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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.2670del (p.Ser891fs) | BRCA1 | Pathogenic | 17 | 41244878 | 41244878 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2789&base_change=del G,ClinGen:CA001748 |
| Deletion | NM_007294.4(BRCA1):c.2671del (p.Ser891fs) | BRCA1 | Pathogenic | 17 | 41244877 | 41244877 | GA | G | reviewed by expert panel | ClinGen:CA001750 |
| Deletion | NM_007294.4(BRCA1):c.2675_2678del (p.Ser891_Leu892insTer) | BRCA1 | Pathogenic | 17 | 41244870 | 41244873 | CTTTA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2794&base_change=del TAAA,ClinGen:CA001751 |
| Deletion | NM_007294.4(BRCA1):c.2679_2680del (p.Lys894fs) | BRCA1 | Pathogenic | 17 | 41244868 | 41244869 | TTC | T | reviewed by expert panel | ClinGen:CA001755 |
| Deletion | NM_007294.4(BRCA1):c.2682del (p.Lys894fs) | BRCA1 | Pathogenic | 17 | 41244866 | 41244866 | GT | G | reviewed by expert panel | ClinGen:CA001762 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter) | BRCA1 | Pathogenic | 17 | 41244865 | 41244865 | G | A | reviewed by expert panel | ClinGen:CA001764 |
| Deletion | NM_007294.4(BRCA1):c.2683_2686del (p.Gln895fs) | BRCA1 | Pathogenic | 17 | 41244862 | 41244865 | CTTTG | C | reviewed by expert panel | ClinGen:CA001763 |
| Deletion | NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) | BRCA1 | Pathogenic | 17 | 41244862 | 41244863 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2804&base_change=del AA,ClinGen:CA001766 |
| Duplication | NM_007294.4(BRCA1):c.2694dup (p.Val899fs) | BRCA1 | Pathogenic | 17 | 41244853 | 41244854 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2809&base_change=ins A,ClinGen:CA267965 |
| Deletion | NM_007294.4(BRCA1):c.269_281del (p.Ile90fs) | BRCA1 | Pathogenic | 17 | 41256905 | 41256917 | CTGAAAAGCACAAA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):388&base_change=del 13,ClinGen:CA001773 |
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