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)
DeletionNC_000023.11:g.(?_32287509)_(32287721_?)delDMDPathogenicX3230562632305838nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32305626)_(32509655_?)dupDMDPathogenicX3230562632509655nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32386290)_(32849840_?)delDMDPathogenicX3240440732867957nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32411732)_(32614473_?)delDMDPathogenicX3242984932632590nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_32429849)_(33038337_?)dupDMDPathogenicX3242984933038337nanacriteria provided, single submitter-
DeletionNC_000023.11:g.(?_32809473)_(32823850_?)delDMDPathogenicX3282759032841967nanacriteria provided, single submitter-
DuplicationNC_000023.10:g.(?_33032666)_(33038337_?)dupDMDPathogenicX3303266633038337nanacriteria provided, single submitter-
DeletionNM_004006.3(DMD):c.10238del (p.Ile3413fs)DMDPathogenicX3119607331196073GAGcriteria provided, single submitterClinGen:CA658658946
single nucleotide variantNM_004006.3(DMD):c.10109G>C (p.Arg3370Pro)DMDLikely pathogenicX3119690031196900CGcriteria provided, single submitterClinGen:CA412652922
DeletionNM_004006.3(DMD):c.1476del (p.Gln492fs)DMDPathogenicX3263242632632426GTGcriteria provided, single submitterClinGen:CA658658967