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遺伝性乳がん・卵巣がん症候群
腫瘍性疾患
Excelでダウンロード表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.3183del (p.Ile1061fs) | BRCA1 | Pathogenic | 17 | 41244365 | 41244365 | CT | C | reviewed by expert panel | ClinGen:CA002074 |
| Indel | NM_007294.4(BRCA1):c.3188_3189delinsG (p.Gly1062_Ser1063insTer) | BRCA1 | Pathogenic | 17 | 41244359 | 41244360 | GG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3307&base_change=del CC ins G,ClinGen:CA002076 |
| Duplication | NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs) | BRCA1 | Pathogenic | 17 | 41244354 | 41244355 | T | TC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3312&base_change=ins G,ClinGen:CA002078 |
| Duplication | NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs) | BRCA1 | Pathogenic | 17 | 41244336 | 41244337 | T | TC | reviewed by expert panel | ClinGen:CA327859 |
| Deletion | NM_007294.4(BRCA1):c.3214del (p.Glu1071_Leu1072insTer) | BRCA1 | Pathogenic | 17 | 41244334 | 41244334 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3333&base_change=del C,ClinGen:CA002084 |
| Deletion | NM_007294.4(BRCA1):c.321del (p.Phe107fs) | BRCA1 | Pathogenic | 17 | 41256259 | 41256259 | CA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):440&base_change=del T,ClinGen:CA002085 |
| Deletion | NM_007294.4(BRCA1):c.3226del (p.Arg1076fs) | BRCA1 | Pathogenic | 17 | 41244322 | 41244322 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3345&base_change=del A,ClinGen:CA002089 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3239T>A (p.Leu1080Ter) | BRCA1 | Pathogenic | 17 | 41244309 | 41244309 | A | T | reviewed by expert panel | ClinGen:CA002097 |
| Duplication | NM_007294.4(BRCA1):c.3253dup (p.Arg1085fs) | BRCA1 | Pathogenic | 17 | 41244294 | 41244295 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3372&base_change=ins A,ClinGen:CA002101 |
| Duplication | NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs) | BRCA1 | Pathogenic | 17 | 41244292 | 41244293 | A | ATC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3374&base_change=ins GA,ClinGen:CA002103 |
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