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)
single nucleotide variantNM_170707.4(LMNA):c.1622G>A (p.Arg541His)LMNAPathogenic/Likely pathogenic1156107458156107458GAcriteria provided, multiple submitters, no conflictsClinGen:CA017621,UniProtKB:P02545#VAR_039787
single nucleotide variantNM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)LMNAPathogenic/Likely pathogenic1156107458156107458GCcriteria provided, multiple submitters, no conflictsClinGen:CA017630,UniProtKB:P02545#VAR_064975
single nucleotide variantNM_170707.4(LMNA):c.184C>G (p.Arg62Gly)LMNAPathogenic1156084893156084893CGcriteria provided, multiple submitters, no conflictsClinGen:CA017741,UniProtKB:P02545#VAR_039755
DuplicationNM_170707.4(LMNA):c.1961dup (p.Thr655fs)LMNAPathogenic1156108541156108541CCGcriteria provided, multiple submitters, no conflictsClinGen:CA020498
single nucleotide variantNM_170707.4(LMNA):c.244G>A (p.Glu82Lys)LMNAPathogenic1156084953156084953GAcriteria provided, multiple submitters, no conflictsClinGen:CA017794
single nucleotide variantNM_170707.4(LMNA):c.266G>T (p.Arg89Leu)LMNAPathogenic1156084975156084975GTcriteria provided, single submitterClinGen:CA017839,UniProtKB:P02545#VAR_039758
single nucleotide variantNM_170707.4(LMNA):c.274C>T (p.Leu92Phe)LMNALikely pathogenic1156084983156084983CTcriteria provided, multiple submitters, no conflictsClinGen:CA017846,UniProtKB:P02545#VAR_067257
single nucleotide variantNM_170707.4(LMNA):c.29C>T (p.Thr10Ile)LMNAPathogenic/Likely pathogenic1156084738156084738CTcriteria provided, multiple submitters, no conflictsClinGen:CA017867,UniProtKB:P02545#VAR_039745,OMIM:150330.0029
single nucleotide variantNM_170707.4(LMNA):c.357-1G>TLMNAPathogenic1156100407156100407GTcriteria provided, single submitterClinGen:CA017975
single nucleotide variantNM_170707.4(LMNA):c.412G>A (p.Glu138Lys)LMNAPathogenic1156100463156100463GAcriteria provided, single submitterClinGen:CA018066,UniProtKB:P02545#VAR_070175