Knowledge base for genomic medicine in Japanese
先天性筋無力症候群
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)CHRNDLikely pathogenic2233399853233399853GTcriteria provided, single submitterClinGen:CA16043388
single nucleotide variantNM_000751.3(CHRND):c.933-2A>GCHRNDLikely pathogenic2233396250233396250AGcriteria provided, single submitterClinGen:CA16617496
single nucleotide variantNM_000751.3(CHRND):c.866C>T (p.Ser289Phe)CHRNDLikely pathogenic2233396107233396107CTcriteria provided, single submitterClinGen:CA128062,UniProtKB:Q07001#VAR_019566,OMIM:100720.0001
DeletionNM_000751.3(CHRND):c.822del (p.Ser274fs)CHRNDLikely pathogenic2233396063233396063GTGcriteria provided, single submitterClinGen:CA16043387
single nucleotide variantNM_000751.3(CHRND):c.821-2A>CCHRNDPathogenic/Likely pathogenic2233396060233396060ACcriteria provided, multiple submitters, no conflicts-
DeletionNM_000751.3(CHRND):c.820_820+1delCHRNDPathogenic2233394849233394850CAGCcriteria provided, single submitterClinGen:CA10575541,Leiden Muscular Dystrophy (CHRND):CHRND_00013,OMIM:100720.0004
single nucleotide variantNM_000751.3(CHRND):c.769T>C (p.Cys257Arg)CHRNDPathogenic2233394798233394798TCcriteria provided, single submitterClinGen:CA66952998
DuplicationNM_000751.3(CHRND):c.521_524dup (p.Ala176fs)CHRNDPathogenic2233393582233393583TTATACcriteria provided, single submitter-
single nucleotide variantNM_000751.3(CHRND):c.234G>A (p.Trp78Ter)CHRNDPathogenic2233392146233392146GAcriteria provided, multiple submitters, no conflictsClinGen:CA128067,OMIM:100720.0005
single nucleotide variantNM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter)CHRNA1Pathogenic2175624230175624230GAcriteria provided, multiple submitters, no conflictsClinGen:CA1974690