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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.3503del (p.Asn1168fs) | BRCA1 | Pathogenic | 17 | 41244045 | 41244045 | AT | A | reviewed by expert panel | ClinGen:CA002252 |
| Deletion | NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) | BRCA1 | Pathogenic | 17 | 41243936 | 41243936 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3731&base_change=del A,ClinGen:CA002307 |
| Duplication | NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) | BRCA1 | Pathogenic | 17 | 41243920 | 41243921 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3746&base_change=ins A,ClinGen:CA002323 |
| Duplication | NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) | BRCA1 | Pathogenic | 17 | 41243900 | 41243900 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3767&base_change=ins A,ClinGen:CA002335 |
| Deletion | NM_007294.4(BRCA1):c.3683del (p.His1228fs) | BRCA1 | Pathogenic | 17 | 41243865 | 41243865 | GT | G | reviewed by expert panel | ClinGen:CA002355 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter) | BRCA1 | Pathogenic | 17 | 41243859 | 41243859 | A | C | reviewed by expert panel | ClinGen:CA002359 |
| Deletion | NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs) | BRCA1 | Pathogenic | 17 | 41243788 | 41243789 | TTA | T | reviewed by expert panel | ClinGen:CA002410,Breast Cancer Information Core (BIC) (BRCA1):3878&base_change=del TA |
| Duplication | NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs) | BRCA1 | Pathogenic | 17 | 41243783 | 41243784 | G | GT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3883&base_change=ins A,ClinGen:CA002420 |
| Indel | NM_007294.4(BRCA1):c.3771_3772delinsC (p.Glu1257fs) | BRCA1 | Pathogenic | 17 | 41243776 | 41243777 | CC | G | reviewed by expert panel | ClinGen:CA002426 |
| Duplication | NM_007294.4(BRCA1):c.3825dup (p.Leu1276fs) | BRCA1 | Pathogenic | 17 | 41243722 | 41243723 | A | AT | reviewed by expert panel | ClinGen:CA002465 |
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