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遺伝性乳がん・卵巣がん症候群
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.3323_3326del (p.Ile1108fs) | BRCA1 | Pathogenic | 17 | 41244222 | 41244225 | TTTTA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3439&base_change=del AAAT,ClinGen:CA002140 |
| Deletion | NM_007294.4(BRCA1):c.3325_3329del (p.Lys1109fs) | BRCA1 | Pathogenic | 17 | 41244219 | 41244223 | CTTTTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3444&base_change=del AAAAA,ClinGen:CA002143 |
| Deletion | NM_007294.4(BRCA1):c.3326_3329del (p.Lys1109fs) | BRCA1 | Pathogenic | 17 | 41244219 | 41244222 | CTTTT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3445&base_change=del AAAA,ClinGen:CA002144 |
| Deletion | NM_007294.4(BRCA1):c.3329_3330del (p.Lys1110fs) | BRCA1 | Pathogenic | 17 | 41244218 | 41244219 | GCT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3448&base_change=del AG,ClinGen:CA002150 |
| Deletion | NM_007294.4(BRCA1):c.3329del (p.Lys1110fs) | BRCA1 | Pathogenic | 17 | 41244219 | 41244219 | CT | C | reviewed by expert panel | ClinGen:CA002153 |
| Duplication | NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs) | BRCA1 | Pathogenic | 17 | 41244218 | 41244219 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3448&base_change=ins A,ClinGen:CA002151 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3331C>T (p.Gln1111Ter) | BRCA1 | Pathogenic | 17 | 41244217 | 41244217 | G | A | reviewed by expert panel | ClinGen:CA002158 |
| 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 |
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