Knowledge base for genomic medicine in Japanese
シャルコー・マリー・トゥース病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
duplicationNM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)LMNAPathogenic/Likely pathogenic1156105865156105866CCATGGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005572.4(LMNA):c.1129C>T (p.Arg377Cys)LMNAPathogenic/Likely pathogenic1156105884156105884CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005572.4(LMNA):c.1146C>T (p.Gly382=)LMNAPathogenic/Likely pathogenic1156105901156105901CTcriteria provided, multiple submitters, no conflicts-
duplicationNM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs)LMNAPathogenic1156106935156106936GGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005572.4(LMNA):c.154C>G (p.Leu52Val)LMNALikely pathogenic1156084863156084863CGcriteria provided, single submitter-
single nucleotide variantNM_005572.4(LMNA):c.1621C>T (p.Arg541Cys)LMNAPathogenic/Likely pathogenic1156107457156107457CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P02545#VAR_039786
duplicationNM_005572.4(LMNA):c.348dup (p.Lys117fs)LMNAPathogenic1156085056156085057TTGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005572.4(LMNA):c.448A>C (p.Thr150Pro)LMNALikely pathogenic1156100499156100499ACcriteria provided, single submitterUniProtKB (protein):P02545#VAR_039762
single nucleotide variantNM_005572.4(LMNA):c.513+1G>CLMNALikely pathogenic1156100565156100565GCcriteria provided, single submitter-
single nucleotide variantNM_005572.4(LMNA):c.607G>A (p.Glu203Lys)LMNAPathogenic/Likely pathogenic1156104287156104287GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P02545#VAR_039767