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) | ||||||||||
| Deletion | NM_000251.3(MSH2):c.1176_1177del (p.Lys393fs) | MSH2 | Pathogenic | 2 | 47656979 | 47656980 | AAG | A | criteria provided, single submitter | ClinGen:CA658655664 |
| single nucleotide variant | NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter) | MSH6 | Pathogenic | 2 | 48026911 | 48026911 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA346749280 |
| Deletion | NM_000249.4(MLH1):c.71_75del (p.Val24fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37035109 | 37035113 | GTTATC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655779 |
| single nucleotide variant | NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter) | MLH1 | Pathogenic | 3 | 37055998 | 37055998 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA352044147 |
| single nucleotide variant | NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37067386 | 37067386 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352053247 |
| single nucleotide variant | NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37081785 | 37081785 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA352060789 |
| single nucleotide variant | NM_000535.7(PMS2):c.2275+1G>A | PMS2 | Pathogenic | 7 | 6018226 | 6018226 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA366736386 |
| single nucleotide variant | NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter) | PMS2 | Pathogenic | 7 | 6026409 | 6026409 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA366738938 |
| single nucleotide variant | NM_000535.7(PMS2):c.3G>A (p.Met1Ile) | PMS2 | Pathogenic | 7 | 6048648 | 6048648 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA366745251 |
| Deletion | NC_000002.12:g.(?_47403186)_(47410378_?)del | MSH2 | Pathogenic | 2 | 47630325 | 47637517 | na | na | criteria provided, single submitter | - |
Copyright © Japan Institute for Health Security. All rights reserved.