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。
ウィルムス腫瘍
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.5655_5656dup (p.Gln1886fs) | BRCA2 | Pathogenic | 13 | 32914146 | 32914147 | G | GCC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):5883&base_change=ins CC,ClinGen:CA022865 |
| Deletion | NM_000059.4(BRCA2):c.5778del (p.Ser1926fs) | BRCA2 | Pathogenic | 13 | 32914270 | 32914270 | GT | G | reviewed by expert panel | ClinGen:CA10586543 |
| single nucleotide variant | NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter) | BRCA2 | Pathogenic | 13 | 32914271 | 32914271 | G | T | reviewed by expert panel | ClinGen:CA10586544 |
| Deletion | NM_000059.4(BRCA2):c.5891del (p.Lys1964fs) | BRCA2 | Pathogenic | 13 | 32914382 | 32914382 | GA | G | reviewed by expert panel | ClinGen:CA023338,Breast Cancer Information Core (BIC) (BRCA2):6118&base_change=del A |
| Insertion | NM_000059.4(BRCA2):c.5935_5936insT (p.Ser1979fs) | BRCA2 | Pathogenic | 13 | 32914427 | 32914428 | A | AT | reviewed by expert panel | ClinGen:CA10586545 |
| single nucleotide variant | NM_000059.4(BRCA2):c.5966C>A (p.Ser1989Ter) | BRCA2 | Pathogenic | 13 | 32914458 | 32914458 | C | A | reviewed by expert panel | ClinGen:CA10586546 |
| Deletion | NM_000059.4(BRCA2):c.5969del (p.Asp1990fs) | BRCA2 | Pathogenic | 13 | 32914461 | 32914461 | GA | G | reviewed by expert panel | ClinGen:CA10586547 |
| single nucleotide variant | NM_000059.4(BRCA2):c.5978T>G (p.Leu1993Ter) | BRCA2 | Pathogenic | 13 | 32914470 | 32914470 | T | G | reviewed by expert panel | ClinGen:CA6940920 |
| Deletion | NM_000059.4(BRCA2):c.5993_5994del (p.Gln1998fs) | BRCA2 | Pathogenic | 13 | 32914485 | 32914486 | CAA | C | reviewed by expert panel | ClinGen:CA10586548 |
| Deletion | NM_000059.4(BRCA2):c.6008del (p.Ile2003fs) | BRCA2 | Pathogenic | 13 | 32914500 | 32914500 | AT | A | reviewed by expert panel | ClinGen:CA10586549 |
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