Knowledge base for genomic medicine in Japanese
筋原線維性ミオパチー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
duplicationNM_001267550.2(TTN):c.56732dup (p.Asp18911fs)TTNLikely pathogenic2179463704179463705AATcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.57215del (p.Gly19072fs)TTNLikely pathogenic2179462682179462682TCTcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)TTNPathogenic/Likely pathogenic2179462478179462478GAcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.57995del (p.His19332fs)TTNLikely pathogenic2179459226179459226GTGcriteria provided, single submitter-
deletionNM_001267550.2(TTN):c.59205del (p.Glu19735fs)TTNPathogenic/Likely pathogenic2179457641179457641ACAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)TTNPathogenic/Likely pathogenic2179454576179454576GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)TTNPathogenic2179446377179446377GTcriteria provided, single submitter-
duplicationNM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs)TTNLikely pathogenic2179441509179441510GGTTCTcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)TTNPathogenic/Likely pathogenic2179439257179439257GAcriteria provided, multiple submitters, no conflicts-
deletionNM_001267550.2(TTN):c.73845del (p.Glu24615fs)TTNLikely pathogenic2179437014179437014GTGcriteria provided, multiple submitters, no conflicts-