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.1A>C (p.Met1Leu)IDUAPathogenic4980873980873ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.2T>C (p.Met1Thr)IDUAPathogenic4980874980874TCcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.3G>A (p.Met1Ile)IDUALikely pathogenic4980875980875GAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)IDUAPathogenic4980907980918GCGCTCCTGGCCTGcriteria provided, multiple submitters, no conflictsClinGen:CA220509
IndelNM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)IDUALikely pathogenic4980932980933GCAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.152G>A (p.Gly51Asp)IDUAPathogenic4981024981024GAcriteria provided, multiple submitters, no conflictsClinGen:CA274902,UniProtKB:P35475#VAR_003351
single nucleotide variantNM_000203.5(IDUA):c.158+1G>AIDUAPathogenic4981031981031GAcriteria provided, multiple submitters, no conflictsClinGen:CA355945713
single nucleotide variantNM_000203.5(IDUA):c.159-1G>AIDUALikely pathogenic4981596981596GAcriteria provided, single submitter-
DeletionNM_000203.5(IDUA):c.164del (p.Pro55fs)IDUAPathogenic4981597981597GCGcriteria provided, single submitterClinGen:CA234127
DuplicationNM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)IDUAPathogenic4981607981608CCCACACAGCCAGGCTGACCAGTACGTCCTCAGCTGGGACCAcriteria provided, single submitter-