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) | ||||||||||
| Deletion | NC_000023.11:g.(?_31773940)_(31968534_?)del | DMD | Pathogenic | X | 31792057 | 31986651 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31932060)_(31932247_?)del | DMD | Pathogenic | X | 31950177 | 31950364 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32216896)_(32217083_?)del | DMD | Pathogenic | X | 32235013 | 32235200 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32216896)_(32698018_?)del | DMD | Pathogenic | X | 32235013 | 32716135 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32411732)_(32573866_?)del | DMD | Pathogenic | X | 32429849 | 32591983 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32517988)_(33339285_?)del | DMD | Pathogenic | X | 32536105 | 33357402 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31279052)_(31747885_?)dup | DMD | Pathogenic | X | 31279052 | 31747885 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31657970)_(31932247_?)del | DMD | Pathogenic | X | 31676087 | 31950364 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31729625)_(31774198_?)del | DMD | Pathogenic | X | 31747742 | 31792315 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31836698)_(31932247_?)del | DMD | Pathogenic | X | 31854815 | 31950364 | na | na | criteria provided, single submitter | - |
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