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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.3333_3336del (p.Gln1111fs) | BRCA1 | Pathogenic | 17 | 41244212 | 41244215 | ATTCT | A | reviewed by expert panel | ClinGen:CA002160 |
| Deletion | NM_007294.4(BRCA1):c.3333del (p.Glu1112fs) | BRCA1 | Pathogenic | 17 | 41244215 | 41244215 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3452&base_change=del A,ClinGen:CA002161 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3339T>G (p.Tyr1113Ter) | BRCA1 | Pathogenic | 17 | 41244209 | 41244209 | A | C | reviewed by expert panel | ClinGen:CA002162 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3340G>T (p.Glu1114Ter) | BRCA1 | Pathogenic | 17 | 41244208 | 41244208 | C | A | reviewed by expert panel | ClinGen:CA002163 |
| Deletion | NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) | BRCA1 | Pathogenic | 17 | 41244203 | 41244206 | CTTCT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3461&base_change=del AGAA,ClinGen:CA002164 |
| Deletion | NM_007294.4(BRCA1):c.3343del (p.Glu1115fs) | BRCA1 | Pathogenic | 17 | 41244205 | 41244205 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3462&base_change=del G,ClinGen:CA002165 |
| Deletion | NM_007294.4(BRCA1):c.3354_3355del (p.Gln1118fs) | BRCA1 | Pathogenic | 17 | 41244193 | 41244194 | GTC | G | reviewed by expert panel | ClinGen:CA002174 |
| Deletion | NM_007294.4(BRCA1):c.3359_3360del (p.Val1120fs) | BRCA1 | Pathogenic | 17 | 41244188 | 41244189 | TAA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3478&base_change=del TT,ClinGen:CA002180 |
| Deletion | NM_007294.4(BRCA1):c.3359_3363del (p.Val1120fs) | BRCA1 | Pathogenic | 17 | 41244185 | 41244189 | TATTAA | T | reviewed by expert panel | ClinGen:CA002181 |
| Deletion | NM_007294.4(BRCA1):c.3362del (p.Asn1121fs) | BRCA1 | Pathogenic | 17 | 41244186 | 41244186 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3481&base_change=del A,ClinGen:CA002183 |
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