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)
deletionNM_206933.3(USH2A):c.5158del (p.Phe1719_Leu1720insTer)USH2APathogenic1216258049216258049AGAcriteria provided, single submitter-
single nucleotide variantNM_206933.3(USH2A):c.5329C>T (p.Arg1777Trp)USH2APathogenic1216251674216251674GAcriteria provided, single submitter-
single nucleotide variantNM_206933.3(USH2A):c.5764C>T (p.Gln1922Ter)USH2APathogenic1216246451216246451GAcriteria provided, single submitter-
single nucleotide variantNM_206933.3(USH2A):c.8584C>T (p.Gln2862Ter)USH2APathogenic1216051197216051197GAcriteria provided, single submitter-
single nucleotide variantNM_206933.3(USH2A):c.9676C>T (p.Arg3226Ter)USH2APathogenic1215987141215987141GAcriteria provided, single submitter-
deletionNM_206933.3(USH2A):c.10318del (p.Ile3440fs)USH2APathogenic1215960081215960081ATAcriteria provided, single submitter-
deletionNM_206933.3(USH2A):c.12794del (p.Gly4265fs)USH2APathogenic1215848459215848459ACAcriteria provided, single submitter-
single nucleotide variantNM_206933.3(USH2A):c.12854G>A (p.Trp4285Ter)USH2APathogenic1215848399215848399CTcriteria provided, single submitter-
deletionNM_206933.3(USH2A):c.15403del (p.Thr5135fs)USH2APathogenic1215802272215802272GTGcriteria provided, single submitter-
single nucleotide variantNM_206933.3(USH2A):c.1228G>T (p.Glu410Ter)USH2APathogenic1216497610216497610CAcriteria provided, single submitter-