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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.4122_4123del (p.Ser1374fs) | BRCA1 | Pathogenic | 17 | 41243023 | 41243024 | TCA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4241&base_change=del TG,ClinGen:CA002643 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter) | BRCA1 | Pathogenic | 17 | 41243023 | 41243023 | C | A | reviewed by expert panel | ClinGen:CA002644 |
| Deletion | NM_007294.4(BRCA1):c.412_418del (p.Leu138fs) | BRCA1 | Pathogenic | 17 | 41256162 | 41256168 | CTCTGTAG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):531&base_change=del CTACAGA,ClinGen:CA002645 |
| Deletion | NM_007294.4(BRCA1):c.4158_4162del (p.Ser1387fs) | BRCA1 | Pathogenic | 17 | 41242984 | 41242988 | TGAGAG | T | reviewed by expert panel | ClinGen:CA002659 |
| single nucleotide variant | NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter) | BRCA1 | Pathogenic | 17 | 41256165 | 41256165 | G | A | reviewed by expert panel | ClinGen:CA002660 |
| Deletion | NM_007294.4(BRCA1):c.4163_4166del (p.Gln1388fs) | BRCA1 | Pathogenic | 17 | 41242980 | 41242983 | ACTCT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4282&base_change=del AGAG,ClinGen:CA002663 |
| Deletion | NM_007294.4(BRCA1):c.4167_4168del (p.Ser1389fs) | BRCA1 | Pathogenic | 17 | 41242978 | 41242979 | TCA | T | reviewed by expert panel | ClinGen:CA002666 |
| Deletion | NM_007294.4(BRCA1):c.4167_4170del (p.Ser1389fs) | BRCA1 | Pathogenic | 17 | 41242976 | 41242979 | TGTCA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4286&base_change=del TGAC,ClinGen:CA002668 |
| Deletion | NM_007294.4(BRCA1):c.4167del (p.Ser1389fs) | BRCA1 | Pathogenic | 17 | 41242979 | 41242979 | CA | C | reviewed by expert panel | ClinGen:CA002669 |
| Duplication | NM_007294.4(BRCA1):c.4182_4183dup (p.Gln1395fs) | BRCA1 | Pathogenic | 17 | 41242962 | 41242963 | T | TGA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4302&base_change=ins TC,ClinGen:CA002674 |
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