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。
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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.1845_1846insG (p.Ser616fs) | BRCA1 | Pathogenic | 17 | 41245702 | 41245703 | A | AC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1726_1727insG (p.Lys576fs) | BRCA1 | Pathogenic | 17 | 41245821 | 41245822 | T | TC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1685_1686insGAAAG (p.Ile562fs) | BRCA1 | Pathogenic | 17 | 41245862 | 41245863 | A | ACTTTC | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.1670_1673del (p.Thr557fs) | BRCA1 | Pathogenic | 17 | 41245875 | 41245878 | TTTTG | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1652_1653insC (p.Gly552fs) | BRCA1 | Pathogenic | 17 | 41245895 | 41245896 | A | AG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1566_1567insC (p.Ala524fs) | BRCA1 | Pathogenic | 17 | 41245981 | 41245982 | A | AG | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.1521_1531del (p.Thr509fs) | BRCA1 | Pathogenic | 17 | 41246017 | 41246027 | CCTGATGTAGGT | C | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1514_1515insT (p.Lys505fs) | BRCA1 | Pathogenic | 17 | 41246033 | 41246034 | T | TA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1441_1442insA (p.Leu481fs) | BRCA1 | Pathogenic | 17 | 41246106 | 41246107 | A | AT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.1395dup (p.Arg466fs) | BRCA1 | Pathogenic | 17 | 41246152 | 41246153 | G | GA | reviewed by expert panel | - |
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