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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.2356del (p.Leu786fs) | BRCA1 | Pathogenic | 17 | 41245192 | 41245192 | AG | A | reviewed by expert panel | ClinGen:CA001575 |
| Deletion | NM_007294.4(BRCA1):c.2357del (p.Leu786fs) | BRCA1 | Pathogenic | 17 | 41245191 | 41245191 | CA | C | reviewed by expert panel | ClinGen:CA001576 |
| Deletion | NM_007294.4(BRCA1):c.2359del (p.Glu787fs) | BRCA1 | Pathogenic | 17 | 41245189 | 41245189 | TC | T | reviewed by expert panel | ClinGen:CA001578 |
| Duplication | NM_007294.4(BRCA1):c.2359dup (p.Glu787fs) | BRCA1 | Pathogenic | 17 | 41245188 | 41245189 | T | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2478&base_change=ins G,ClinGen:CA001577 |
| Deletion | NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs) | BRCA1 | Pathogenic | 17 | 41245158 | 41245159 | TTC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2508&base_change=del GA,ClinGen:CA001585 |
| Deletion | NM_007294.4(BRCA1):c.2389del (p.Glu797fs) | BRCA1 | Pathogenic | 17 | 41245159 | 41245159 | TC | T | reviewed by expert panel | ClinGen:CA001586 |
| Deletion | NM_007294.4(BRCA1):c.2390_2391del (p.Glu797fs) | BRCA1 | Pathogenic | 17 | 41245157 | 41245158 | GTT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2509&base_change=del AA,ClinGen:CA001589 |
| Deletion | NM_007294.4(BRCA1):c.2393del (p.Pro798fs) | BRCA1 | Pathogenic | 17 | 41245155 | 41245155 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2512&base_change=del C,ClinGen:CA001592 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2403T>A (p.Cys801Ter) | BRCA1 | Pathogenic | 17 | 41245145 | 41245145 | A | T | reviewed by expert panel | ClinGen:CA001597 |
| Deletion | NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs) | BRCA1 | Pathogenic | 17 | 41245139 | 41245142 | GACTC | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2525&base_change=del GAGT,ClinGen:CA001600 |
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