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遺伝性乳がん・卵巣がん症候群
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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) | BRCA1 | Pathogenic | 17 | 41246723 | 41246724 | G | GCCACATGGCT | reviewed by expert panel | ClinGen:CA003921,OMIM:113705.0029 |
| single nucleotide variant | NM_007294.4(BRCA1):c.822T>A (p.Cys274Ter) | BRCA1 | Pathogenic | 17 | 41246726 | 41246726 | A | T | reviewed by expert panel | ClinGen:CA003919 |
| Deletion | NM_007294.4(BRCA1):c.835del (p.His279fs) | BRCA1 | Pathogenic | 17 | 41246713 | 41246713 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):954&base_change=del C,ClinGen:CA003929 |
| Deletion | NM_007294.4(BRCA1):c.83_84del (p.Leu28fs) | BRCA1 | Pathogenic | 17 | 41267793 | 41267794 | CCA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):202&base_change=del TG,ClinGen:CA003931 |
| Duplication | NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) | BRCA1 | Pathogenic | 17 | 41246697 | 41246698 | T | TGTAATGA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):969&base_change=ins TCATTAC,ClinGen:CA003939 |
| single nucleotide variant | NM_007294.4(BRCA1):c.848T>A (p.Leu283Ter) | BRCA1 | Pathogenic | 17 | 41246700 | 41246700 | A | T | reviewed by expert panel | ClinGen:CA003937 |
| single nucleotide variant | NM_007294.4(BRCA1):c.848T>G (p.Leu283Ter) | BRCA1 | Pathogenic | 17 | 41246700 | 41246700 | A | C | reviewed by expert panel | ClinGen:CA003938 |
| single nucleotide variant | NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter) | BRCA1 | Pathogenic | 17 | 41246698 | 41246698 | G | A | reviewed by expert panel | ClinGen:CA003940 |
| Deletion | NM_007294.4(BRCA1):c.851_852del (p.Gln284fs) | BRCA1 | Pathogenic | 17 | 41246696 | 41246697 | GCT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):970&base_change=del AG,ClinGen:CA003941 |
| Deletion | NM_007294.4(BRCA1):c.895_896del (p.Val299fs) | BRCA1 | Pathogenic | 17 | 41246652 | 41246653 | TAC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1013&base_change=del TG,Breast Cancer Information Core (BIC) (BRCA1):1014&base_change=del GT,ClinGen:CA003953 |
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