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.5248_5249insTC (p.Lys1750fs) | BRCA1 | Pathogenic | 17 | 41209097 | 41209098 | T | TGA | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.5249dup (p.Arg1751fs) | BRCA1 | Pathogenic | 17 | 41209096 | 41209097 | C | CT | reviewed by expert panel | ClinGen:CA645373152 |
| Insertion | NM_007294.4(BRCA1):c.5247_5248insTC (p.Lys1750fs) | BRCA1 | Pathogenic | 17 | 41209098 | 41209099 | T | TGA | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.5237del (p.His1746fs) | BRCA1 | Pathogenic | 17 | 41209109 | 41209109 | GT | G | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5210_5211insC (p.Arg1737fs) | BRCA1 | Pathogenic | 17 | 41209135 | 41209136 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5201_5202insC (p.Phe1734_Glu1735insTer) | BRCA1 | Pathogenic | 17 | 41209144 | 41209145 | A | AG | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.5165dup (p.Ile1723fs) | BRCA1 | Pathogenic | 17 | 41215377 | 41215378 | A | AG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5156_5157insAATA (p.Thr1720fs) | BRCA1 | Pathogenic | 17 | 41215386 | 41215387 | C | CTATT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5148_5149insC (p.Phe1717fs) | BRCA1 | Pathogenic | 17 | 41215894 | 41215895 | A | AG | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.5102del (p.Leu1701fs) | BRCA1 | Pathogenic | 17 | 41215941 | 41215941 | CA | C | reviewed by expert panel | - |
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