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。
リンチ症候群
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) | ||||||||||
| Deletion | NM_000249.4(MLH1):c.404_407del (p.Leu135fs) | MLH1 | Pathogenic | 3 | 37048505 | 37048508 | CTGAA | C | reviewed by expert panel | ClinGen:CA010284 |
| Deletion | NM_000249.4(MLH1):c.420del (p.Lys140fs) | MLH1 | Pathogenic | 3 | 37048519 | 37048519 | TA | T | reviewed by expert panel | ClinGen:CA010324 |
| Duplication | NM_000249.4(MLH1):c.428dup (p.Gly144fs) | MLH1 | Pathogenic | 3 | 37048528 | 37048529 | G | GC | reviewed by expert panel | ClinGen:CA010357 |
| single nucleotide variant | NM_000249.4(MLH1):c.436C>T (p.Gln146Ter) | MLH1 | Pathogenic | 3 | 37048537 | 37048537 | C | T | reviewed by expert panel | ClinGen:CA010388 |
| single nucleotide variant | NM_000249.4(MLH1):c.445C>T (p.Gln149Ter) | MLH1 | Pathogenic | 3 | 37048546 | 37048546 | C | T | reviewed by expert panel | ClinGen:CA010427 |
| Duplication | NM_000249.4(MLH1):c.44dup (p.Val16fs) | MLH1 | Pathogenic | 3 | 37035081 | 37035082 | G | GT | reviewed by expert panel | ClinGen:CA010417 |
| single nucleotide variant | NM_000249.4(MLH1):c.453+1G>T | MLH1 | Likely pathogenic | 3 | 37048555 | 37048555 | G | T | reviewed by expert panel | ClinGen:CA010483 |
| single nucleotide variant | NM_000249.4(MLH1):c.453+2T>C | MLH1 | Pathogenic | 3 | 37048556 | 37048556 | T | C | reviewed by expert panel | ClinGen:CA010498 |
| single nucleotide variant | NM_000249.4(MLH1):c.454-13A>G | MLH1 | Likely pathogenic | 3 | 37050292 | 37050292 | A | G | reviewed by expert panel | ClinGen:CA010560 |
| single nucleotide variant | NM_000249.4(MLH1):c.454-1G>T | MLH1 | Likely pathogenic | 3 | 37050304 | 37050304 | G | T | reviewed by expert panel | ClinGen:CA010579 |
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