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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.923del (p.Ser308fs) | BRCA1 | Pathogenic | 17 | 41246625 | 41246625 | GC | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1042&base_change=del G,ClinGen:CA003965 |
| Deletion | NM_007294.4(BRCA1):c.924del (p.Ser308fs) | BRCA1 | Pathogenic | 17 | 41246624 | 41246624 | TG | T | reviewed by expert panel | ClinGen:CA003967 |
| Deletion | NM_007294.4(BRCA1):c.927del (p.Lys309fs) | BRCA1 | Pathogenic | 17 | 41246621 | 41246621 | GT | G | reviewed by expert panel | ClinGen:CA003971 |
| single nucleotide variant | NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter) | BRCA1 | Pathogenic | 17 | 41246620 | 41246620 | G | A | reviewed by expert panel | ClinGen:CA003972 |
| Deletion | NM_007294.4(BRCA1):c.930del (p.Gln310fs) | BRCA1 | Pathogenic | 17 | 41246618 | 41246618 | GC | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1049&base_change=del G,ClinGen:CA003974 |
| single nucleotide variant | NM_007294.4(BRCA1):c.949C>T (p.Gln317Ter) | BRCA1 | Pathogenic | 17 | 41246599 | 41246599 | G | A | reviewed by expert panel | ClinGen:CA003980 |
| Deletion | NM_007294.4(BRCA1):c.949_953del (p.Ser316_Gln317insTer) | BRCA1 | Pathogenic | 17 | 41246595 | 41246599 | ATGTTG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1068&base_change=del CAACA,ClinGen:CA003979 |
| Deletion | NM_007294.4(BRCA1):c.959_960del (p.Arg320fs) | BRCA1 | Pathogenic | 17 | 41246588 | 41246589 | ATC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1078&base_change=del GA,ClinGen:CA003984 |
| Deletion | NM_007294.4(BRCA1):c.961del (p.Trp321fs) | BRCA1 | Pathogenic | 17 | 41246587 | 41246587 | CA | C | reviewed by expert panel | ClinGen:CA003985 |
| Deletion | NM_007294.4(BRCA1):c.964del (p.Ala322fs) | BRCA1 | Pathogenic | 17 | 41246584 | 41246584 | GC | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1083&base_change=del G,ClinGen:CA003987 |
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