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。
ロイス・ディーツ症候群
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) | ||||||||||
| Indel | NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67457301 | 67457307 | GGCGATG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA320096 |
| single nucleotide variant | NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67457303 | 67457303 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA062085 |
| single nucleotide variant | NM_005902.4(SMAD3):c.401-6G>A | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67457585 | 67457585 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_005902.4(SMAD3):c.455del (p.Pro152fs) | SMAD3 | Pathogenic | 15 | 67457640 | 67457640 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA320725 |
| Deletion | NM_005902.4(SMAD3):c.483del (p.Glu162fs) | SMAD3 | Pathogenic | 15 | 67457670 | 67457670 | TC | T | criteria provided, single submitter | ClinGen:CA323716 |
| Duplication | NM_005902.4(SMAD3):c.492dup (p.Asn165Ter) | SMAD3 | Pathogenic | 15 | 67457681 | 67457682 | C | CT | criteria provided, single submitter | - |
| single nucleotide variant | NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67473653 | 67473653 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA323714 |
| single nucleotide variant | NM_005902.4(SMAD3):c.772G>C (p.Asp258His) | SMAD3 | Likely pathogenic | 15 | 67473692 | 67473692 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA325318 |
| single nucleotide variant | NM_005902.4(SMAD3):c.787C>G (p.Pro263Ala) | SMAD3 | Pathogenic | 15 | 67473707 | 67473707 | C | G | criteria provided, single submitter | ClinGen:CA321192 |
| single nucleotide variant | NM_005902.4(SMAD3):c.803G>A (p.Arg268His) | SMAD3 | Pathogenic/Likely pathogenic | 15 | 67473723 | 67473723 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA321807 |
Copyright © Japan Institute for Health Security. All rights reserved.