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.497T>A (p.Leu166Ter) | MLH1 | Pathogenic | 3 | 37050348 | 37050348 | T | A | reviewed by expert panel | ClinGen:CA010700 |
| Deletion | NM_000249.4(MLH1):c.497del (p.Ala165_Leu166insTer) | MLH1 | Pathogenic | 3 | 37050346 | 37050346 | CT | C | reviewed by expert panel | ClinGen:CA010691 |
| Deletion | NM_000249.4(MLH1):c.502_503del (p.Asn168fs) | MLH1 | Pathogenic | 3 | 37050349 | 37050350 | TAA | T | reviewed by expert panel | ClinGen:CA010715 |
| Duplication | NM_000249.4(MLH1):c.503dup (p.Asn168fs) | MLH1 | Pathogenic | 3 | 37050348 | 37050349 | T | TA | reviewed by expert panel | ClinGen:CA010732 |
| Deletion | NM_000249.4(MLH1):c.513del (p.Glu172fs) | MLH1 | Pathogenic | 3 | 37050363 | 37050363 | GA | G | reviewed by expert panel | ClinGen:CA010758 |
| Insertion | NM_000249.4(MLH1):c.524_525insGA (p.Ile176fs) | MLH1 | Pathogenic | 3 | 37050374 | 37050375 | A | AAG | reviewed by expert panel | ClinGen:CA010767 |
| Deletion | NM_000249.4(MLH1):c.52del (p.Arg18fs) | MLH1 | Pathogenic | 3 | 37035089 | 37035089 | AC | A | reviewed by expert panel | ClinGen:CA010785 |
| Indel | NM_000249.4(MLH1):c.531_532delinsAT (p.Glu178Ter) | MLH1 | Pathogenic | 3 | 37050382 | 37050383 | GG | AT | reviewed by expert panel | ClinGen:CA010794 |
| Indel | NM_000249.4(MLH1):c.531_532delinsCT (p.Leu177_Glu178delinsPheTer) | MLH1 | Pathogenic | 3 | 37050382 | 37050383 | GG | CT | reviewed by expert panel | ClinGen:CA010802 |
| single nucleotide variant | NM_000249.4(MLH1):c.544A>G (p.Arg182Gly) | MLH1 | Pathogenic | 3 | 37050395 | 37050395 | A | G | reviewed by expert panel | ClinGen:CA010872,UniProtKB:P40692#VAR_012909 |
Copyright © Japan Institute for Health Security. All rights reserved.