Knowledge base for genomic medicine in Japanese
不整脈原性右室心筋症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
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-
DeletionNC_000006.12:g.(?_118548061)_(118559090_?)delPLNPathogenic6118869224118880253nanacriteria provided, single submitter-
DeletionNC_000006.12:g.(?_7541896)_(7585898_?)delDSPPathogenic675421297586131nanacriteria provided, single submitter-
DeletionNC_000006.12:g.(?_7541906)_(7585888_?)delDSPPathogenic675421397586121nanacriteria provided, single submitter-