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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs) | BRCA1 | Pathogenic | 17 | 41234439 | 41234440 | G | GTTCT | reviewed by expert panel | ClinGen:CA198447 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter) | BRCA1 | Pathogenic | 17 | 41234439 | 41234439 | G | A | reviewed by expert panel | ClinGen:CA002775 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4357+1G>C | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41234420 | 41234420 | C | G | criteria provided, multiple submitters, no conflicts | Breast Cancer Information Core (BIC) (BRCA1):4476+1&base_change=G to C,ClinGen:CA002789 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4357+1G>T | BRCA1 | Pathogenic | 17 | 41234420 | 41234420 | C | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4476+1&base_change=G to T,ClinGen:CA002790 |
| Deletion | NM_007294.4(BRCA1):c.4357+1del | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41234420 | 41234420 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA002786 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4357+2T>C | BRCA1 | Pathogenic | 17 | 41234419 | 41234419 | A | G | criteria provided, single submitter | ClinGen:CA002791 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4370C>G (p.Ser1457Ter) | BRCA1 | Pathogenic | 17 | 41228619 | 41228619 | G | C | reviewed by expert panel | ClinGen:CA002802 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter) | BRCA1 | Pathogenic | 17 | 41228617 | 41228617 | G | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4491&base_change=C to T,ClinGen:CA002803 |
| Deletion | NM_007294.4(BRCA1):c.4373_4389del (p.Gln1458fs) | BRCA1 | Pathogenic | 17 | 41228600 | 41228616 | GGTATTCACTACTTTTCT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):4491&base_change=del 17,ClinGen:CA002804 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter) | BRCA1 | Pathogenic | 17 | 41228600 | 41228600 | G | T | reviewed by expert panel | ClinGen:CA002813 |
Copyright © Japan Institute for Health Security. All rights reserved.