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.578C>G (p.Ser193Ter) | MLH1 | Pathogenic | 3 | 37053343 | 37053343 | C | G | reviewed by expert panel | ClinGen:CA011062 |
| single nucleotide variant | NM_000249.4(MLH1):c.586A>T (p.Lys196Ter) | MLH1 | Pathogenic | 3 | 37053351 | 37053351 | A | T | reviewed by expert panel | ClinGen:CA011080 |
| single nucleotide variant | NM_000249.4(MLH1):c.588+1G>T | MLH1 | Pathogenic | 3 | 37053354 | 37053354 | G | T | reviewed by expert panel | ClinGen:CA011106 |
| Deletion | NM_000249.4(MLH1):c.588+1del | MLH1 | Likely pathogenic | 3 | 37053354 | 37053354 | AG | A | reviewed by expert panel | ClinGen:CA011097 |
| single nucleotide variant | NM_000249.4(MLH1):c.588+2T>A | MLH1 | Likely pathogenic | 3 | 37053355 | 37053355 | T | A | reviewed by expert panel | ClinGen:CA011113 |
| single nucleotide variant | NM_000249.4(MLH1):c.588+5G>A | MLH1 | Pathogenic | 3 | 37053358 | 37053358 | G | A | reviewed by expert panel | ClinGen:CA011130 |
| Deletion | NM_000249.4(MLH1):c.588del (p.Lys196fs) | MLH1 | Pathogenic | 3 | 37053348 | 37053348 | TA | T | reviewed by expert panel | ClinGen:CA011147 |
| single nucleotide variant | NM_000249.4(MLH1):c.589-1G>T | MLH1 | Likely pathogenic | 3 | 37053501 | 37053501 | G | T | reviewed by expert panel | ClinGen:CA011182 |
| single nucleotide variant | NM_000249.4(MLH1):c.589-2A>G | MLH1 | Pathogenic | 3 | 37053500 | 37053500 | A | G | reviewed by expert panel | ClinGen:CA011189 |
| single nucleotide variant | NM_000249.4(MLH1):c.5C>A (p.Ser2Ter) | MLH1 | Pathogenic | 3 | 37035043 | 37035043 | C | A | reviewed by expert panel | ClinGen:CA011228 |
Copyright © National Center for Global Health and Medicine. All rights reserved.