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)
DeletionNM_004006.3(DMD):c.29del (p.Cys10fs)DMDPathogenicX3322940133229401ACAcriteria provided, single submitter-
DeletionNC_000001.11:g.(?_156114919)_(156243162_?)delLMNAPathogenic1156084710156212953nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_156134393)_(156134538_?)delLMNALikely pathogenic1156104184156104329nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_156114909)_(156115284_?)delLMNAPathogenic1156084700156085075nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_156134393)_(156139116_?)delLMNAPathogenic1156104184156108907nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_156134383)_(156134548_?)delLMNALikely pathogenic1156104174156104339nanacriteria provided, single submitter-
single nucleotide variantNM_170707.4(LMNA):c.640-2A>GLMNALikely pathogenic1156104594156104594AGcriteria provided, single submitter-
single nucleotide variantNM_170707.4(LMNA):c.357-2A>GLMNAPathogenic1156100406156100406AGcriteria provided, single submitter-
single nucleotide variantNM_170707.4(LMNA):c.811-1G>ALMNALikely pathogenic1156104977156104977GAcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.88895-1G>ATTNLikely pathogenic2179418944179418944CTcriteria provided, single submitter-