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.4759_4760insA (p.Ser1587fs) | BRCA1 | Pathogenic | 17 | 41223171 | 41223172 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4697_4698insA (p.Gly1567fs) | BRCA1 | Pathogenic | 17 | 41223233 | 41223234 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4612_4613insG (p.Gln1538fs) | BRCA1 | Pathogenic | 17 | 41226410 | 41226411 | T | TC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4610_4611insCC (p.Gln1537fs) | BRCA1 | Pathogenic | 17 | 41226412 | 41226413 | T | TGG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4596_4597insCT (p.Asp1533fs) | BRCA1 | Pathogenic | 17 | 41226426 | 41226427 | C | CAG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4571_4572insCC (p.Gln1525fs) | BRCA1 | Pathogenic | 17 | 41226451 | 41226452 | A | AGG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4398_4399insA (p.Gln1467fs) | BRCA1 | Pathogenic | 17 | 41228590 | 41228591 | G | GT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.4394dup (p.Ser1466fs) | BRCA1 | Pathogenic | 17 | 41228594 | 41228595 | T | TA | reviewed by expert panel | ClinGen:CA645373166 |
| Insertion | NM_007294.4(BRCA1):c.4286_4287insG (p.Tyr1429Ter) | BRCA1 | Pathogenic | 17 | 41234491 | 41234492 | G | GC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4284_4285insG (p.Tyr1429fs) | BRCA1 | Pathogenic | 17 | 41234493 | 41234494 | A | AC | reviewed by expert panel | - |
Copyright © Japan Institute for Health Security. All rights reserved.