Knowledge base for genomic medicine in Japanese
網膜色素変性症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000001.10:g.216144119_216591855del447737USH2APathogenic1216144119216591855nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_216292165)_(216327664_?)delUSH2APathogenic1216465507216501006nanacriteria provided, single submitter-
DeletionNM_206933.2(USH2A):c.(?_785)_(1840_?)delUSH2APathogenic1216465517216500996nanacriteria provided, single submitter-
single nucleotide variantNM_206933.4(USH2A):c.802G>A (p.Gly268Arg)USH2APathogenic/Likely pathogenic1216500979216500979CTcriteria provided, multiple submitters, no conflictsClinGen:CA143613,UniProtKB:O75445#VAR_054557
single nucleotide variantNM_206933.4(USH2A):c.820C>G (p.Arg274Gly)USH2APathogenic1216500961216500961GCcriteria provided, multiple submitters, no conflictsClinGen:CA1396686
single nucleotide variantNM_206933.4(USH2A):c.820C>T (p.Arg274Ter)USH2APathogenic1216500961216500961GAcriteria provided, multiple submitters, no conflictsClinGen:CA262118
single nucleotide variantNM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)USH2APathogenic/Likely pathogenic1216500953216500953GCcriteria provided, multiple submitters, no conflicts-
DeletionNM_206933.4(USH2A):c.895del (p.Gln299fs)USH2APathogenic1216498895216498895TGTcriteria provided, single submitterClinGen:CA529004272
single nucleotide variantNM_206933.4(USH2A):c.908G>A (p.Arg303His)USH2APathogenic/Likely pathogenic1216498882216498882CTcriteria provided, multiple submitters, no conflictsClinGen:CA1396646
DuplicationNM_206933.4(USH2A):c.920_923dup (p.His308fs)USH2APathogenic1216498866216498867GGTGGCcriteria provided, multiple submitters, no conflictsClinGen:CA262127