Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
家族性膵がん
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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.190_211del (p.Cys64fs) | BRCA1 | Pathogenic | 17 | 41258474 | 41258495 | CTTTTGGTTATATCATTCTTACA | C | reviewed by expert panel | ClinGen:CA10590030 |
| Duplication | NM_007294.4(BRCA1):c.202dup (p.Ile68fs) | BRCA1 | Pathogenic | 17 | 41258482 | 41258483 | A | AT | reviewed by expert panel | ClinGen:CA10590031 |
| Insertion | NM_007294.4(BRCA1):c.182_183insGCGC (p.Cys61fs) | BRCA1 | Pathogenic | 17 | 41258502 | 41258503 | A | AGCGC | reviewed by expert panel | ClinGen:CA10590032 |
| Duplication | NM_007294.4(BRCA1):c.179dup (p.Cys61fs) | BRCA1 | Pathogenic | 17 | 41258505 | 41258506 | C | CT | reviewed by expert panel | ClinGen:CA10590033 |
| single nucleotide variant | NM_007294.4(BRCA1):c.176C>A (p.Ser59Ter) | BRCA1 | Pathogenic | 17 | 41258509 | 41258509 | G | T | reviewed by expert panel | ClinGen:CA10590034 |
| Duplication | NM_007294.4(BRCA1):c.171dup (p.Pro58fs) | BRCA1 | Pathogenic | 17 | 41258513 | 41258514 | G | GC | reviewed by expert panel | ClinGen:CA10590035 |
| Insertion | NM_007294.4(BRCA1):c.140_141insT (p.Met48fs) | BRCA1 | Pathogenic | 17 | 41258544 | 41258545 | G | GA | reviewed by expert panel | ClinGen:CA10590036 |
| Deletion | NM_007294.4(BRCA1):c.101_105del (p.Pro34fs) | BRCA1 | Pathogenic | 17 | 41267772 | 41267776 | AGACAG | A | reviewed by expert panel | ClinGen:CA10590037 |
| Deletion | NM_007294.4(BRCA1):c.98_105del (p.Glu33fs) | BRCA1 | Pathogenic | 17 | 41267772 | 41267779 | AGACAGGTT | A | reviewed by expert panel | ClinGen:CA10590038 |
| Deletion | NM_007294.4(BRCA1):c.102del (p.Val35fs) | BRCA1 | Pathogenic | 17 | 41267775 | 41267775 | CA | C | reviewed by expert panel | ClinGen:CA10590039 |
Copyright © Japan Institute for Health Security. All rights reserved.