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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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.2658_2659insA (p.Ala887fs) | BRCA1 | Pathogenic | 17 | 41244889 | 41244890 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2777&base_change=ins A,ClinGen:CA001740 |
| Deletion | NM_007294.4(BRCA1):c.2686del (p.Ser896fs) | BRCA1 | Pathogenic | 17 | 41244862 | 41244862 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2805&base_change=del A,ClinGen:CA001770 |
| Deletion | NM_007294.4(BRCA1):c.171del (p.Pro58fs) | BRCA1 | Pathogenic | 17 | 41258514 | 41258514 | GC | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):290&base_change=del G,ClinGen:CA001126 |
| Deletion | NM_007294.4(BRCA1):c.2799del (p.Gln934fs) | BRCA1 | Pathogenic | 17 | 41244749 | 41244749 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2918&base_change=del T,ClinGen:CA001835 |
| Deletion | NM_007294.4(BRCA1):c.2868del (p.Gln957fs) | BRCA1 | Pathogenic | 17 | 41244680 | 41244680 | GA | G | reviewed by expert panel | ClinGen:CA001868,Breast Cancer Information Core (BIC) (BRCA1):2987&base_change=del T |
| Insertion | NM_007294.4(BRCA1):c.2871_2872insA (p.Phe958fs) | BRCA1 | Pathogenic | 17 | 41244676 | 41244677 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2990&base_change=ins A,ClinGen:CA001872 |
| Deletion | NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs) | BRCA1 | Pathogenic | 17 | 41244658 | 41244659 | CCA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3008&base_change=del TG,ClinGen:CA001885 |
| Indel | NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter) | BRCA1 | Pathogenic | 17 | 41244552 | 41244553 | AG | TA | reviewed by expert panel | ClinGen:CA001945 |
| Duplication | NM_007294.4(BRCA1):c.3044dup (p.Asn1016fs) | BRCA1 | Pathogenic | 17 | 41244503 | 41244504 | T | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3163&base_change=ins G,ClinGen:CA002001 |
| Indel | NM_007294.4(BRCA1):c.3114_3117delinsGA (p.Ala1039fs) | BRCA1 | Pathogenic | 17 | 41244431 | 41244434 | GGCT | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3233&base_change=del AGCC ins GA,ClinGen:CA002037 |
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