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。
網膜色素変性症
小児・神経疾患
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_206933.4(USH2A):c.3589del (p.Ser1197fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216373191 | 216373191 | GA | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.3317-1G>A | USH2A | Likely pathogenic | 1 | 216373464 | 216373464 | C | T | criteria provided, single submitter | - |
| Deletion | NM_206933.4(USH2A):c.11389+1del | USH2A | Pathogenic/Likely pathogenic | 1 | 215931936 | 215931936 | AC | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 215931998 | 215931998 | A | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.8558+1G>T | USH2A | Pathogenic/Likely pathogenic | 1 | 216052105 | 216052105 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.2168-2A>G | USH2A | Pathogenic/Likely pathogenic | 1 | 216420570 | 216420570 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) | USH2A | Pathogenic/Likely pathogenic | 1 | 216465633 | 216465633 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.7620del (p.Leu2541fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216062371 | 216062371 | GA | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.7595-1G>A | USH2A | Likely pathogenic | 1 | 216062397 | 216062397 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216017775 | 216017775 | C | T | criteria provided, multiple submitters, no conflicts | - |
Copyright © Japan Institute for Health Security. All rights reserved.