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。
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_000059.4(BRCA2):c.1164_1168del (p.Pro389fs) | BRCA2 | Pathogenic | 13 | 32906777 | 32906781 | TGTACC | T | reviewed by expert panel | ClinGen:CA10586490 |
| Deletion | NM_000059.4(BRCA2):c.1187_1200del (p.Ser396fs) | BRCA2 | Pathogenic | 13 | 32906801 | 32906814 | GTCTCAACTAACCCT | G | reviewed by expert panel | ClinGen:CA10586491 |
| Deletion | NM_000059.4(BRCA2):c.1226del (p.Glu409fs) | BRCA2 | Pathogenic | 13 | 32906841 | 32906841 | GA | G | reviewed by expert panel | ClinGen:CA10586492 |
| Deletion | NM_000059.4(BRCA2):c.1311_1314del (p.Lys437fs) | BRCA2 | Pathogenic | 13 | 32906926 | 32906929 | AAGAT | A | reviewed by expert panel | ClinGen:CA10586494 |
| single nucleotide variant | NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter) | BRCA2 | Pathogenic | 13 | 32906940 | 32906940 | C | G | reviewed by expert panel | ClinGen:CA10586495 |
| Deletion | NM_000059.4(BRCA2):c.1507_1508del (p.Lys503fs) | BRCA2 | Pathogenic | 13 | 32907119 | 32907120 | CAA | C | reviewed by expert panel | ClinGen:CA10586496 |
| Insertion | NM_000059.4(BRCA2):c.1704_1705insG (p.Gln569fs) | BRCA2 | Pathogenic | 13 | 32907319 | 32907320 | A | AG | reviewed by expert panel | ClinGen:CA10586497 |
| Deletion | NM_000059.4(BRCA2):c.1989del (p.Phe663fs) | BRCA2 | Pathogenic | 13 | 32910478 | 32910478 | CT | C | reviewed by expert panel | ClinGen:CA10586498 |
| Deletion | NM_000059.4(BRCA2):c.2085_2089del (p.Glu696fs) | BRCA2 | Pathogenic | 13 | 32910575 | 32910579 | TAAGGA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):2312&base_change=del AGGAA,ClinGen:CA014280 |
| Deletion | NM_000059.4(BRCA2):c.2226del (p.Gln742fs) | BRCA2 | Pathogenic | 13 | 32910717 | 32910717 | CA | C | reviewed by expert panel | ClinGen:CA10586499 |
Copyright © Japan Institute for Health Security. All rights reserved.