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.554A>C (p.His185Pro)IDUALikely pathogenic4995316995316ACcriteria provided, single submitterClinGen:CA16618019
DuplicationNM_000203.5(IDUA):c.542dup (p.Asn181fs)IDUAPathogenic/Likely pathogenic4995302995303GGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.536C>G (p.Thr179Arg)IDUAPathogenic/Likely pathogenic4995298995298CGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)IDUAPathogenic4995263995263CGcriteria provided, single submitterClinGen:CA220511
single nucleotide variantNM_000203.5(IDUA):c.494-1G>AIDUAPathogenic4995255995255GAcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.494-1G>CIDUAPathogenic4995255995255GCcriteria provided, single submitterClinGen:CA275298
single nucleotide variantNM_000203.5(IDUA):c.493+1G>AIDUALikely pathogenic4994778994778GAcriteria provided, single submitter-
DuplicationNM_000203.5(IDUA):c.488dup (p.Tyr163Ter)IDUALikely pathogenic4994771994772TTAcriteria provided, single submitter-
DeletionNM_000203.5(IDUA):c.390del (p.Phe130fs)IDUALikely pathogenic4994672994672GTGcriteria provided, single submitter-
single nucleotide variantNM_000203.5(IDUA):c.386-2A>GIDUAPathogenic4994668994668AGcriteria provided, multiple submitters, no conflictsClinGen:CA356991