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) | ||||||||||
| Deletion | NM_000059.4(BRCA2):c.3343del (p.Ser1115fs) | BRCA2 | Pathogenic | 13 | 32911833 | 32911833 | CT | C | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.3345_3346dup (p.Thr1116fs) | BRCA2 | Pathogenic | 13 | 32911836 | 32911837 | C | CTA | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.3448_3449insAG (p.Thr1150fs) | BRCA2 | Pathogenic | 13 | 32911940 | 32911941 | A | AAG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.3813_3814insC (p.Met1272fs) | BRCA2 | Pathogenic | 13 | 32912305 | 32912306 | A | AC | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.4006_4007insCATC (p.Phe1336fs) | BRCA2 | Pathogenic | 13 | 32912498 | 32912499 | T | TCATC | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.4012_4013dup (p.Ser1339fs) | BRCA2 | Pathogenic | 13 | 32912503 | 32912504 | T | TGG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.4096_4097insCATC (p.Leu1366fs) | BRCA2 | Pathogenic | 13 | 32912586 | 32912587 | G | GTCCA | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.4160_4161insGGAAG (p.Thr1388fs) | BRCA2 | Pathogenic | 13 | 32912652 | 32912653 | T | TGGAAG | reviewed by expert panel | - |
| Deletion | NM_000059.4(BRCA2):c.4353_4359del (p.Pro1454fs) | BRCA2 | Pathogenic | 13 | 32912844 | 32912850 | GATCAGAA | G | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.4401_4402insA (p.Ser1468fs) | BRCA2 | Pathogenic | 13 | 32912893 | 32912894 | T | TA | reviewed by expert panel | - |
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