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) | ||||||||||
| Duplication | NC_000023.10:g.(?_31222078)_(31241238_?)dup | DMD | Pathogenic | X | 31222078 | 31241238 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31223027)_(31223141_?)del | DMD | Pathogenic | X | 31241144 | 31241258 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31332523)_(31627738_?)dup | DMD | Pathogenic | X | 31332523 | 31627738 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31514885)_(31697723_?)dup | DMD | Pathogenic | X | 31514885 | 31697723 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31609621)_(31774212_?)del | DMD | Pathogenic | X | 31627738 | 31792329 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31676087)_(31747885_?)dup | DMD | Likely pathogenic | X | 31676087 | 31747885 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31679355)_(31679606_?)del | DMD | Pathogenic | X | 31697472 | 31697723 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31729611)_(31932247_?)del | DMD | Pathogenic | X | 31747728 | 31950364 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31932060)_(31968534_?)del | DMD | Pathogenic | X | 31950177 | 31986651 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32216896)_(32365219_?)del | DMD | Pathogenic | X | 32235013 | 32383336 | na | na | criteria provided, single submitter | - |
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