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)
single nucleotide variantNM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)LMNAPathogenic1156106775156106775CTcriteria provided, multiple submitters, no conflictsClinGen:CA017258,UniProtKB:P02545#VAR_009993,OMIM:150330.0011
DeletionNM_170707.4(LMNA):c.960del (p.Arg321fs)LMNAPathogenic1156105714156105714CTCcriteria provided, single submitterClinGen:CA018901,OMIM:150330.0013
single nucleotide variantNM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)LMNAPathogenic/Likely pathogenic1156106725156106725GAcriteria provided, multiple submitters, no conflictsClinGen:CA017164,UniProtKB:P02545#VAR_009989,OMIM:150330.0015
single nucleotide variantNM_170707.4(LMNA):c.1130G>A (p.Arg377His)LMNAPathogenic1156105885156105885GAcriteria provided, multiple submitters, no conflictsClinGen:CA016651,UniProtKB:P02545#VAR_016205,OMIM:150330.0017
single nucleotide variantNM_170707.4(LMNA):c.1824C>T (p.Gly608=)LMNAPathogenic1156108404156108404CTcriteria provided, multiple submitters, no conflictsClinGen:CA015291,OMIM:150330.0022
single nucleotide variantNM_170707.4(LMNA):c.481G>A (p.Glu161Lys)LMNAPathogenic/Likely pathogenic1156100532156100532GAcriteria provided, multiple submitters, no conflictsOMIM:150330.0028,ClinGen:CA018140,UniProtKB:P02545#VAR_017660
single nucleotide variantNM_170707.4(LMNA):c.398G>C (p.Arg133Pro)LMNALikely pathogenic1156100449156100449GCcriteria provided, single submitterClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032
single nucleotide variantNM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)LMNALikely pathogenic1156104733156104733TAcriteria provided, single submitterClinGen:CA018615,OMIM:150330.0035
single nucleotide variantNM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)LMNAPathogenic1156106808156106808CTcriteria provided, single submitterClinGen:CA017298,OMIM:150330.0038
single nucleotide variantNM_170707.4(LMNA):c.745C>T (p.Arg249Trp)LMNAPathogenic/Likely pathogenic1156104701156104701CTcriteria provided, multiple submitters, no conflictsClinGen:CA018559,UniProtKB:P02545#VAR_063589,OMIM:150330.0048