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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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter) | BRCA1 | Pathogenic | 17 | 41246083 | 41246083 | C | A | reviewed by expert panel | ClinGen:CA000984 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter) | BRCA1 | Pathogenic | 17 | 41246077 | 41246077 | G | A | reviewed by expert panel | ClinGen:CA000988 |
| Deletion | NM_007294.4(BRCA1):c.1483_1498del (p.Glu495fs) | BRCA1 | Pathogenic | 17 | 41246050 | 41246065 | TTTGTGAGGGGACGCTC | T | reviewed by expert panel | ClinGen:CA000992 |
| Deletion | NM_007294.4(BRCA1):c.1492del (p.Leu498fs) | BRCA1 | Pathogenic | 17 | 41246056 | 41246056 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1611&base_change=del C,ClinGen:CA001001 |
| Duplication | NM_007294.4(BRCA1):c.1499_1508dup (p.Lys503_Arg504insTer) | BRCA1 | Pathogenic | 17 | 41246039 | 41246040 | C | CTTTAATTTAT | reviewed by expert panel | ClinGen:CA356573 |
| Deletion | NM_007294.4(BRCA1):c.1499del (p.Asn500fs) | BRCA1 | Pathogenic | 17 | 41246049 | 41246049 | AT | A | reviewed by expert panel | ClinGen:CA001004 |
| Deletion | NM_007294.4(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer) | BRCA1 | Pathogenic | 17 | 41246038 | 41246042 | CGCTTT | C | reviewed by expert panel | ClinGen:CA001009 |
| Deletion | NM_007294.4(BRCA1):c.1508del (p.Lys503fs) | BRCA1 | Pathogenic | 17 | 41246040 | 41246040 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1627&base_change=del A,ClinGen:CA001012 |
| Deletion | NM_007294.4(BRCA1):c.150del (p.Lys50fs) | BRCA1 | Pathogenic | 17 | 41258535 | 41258535 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):269&base_change=del A,ClinGen:CA001014 |
| Duplication | NM_007294.4(BRCA1):c.1511dup (p.Arg504_Lys505insTer) | BRCA1 | Pathogenic | 17 | 41246036 | 41246037 | A | AC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1630&base_change=ins G,ClinGen:CA001017 |
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