Knowledge base for genomic medicine in Japanese
ウィルムス腫瘍
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_005612.5(REST):c.2413del (p.Leu805fs)RESTLikely pathogenic45779743457797434TCTcriteria provided, single submitterClinGen:CA645372752,OMIM:600571.0006
single nucleotide variantNM_005612.5(REST):c.2227G>T (p.Glu743Ter)RESTPathogenic45779725157797251GTcriteria provided, single submitter-
single nucleotide variantNM_005612.5(REST):c.1310T>A (p.Leu437Ter)RESTLikely pathogenic45779633457796334TAcriteria provided, single submitterClinGen:CA357006327,OMIM:600571.0005
DeletionNM_005612.5(REST):c.831_832del (p.Cys278fs)RESTPathogenic45777763557777636CATCcriteria provided, single submitterClinGen:CA351626,OMIM:600571.0001
DuplicationNM_005612.5(REST):c.265dup (p.Glu89fs)RESTPathogenic45777706857777069AAGcriteria provided, single submitter-
DeletionNC_000013.11:g.(?_32362503)_(32398790_?)delBRCA2Pathogenic133293664032972927nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_32329423)_(32398790_?)delBRCA2Pathogenic133290356032972927nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_32370936)_(32398790_?)delBRCA2Pathogenic133294507332972927nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_32315480)_(32398790_?)delBRCA2Pathogenic133288961732972927nanacriteria provided, single submitter-
DeletionNG_012772.3:g.(?_5001)_(88292_?)delBRCA2Pathogenic133288961732972908nanacriteria provided, single submitter-