Knowledge base for genomic medicine in Japanese
ハーラー症候群
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)IDUAPathogenic4998179998179TGcriteria provided, single submitterClinGen:CA256121,OMIM:252800.0013
single nucleotide variantNM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter)IDUALikely pathogenic4998133998133CAcriteria provided, single submitterClinGen:CA91172399
single nucleotide variantNM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)IDUAPathogenic4998117998117CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)IDUAPathogenic/Likely pathogenic4998117998117CGcriteria provided, multiple submitters, no conflictsClinGen:CA10605410
DeletionNM_000203.5(IDUA):c.1897del (p.Ser633fs)IDUALikely pathogenic4998116998116CTCcriteria provided, multiple submitters, no conflicts-
DeletionNM_000203.5(IDUA):c.1893del (p.Phe632fs)IDUALikely pathogenic4998109998109GCGcriteria provided, multiple submitters, no conflictsClinGen:CA658683377
DeletionNM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)IDUALikely pathogenic4998083998107AGCCCTGGACTACTGGGCCCGACCAGAcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)IDUAPathogenic4998101998101CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000203.5(IDUA):c.1867del (p.Leu623fs)IDUALikely pathogenic4998084998084GCGcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)IDUAPathogenic4998080998080CTcriteria provided, multiple submitters, no conflictsClinGen:CA256118,OMIM:252800.0010