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) | ||||||||||
| Duplication | NM_000249.4(MLH1):c.1491dup (p.Arg498fs) | MLH1 | Pathogenic | 3 | 37070354 | 37070355 | C | CG | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter) | MLH1 | Pathogenic | 3 | 37070411 | 37070411 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.1640T>G (p.Leu547Ter) | MLH1 | Pathogenic | 3 | 37081758 | 37081758 | T | G | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs) | MLH1 | Pathogenic | 3 | 37089017 | 37089030 | GCACCGCTCTTTGAC | G | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_000535.7(PMS2):c.2319dup (p.Lys774Ter) | PMS2 | Pathogenic | 7 | 6017344 | 6017345 | T | TA | criteria provided, multiple submitters, no conflicts | - |
| Indel | NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer) | PMS2 | Pathogenic | 7 | 6026519 | 6026522 | GCTA | CCT | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer) | PMS2 | Pathogenic | 7 | 6026533 | 6026533 | TA | T | criteria provided, multiple submitters, no conflicts | - |
| Indel | NM_000535.6(PMS2):c.1688_1732del45ins46 (p.?) | PMS2 | Pathogenic | 7 | 6026664 | 6026708 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter) | PMS2 | Pathogenic | 7 | 6026697 | 6026697 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000535.7(PMS2):c.1532del (p.Thr511fs) | PMS2 | Pathogenic | 7 | 6026864 | 6026864 | CG | C | criteria provided, multiple submitters, no conflicts | - |
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