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.1728-1G>AIDUAPathogenic4997799997799GAcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.1403-1G>TIDUAPathogenic/Likely pathogenic4996823996823GTcriteria provided, multiple submitters, no conflicts-
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-
single nucleotide variantNM_000203.5(IDUA):c.2T>C (p.Met1Thr)IDUAPathogenic4980874980874TCcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)IDUAPathogenic4996877996877GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.1727+1G>AIDUAPathogenic/Likely pathogenic4997414997414GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)IDUAPathogenic/Likely pathogenic4996129996129GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.793G>C (p.Gly265Arg)IDUAPathogenic/Likely pathogenic4995770995770GCcriteria provided, multiple submitters, no conflicts-
DeletionNM_000203.5(IDUA):c.390del (p.Phe130fs)IDUALikely pathogenic4994672994672GTGcriteria provided, single submitter-