Knowledge base for genomic medicine in Japanese
ファブリー病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000023.11:g.(?_101403791)_(101404005_?)delGLAPathogenicX100658779100658993nanacriteria provided, single submitter-
IndelNM_000169.3(GLA):c.496_497delinsGG (p.Leu166Gly)GLAPathogenicX100656670100656671AGCCcriteria provided, single submitter-
single nucleotide variantNM_000169.3(GLA):c.520T>C (p.Cys174Arg)GLAPathogenicX100656647100656647AGcriteria provided, single submitter-
single nucleotide variantNM_000169.3(GLA):c.695T>C (p.Ile232Thr)GLAPathogenic/Likely pathogenicX100653879100653879AGcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000169.3(GLA):c.85dup (p.Ala29fs)GLAPathogenicX100662806100662807GGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000169.3(GLA):c.119C>T (p.Pro40Leu)GLAPathogenic/Likely pathogenicX100662773100662773GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000169.3(GLA):c.266T>G (p.Leu89Arg)GLALikely pathogenicX100658902100658902ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000169.3(GLA):c.307G>T (p.Glu103Ter)GLAPathogenicX100658861100658861CAcriteria provided, single submitter-
single nucleotide variantNM_000169.3(GLA):c.404C>T (p.Ala135Val)GLAPathogenicX100656763100656763GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000169.3(GLA):c.444T>G (p.Ser148Arg)GLAPathogenic/Likely pathogenicX100656723100656723ACcriteria provided, multiple submitters, no conflicts-