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家族性膵がん
腫瘍性疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.1674del (p.Gly559fs) | BRCA1 | Pathogenic | 17 | 41245874 | 41245874 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1793&base_change=del A,ClinGen:CA001103 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) | BRCA1 | Pathogenic | 17 | 41245861 | 41245861 | G | A | reviewed by expert panel | ClinGen:CA001106 |
| Duplication | NM_007294.4(BRCA1):c.1728dup (p.Glu577fs) | BRCA1 | Pathogenic | 17 | 41245819 | 41245820 | C | CT | reviewed by expert panel | ClinGen:CA001130 |
| Deletion | NM_007294.4(BRCA1):c.1854del (p.Arg618fs) | BRCA1 | Pathogenic | 17 | 41245694 | 41245694 | GC | G | reviewed by expert panel | ClinGen:CA001206 |
| Duplication | NM_007294.4(BRCA1):c.1921dup (p.Ile641fs) | BRCA1 | Pathogenic | 17 | 41245626 | 41245627 | A | AT | reviewed by expert panel | ClinGen:CA001266 |
| Deletion | NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) | BRCA1 | Pathogenic | 17 | 41245592 | 41245595 | TTTTC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2072&base_change=del GAAA,Breast Cancer Information Core (BIC) (BRCA1):2017&base_change=del GAAA,ClinGen:CA001293 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter) | BRCA1 | Pathogenic | 17 | 41245588 | 41245588 | T | A | reviewed by expert panel | ClinGen:CA001303 |
| Deletion | NM_007294.4(BRCA1):c.1961del (p.Lys654fs) | BRCA1 | Pathogenic | 17 | 41245587 | 41245587 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2080&base_change=del A,ClinGen:CA001306 |
| Deletion | NM_007294.4(BRCA1):c.1972del (p.Met658fs) | BRCA1 | Pathogenic | 17 | 41245576 | 41245576 | AT | A | reviewed by expert panel | ClinGen:CA001317 |
| Deletion | NM_007294.4(BRCA1):c.2071del (p.Arg691fs) | BRCA1 | Pathogenic | 17 | 41245477 | 41245477 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2187&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):2190&base_change=del A,ClinGen:CA001367 |
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