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_000541.5(SAG):c.926del (p.Asn309fs)SAGPathogenic2234243725234243725CACcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:181031.0001
single nucleotide variantNM_000541.5(SAG):c.577C>T (p.Arg193Ter)SAGPathogenic2234237188234237188CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:181031.0002
single nucleotide variantNM_000541.5(SAG):c.398C>T (p.Ser133Leu)SAGLikely pathogenic2234231614234231614CTcriteria provided, single submitter-
single nucleotide variantNM_000541.5(SAG):c.136+2T>GSAGPathogenic/Likely pathogenic2234224783234224783TGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.3(USH2A):c.43C>T (p.Gln15Ter)USH2ALikely pathogenic1216595636216595636GAcriteria provided, single submitter-
insertionNM_206933.3(USH2A):c.99_100insT (p.Arg34fs)USH2APathogenic1216595579216595580GGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.3(USH2A):c.100C>T (p.Arg34Ter)USH2APathogenic1216595579216595579GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_206933.3(USH2A):c.187C>T (p.Arg63Ter)USH2APathogenic1216595492216595492GAcriteria provided, multiple submitters, no conflicts-
duplicationNM_206933.3(USH2A):c.236_239dup (p.Gln81fs)USH2APathogenic1216595439216595440GGGTACcriteria provided, single submitter-
deletionNM_007123.5(USH2A):c.302del (p.Phe101fs)USH2ALikely pathogenic1216595377216595377GAGcriteria provided, single submitter-