delDMDPathogenicX3174773831747875nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31729621)_(31836829_?)delDMDPathogenicX3174773831854946nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_31819965)_(31820093_?)delDMDPathogenicX3183808231838210nanacriteria provided, single submitter-