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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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.1945G>T (p.Glu649Ter) | BRCA1 | Pathogenic | 17 | 41245603 | 41245603 | C | A | reviewed by expert panel | ClinGen:CA001287 |
| Deletion | NM_007294.4(BRCA1):c.1949_1950del (p.Ile650fs) | BRCA1 | Pathogenic | 17 | 41245598 | 41245599 | TTA | T | reviewed by expert panel | ClinGen:CA001289 |
| Deletion | NM_007294.4(BRCA1):c.1952del (p.Lys651fs) | BRCA1 | Pathogenic | 17 | 41245596 | 41245596 | CT | C | reviewed by expert panel | ClinGen:CA001291 |
| Duplication | NM_007294.4(BRCA1):c.1952dup (p.Lys652fs) | BRCA1 | Pathogenic | 17 | 41245595 | 41245596 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2071&base_change=ins A,ClinGen:CA001290 |
| Duplication | NM_007294.4(BRCA1):c.1953dup (p.Lys652fs) | BRCA1 | Pathogenic | 17 | 41245594 | 41245595 | T | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2072&base_change=ins G,ClinGen:CA001292 |
| Deletion | NM_007294.4(BRCA1):c.1958_1961del (p.Lys653fs) | BRCA1 | Pathogenic | 17 | 41245587 | 41245590 | CTTTT | C | reviewed by expert panel | ClinGen:CA001296 |
| Deletion | NM_007294.4(BRCA1):c.195del (p.Asn66fs) | BRCA1 | Pathogenic | 17 | 41258490 | 41258490 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):314&base_change=del G,ClinGen:CA001299 |
| Deletion | NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs) | BRCA1 | Pathogenic | 17 | 41245587 | 41245588 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2079&base_change=del AA,ClinGen:CA001301 |
| Duplication | NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) | BRCA1 | Pathogenic | 17 | 41245586 | 41245587 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2080&base_change=ins A,ClinGen:CA001304 |
| Insertion | NM_007294.4(BRCA1):c.1963_1964insG (p.Tyr655Ter) | BRCA1 | Pathogenic | 17 | 41245584 | 41245585 | T | TC | reviewed by expert panel | ClinGen:CA001307 |
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