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)
DeletionNC_000005.10:g.(?_70951921)_(70952011_?)delSMN1Pathogenic57024774870247838nanacriteria provided, single submitter-
single nucleotide variantNM_000344.4(SMN1):c.683T>A (p.Leu228Ter)SMN1Pathogenic57024054070240540TAcriteria provided, single submitterClinGen:CA16044072
DuplicationNM_000344.4(SMN1):c.135dup (p.Ala46fs)SMN1Likely pathogenic57023471670234717TTAcriteria provided, single submitterClinGen:CA658657451
DuplicationNM_000344.4(SMN1):c.93_96dup (p.Ile33Ter)SMN1Pathogenic/Likely pathogenic57023467570234676TTCTGAcriteria provided, multiple submitters, no conflictsClinGen:CA658657450
DeletionNC_000005.10:g.70946066_70946176delSMN1Pathogenic57024189270242002AGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATAcriteria provided, single submitterClinGen:CA645372410
single nucleotide variantNM_000344.4(SMN1):c.346A>T (p.Ile116Phe)SMN1Pathogenic57023825770238257ATcriteria provided, single submitterClinGen:CA254696,UniProtKB:Q16637#VAR_034807,OMIM:600354.0017
single nucleotide variantNM_000344.4(SMN1):c.332C>G (p.Ala111Gly)SMN1Pathogenic57023824370238243CGcriteria provided, single submitterClinGen:CA254692,UniProtKB:Q16637#VAR_034806,OMIM:600354.0015
single nucleotide variantNM_000344.4(SMN1):c.283G>C (p.Gly95Arg)SMN1Pathogenic57023819470238194GCcriteria provided, single submitterClinGen:CA254690,UniProtKB:Q16637#VAR_034805,OMIM:600354.0014
single nucleotide variantNM_000344.4(SMN1):c.305G>A (p.Trp102Ter)SMN1Pathogenic57023821670238216GAcriteria provided, single submitterClinGen:CA254685,OMIM:600354.0010
single nucleotide variantNM_000344.4(SMN1):c.5C>G (p.Ala2Gly)SMN1Pathogenic57022093570220935CGcriteria provided, multiple submitters, no conflictsClinGen:CA254681,UniProtKB:Q16637#VAR_005615,OMIM:600354.0006