Knowledge base for genomic medicine in Japanese
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筋ジストロフィー
小児・神経疾患
Excelでダウンロード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.(?_31609621)_(32501852_?)del | DMD | Pathogenic | X | 31627738 | 32519969 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31609621)_(31968524_?)del | DMD | Pathogenic | X | 31627738 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31595570)_(31774202_?)del | DMD | Pathogenic | X | 31613687 | 31792319 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31507271)_(31507463_?)del | DMD | Pathogenic | X | 31525388 | 31525580 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31496778)_(31507463_?)del | DMD | Pathogenic | X | 31514895 | 31525580 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31496768)_(31679606_?)del | DMD | Pathogenic | X | 31514885 | 31697723 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31323588)_(31507463_?)del | DMD | Pathogenic | X | 31341705 | 31525580 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31341705)_(31341785_?)dup | DMD | Pathogenic | X | 31341705 | 31341785 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.10:g.(?_152990712)_(153650075_?)del | EMD | Pathogenic | X | 152990712 | 153650075 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_32844773)_(32849830_?)del | DMD | Pathogenic | X | 32862890 | 32867947 | na | na | criteria provided, single submitter | - |
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