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) | ||||||||||
| single nucleotide variant | NM_206933.4(USH2A):c.1972-1G>A | USH2A | Pathogenic/Likely pathogenic | 1 | 216424441 | 216424441 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.4081+2T>C | USH2A | Likely pathogenic | 1 | 216371655 | 216371655 | A | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) | USH2A | Pathogenic | 1 | 216419939 | 216419939 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.2168-1G>C | USH2A | Pathogenic | 1 | 216420569 | 216420569 | C | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.2167+5G>A | USH2A | Pathogenic/Likely pathogenic | 1 | 216424240 | 216424240 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) | USH2A | Pathogenic | 1 | 216424389 | 216424389 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) | USH2A | Likely pathogenic | 1 | 216462734 | 216462734 | C | A | reviewed by expert panel | - |
| single nucleotide variant | NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) | USH2A | Pathogenic/Likely pathogenic | 1 | 216500953 | 216500953 | G | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_206933.4(USH2A):c.651+1G>A | USH2A | Likely pathogenic | 1 | 216591855 | 216591855 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_206933.4(USH2A):c.387del (p.Phe129fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216595292 | 216595292 | CA | C | criteria provided, multiple submitters, no conflicts | - |
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