Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
家族性膵がん
腫瘍性疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
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.411_414del (p.Leu138fs) | BRCA1 | Pathogenic | 17 | 41256166 | 41256169 | GTAGA | G | reviewed by expert panel | ClinGen:CA10590010 |
| Deletion | NM_007294.4(BRCA1):c.411del (p.Leu138fs) | BRCA1 | Pathogenic | 17 | 41256169 | 41256169 | GA | G | reviewed by expert panel | ClinGen:CA10590011 |
| Deletion | NM_007294.4(BRCA1):c.407del (p.Arg136fs) | BRCA1 | Pathogenic | 17 | 41256173 | 41256173 | TC | T | reviewed by expert panel | ClinGen:CA10590012 |
| Deletion | NM_007294.4(BRCA1):c.406del (p.Arg136fs) | BRCA1 | Pathogenic | 17 | 41256174 | 41256174 | CT | C | reviewed by expert panel | ClinGen:CA10590013 |
| Indel | NM_007294.4(BRCA1):c.385_386delinsC (p.Gly129fs) | BRCA1 | Pathogenic | 17 | 41256194 | 41256195 | CC | G | reviewed by expert panel | ClinGen:CA10590014 |
| Deletion | NM_007294.4(BRCA1):c.372del (p.Ile125fs) | BRCA1 | Pathogenic | 17 | 41256208 | 41256208 | TG | T | reviewed by expert panel | ClinGen:CA10590015 |
| Deletion | NM_007294.4(BRCA1):c.363_364del (p.Glu121fs) | BRCA1 | Pathogenic | 17 | 41256216 | 41256217 | ACT | A | reviewed by expert panel | ClinGen:CA10590016 |
| Duplication | NM_007294.4(BRCA1):c.361dup (p.Glu121fs) | BRCA1 | Pathogenic | 17 | 41256218 | 41256219 | T | TC | reviewed by expert panel | ClinGen:CA10590017 |
| Indel | NM_007294.4(BRCA1):c.357_358delinsT (p.Lys119fs) | BRCA1 | Pathogenic | 17 | 41256222 | 41256223 | CT | A | reviewed by expert panel | ClinGen:CA10590018 |
| single nucleotide variant | NM_007294.4(BRCA1):c.355A>T (p.Lys119Ter) | BRCA1 | Pathogenic | 17 | 41256225 | 41256225 | T | A | reviewed by expert panel | ClinGen:CA10590019 |
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