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)
single nucleotide variantNM_000059.4(BRCA2):c.7007+2T>GBRCA2Pathogenic/Likely pathogenic133292103532921035TGcriteria provided, multiple submitters, no conflicts-
DeletionNC_000013.11:g.(?_32326081)_(32326633_?)delBRCA2Pathogenic133290021832900770nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_32354841)_(32357949_?)delBRCA2Likely pathogenic133292897832932086nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_32315480)_(32319345_?)delBRCA2Pathogenic133288961732893482nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_32329423)_(32398790_?)delBRCA2Pathogenic133290356032972927nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_32362503)_(32398790_?)delBRCA2Pathogenic133293664032972927nanacriteria provided, single submitter-
single nucleotide variantNM_000059.4(BRCA2):c.6841+1G>ABRCA2Likely pathogenic133291533432915334GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000059.4(BRCA2):c.7008-1G>CBRCA2Pathogenic133292899732928997GCcriteria provided, single submitter-
DeletionNM_000059.4(BRCA2):c.9777del (p.Ile3259fs)BRCA2Pathogenic133297242632972426ATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)BRCA2Likely pathogenic133297243432972434CTcriteria provided, single submitter-