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.1882C>T (p.Arg628Ter)IDUAPathogenic4998101998101CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)IDUALikely pathogenic4998064998065CTGCcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.1828+1G>CIDUAPathogenic/Likely pathogenic4997901997901GCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)IDUAPathogenic/Likely pathogenic4997815997815CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.1650+2C>GIDUALikely pathogenic4997260997260CGcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.820G>T (p.Glu274Ter)IDUAPathogenic/Likely pathogenic4995797995797GTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000203.5(IDUA):c.1602del (p.Leu535fs)IDUAPathogenic/Likely pathogenic4997210997210CGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.1190-2A>TIDUALikely pathogenic4996518996518ATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.623G>A (p.Gly208Asp)IDUAPathogenic/Likely pathogenic4995500995500GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)IDUAPathogenic4995483995483CAcriteria provided, multiple submitters, no conflicts-