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_007294.4(BRCA1):c.1379del (p.Ile460fs) | BRCA1 | Pathogenic | 17 | 41246169 | 41246169 | TA | T | reviewed by expert panel | ClinGen:CA10589941 |
| Duplication | NM_007294.4(BRCA1):c.1378dup (p.Ile460fs) | BRCA1 | Pathogenic | 17 | 41246169 | 41246170 | A | AT | reviewed by expert panel | ClinGen:CA10589942 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1375A>T (p.Lys459Ter) | BRCA1 | Pathogenic | 17 | 41246173 | 41246173 | T | A | reviewed by expert panel | ClinGen:CA10589943 |
| Deletion | NM_007294.4(BRCA1):c.1354del (p.Ser451_Val452insTer) | BRCA1 | Pathogenic | 17 | 41246194 | 41246194 | AC | A | reviewed by expert panel | ClinGen:CA10589944 |
| Deletion | NM_007294.4(BRCA1):c.1347del (p.Lys450fs) | BRCA1 | Pathogenic | 17 | 41246201 | 41246201 | TG | T | reviewed by expert panel | ClinGen:CA10589945 |
| Deletion | NM_007294.4(BRCA1):c.1327_1345del (p.Lys443fs) | BRCA1 | Pathogenic | 17 | 41246203 | 41246221 | GAGTGAACTCTTTCACTTTT | G | reviewed by expert panel | ClinGen:CA10589946 |
| Deletion | NM_007294.4(BRCA1):c.1336del (p.Arg446fs) | BRCA1 | Pathogenic | 17 | 41246212 | 41246212 | CT | C | reviewed by expert panel | ClinGen:CA10589947 |
| Deletion | NM_007294.4(BRCA1):c.1333del (p.Glu445fs) | BRCA1 | Pathogenic | 17 | 41246215 | 41246215 | TC | T | reviewed by expert panel | ClinGen:CA10589948 |
| Indel | NM_007294.4(BRCA1):c.1303_1309delinsAAAGT (p.Asp435fs) | BRCA1 | Pathogenic | 17 | 41246239 | 41246245 | GAGGATC | ACTTT | reviewed by expert panel | ClinGen:CA10589949 |
| Duplication | NM_007294.4(BRCA1):c.1288dup (p.Asp430fs) | BRCA1 | Pathogenic | 17 | 41246259 | 41246260 | T | TC | reviewed by expert panel | ClinGen:CA10589950 |
Copyright © Japan Institute for Health Security. All rights reserved.