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。
筋ジストロフィー
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) | ||||||||||
| Deletion | NC_000023.11:g.(?_31729621)_(31836829_?)del | DMD | Pathogenic | X | 31747738 | 31854946 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31819965)_(31820093_?)del | DMD | Pathogenic | X | 31838082 | 31838210 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31875178)_(31968524_?)del | DMD | Pathogenic | X | 31893295 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31968329)_(31968524_?)del | DMD | Pathogenic | X | 31986446 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32287519)_(32365209_?)del | DMD | Pathogenic | X | 32305636 | 32383326 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32491267)_(32849830_?)del | DMD | Pathogenic | X | 32509384 | 32867947 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32614293)_(32651077_?)del | DMD | Likely pathogenic | X | 32632410 | 32669194 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32715967)_(33146302_?)dup | DMD | Pathogenic | X | 32715967 | 33146302 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32809483)_(32849830_?)del | DMD | Pathogenic | X | 32827600 | 32867947 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32827600)_(33038327_?)dup | DMD | Pathogenic | X | 32827600 | 33038327 | na | na | criteria provided, single submitter | - |
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