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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.2702_2703del (p.Thr900_Phe901insTer) | BRCA1 | Pathogenic | 17 | 41244845 | 41244846 | CAA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2819&base_change=del TT,ClinGen:CA001778 |
| Deletion | NM_007294.4(BRCA1):c.2709del (p.Cys903fs) | BRCA1 | Pathogenic | 17 | 41244839 | 41244839 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2828&base_change=del T,ClinGen:CA001784 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter) | BRCA1 | Pathogenic | 17 | 41244835 | 41244835 | G | A | reviewed by expert panel | ClinGen:CA001787 |
| Deletion | NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs) | BRCA1 | Pathogenic | 17 | 41244826 | 41244829 | TCTTC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2838&base_change=del GAAG,ClinGen:CA001789 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) | BRCA1 | Pathogenic | 17 | 41244826 | 41244826 | C | A | reviewed by expert panel | ClinGen:CA001792 |
| Deletion | NM_007294.4(BRCA1):c.2726_2730del (p.Asn909fs) | BRCA1 | Pathogenic | 17 | 41244818 | 41244822 | CTTGAT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2843&base_change=del AAATC,ClinGen:CA001794 |
| Deletion | NM_007294.4(BRCA1):c.2726del (p.Asn909fs) | BRCA1 | Pathogenic | 17 | 41244822 | 41244822 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2845&base_change=del A,ClinGen:CA001796 |
| Duplication | NM_007294.4(BRCA1):c.2726dup (p.Asn909fs) | BRCA1 | Pathogenic | 17 | 41244821 | 41244822 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2845&base_change=ins A,ClinGen:CA001793 |
| Deletion | NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs) | BRCA1 | Pathogenic | 17 | 41244818 | 41244821 | CTTGA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2844&base_change=del AATC,Breast Cancer Information Core (BIC) (BRCA1):2846&base_change=del TCAA,ClinGen:CA001797 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter) | BRCA1 | Pathogenic | 17 | 41244820 | 41244820 | G | A | reviewed by expert panel | ClinGen:CA001798 |
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