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 conflictsClinGen:CA122802,OMIM:181031.0001
single nucleotide variantNM_000541.5(SAG):c.916G>T (p.Glu306Ter)SAGPathogenic2234243717234243717GTcriteria provided, single submitterClinGen:CA130899,OMIM:181031.0005
single nucleotide variantNM_000541.5(SAG):c.874C>T (p.Arg292Ter)SAGPathogenic2234243675234243675CTcriteria provided, multiple submitters, no conflictsClinGen:CA130897,OMIM:181031.0004
single nucleotide variantNM_000541.5(SAG):c.577C>T (p.Arg193Ter)SAGPathogenic2234237188234237188CTcriteria provided, multiple submitters, no conflictsClinGen:CA130895,OMIM:181031.0002
single nucleotide variantNM_000541.5(SAG):c.523C>T (p.Arg175Ter)SAGPathogenic2234237134234237134CTcriteria provided, single submitterClinGen:CA150740,OMIM:181031.0006
single nucleotide variantNM_000541.5(SAG):c.136+2T>GSAGPathogenic/Likely pathogenic2234224783234224783TGcriteria provided, multiple submitters, no conflictsClinGen:CA351043938
single nucleotide variantNM_206933.4(USH2A):c.43C>T (p.Gln15Ter)USH2APathogenic/Likely pathogenic1216595636216595636GAcriteria provided, multiple submitters, no conflicts-
InsertionNM_206933.4(USH2A):c.99_100insT (p.Arg34fs)USH2APathogenic1216595579216595580GGAcriteria provided, multiple submitters, no conflictsClinGen:CA37922153
single nucleotide variantNM_206933.4(USH2A):c.100C>T (p.Arg34Ter)USH2APathogenic/Likely pathogenic1216595579216595579GAcriteria provided, multiple submitters, no conflictsClinGen:CA1396855
single nucleotide variantNM_206933.4(USH2A):c.187C>T (p.Arg63Ter)USH2APathogenic1216595492216595492GAcriteria provided, multiple submitters, no conflicts-