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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.2308del (p.Ser770fs) | BRCA1 | Pathogenic | 17 | 41245240 | 41245240 | GA | G | reviewed by expert panel | ClinGen:CA001535 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) | BRCA1 | Pathogenic | 17 | 41245239 | 41245239 | G | T | reviewed by expert panel | ClinGen:CA001536 |
| Indel | NM_007294.4(BRCA1):c.230delinsGTCAACTTGTT (p.Thr77fs) | BRCA1 | Pathogenic | 17 | 41256956 | 41256956 | G | AACAAGTTGAC | reviewed by expert panel | ClinGen:CA327807 |
| Deletion | NM_007294.4(BRCA1):c.2314del (p.Val772fs) | BRCA1 | Pathogenic | 17 | 41245234 | 41245234 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2433&base_change=del G,ClinGen:CA001544 |
| Deletion | NM_007294.4(BRCA1):c.2329del (p.Tyr777fs) | BRCA1 | Pathogenic | 17 | 41245219 | 41245219 | TA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2448&base_change=del T,ClinGen:CA001553 |
| Deletion | NM_007294.4(BRCA1):c.232del (p.Arg78fs) | BRCA1 | Pathogenic | 17 | 41256954 | 41256954 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):351&base_change=del A,ClinGen:CA001555 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2331T>A (p.Tyr777Ter) | BRCA1 | Pathogenic | 17 | 41245217 | 41245217 | A | T | reviewed by expert panel | ClinGen:CA001557 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) | BRCA1 | Pathogenic | 17 | 41245210 | 41245210 | G | A | reviewed by expert panel | ClinGen:CA001563 |
| Deletion | NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs) | BRCA1 | Pathogenic | 17 | 41245191 | 41245197 | CAGTAACG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2470&base_change=del CGTTACT,ClinGen:CA001568 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2354T>A (p.Leu785Ter) | BRCA1 | Pathogenic | 17 | 41245194 | 41245194 | A | T | reviewed by expert panel | ClinGen:CA001571 |
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