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) | ||||||||||
| Duplication | NM_000059.4(BRCA2):c.715dup (p.Ser239fs) | BRCA2 | Pathogenic | 13 | 32905086 | 32905087 | G | GA | reviewed by expert panel | ClinGen:CA10589042 |
| Deletion | NM_000059.4(BRCA2):c.723del (p.Asn243fs) | BRCA2 | Pathogenic | 13 | 32905097 | 32905097 | AG | A | reviewed by expert panel | ClinGen:CA10589043 |
| Duplication | NM_000059.4(BRCA2):c.728dup (p.Asn243fs) | BRCA2 | Pathogenic | 13 | 32905097 | 32905098 | G | GA | reviewed by expert panel | ClinGen:CA10589044 |
| Insertion | NM_000059.4(BRCA2):c.729_730insC (p.Asp244fs) | BRCA2 | Pathogenic | 13 | 32905103 | 32905104 | T | TC | reviewed by expert panel | ClinGen:CA10589045 |
| Duplication | NM_000059.4(BRCA2):c.729dup (p.Asp244Ter) | BRCA2 | Pathogenic | 13 | 32905102 | 32905103 | A | AT | reviewed by expert panel | ClinGen:CA10589046 |
| Deletion | NM_000059.4(BRCA2):c.736_755del (p.Phe246fs) | BRCA2 | Pathogenic | 13 | 32905107 | 32905126 | TAGATTTATCGCTTCTGTGAC | T | reviewed by expert panel | ClinGen:CA10589047 |
| Deletion | NM_000059.4(BRCA2):c.739_740del (p.Ile247fs) | BRCA2 | Pathogenic | 13 | 32905112 | 32905113 | TTA | T | reviewed by expert panel | ClinGen:CA10589048 |
| Deletion | NM_000059.4(BRCA2):c.743del (p.Ala248fs) | BRCA2 | Pathogenic | 13 | 32905117 | 32905117 | GC | G | reviewed by expert panel | ClinGen:CA10589049 |
| Deletion | NM_000059.4(BRCA2):c.757_758del (p.Asp252_Ser253insTer) | BRCA2 | Pathogenic | 13 | 32905131 | 32905132 | CAG | C | reviewed by expert panel | ClinGen:CA10589050 |
| Indel | NM_000059.3(BRCA2):c.765_770delinsAAACAAT (p.Asn255fs) | BRCA2 | Pathogenic | 13 | 32905139 | 32905144 | CACAAA | AAACAAT | reviewed by expert panel | ClinGen:CA10589051 |
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