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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.143del (p.Met48fs) | BRCA1 | Pathogenic | 17 | 41258542 | 41258542 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):262&base_change=del T,ClinGen:CA000963 |
| Deletion | NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) | BRCA1 | Pathogenic | 17 | 41246101 | 41246104 | ATAAT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1563&base_change=del ATTA,ClinGen:CA000965 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) | BRCA1 | Pathogenic | 17 | 41246068 | 41246068 | G | A | reviewed by expert panel | ClinGen:CA000991 |
| Deletion | NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) | BRCA1 | Pathogenic | 17 | 41246040 | 41246044 | CTTTAA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1623&base_change=del TTAAA,ClinGen:CA353757 |
| Deletion | NM_007294.4(BRCA1):c.1510del (p.Arg504fs) | BRCA1 | Pathogenic | 17 | 41246038 | 41246038 | CG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1629&base_change=del C,ClinGen:CA353756 |
| 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 |
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