Knowledge base for genomic medicine in Japanese
脊髄性筋萎縮症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000344.4(SMN1):c.835-21_*3+17delSMN1Pathogenic57024774770247838ACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATTAcriteria provided, single submitter-
DeletionNC_000005.10:g.(?_70951921)_(70952011_?)delSMN1Pathogenic57024774870247838nanacriteria provided, single submitter-
DeletionNC_000005.10:g.(?_70951931)_(70952001_?)delSMN1Pathogenic57024775870247828nanacriteria provided, single submitter-
DeletionNC_000005.10:g.(?_70951941)_(70951991_?)delSMN1Pathogenic57024776870247818nanacriteria provided, single submitter-
DuplicationNM_000344.4(SMN1):c.855dup (p.Glu286fs)SMN1Likely pathogenic57024778370247784CCAcriteria provided, single submitterClinGen:CA658683392
single nucleotide variantNM_000344.4(SMN1):c.835-1G>ASMN1Pathogenic57024776770247767GAcriteria provided, single submitter-
single nucleotide variantNM_000344.4(SMN1):c.835-2A>TSMN1Likely pathogenic57024776670247766ATcriteria provided, single submitter-
single nucleotide variantNM_000344.4(SMN1):c.835-2A>GSMN1Pathogenic/Likely pathogenic57024776670247766AGcriteria provided, multiple submitters, no conflicts-
DeletionNC_000005.10:g.70946066_70946176delSMN1Pathogenic57024189270242002AGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATAcriteria provided, single submitterClinGen:CA645372410
single nucleotide variantNM_000344.4(SMN1):c.824G>A (p.Gly275Asp)SMN1Likely pathogenic57024199370241993GAcriteria provided, single submitter-