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。
MUTYH関連ポリポーシス
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_001048174.2(MUTYH):c.544C>T (p.Gln182Ter) | MUTYH | Pathogenic | 1 | 45798308 | 45798308 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA058460 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798627 | 45798627 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA057931 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter) | MUTYH | Pathogenic | 1 | 45798631 | 45798631 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577735 |
| Duplication | NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798772 | 45798773 | C | CATCCAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577736 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.337C>T (p.Gln113Ter) | MUTYH | Pathogenic | 1 | 45798810 | 45798810 | G | A | criteria provided, single submitter | ClinGen:CA10577738 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.305-1G>C | MUTYH | Pathogenic | 1 | 45798843 | 45798843 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577740 |
| Deletion | NM_001048174.2(MUTYH):c.1468del (p.Ser490fs) | MUTYH | Likely pathogenic | 1 | 45795076 | 45795076 | CT | C | criteria provided, single submitter | ClinGen:CA10581799 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796895 | 45796895 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581802 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.606+1G>T | MUTYH | Likely pathogenic | 1 | 45798245 | 45798245 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581808 |
| Duplication | NM_001048174.2(MUTYH):c.249dup (p.Pro84fs) | MUTYH | Pathogenic | 1 | 45799099 | 45799100 | G | GT | criteria provided, single submitter | ClinGen:CA10581812 |
Copyright © Japan Institute for Health Security. All rights reserved.