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.958G>T (p.Glu320Ter) | MLH1 | Pathogenic | 3 | 37061874 | 37061874 | G | T | criteria provided, single submitter | ClinGen:CA352049038 |
| single nucleotide variant | NM_000249.4(MLH1):c.1051G>T (p.Gly351Ter) | MLH1 | Pathogenic | 3 | 37067140 | 37067140 | G | T | criteria provided, single submitter | ClinGen:CA352052045 |
| single nucleotide variant | NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro) | MLH1 | Likely pathogenic | 3 | 37089032 | 37089032 | T | C | criteria provided, single submitter | ClinGen:CA352064360 |
| Duplication | NM_000535.7(PMS2):c.2382dup (p.Gly795fs) | PMS2 | Pathogenic | 7 | 6017281 | 6017282 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655959 |
| single nucleotide variant | NM_000535.7(PMS2):c.2445+1G>A | PMS2 | Pathogenic/Likely pathogenic | 7 | 6017218 | 6017218 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA366735529 |
| single nucleotide variant | NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter) | PMS2 | Pathogenic | 7 | 6018310 | 6018310 | A | T | criteria provided, single submitter | ClinGen:CA366736899 |
| single nucleotide variant | NM_000535.7(PMS2):c.2296A>T (p.Lys766Ter) | PMS2 | Pathogenic | 7 | 6017368 | 6017368 | T | A | criteria provided, single submitter | ClinGen:CA366736101 |
| single nucleotide variant | NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) | PMS2 | Pathogenic | 7 | 6026790 | 6026790 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA366741495 |
| Duplication | NM_000535.7(PMS2):c.1571dup (p.Gly525fs) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6026824 | 6026825 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655976 |
| single nucleotide variant | NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6026925 | 6026925 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA366741867 |
Copyright © National Center for Global Health and Medicine. All rights reserved.