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.2745dup (p.Asn916Ter) | BRCA1 | Pathogenic | 17 | 41244802 | 41244803 | T | TA | reviewed by expert panel | ClinGen:CA327837 |
| Duplication | NM_007294.4(BRCA1):c.2749dup (p.Ile917fs) | BRCA1 | Pathogenic | 17 | 41244798 | 41244799 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2867&base_change=ins A,ClinGen:CA001809 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter) | BRCA1 | Pathogenic | 17 | 41244787 | 41244787 | G | A | reviewed by expert panel | ClinGen:CA001817 |
| Deletion | NM_007294.4(BRCA1):c.2762del (p.Gln921fs) | BRCA1 | Pathogenic | 17 | 41244786 | 41244786 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2881&base_change=del A,ClinGen:CA001818 |
| Deletion | NM_007294.4(BRCA1):c.2766del (p.Val923fs) | BRCA1 | Pathogenic | 17 | 41244782 | 41244782 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2885&base_change=del A,ClinGen:CA001823 |
| Deletion | NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs) | BRCA1 | Pathogenic | 17 | 41244778 | 41244781 | TTAAC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2886&base_change=del GTTA,ClinGen:CA001824 |
| Deletion | NM_007294.4(BRCA1):c.2798_2799del (p.Gly933fs) | BRCA1 | Pathogenic | 17 | 41244749 | 41244750 | GAC | G | reviewed by expert panel | ClinGen:CA001833 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) | BRCA1 | Pathogenic | 17 | 41244748 | 41244748 | G | A | reviewed by expert panel | ClinGen:CA001836 |
| Deletion | NM_007294.4(BRCA1):c.2805del (p.Asp936fs) | BRCA1 | Pathogenic | 17 | 41244743 | 41244743 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2924&base_change=del A,ClinGen:CA001837 |
| Deletion | NM_007294.4(BRCA1):c.2808_2811del (p.Lys937fs) | BRCA1 | Pathogenic | 17 | 41244737 | 41244740 | GCTTA | G | reviewed by expert panel | ClinGen:CA001840 |
Copyright © Japan Institute for Health Security. All rights reserved.