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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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs) | BRCA1 | Pathogenic | 17 | 41197807 | 41197808 | A | ATC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5598&base_change=ins GA,ClinGen:CA003642 |
| Deletion | NM_007294.4(BRCA1):c.882del (p.Asp295fs) | BRCA1 | Pathogenic | 17 | 41246666 | 41246666 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1001&base_change=del A,ClinGen:CA003945 |
| Insertion | NM_007294.4(BRCA1):c.902_903insT (p.Lys301fs) | BRCA1 | Pathogenic | 17 | 41246645 | 41246646 | C | CA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1021&base_change=ins T,ClinGen:CA003958 |
| Insertion | NM_007294.4(BRCA1):c.984_985insC (p.Asn329fs) | BRCA1 | Pathogenic | 17 | 41246563 | 41246564 | T | TG | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1103&base_change=ins C,ClinGen:CA003997 |
| Insertion | NM_007294.4(BRCA1):c.1101_1102insC (p.Glu368fs) | BRCA1 | Pathogenic | 17 | 41246446 | 41246447 | C | CG | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1220&base_change=ins C,ClinGen:CA000735 |
| Duplication | NM_007294.4(BRCA1):c.1129dup (p.Ser377fs) | BRCA1 | Pathogenic | 17 | 41246418 | 41246419 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1248&base_change=ins A,ClinGen:CA000755 |
| Deletion | NM_007294.4(BRCA1):c.19_47del (p.Arg7fs) | BRCA1 | Pathogenic | 17 | 41276067 | 41276095 | ATTAATGACATTTTGTACTTCTTCAACGCG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):138&base_change=del 29,ClinGen:CA001288 |
| Deletion | NM_007294.4(BRCA1):c.1356del (p.Glu453fs) | BRCA1 | Pathogenic | 17 | 41246192 | 41246192 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1475&base_change=del A,ClinGen:CA000902 |
| Duplication | NM_007294.4(BRCA1):c.1392dup (p.Tyr465fs) | BRCA1 | Pathogenic | 17 | 41246155 | 41246156 | A | AG | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1511&base_change=ins C,ClinGen:CA000933 |
| Insertion | NM_007294.4(BRCA1):c.1440_1441insA (p.Leu481fs) | BRCA1 | Pathogenic | 17 | 41246107 | 41246108 | G | GT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1559&base_change=ins A,ClinGen:CA000964 |
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