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.979G>C (p.Ala327Pro)IDUAPathogenic/Likely pathogenic4996063996063GCcriteria provided, multiple submitters, no conflictsClinGen:CA234128,UniProtKB:P35475#VAR_003361
single nucleotide variantNM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)IDUAPathogenic4995263995263CGcriteria provided, single submitterClinGen:CA220511
DeletionNM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)IDUAPathogenic4980907980918GCGCTCCTGGCCTGcriteria provided, multiple submitters, no conflictsClinGen:CA220509
single nucleotide variantNM_000203.5(IDUA):c.299+1G>TIDUAPathogenic/Likely pathogenic4981738981738GTcriteria provided, multiple submitters, no conflictsClinGen:CA220508
DeletionNM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)IDUAPathogenic4997871997871TCTcriteria provided, multiple submitters, no conflictsClinGen:CA220505
single nucleotide variantNM_000203.5(IDUA):c.1650+5G>AIDUAPathogenic/Likely pathogenic4997263997263GAcriteria provided, multiple submitters, no conflictsClinGen:CA220504
single nucleotide variantNM_000203.5(IDUA):c.1402+1G>CIDUAPathogenic4996733996733GCcriteria provided, single submitterClinGen:CA220502
single nucleotide variantNM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)IDUAPathogenic/Likely pathogenic4996129996129GAcriteria provided, multiple submitters, no conflictsClinGen:CA220497,UniProtKB:P35475#VAR_003362
single nucleotide variantNM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)IDUAPathogenic4996121996121TGcriteria provided, multiple submitters, no conflictsUniProtKB:P35475#VAR_017436,OMIM:252800.0020,ClinGen:CA256128
single nucleotide variantNM_000203.5(IDUA):c.1091C>T (p.Thr364Met)IDUAPathogenic4996175996175CTcriteria provided, multiple submitters, no conflictsClinGen:CA256126,OMIM:252800.0018