Knowledge base for genomic medicine in Japanese
シスチノーシス
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000017.11:g.(?_3647434)_(3648941_?)delCTNSPathogenic1735507283552235nanacriteria provided, single submitter-
single nucleotide variantNM_004937.3(CTNS):c.140+1G>TCTNSPathogenic1735508173550817GTcriteria provided, single submitter-
DeletionNC_000017.11:g.(?_3647424)_(3648951_?)delCTNSPathogenic1735507183552245nanacriteria provided, single submitter-
DeletionNC_000017.11:g.(?_3657995)_(3660744_?)delCTNSPathogenic1735612893564038nanacriteria provided, single submitter-
single nucleotide variantNM_004937.3(CTNS):c.682-1G>TCTNSPathogenic/Likely pathogenic1735612983561298GTcriteria provided, multiple submitters, no conflicts-
DeletionNC_000017.11:g.(?_3636418)_(3658185_?)delCTNSPathogenic1735397123561479nanacriteria provided, single submitter-
single nucleotide variantNM_004937.3(CTNS):c.62-1G>ACTNSPathogenic1735507373550737GAcriteria provided, single submitter-