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)
single nucleotide variantNM_000344.4(SMN1):c.77G>A (p.Gly26Asp)SMN1Likely pathogenic57022100770221007GAcriteria provided, single submitter-
DeletionNM_000344.4(SMN1):c.510_511del (p.Ser170fs)SMN1Pathogenic57023857970238580AGTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000344.4(SMN1):c.570G>A (p.Trp190Ter)SMN1Pathogenic57023864070238640GAcriteria provided, single submitter-
DeletionNM_000344.4(SMN1):c.584del (p.Pro195fs)SMN1Pathogenic/Likely pathogenic57023865270238652TCTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000344.4(SMN1):c.796T>C (p.Ser266Pro)SMN1Likely pathogenic57024196570241965TCcriteria provided, single submitter-
single nucleotide variantNM_000344.4(SMN1):c.824G>A (p.Gly275Asp)SMN1Likely pathogenic57024199370241993GAcriteria provided, single submitter-
DeletionNM_000344.3(SMN1):c.274_284del11SMN1Pathogenic57023818470238194AGTGGAAAGTTGAcriteria provided, single submitter-
single nucleotide variantNM_000344.4(SMN1):c.724-2A>GSMN1Pathogenic57024189170241891AGcriteria provided, single submitter-
DeletionNM_002180.3(IGHMBP2):c.121del (p.Gln41fs)IGHMBP2Pathogenic116867357068673570TCTcriteria provided, single submitter-
single nucleotide variantNM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)IGHMBP2Pathogenic116867361368673613CTcriteria provided, single submitter-