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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.2203del (p.Lys734_Leu735insTer) | BRCA1 | Pathogenic | 17 | 41245345 | 41245345 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2322&base_change=del C,ClinGen:CA001473 |
| Deletion | NM_007294.4(BRCA1):c.2206del (p.Glu736fs) | BRCA1 | Pathogenic | 17 | 41245342 | 41245342 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2325&base_change=del G,ClinGen:CA001474 |
| single nucleotide variant | NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) | BRCA1 | Pathogenic | 17 | 41256966 | 41256966 | G | A | reviewed by expert panel | ClinGen:CA001476 |
| Deletion | NM_007294.4(BRCA1):c.2210del (p.Thr737fs) | BRCA1 | Pathogenic | 17 | 41245338 | 41245338 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2329&base_change=del C,ClinGen:CA001478 |
| Deletion | NM_007294.4(BRCA1):c.2211_2212del (p.Thr737_Val738insTer) | BRCA1 | Pathogenic | 17 | 41245336 | 41245337 | ACT | A | reviewed by expert panel | ClinGen:CA001479 |
| Deletion | NM_007294.4(BRCA1):c.2212_2215del (p.Val738fs) | BRCA1 | Pathogenic | 17 | 41245333 | 41245336 | TTAAC | T | reviewed by expert panel | ClinGen:CA001480 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter) | BRCA1 | Pathogenic | 17 | 41245333 | 41245333 | T | A | reviewed by expert panel | ClinGen:CA001484 |
| Deletion | NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs) | BRCA1 | Pathogenic | 17 | 41245331 | 41245332 | CTT | C | reviewed by expert panel | ClinGen:CA001485 |
| Duplication | NM_007294.4(BRCA1):c.2236dup (p.Asp746fs) | BRCA1 | Pathogenic | 17 | 41245311 | 41245312 | T | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2355&base_change=ins G,ClinGen:CA001497 |
| Deletion | NM_007294.4(BRCA1):c.2241del (p.Asp749fs) | BRCA1 | Pathogenic | 17 | 41245307 | 41245307 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2360&base_change=del C,ClinGen:CA001500 |
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