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.1392_1393insG (p.Tyr465fs) | BRCA1 | Pathogenic | 17 | 41246155 | 41246156 | A | AC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1364_1365insGA (p.Asn455fs) | BRCA1 | Pathogenic | 17 | 41246183 | 41246184 | A | ATC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1341_1342insG (p.His448fs) | BRCA1 | Pathogenic | 17 | 41246206 | 41246207 | G | GC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.1323dup (p.Cys442fs) | BRCA1 | Pathogenic | 17 | 41246224 | 41246225 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1288_1289insC (p.Asp430fs) | BRCA1 | Pathogenic | 17 | 41246259 | 41246260 | T | TG | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.1240del (p.Asp414fs) | BRCA1 | Pathogenic | 17 | 41246308 | 41246308 | TC | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1218_1219insA (p.Ala407fs) | BRCA1 | Pathogenic | 17 | 41246329 | 41246330 | C | CT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1211_1212insCT (p.Glu404fs) | BRCA1 | Pathogenic | 17 | 41246336 | 41246337 | T | TAG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1180_1181insT (p.Gly394fs) | BRCA1 | Pathogenic | 17 | 41246367 | 41246368 | C | CA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1107_1108insCT (p.Val370fs) | BRCA1 | Pathogenic | 17 | 41246440 | 41246441 | C | CAG | reviewed by expert panel | - |
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