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) | ||||||||||
| single nucleotide variant | NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37038124 | 37038124 | C | A | criteria provided, multiple submitters, no conflicts | - |
| Indel | NM_000249.4(MLH1):c.793_794delinsGT (p.Arg265Val) | MLH1 | Pathogenic | 3 | 37058999 | 37059000 | CG | GT | criteria provided, single submitter | - |
| single nucleotide variant | NM_000251.3(MSH2):c.366+2T>C | MSH2 | Pathogenic/Likely pathogenic | 2 | 47635696 | 47635696 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000251.3(MSH2):c.1277-2A>T | MSH2 | Pathogenic/Likely pathogenic | 2 | 47672685 | 47672685 | A | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000251.3(MSH2):c.1511-1G>A | MSH2 | Pathogenic/Likely pathogenic | 2 | 47693796 | 47693796 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000251.3(MSH2):c.2458+2T>C | MSH2 | Likely pathogenic | 2 | 47705660 | 47705660 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000251.3(MSH2):c.2634+2T>C | MSH2 | Pathogenic | 2 | 47708012 | 47708012 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000179.3(MSH6):c.3801+2T>C | MSH6 | Likely pathogenic | 2 | 48033499 | 48033499 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.380+1G>T | MLH1 | Pathogenic | 3 | 37045966 | 37045966 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.453+2T>G | MLH1 | Pathogenic | 3 | 37048556 | 37048556 | T | G | criteria provided, single submitter | - |
Copyright © Japan Institute for Health Security. All rights reserved.