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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.6401_6404del (p.Asn2134fs) | BRCA2 | Pathogenic | 13 | 32914891 | 32914894 | CAAAT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):6629&base_change=del ATAA,ClinGen:CA023989 |
| Deletion | NM_000059.4(BRCA2):c.6406_6407del (p.Leu2136fs) | BRCA2 | Pathogenic | 13 | 32914898 | 32914899 | CTT | C | reviewed by expert panel | ClinGen:CA024002 |
| Deletion | NM_000059.4(BRCA2):c.6407_6411del (p.Leu2136fs) | BRCA2 | Pathogenic | 13 | 32914898 | 32914902 | CTTAAA | C | reviewed by expert panel | ClinGen:CA024004,Breast Cancer Information Core (BIC) (BRCA2):6635&base_change=del TAAAT |
| Deletion | NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs) | BRCA2 | Pathogenic | 13 | 32914898 | 32914904 | CTTAAATG | C | reviewed by expert panel | ClinGen:CA024006 |
| Insertion | NM_000059.4(BRCA2):c.6420_6421insA (p.Gly2141fs) | BRCA2 | Pathogenic | 13 | 32914912 | 32914913 | T | TA | reviewed by expert panel | ClinGen:CA024012 |
| Duplication | NM_000059.4(BRCA2):c.6422dup (p.Ser2142fs) | BRCA2 | Pathogenic | 13 | 32914912 | 32914913 | T | TG | reviewed by expert panel | ClinGen:CA024016 |
| Deletion | NM_000059.4(BRCA2):c.6428del (p.Ser2142_Ser2143insTer) | BRCA2 | Pathogenic | 13 | 32914920 | 32914920 | TC | T | reviewed by expert panel | ClinGen:CA024022 |
| Deletion | NM_000059.4(BRCA2):c.6437_6440del (p.Asn2146fs) | BRCA2 | Pathogenic | 13 | 32914928 | 32914931 | TAATC | T | reviewed by expert panel | ClinGen:CA024033 |
| Deletion | NM_000059.4(BRCA2):c.6444_6447del (p.Ile2149fs) | BRCA2 | Pathogenic | 13 | 32914936 | 32914939 | CTATT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):6672&base_change=del TATT,ClinGen:CA024046 |
| Deletion | NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer) | BRCA2 | Pathogenic | 13 | 32914936 | 32914937 | CTA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):6673&base_change=del AT,ClinGen:CA024050 |
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