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.1102_1103insC (p.Glu368fs) | BRCA1 | Pathogenic | 17 | 41246445 | 41246446 | T | TG | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.1085dup (p.Asn363fs) | BRCA1 | Pathogenic | 17 | 41246462 | 41246463 | C | CT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1081_1082insA (p.Ser361fs) | BRCA1 | Pathogenic | 17 | 41246466 | 41246467 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1045_1046insTCAC (p.Glu349fs) | BRCA1 | Pathogenic | 17 | 41246502 | 41246503 | T | TGTGA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1018_1019insA (p.Val340fs) | BRCA1 | Pathogenic | 17 | 41246529 | 41246530 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1017_1018insC (p.Val340fs) | BRCA1 | Pathogenic | 17 | 41246530 | 41246531 | C | CG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.985_986insC (p.Asn329fs) | BRCA1 | Pathogenic | 17 | 41246562 | 41246563 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.955_956insGT (p.Asn319fs) | BRCA1 | Pathogenic | 17 | 41246592 | 41246593 | T | TAC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.905dup (p.Ala302_Glu303insTer) | BRCA1 | Pathogenic | 17 | 41246642 | 41246643 | A | AG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.903_904insT (p.Ala302fs) | BRCA1 | Pathogenic | 17 | 41246644 | 41246645 | C | CA | reviewed by expert panel | - |
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