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_000203.5(IDUA):c.385+1G>CIDUAPathogenic4994486994486GCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.300-1G>AIDUALikely pathogenic4994399994399GAcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.299+1G>TIDUAPathogenic/Likely pathogenic4981738981738GTcriteria provided, multiple submitters, no conflictsClinGen:CA220508
single nucleotide variantNM_000203.5(IDUA):c.266G>A (p.Arg89Gln)IDUAPathogenic4981704981704GAcriteria provided, multiple submitters, no conflictsClinGen:CA256124,UniProtKB:P35475#VAR_003354,OMIM:252800.0015
single nucleotide variantNM_000203.5(IDUA):c.265C>T (p.Arg89Trp)IDUAPathogenic/Likely pathogenic4981703981703CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.223G>A (p.Ala75Thr)IDUAPathogenic4981661981661GAcriteria provided, multiple submitters, no conflictsClinGen:CA356994,UniProtKB:P35475#VAR_003352
single nucleotide variantNM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)IDUAPathogenic4981630981630CAcriteria provided, multiple submitters, no conflictsClinGen:CA256113,OMIM:252800.0006
single nucleotide variantNM_000203.5(IDUA):c.178C>T (p.Gln60Ter)IDUAPathogenic4981616981616CTcriteria provided, single submitter-
DuplicationNM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)IDUAPathogenic4981607981608CCCACACAGCCAGGCTGACCAGTACGTCCTCAGCTGGGACCAcriteria provided, single submitter-
DeletionNM_000203.5(IDUA):c.164del (p.Pro55fs)IDUAPathogenic4981597981597GCGcriteria provided, single submitterClinGen:CA234127