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.1732-2A>G | MLH1 | Likely pathogenic | 3 | 37089008 | 37089008 | A | G | reviewed by expert panel | ClinGen:CA006625 |
| single nucleotide variant | NM_000249.4(MLH1):c.1732-2A>T | MLH1 | Pathogenic | 3 | 37089008 | 37089008 | A | T | reviewed by expert panel | ClinGen:CA006632 |
| Deletion | NM_000249.3(MLH1):c.1732-?_(*193_?)del | MLH1 | Pathogenic | 3 | 37089010 | 37092337 | na | na | reviewed by expert panel | - |
| single nucleotide variant | NM_000249.4(MLH1):c.1745T>C (p.Leu582Pro) | MLH1 | Pathogenic | 3 | 37089023 | 37089023 | T | C | reviewed by expert panel | ClinGen:CA006717 |
| Deletion | NM_000249.4(MLH1):c.1745del (p.Leu582fs) | MLH1 | Pathogenic | 3 | 37089023 | 37089023 | CT | C | reviewed by expert panel | ClinGen:CA006709 |
| Deletion | NM_000249.4(MLH1):c.1748_1749del (p.Leu582_Phe583insTer) | MLH1 | Pathogenic | 3 | 37089025 | 37089026 | CTT | C | reviewed by expert panel | ClinGen:CA006723 |
| Deletion | NM_000249.4(MLH1):c.1749del (p.Phe583fs) | MLH1 | Pathogenic | 3 | 37089025 | 37089025 | CT | C | reviewed by expert panel | ClinGen:CA006742 |
| Deletion | NM_000249.4(MLH1):c.1758del (p.Met587fs) | MLH1 | Pathogenic | 3 | 37089035 | 37089035 | GC | G | reviewed by expert panel | ClinGen:CA006789 |
| Duplication | NM_000249.4(MLH1):c.1758dup (p.Met587fs) | MLH1 | Pathogenic | 3 | 37089034 | 37089035 | G | GC | reviewed by expert panel | ClinGen:CA006780 |
| Duplication | NM_000249.4(MLH1):c.175dup (p.Ile59fs) | MLH1 | Pathogenic | 3 | 37038167 | 37038168 | G | GA | reviewed by expert panel | ClinGen:CA330805 |
Copyright © National Center for Global Health and Medicine. All rights reserved.