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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.1831del (p.Arg610_Leu611insTer) | BRCA1 | Pathogenic | 17 | 41245717 | 41245717 | AG | A | reviewed by expert panel | ClinGen:CA001193 |
| Deletion | NM_007294.4(BRCA1):c.1837del (p.Arg613fs) | BRCA1 | Pathogenic | 17 | 41245711 | 41245711 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1956&base_change=del A,ClinGen:CA001197 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1840A>T (p.Lys614Ter) | BRCA1 | Pathogenic | 17 | 41245708 | 41245708 | T | A | reviewed by expert panel | ClinGen:CA001199 |
| Duplication | NM_007294.4(BRCA1):c.1846dup (p.Ser616fs) | BRCA1 | Pathogenic | 17 | 41245701 | 41245702 | G | GA | reviewed by expert panel | ClinGen:CA327784 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter) | BRCA1 | Pathogenic | 17 | 41245678 | 41245678 | C | A | reviewed by expert panel | ClinGen:CA001216 |
| Duplication | NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) | BRCA1 | Pathogenic | 17 | 41245670 | 41245671 | T | TACTA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1996&base_change=ins TAGT,ClinGen:CA001219 |
| Deletion | NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) | BRCA1 | Pathogenic | 17 | 41245664 | 41245667 | TACTG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2000&base_change=del CAGT,ClinGen:CA001222 |
| single nucleotide variant | NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) | BRCA1 | Pathogenic | 17 | 41258497 | 41258497 | A | T | reviewed by expert panel | ClinGen:CA001227 |
| Duplication | NM_007294.4(BRCA1):c.1892dup (p.Ser632fs) | BRCA1 | Pathogenic | 17 | 41245655 | 41245656 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2011&base_change=ins T,ClinGen:CA001230 |
| Deletion | NM_007294.4(BRCA1):c.1898del (p.Pro633fs) | BRCA1 | Pathogenic | 17 | 41245650 | 41245650 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2017&base_change=del C,ClinGen:CA001239 |
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