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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.2776_2777del (p.Thr926fs) | BRCA1 | Pathogenic | 17 | 41244771 | 41244772 | AGT | A | reviewed by expert panel | ClinGen:CA10589814 |
| Insertion | NM_007294.4(BRCA1):c.2776_2777insTA (p.Thr926fs) | BRCA1 | Pathogenic | 17 | 41244771 | 41244772 | G | GTA | reviewed by expert panel | ClinGen:CA10589815 |
| Indel | NM_007294.4(BRCA1):c.2753_2755delinsCA (p.Lys918fs) | BRCA1 | Pathogenic | 17 | 41244793 | 41244795 | GCT | TG | reviewed by expert panel | ClinGen:CA10589816 |
| Deletion | NM_007294.4(BRCA1):c.2751del (p.Lys918fs) | BRCA1 | Pathogenic | 17 | 41244797 | 41244797 | TG | T | reviewed by expert panel | ClinGen:CA10589817 |
| Deletion | NM_007294.4(BRCA1):c.2750del (p.Ile917fs) | BRCA1 | Pathogenic | 17 | 41244798 | 41244798 | GA | G | reviewed by expert panel | ClinGen:CA10589818 |
| Deletion | NM_007294.4(BRCA1):c.2710del (p.Glu904fs) | BRCA1 | Pathogenic | 17 | 41244838 | 41244838 | TC | T | reviewed by expert panel | ClinGen:CA10589820 |
| Deletion | NM_007294.4(BRCA1):c.2704del (p.Glu902fs) | BRCA1 | Pathogenic | 17 | 41244844 | 41244844 | TC | T | reviewed by expert panel | ClinGen:CA10589821 |
| Deletion | NM_007294.4(BRCA1):c.2694del (p.Val899fs) | BRCA1 | Pathogenic | 17 | 41244854 | 41244854 | CT | C | reviewed by expert panel | ClinGen:CA10589822 |
| Deletion | NM_007294.4(BRCA1):c.2687_2693del (p.Ser896fs) | BRCA1 | Pathogenic | 17 | 41244855 | 41244861 | TTTTGGAC | T | reviewed by expert panel | ClinGen:CA10589823 |
| Deletion | NM_007294.4(BRCA1):c.2683_2693del (p.Gln895fs) | BRCA1 | Pathogenic | 17 | 41244855 | 41244865 | TTTTGGACTTTG | T | reviewed by expert panel | ClinGen:CA10589824 |
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