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)
single nucleotide variantNM_000169.3(GLA):c.290C>T (p.Ala97Val)GLAPathogenicX100658878100658878GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000169.3(GLA):c.254G>A (p.Gly85Asp)GLAPathogenic/Likely pathogenicX100658914100658914CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del)GLALikely pathogenicX100655672100655680TATAAAGAGGTcriteria provided, single submitter-
single nucleotide variantNM_000169.3(GLA):c.893A>G (p.Asn298Ser)GLALikely pathogenicX100653464100653464TCcriteria provided, single submitter-
single nucleotide variantNM_000169.3(GLA):c.132G>A (p.Trp44Ter)GLAPathogenicX100662760100662760CTcriteria provided, single submitter-
single nucleotide variantNM_000169.3(GLA):c.188G>A (p.Cys63Tyr)GLAPathogenicX100662704100662704CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000169.3(GLA):c.777del (p.Gly261fs)GLAPathogenicX100653797100653797CTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000169.3(GLA):c.896A>G (p.Asp299Gly)GLALikely pathogenicX100653461100653461TCcriteria provided, single submitter-
single nucleotide variantNM_000169.3(GLA):c.640-1G>AGLAPathogenicX100653935100653935CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000169.3(GLA):c.1077del (p.Ile359fs)GLAPathogenicX100653010100653010CACcriteria provided, multiple submitters, no conflicts-