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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.2728del (p.Gln910fs) | BRCA1 | Pathogenic | 17 | 41244820 | 41244820 | TG | T | reviewed by expert panel | ClinGen:CA001799 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter) | BRCA1 | Pathogenic | 17 | 41244808 | 41244808 | C | A | reviewed by expert panel | ClinGen:CA001806 |
| Deletion | NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer) | BRCA1 | Pathogenic | 17 | 41244803 | 41244804 | TAG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2862&base_change=del TC,ClinGen:CA001807,OMIM:113705.0009 |
| Duplication | NM_007294.4(BRCA1):c.2745dup (p.Asn916Ter) | BRCA1 | Pathogenic | 17 | 41244802 | 41244803 | T | TA | reviewed by expert panel | ClinGen:CA327837 |
| Duplication | NM_007294.4(BRCA1):c.2749dup (p.Ile917fs) | BRCA1 | Pathogenic | 17 | 41244798 | 41244799 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2867&base_change=ins A,ClinGen:CA001809 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter) | BRCA1 | Pathogenic | 17 | 41244787 | 41244787 | G | A | reviewed by expert panel | ClinGen:CA001817 |
| Deletion | NM_007294.4(BRCA1):c.2762del (p.Gln921fs) | BRCA1 | Pathogenic | 17 | 41244786 | 41244786 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2881&base_change=del A,ClinGen:CA001818 |
| Deletion | NM_007294.4(BRCA1):c.2766del (p.Val923fs) | BRCA1 | Pathogenic | 17 | 41244782 | 41244782 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2885&base_change=del A,ClinGen:CA001823 |
| Deletion | NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs) | BRCA1 | Pathogenic | 17 | 41244778 | 41244781 | TTAAC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2886&base_change=del GTTA,ClinGen:CA001824 |
| Deletion | NM_007294.4(BRCA1):c.2798_2799del (p.Gly933fs) | BRCA1 | Pathogenic | 17 | 41244749 | 41244750 | GAC | G | reviewed by expert panel | ClinGen:CA001833 |
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