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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.2887del (p.Thr963fs) | BRCA1 | Pathogenic | 17 | 41244661 | 41244661 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3006&base_change=del A,ClinGen:CA001882 |
| Deletion | NM_007294.4(BRCA1):c.2910del (p.Lys970fs) | BRCA1 | Pathogenic | 17 | 41244638 | 41244638 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3029&base_change=del A,ClinGen:CA001896 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2914G>T (p.Gly972Ter) | BRCA1 | Pathogenic | 17 | 41244634 | 41244634 | C | A | reviewed by expert panel | ClinGen:CA001900 |
| Deletion | NM_007294.4(BRCA1):c.2915del (p.Gly972fs) | BRCA1 | Pathogenic | 17 | 41244633 | 41244633 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3034&base_change=del G,ClinGen:CA001901 |
| Deletion | NM_007294.4(BRCA1):c.2920_2921del (p.Leu974fs) | BRCA1 | Pathogenic | 17 | 41244627 | 41244628 | TAA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3039&base_change=del TT,ClinGen:CA001904 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter) | BRCA1 | Pathogenic | 17 | 41244627 | 41244627 | A | T | reviewed by expert panel | ClinGen:CA001908 |
| Duplication | NM_007294.4(BRCA1):c.2921dup (p.Leu974fs) | BRCA1 | Pathogenic | 17 | 41244626 | 41244627 | T | TA | reviewed by expert panel | ClinGen:CA327845 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter) | BRCA1 | Pathogenic | 17 | 41244625 | 41244625 | G | A | reviewed by expert panel | ClinGen:CA001911 |
| Duplication | NM_007294.4(BRCA1):c.2929_2930dup (p.Tyr978fs) | BRCA1 | Pathogenic | 17 | 41244617 | 41244618 | T | TGG | reviewed by expert panel | ClinGen:CA327846 |
| Deletion | NM_007294.4(BRCA1):c.2934del (p.Arg979fs) | BRCA1 | Pathogenic | 17 | 41244614 | 41244614 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3053&base_change=del T,ClinGen:CA001914 |
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