Knowledge base for genomic medicine in Japanese
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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_000179.3(MSH6):c.3957dup (p.Ala1320fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48033742 | 48033743 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA072375 |
| single nucleotide variant | NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter) | MSH6 | Pathogenic | 2 | 48033753 | 48033753 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA346761548 |
| Duplication | NM_000249.3(MLH1):c.307-?_1667+?dup | MLH1 | Pathogenic | 3 | 37045892 | 37081785 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000249.3(MLH1):c.381-?_677+?del | MLH1 | Pathogenic | 3 | 37048482 | 37053590 | na | na | criteria provided, single submitter | - |
| Duplication | NM_000249.3(MLH1):c.546-?_1731+?dup | MLH1 | Likely pathogenic | 3 | 37053311 | 37083822 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_000249.4(MLH1):c.306+2T>G | MLH1 | Likely pathogenic | 3 | 37042546 | 37042546 | T | G | criteria provided, single submitter | ClinGen:CA352036702 |
| Deletion | NM_000249.4(MLH1):c.456_545+2del | MLH1 | Pathogenic | 3 | 37050302 | 37050393 | TCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGG | T | criteria provided, single submitter | ClinGen:CA645372729 |
| Deletion | NM_000249.4(MLH1):c.492del (p.Ala165fs) | MLH1 | Pathogenic | 3 | 37050340 | 37050340 | GA | G | criteria provided, single submitter | ClinGen:CA645372730 |
| Deletion | NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer) | MLH1 | Pathogenic | 3 | 37055998 | 37056000 | ACTC | A | criteria provided, single submitter | ClinGen:CA645372732 |
| single nucleotide variant | NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) | MLH1 | Likely pathogenic | 3 | 37059000 | 37059000 | G | C | reviewed by expert panel | ClinGen:CA352045762 |
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