Knowledge base for genomic medicine in Japanese
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遺伝性乳がん・卵巣がん症候群
腫瘍性疾患
Excelでダウンロード最新の情報は下記 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。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.2617dup (p.Ser873fs) | BRCA1 | Pathogenic | 17 | 41244930 | 41244931 | G | GA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2735&base_change=ins T,ClinGen:CA001723 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter) | BRCA1 | Pathogenic | 17 | 41244907 | 41244907 | C | A | reviewed by expert panel | ClinGen:CA001732 |
| Deletion | NM_007294.4(BRCA1):c.2643del (p.Glu881fs) | BRCA1 | Pathogenic | 17 | 41244905 | 41244905 | AT | A | reviewed by expert panel | ClinGen:CA001733 |
| Deletion | NM_007294.4(BRCA1):c.2646_2648del (p.Cys882_Ala883delinsTer) | BRCA1 | Pathogenic | 17 | 41244900 | 41244902 | TGCA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2765&base_change=del TGC,ClinGen:CA001734 |
| Insertion | NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs) | BRCA1 | Pathogenic | 17 | 41244888 | 41244889 | G | GT | reviewed by expert panel | ClinGen:CA001741 |
| Duplication | NM_007294.4(BRCA1):c.2659dup (p.Ala887fs) | BRCA1 | Pathogenic | 17 | 41244888 | 41244889 | G | GC | reviewed by expert panel | ClinGen:CA327828 |
| Duplication | NM_007294.4(BRCA1):c.2665dup (p.Ser889fs) | BRCA1 | Pathogenic | 17 | 41244882 | 41244883 | G | GA | reviewed by expert panel | ClinGen:CA327829 |
| Deletion | NM_007294.4(BRCA1):c.2670del (p.Ser891fs) | BRCA1 | Pathogenic | 17 | 41244878 | 41244878 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2789&base_change=del G,ClinGen:CA001748 |
| Deletion | NM_007294.4(BRCA1):c.2671del (p.Ser891fs) | BRCA1 | Pathogenic | 17 | 41244877 | 41244877 | GA | G | reviewed by expert panel | ClinGen:CA001750 |
| Deletion | NM_007294.4(BRCA1):c.2675_2678del (p.Ser891_Leu892insTer) | BRCA1 | Pathogenic | 17 | 41244870 | 41244873 | CTTTA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2794&base_change=del TAAA,ClinGen:CA001751 |
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