Knowledge base for genomic medicine in Japanese
ウィルムス腫瘍
腫瘍性疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000059.4(BRCA2):c.7676_7677del (p.Ser2559fs)BRCA2Pathogenic133293193632931937GTCGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000059.4(BRCA2):c.7745_7751del (p.Ala2582fs)BRCA2Pathogenic133293200332932009TTGGCTGATcriteria provided, single submitter-
DuplicationNM_000059.4(BRCA2):c.7816dup (p.Asp2606fs)BRCA2Pathogenic133293666932936670TTGcriteria provided, single submitter-
DeletionNM_000059.4(BRCA2):c.8403del (p.Pro2802fs)BRCA2Pathogenic133294460732944607CTCcriteria provided, single submitter-
DeletionNM_000059.4(BRCA2):c.8729_8738del (p.Asn2910fs)BRCA2Pathogenic133295090032950909AAGAATGCAGCAcriteria provided, single submitter-
DuplicationNM_000059.4(BRCA2):c.8805_8806dup (p.Leu2936fs)BRCA2Pathogenic133295350232953503AATGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs)BRCA2Pathogenic/Likely pathogenic133295363732953640AAAAGAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000059.4(BRCA2):c.8967_8973del (p.Trp2990fs)BRCA2Pathogenic133295389932953905ATTTGGCGAcriteria provided, single submitter-
DeletionNM_000059.4(BRCA2):c.9444del (p.Ser3149fs)BRCA2Pathogenic133296901332969013CTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter)BRCA2Pathogenic133297231732972317GTcriteria provided, single submitter-