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。
特発性拡張型心筋症
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_004006.3(DMD):c.8782A>T (p.Lys2928Ter) | DMD | Pathogenic | X | 31496378 | 31496378 | T | A | criteria provided, single submitter | ClinGen:CA412654168 |
| single nucleotide variant | NM_004006.3(DMD):c.8391-2A>G | DMD | Pathogenic/Likely pathogenic | X | 31515063 | 31515063 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA412655700 |
| single nucleotide variant | NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) | DMD | Pathogenic/Likely pathogenic | X | 32509531 | 32509531 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412672508 |
| single nucleotide variant | NM_004006.3(DMD):c.2416G>T (p.Glu806Ter) | DMD | Pathogenic | X | 32509600 | 32509600 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412672878 |
| Deletion | NM_004006.3(DMD):c.1481del (p.Lys494fs) | DMD | Pathogenic | X | 32632421 | 32632421 | CT | C | criteria provided, single submitter | ClinGen:CA645509389 |
| single nucleotide variant | NM_004006.3(DMD):c.2101G>T (p.Glu701Ter) | DMD | Pathogenic | X | 32563343 | 32563343 | C | A | criteria provided, single submitter | ClinGen:CA412667880 |
| single nucleotide variant | NM_004006.3(DMD):c.4845+2T>G | DMD | Pathogenic | X | 32398625 | 32398625 | A | C | criteria provided, single submitter | ClinGen:CA412660874 |
| single nucleotide variant | NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly) | DMD | Pathogenic | X | 31227618 | 31227618 | T | C | criteria provided, single submitter | ClinGen:CA412649724 |
| single nucleotide variant | NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter) | DMD | Pathogenic | X | 31676235 | 31676235 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA412655998 |
| single nucleotide variant | NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) | DMD | Pathogenic | X | 31496280 | 31496280 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA412653956 |
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