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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.2903dup (p.Asn969fs) | BRCA1 | Pathogenic | 17 | 41244644 | 41244645 | T | TG | reviewed by expert panel | ClinGen:CA645373188 |
| Insertion | NM_007294.4(BRCA1):c.2872_2873insA (p.Phe958fs) | BRCA1 | Pathogenic | 17 | 41244675 | 41244676 | A | AT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.2866dup (p.Ser956fs) | BRCA1 | Pathogenic | 17 | 41244681 | 41244682 | G | GA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2851_2852insC (p.Arg951fs) | BRCA1 | Pathogenic | 17 | 41244696 | 41244697 | C | CG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2788_2789insTTATCACTGCAGGCTTT (p.Pro930fs) | BRCA1 | Pathogenic | 17 | 41244759 | 41244760 | G | GAAAGCCTGCAGTGATAA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2778_2779insAT (p.Ala927fs) | BRCA1 | Pathogenic | 17 | 41244769 | 41244770 | C | CAT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2755_2756insGGGTG (p.Pro919fs) | BRCA1 | Pathogenic | 17 | 41244792 | 41244793 | G | GCACCC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.2690_2691dup (p.Lys898fs) | BRCA1 | Pathogenic | 17 | 41244856 | 41244857 | T | TTG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2688_2689insA (p.Pro897fs) | BRCA1 | Pathogenic | 17 | 41244859 | 41244860 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2660_2661insA (p.His888fs) | BRCA1 | Pathogenic | 17 | 41244887 | 41244888 | G | GT | reviewed by expert panel | - |
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