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)
DeletionNC_000002.11:g.(?_219135239)_(220290732_?)delDESPathogenic2219135239220290732nanacriteria provided, single submitter-
single nucleotide variantNM_001927.4(DES):c.1412A>C (p.Ter471Ser)DESLikely pathogenic2220290711220290711ACcriteria provided, single submitterClinGen:CA308298
single nucleotide variantNM_001927.4(DES):c.1371+1G>CDESLikely pathogenic2220290468220290468GCcriteria provided, single submitterClinGen:CA308297
single nucleotide variantNM_001927.4(DES):c.1346A>C (p.Lys449Thr)DESPathogenic/Likely pathogenic2220290442220290442ACcriteria provided, multiple submitters, no conflictsUniProtKB:P17661#VAR_042461,ClinGen:CA217038
single nucleotide variantNM_001927.4(DES):c.1325C>T (p.Thr442Ile)DESPathogenic2220290421220290421CTcriteria provided, multiple submitters, no conflictsClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015
single nucleotide variantNM_001927.4(DES):c.1289-2A>GDESPathogenic/Likely pathogenic2220290383220290383AGcriteria provided, multiple submitters, no conflictsClinGen:CA144512,OMIM:125660.0018
single nucleotide variantNM_001927.4(DES):c.1285C>T (p.Arg429Ter)DESPathogenic/Likely pathogenic2220288539220288539CTcriteria provided, multiple submitters, no conflictsClinGen:CA273504
DeletionNM_001927.4(DES):c.1255_1271del (p.Pro419fs)DESPathogenic2220288506220288522TCTCCCCATCCAGACCTATcriteria provided, multiple submitters, no conflictsClinGen:CA658796176
single nucleotide variantNM_001927.4(DES):c.1255C>T (p.Pro419Ser)DESPathogenic/Likely pathogenic2220288509220288509CTcriteria provided, multiple submitters, no conflictsClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017
single nucleotide variantNM_001927.4(DES):c.1237G>T (p.Glu413Ter)DESPathogenic2220286275220286275GTcriteria provided, single submitter-