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_000249.4(MLH1):c.440G>A (p.Gly147Glu) | MLH1 | Likely pathogenic | 3 | 37048541 | 37048541 | G | A | reviewed by expert panel | - |
| Deletion | NM_000249.4(MLH1):c.845_858del (p.Ala282fs) | MLH1 | Pathogenic | 3 | 37059051 | 37059064 | GCCTATTTGCCCAAA | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000249.4(MLH1):c.885-1G>A | MLH1 | Pathogenic/Likely pathogenic | 3 | 37061800 | 37061800 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter) | MLH1 | Pathogenic | 3 | 37067368 | 37067368 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NC_000007.14:g.(?_5977578)_(5983001_?)del | PMS2 | Pathogenic | 7 | 6017209 | 6022632 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5991963)_(6002646_?)del | PMS2 | Pathogenic | 7 | 6031594 | 6042277 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5997316)_(5997433_?)del | PMS2 | Pathogenic | 7 | 6036947 | 6037064 | na | na | criteria provided, single submitter | - |
| Indel | NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC | PMS2 | Likely pathogenic | 7 | 6022623 | 6022626 | CTGC | GTGT | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.1027del (p.Ile343fs) | PMS2 | Pathogenic | 7 | 6029548 | 6029548 | AT | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000535.7(PMS2):c.251-1G>T | PMS2 | Pathogenic/Likely pathogenic | 7 | 6043424 | 6043424 | C | A | criteria provided, multiple submitters, no conflicts | - |
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