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) | ||||||||||
| Indel | NM_007294.4(BRCA1):c.5331_5332+1delinsCAACAT | BRCA1 | Pathogenic | 17 | 41203079 | 41203081 | CCT | ATGTTG | reviewed by expert panel | ClinGen:CA10581595 |
| Deletion | NM_007294.4(BRCA1):c.5278-2del | BRCA1 | Pathogenic | 17 | 41203136 | 41203136 | CT | C | reviewed by expert panel | ClinGen:CA10581596 |
| Deletion | NM_007294.4(BRCA1):c.5181_5182del (p.Lys1727fs) | BRCA1 | Pathogenic | 17 | 41215361 | 41215362 | ATT | A | reviewed by expert panel | ClinGen:CA10581597 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4576G>T (p.Glu1526Ter) | BRCA1 | Pathogenic | 17 | 41226447 | 41226447 | C | A | reviewed by expert panel | ClinGen:CA10581598 |
| Deletion | NM_007294.4(BRCA1):c.4570del (p.Ser1524fs) | BRCA1 | Pathogenic | 17 | 41226453 | 41226453 | GA | G | reviewed by expert panel | ClinGen:CA10581599 |
| Duplication | NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter) | BRCA1 | Pathogenic | 17 | 41244614 | 41244615 | A | AT | reviewed by expert panel | ClinGen:CA10581600 |
| Duplication | NM_007294.4(BRCA1):c.2805dup (p.Asp936fs) | BRCA1 | Pathogenic | 17 | 41244742 | 41244743 | C | CT | reviewed by expert panel | ClinGen:CA10581601 |
| Insertion | NM_007294.4(BRCA1):c.2562_2563insGC (p.Gln855fs) | BRCA1 | Pathogenic | 17 | 41244985 | 41244986 | G | GGC | reviewed by expert panel | ClinGen:CA10581602 |
| Insertion | NM_007294.4(BRCA1):c.1881_1882insCC (p.Ser628fs) | BRCA1 | Pathogenic | 17 | 41245666 | 41245667 | T | TGG | reviewed by expert panel | ClinGen:CA10581603 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1150G>T (p.Glu384Ter) | BRCA1 | Pathogenic | 17 | 41246398 | 41246398 | C | A | reviewed by expert panel | ClinGen:CA10581604 |
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