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_000059.4(BRCA2):c.4983T>G (p.Tyr1661Ter) | BRCA2 | Pathogenic | 13 | 32913475 | 32913475 | T | G | reviewed by expert panel | ClinGen:CA16616709 |
| Deletion | NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs) | BRCA1 | Pathogenic | 17 | 41197753 | 41197753 | GT | G | reviewed by expert panel | ClinGen:CA16616882 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) | BRCA1 | Pathogenic | 17 | 41203103 | 41203103 | C | A | reviewed by expert panel | ClinGen:CA10590929 |
| Deletion | NM_007294.4(BRCA1):c.4972del (p.Thr1658fs) | BRCA1 | Pathogenic | 17 | 41222959 | 41222959 | GT | G | reviewed by expert panel | ClinGen:CA16616883 |
| Deletion | NM_007294.4(BRCA1):c.3835del (p.Ala1279fs) | BRCA1 | Pathogenic | 17 | 41243713 | 41243713 | GC | G | reviewed by expert panel | ClinGen:CA16616884 |
| Deletion | NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs) | BRCA1 | Pathogenic | 17 | 41243900 | 41243904 | ATAAGT | A | reviewed by expert panel | ClinGen:CA16616885 |
| Duplication | NM_007294.4(BRCA1):c.2257dup (p.Ser753fs) | BRCA1 | Pathogenic | 17 | 41245290 | 41245291 | C | CT | reviewed by expert panel | ClinGen:CA16616886 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2185G>T (p.Glu729Ter) | BRCA1 | Pathogenic | 17 | 41245363 | 41245363 | C | A | reviewed by expert panel | ClinGen:CA10597633 |
| Duplication | NM_007294.4(BRCA1):c.1674dup (p.Gly559fs) | BRCA1 | Pathogenic | 17 | 41245873 | 41245874 | C | CT | reviewed by expert panel | ClinGen:CA16616887 |
| Deletion | NM_007294.4(BRCA1):c.1434_1435del (p.Glu479fs) | BRCA1 | Pathogenic | 17 | 41246113 | 41246114 | TCA | T | reviewed by expert panel | ClinGen:CA16616888 |
Copyright © Japan Institute for Health Security. All rights reserved.