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.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 | - |
| Deletion | NM_007294.4(BRCA1):c.4266del (p.Ser1423fs) | BRCA1 | Pathogenic | 17 | 41234512 | 41234512 | TC | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4243_4244insT (p.Glu1415fs) | BRCA1 | Pathogenic | 17 | 41234534 | 41234535 | T | TA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4194_4195insGG (p.Thr1399fs) | BRCA1 | Pathogenic | 17 | 41234583 | 41234584 | T | TCC | reviewed by expert panel | - |
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