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) | ||||||||||
| Deletion | NM_000249.4(MLH1):c.1668del (p.Ser556fs) | MLH1 | Pathogenic | 3 | 37083759 | 37083759 | GT | G | reviewed by expert panel | ClinGen:CA006343 |
| single nucleotide variant | NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter) | MLH1 | Pathogenic | 3 | 37083760 | 37083760 | G | T | reviewed by expert panel | ClinGen:CA006349 |
| single nucleotide variant | NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter) | MLH1 | Pathogenic | 3 | 37083763 | 37083763 | G | T | reviewed by expert panel | ClinGen:CA006355 |
| single nucleotide variant | NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter) | MLH1 | Pathogenic | 3 | 37083774 | 37083774 | C | G | reviewed by expert panel | ClinGen:CA006384 |
| single nucleotide variant | NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter) | MLH1 | Pathogenic | 3 | 37083775 | 37083775 | C | T | reviewed by expert panel | ClinGen:CA006391 |
| Duplication | NM_000249.4(MLH1):c.1689dup (p.Leu564fs) | MLH1 | Pathogenic | 3 | 37083779 | 37083780 | T | TA | reviewed by expert panel | ClinGen:CA006397 |
| Deletion | NM_000249.4(MLH1):c.1690_1693del (p.Leu564fs) | MLH1 | Pathogenic | 3 | 37083780 | 37083783 | TACTC | T | reviewed by expert panel | ClinGen:CA006405 |
| single nucleotide variant | NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro) | MLH1 | Likely pathogenic | 3 | 37083812 | 37083812 | T | C | reviewed by expert panel | ClinGen:CA006493,UniProtKB:P40692#VAR_004458 |
| Deletion | NM_000249.4(MLH1):c.1725del (p.Arg575fs) | MLH1 | Pathogenic | 3 | 37083815 | 37083815 | AG | A | reviewed by expert panel | ClinGen:CA006504 |
| single nucleotide variant | NM_000249.4(MLH1):c.1731+1G>A | MLH1 | Pathogenic | 3 | 37083823 | 37083823 | G | A | reviewed by expert panel | ClinGen:CA006527 |
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