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_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) | MSH6 | Likely pathogenic | 2 | 48028028 | 48028028 | A | G | reviewed by expert panel | ClinGen:CA069803 |
| Duplication | NM_000179.3(MSH6):c.3491dup (p.Cys1165fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48032100 | 48032101 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577289 |
| Duplication | NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48033448 | 48033449 | C | CATTA | criteria provided, multiple submitters, no conflicts | ClinGen:CA071953 |
| Deletion | NM_000249.4(MLH1):c.347del (p.Thr116fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37045932 | 37045932 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577302 |
| single nucleotide variant | NM_000249.4(MLH1):c.392C>G (p.Ser131Ter) | MLH1 | Pathogenic | 3 | 37048493 | 37048493 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577305 |
| single nucleotide variant | NM_000249.4(MLH1):c.307-2A>G | MLH1 | Pathogenic/Likely pathogenic | 3 | 37045890 | 37045890 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577306 |
| Deletion | NM_000249.4(MLH1):c.1029del (p.Phe344fs) | MLH1 | Pathogenic | 3 | 37061945 | 37061945 | AC | A | criteria provided, single submitter | ClinGen:CA10577311 |
| Insertion | NM_000249.4(MLH1):c.1520_1521insTA (p.Leu507fs) | MLH1 | Likely pathogenic | 3 | 37070385 | 37070386 | T | TTA | criteria provided, single submitter | ClinGen:CA10577312 |
| single nucleotide variant | NM_000249.4(MLH1):c.1698T>A (p.Tyr566Ter) | MLH1 | Pathogenic | 3 | 37083789 | 37083789 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577314 |
| Deletion | NM_000535.7(PMS2):c.2500_2501del (p.Met834fs) | PMS2 | Likely pathogenic | 7 | 6013118 | 6013119 | CAT | C | criteria provided, single submitter | ClinGen:CA10577330 |
Copyright © Japan Institute for Health Security. All rights reserved.