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_007294.4(BRCA1):c.876_879del (p.Thr293fs) | BRCA1 | Pathogenic | 17 | 41246669 | 41246672 | TAGTG | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.834_835insA (p.His279fs) | BRCA1 | Pathogenic | 17 | 41246713 | 41246714 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.828_829insT (p.Asn277Ter) | BRCA1 | Pathogenic | 17 | 41246719 | 41246720 | T | TA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.816_817insTCCATGTGGA (p.Pro273fs) | BRCA1 | Pathogenic | 17 | 41246731 | 41246732 | G | GTCCACATGGA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.770_771insGA (p.His257fs) | BRCA1 | Pathogenic | 17 | 41246777 | 41246778 | A | ATC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.770dup (p.His257fs) | BRCA1 | Pathogenic | 17 | 41246777 | 41246778 | A | AT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.745dup (p.Thr249fs) | BRCA1 | Pathogenic | 17 | 41246802 | 41246803 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.730_731insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244delinsSerAsnLysTyrTer) | BRCA1 | Pathogenic | 17 | 41246817 | 41246818 | T | TTACTGGGTTGATGATGTTCAGTATTTGTTAC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.678_679insC (p.Glu227fs) | BRCA1 | Pathogenic | 17 | 41246869 | 41246870 | C | CG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.376_377insT (p.Gln126fs) | BRCA1 | Pathogenic | 17 | 41256203 | 41256204 | T | TA | reviewed by expert panel | - |
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