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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_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) | BRCA2 | Pathogenic | 13 | 32913795 | 32913796 | CTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):5531&base_change=del TT,ClinGen:CA021993 |
| Deletion | NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) | BRCA2 | Pathogenic | 13 | 32913837 | 32913838 | CAA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):5578&base_change=del AA,ClinGen:CA022093 |
| Duplication | NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) | BRCA2 | Pathogenic | 13 | 32913836 | 32913837 | C | CA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):5579&base_change=ins A,ClinGen:CA022104 |
| Deletion | NM_000059.4(BRCA2):c.5351del (p.Asn1784fs) | BRCA2 | Pathogenic | 13 | 32913837 | 32913837 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):5579&base_change=del A,ClinGen:CA022110 |
| Deletion | NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs) | BRCA2 | Pathogenic | 13 | 32913901 | 32913902 | CTG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):5638&base_change=del GT,ClinGen:CA022266 |
| Deletion | NM_000059.4(BRCA2):c.5436del (p.Glu1812fs) | BRCA2 | Pathogenic | 13 | 32913927 | 32913927 | GA | G | reviewed by expert panel | ClinGen:CA022325 |
| Duplication | NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs) | BRCA2 | Pathogenic | 13 | 32913958 | 32913959 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):5699&base_change=ins A,ClinGen:CA022391 |
| Deletion | NM_000059.4(BRCA2):c.5498del (p.Asn1833fs) | BRCA2 | Pathogenic | 13 | 32913989 | 32913989 | TA | T | reviewed by expert panel | ClinGen:CA022455 |
| Deletion | NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) | BRCA2 | Pathogenic | 13 | 32914068 | 32914071 | CAATT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):5803&base_change=del ATTA,Breast Cancer Information Core (BIC) (BRCA2):5804&base_change=del TTAA,ClinGen:CA022586 |
| Deletion | NM_000059.4(BRCA2):c.5577del (p.Lys1861_Val1862insTer) | BRCA2 | Pathogenic | 13 | 32914068 | 32914068 | AT | A | reviewed by expert panel | ClinGen:CA022612 |
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