Knowledge base for genomic medicine in Japanese
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ウィルムス腫瘍
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_000059.4(BRCA2):c.223_224insA (p.Ala75fs) | BRCA2 | Pathogenic | 13 | 32893369 | 32893370 | G | GA | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.275_276insCCAT (p.Gln92fs) | BRCA2 | Pathogenic | 13 | 32893421 | 32893422 | A | ACCAT | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.465_466insT (p.Asp156Ter) | BRCA2 | Pathogenic | 13 | 32900277 | 32900278 | A | AT | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.468dup (p.Lys157Ter) | BRCA2 | Pathogenic | 13 | 32900279 | 32900280 | A | AT | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.488dup (p.Ser163fs) | BRCA2 | Pathogenic | 13 | 32900390 | 32900391 | A | AG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.515_516insC (p.Lys172fs) | BRCA2 | Pathogenic | 13 | 32900418 | 32900419 | A | AC | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.565dup (p.Asp189fs) | BRCA2 | Pathogenic | 13 | 32900682 | 32900683 | T | TG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.568_569insAACG (p.Pro190fs) | BRCA2 | Pathogenic | 13 | 32900687 | 32900688 | C | CAACG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.612_613insTGAG (p.Ser205Ter) | BRCA2 | Pathogenic | 13 | 32900731 | 32900732 | T | TTGAG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.728_729insC (p.Asn243_Asp244insTer) | BRCA2 | Pathogenic | 13 | 32905102 | 32905103 | A | AC | reviewed by expert panel | - |
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