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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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.2192_2196del (p.Lys731fs) | BRCA1 | Pathogenic | 17 | 41245352 | 41245356 | CTTCTT | C | reviewed by expert panel | ClinGen:CA001462 |
| Deletion | NM_007294.4(BRCA1):c.2193_2196del (p.Glu732fs) | BRCA1 | Pathogenic | 17 | 41245352 | 41245355 | CTTCT | C | reviewed by expert panel | ClinGen:CA001464 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter) | BRCA1 | Pathogenic | 17 | 41245354 | 41245354 | C | A | reviewed by expert panel | ClinGen:CA001465 |
| Deletion | NM_007294.4(BRCA1):c.2196del (p.Glu733fs) | BRCA1 | Pathogenic | 17 | 41245352 | 41245352 | CT | C | reviewed by expert panel | ClinGen:CA001466 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter) | BRCA1 | Pathogenic | 17 | 41245351 | 41245351 | C | A | reviewed by expert panel | ClinGen:CA001468 |
| Deletion | NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) | BRCA1 | Pathogenic | 17 | 41245347 | 41245351 | TTTCTC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2313&base_change=del GAAGA,Breast Cancer Information Core (BIC) (BRCA1):2314&base_change=del AAGAG,Breast Cancer Information Core (BIC) (BRCA1):2316&base_change=del GAGAA,Breast Cancer Information Core (BIC) (BRCA1):2312&base_change=del AGAAG,ClinGen:CA001467 |
| Deletion | NM_007294.4(BRCA1):c.2202del (p.Lys734fs) | BRCA1 | Pathogenic | 17 | 41245346 | 41245346 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2321&base_change=del A,ClinGen:CA001471 |
| Deletion | NM_007294.4(BRCA1):c.2203del (p.Lys734_Leu735insTer) | BRCA1 | Pathogenic | 17 | 41245345 | 41245345 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2322&base_change=del C,ClinGen:CA001473 |
| Deletion | NM_007294.4(BRCA1):c.2206del (p.Glu736fs) | BRCA1 | Pathogenic | 17 | 41245342 | 41245342 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2325&base_change=del G,ClinGen:CA001474 |
| single nucleotide variant | NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) | BRCA1 | Pathogenic | 17 | 41256966 | 41256966 | G | A | reviewed by expert panel | ClinGen:CA001476 |
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