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.(?_31314406)_(31364153_?)del | DMD | Pathogenic | X | 31332523 | 31382270 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_31332523)_(31526374_?)dup | DMD | Pathogenic | X | 31332523 | 31526374 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31627663)_(31968524_?)del | DMD | Pathogenic | X | 31645780 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31729621)_(31774202_?)del | DMD | Pathogenic | X | 31747738 | 31792319 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31819965)_(31932237_?)del | DMD | Pathogenic | X | 31838082 | 31950354 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31819965)_(31968524_?)del | DMD | Pathogenic | X | 31838082 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31879410)_(31968524_?)del | DMD | Pathogenic | X | 31897527 | 31986641 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000023.11:g.(?_31965029)_(31968524_?)del | DMD | Pathogenic | X | 31983146 | 31986641 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32235013)_(33038337_?)dup | DMD | Pathogenic | X | 32235013 | 33038337 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000023.10:g.(?_32305626)_(32366665_?)dup | DMD | Likely pathogenic | X | 32305626 | 32366665 | na | na | criteria provided, single submitter | - |
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