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_000169.2(GLA):c.548-2A>GGLAPathogenicX100655747100655747TCcriteria provided, single submitterHGMD:CS111306
single nucleotide variantNM_001199973.2(RPL36A-HNRNPH2):c.300+5300C>AGLAPathogenicX100655745100655745CAcriteria provided, single submitterHGMD:CM088051
insertionNM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter)GLAPathogenic/Likely pathogenicX100653067100653068CCTcriteria provided, multiple submitters, no conflicts-
short repeatNM_001199973.2(RPL36A-HNRNPH2):c.300+2608GA[2]GLAPathogenicX100653053100653054TGATcriteria provided, multiple submitters, no conflictsHGMD:CD962018
single nucleotide variantNM_001199973.2(RPL36A-HNRNPH2):c.301-4151G>CGLALikely pathogenicX100662773100662773GCcriteria provided, single submitter-
single nucleotide variantNM_000169.2(GLA):c.125T>C (p.Met42Thr)GLAPathogenicX100662767100662767AGcriteria provided, multiple submitters, no conflictsHGMD:CM023783,UniProtKB (protein):P06280#VAR_077372
single nucleotide variantNM_001199973.2(RPL36A-HNRNPH2):c.301-4169T>AGLAPathogenicX100662755100662755TAcriteria provided, single submitterHGMD:CM128115
single nucleotide variantNM_001199973.2(RPL36A-HNRNPH2):c.301-4178C>GGLALikely pathogenicX100662746100662746CGcriteria provided, single submitterHGMD:CM012954,UniProtKB (protein):P06280#VAR_012370
single nucleotide variantNM_000169.2(GLA):c.195-1G>CGLAPathogenicX100658974100658974CGcriteria provided, single submitter-
single nucleotide variantNM_001199973.2(RPL36A-HNRNPH2):c.301-4051C>AGLAPathogenicX100662873100662873CAcriteria provided, single submitterHGMD:CM088054