Knowledge base for genomic medicine in Japanese
ウィルムス腫瘍
腫瘍性疾患
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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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.6446_6447del (p.Ile2149fs)BRCA2Pathogenic133291493832914939ATTAreviewed by expert panelClinGen:CA10579695
DeletionNM_000059.4(BRCA2):c.6567_6573del (p.Asn2189fs)BRCA2Pathogenic133291505532915061AAAAACGTAreviewed by expert panelClinGen:CA10579702
DeletionNM_000059.4(BRCA2):c.6596del (p.Thr2199fs)BRCA2Pathogenic133291508832915088ACAreviewed by expert panelClinGen:CA10579704
DuplicationNM_000059.4(BRCA2):c.6699_6702dup (p.Met2235fs)BRCA2Pathogenic133291519032915191CCTTTTreviewed by expert panelClinGen:CA10579705
single nucleotide variantNM_000059.4(BRCA2):c.6781G>T (p.Glu2261Ter)BRCA2Pathogenic133291527332915273GTreviewed by expert panelClinGen:CA10579711
DuplicationNM_000059.4(BRCA2):c.6990dup (p.Thr2331fs)BRCA2Pathogenic133292101432921015AATreviewed by expert panelClinGen:CA10579717
IndelNM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs)BRCA2Pathogenic133292919932929202CAAAGGreviewed by expert panelClinGen:CA10579727
DuplicationNM_000059.4(BRCA2):c.7218dup (p.Val2407fs)BRCA2Pathogenic133292920532929206CCTreviewed by expert panelClinGen:CA10579728
DeletionNM_000059.4(BRCA2):c.7341_7342del (p.Asn2447fs)BRCA2Pathogenic133292933032929331AATAreviewed by expert panelClinGen:CA10579733
single nucleotide variantNM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)BRCA2Pathogenic133292935632929356CTreviewed by expert panelClinGen:CA10579735