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。
原発性免疫不全症候群
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_000061.3(BTK):c.1526T>C (p.Met509Thr) | BTK | Pathogenic | X | 100611080 | 100611080 | A | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000061.3(BTK):c.1004T>A (p.Val335Asp) | BTK | Pathogenic | X | 100613396 | 100613396 | A | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) | BTK | Pathogenic | X | 100612536 | 100612536 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000061.3(BTK):c.655del (p.Val219fs) | BTK | Pathogenic | X | 100615677 | 100615677 | AC | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000061.3(BTK):c.588+1G>T | BTK | Pathogenic/Likely pathogenic | X | 100617160 | 100617160 | C | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000061.3(BTK):c.1701A>C (p.Glu567Asp) | BTK | Likely pathogenic | X | 100608907 | 100608907 | T | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000061.3(BTK):c.1349+4A>T | BTK | Likely pathogenic | X | 100611768 | 100611768 | T | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000061.3(BTK):c.142-205A>G | BTK | Likely pathogenic | X | 100629827 | 100629827 | T | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) | BTK | Pathogenic | X | 100608327 | 100608327 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000061.3(BTK):c.1697C>G (p.Pro566Arg) | BTK | Pathogenic | X | 100608911 | 100608911 | G | C | criteria provided, single submitter | - |
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