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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter) | BRCA1 | Pathogenic | 17 | 41246830 | 41246830 | G | A | reviewed by expert panel | ClinGen:CA10589999 |
| Deletion | NM_007294.4(BRCA1):c.707del (p.Thr236fs) | BRCA1 | Pathogenic | 17 | 41246841 | 41246841 | AG | A | reviewed by expert panel | ClinGen:CA10590000 |
| Deletion | NM_007294.4(BRCA1):c.704del (p.Asn235fs) | BRCA1 | Pathogenic | 17 | 41246844 | 41246844 | AT | A | reviewed by expert panel | ClinGen:CA10590001 |
| Deletion | NM_007294.4(BRCA1):c.689_692del (p.Glu230fs) | BRCA1 | Pathogenic | 17 | 41246856 | 41246859 | CGTCT | C | reviewed by expert panel | ClinGen:CA10590002 |
| Deletion | NM_007294.4(BRCA1):c.531del (p.Val178fs) | BRCA1 | Pathogenic | 17 | 41251808 | 41251808 | CA | C | reviewed by expert panel | ClinGen:CA10590003 |
| Deletion | NM_007294.4(BRCA1):c.518del (p.Pro173fs) | BRCA1 | Pathogenic | 17 | 41251821 | 41251821 | AG | A | reviewed by expert panel | ClinGen:CA10590004 |
| single nucleotide variant | NM_007294.4(BRCA1):c.502A>T (p.Lys168Ter) | BRCA1 | Pathogenic | 17 | 41251837 | 41251837 | T | A | reviewed by expert panel | ClinGen:CA10590005 |
| Deletion | NM_007294.4(BRCA1):c.500_501del (p.Thr167fs) | BRCA1 | Pathogenic | 17 | 41251838 | 41251839 | TTG | T | reviewed by expert panel | ClinGen:CA10590006 |
| Duplication | NM_007294.4(BRCA1):c.431dup (p.Asn144fs) | BRCA1 | Pathogenic | 17 | 41256148 | 41256149 | A | AT | reviewed by expert panel | ClinGen:CA10590008 |
| Duplication | NM_007294.4(BRCA1):c.418dup (p.Ser140fs) | BRCA1 | Pathogenic | 17 | 41256161 | 41256162 | C | CT | reviewed by expert panel | ClinGen:CA10590009 |
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