Knowledge base for genomic medicine in Japanese
ハーラー症候群
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)IDUAPathogenic4996113996113CAcriteria provided, single submitterClinGen:CA356984
single nucleotide variantNM_000203.5(IDUA):c.653T>C (p.Leu218Pro)IDUAPathogenic4995530995530TCcriteria provided, multiple submitters, no conflictsClinGen:CA356986,UniProtKB:P35475#VAR_003358
single nucleotide variantNM_000203.5(IDUA):c.590-7G>AIDUAPathogenic4995460995460GAcriteria provided, multiple submitters, no conflictsClinGen:CA356990,OMIM:252800.0004
single nucleotide variantNM_000203.5(IDUA):c.386-2A>GIDUAPathogenic4994668994668AGcriteria provided, multiple submitters, no conflictsClinGen:CA356991
single nucleotide variantNM_000203.5(IDUA):c.972+1G>AIDUAPathogenic4995950995950GAcriteria provided, single submitterClinGen:CA275387
single nucleotide variantNM_000203.5(IDUA):c.494-1G>CIDUAPathogenic4995255995255GCcriteria provided, single submitterClinGen:CA275298
single nucleotide variantNM_000203.5(IDUA):c.1529C>G (p.Pro510Arg)IDUALikely pathogenic4997137997137CGcriteria provided, single submitterClinGen:CA274951
single nucleotide variantNM_000203.5(IDUA):c.152G>A (p.Gly51Asp)IDUAPathogenic4981024981024GAcriteria provided, multiple submitters, no conflictsClinGen:CA274902,UniProtKB:P35475#VAR_003351
DeletionNM_000203.5(IDUA):c.1614del (p.His539fs)IDUAPathogenic4997222997222TGTcriteria provided, multiple submitters, no conflictsClinGen:CA234129,OMIM:252800.0009
DeletionNM_000203.5(IDUA):c.164del (p.Pro55fs)IDUAPathogenic4981597981597GCGcriteria provided, single submitterClinGen:CA234127